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
VPS45	11311	broad.mit.edu	37	1	150039930	150039930	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:150039930G>T	ENST00000369130.3	+	1	562	c.16G>T	c.(16-18)Gct>Tct	p.A6S	VPS45_ENST00000535106.1_Missense_Mutation_p.A6S|VPS45_ENST00000369128.5_Intron	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	6					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.A6S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGTGGTTTTTGCTGTGAAGCA	0.498000													33	92					4.14481e-20	6.71296e-20	0.235728	1	0
ZNF662	389114	broad.mit.edu	37	3	42949613	42949613	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:42949613G>A	ENST00000541208.1	+	2	376	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ZNF662_ENST00000440367.2_Missense_Mutation_p.E3K|ZNF662_ENST00000328199.6_Missense_Mutation_p.E64K|ZNF662_ENST00000422021.1_Missense_Mutation_p.E3K|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	3	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E64K(1)|p.E3K(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTGATGCTGGAGAATTATGG	0.567000													7	25					0	0	0.278610	0	0
OR10G9	219870	broad.mit.edu	37	11	123894188	123894188	+	Missense_Mutation	SNP	G	G	T	rs144713433		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:123894188G>T	ENST00000375024.1	+	1	469	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V157F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GCACTCTGCTGTCCAGACCAT	0.557000													64	93					5.00163e-47	8.53584e-47	0.323286	1	0
MFSD6	54842	broad.mit.edu	37	2	191301129	191301129	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:191301129C>T	ENST00000392328.1	+	3	698	c.374C>T	c.(373-375)gCa>gTa	p.A125V	MFSD6_ENST00000281416.7_Missense_Mutation_p.A125V	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	125					transmembrane transport	integral to membrane		p.A125V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGTGTAGTTGCAGACCGCTTT	0.428000													31	80					0	0	0.163468	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17991008	17991008	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:17991008C>G	ENST00000361221.3	+	26	3086	c.2927C>G	c.(2926-2928)aCc>aGc	p.T976S	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T937S|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T679S|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.T971S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T937S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T749S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	976					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.T976S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTGTCCGCACCCTGTTGAGC	0.672000													5	18					0	0	0.248553	0	0
ADAM23	8745	broad.mit.edu	37	2	207452814	207452814	+	Splice_Site	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:207452814G>T	ENST00000264377.3	+	20	2116		c.e20-1		ADAM23_ENST00000374415.3_Splice_Site|ADAM23_ENST00000374416.1_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.?(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)		CCTGTCCCCAGGGCCGCTGCT	0.493000													16	48					2.5808e-16	4.05273e-16	0.175082	1	0
FHOD3	80206	broad.mit.edu	37	18	34335226	34335226	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr18:34335226G>T	ENST00000257209.4	+	22	3974	c.3852G>T	c.(3850-3852)cgG>cgT	p.R1284R	FHOD3_ENST00000590592.1_Silent_p.R1459R|FHOD3_ENST00000359247.4_Silent_p.R1267R|FHOD3_ENST00000445677.1_Silent_p.R1246R|FHOD3_ENST00000591635.1_Silent_p.R480R|FHOD3_ENST00000592128.1_Silent_p.R263R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1267					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R1284R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AACAGAAACGGGCCAACCACA	0.418000													5	18					0.0215528	0.022309	0.217242	1	0
PTGER2	5732	broad.mit.edu	37	14	52781374	52781374	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:52781374G>T	ENST00000245457.5	+	1	262	c.108G>T	c.(106-108)gtG>gtT	p.V36V	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	36						integral to plasma membrane	prostaglandin E receptor activity	p.V36V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CGGCCGGGGTGCTGGGGAACC	0.682000													3	29					6.4e-05	7.44728e-05	0.115264	1	0
SI	6476	broad.mit.edu	37	3	164766917	164766917	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:164766917C>A	ENST00000264382.3	-	15	1775	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	571	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E571D(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCACTTACTGCTCTGTGGCTA	0.328000										HNSCC(35;0.089)			6	53					8.12818e-05	9.299e-05	0.248553	1	0
ATG2B	55102	broad.mit.edu	37	14	96756049	96756049	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:96756049G>C	ENST00000359933.4	-	41	6843	c.5950C>G	c.(5950-5952)Cac>Gac	p.H1984D		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1984								p.H1984D(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACTGGCTGGTGGGCTAACCGG	0.522000													20	93					0	0	0.204396	0	0
CSMD3	114788	broad.mit.edu	37	8	114326964	114326964	+	Silent	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:114326964A>T	ENST00000297405.5	-	2	481	c.237T>A	c.(235-237)ccT>ccA	p.P79P	CSMD3_ENST00000352409.3_Silent_p.P79P|CSMD3_ENST00000343508.3_Silent_p.P39P|CSMD3_ENST00000455883.2_Silent_p.P79P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	79	CUB 1.					integral to membrane|plasma membrane		p.P79P(1)|p.P39P(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						ATGGAAAACCAGGGCTTTCTA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	181					0	0	0.234183	0	0
MYRF	745	broad.mit.edu	37	11	61541490	61541490	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:61541490G>T	ENST00000278836.5	+	8	1263	c.1167G>T	c.(1165-1167)gtG>gtT	p.V389V	MYRF_ENST00000327797.1_Silent_p.V16V|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000265460.5_Silent_p.V380V	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.V380V(1)									ACTTTTCGGTGGGCGACGACG	0.652000													6	28					0.00116845	0.00127663	0.217242	1	0
CUBN	8029	broad.mit.edu	37	10	16942697	16942697	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:16942697C>A	ENST00000377833.4	-	53	8402	c.8337G>T	c.(8335-8337)ctG>ctT	p.L2779L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2779	CUB 20.				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.L2779L(1)		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)	AAGTCACGACCAGCTGATTGG	0.433000													11	81					0.010729	0.0113038	0.080935	1	0
FCRLA	84824	broad.mit.edu	37	1	161680999	161680999	+	Splice_Site	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:161680999C>A	ENST00000540926.1	+	4	545	c.250_splice	c.e4-1	p.D84_splice	FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Splice_Site_p.D95_splice|FCRLA_ENST00000349527.4_Splice_Site_p.D78_splice|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Splice_Site_p.D84_splice|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Splice_Site_p.D101_splice|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	78	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.D101E(1)|p.D78E(1)		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)			GGACCATAGACTGGCTGATCC	0.592000													3	18					0.004672	0.00498588	0.115264	1	0
RHBG	57127	broad.mit.edu	37	1	156354339	156354339	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:156354339T>G	ENST00000400992.2	+	9	1528	c.1160T>G	c.(1159-1161)tTt>tGt	p.F387C	RHBG_ENST00000494874.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.F419C|RHBG_ENST00000368246.2_Missense_Mutation_p.F419C|RHBG_ENST00000255013.3_Missense_Mutation_p.F350C			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	419					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.F419C(2)|p.F387C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AAGCTACCCTTTCTGGACTCC	0.627000											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	45					0	0	0.119110	0	0
RYR3	6263	broad.mit.edu	37	15	33936678	33936678	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:33936678C>T	ENST00000389232.4	+	28	3793	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	RYR3_ENST00000415757.3_Silent_p.L1241L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1241	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1241L(1)		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)		GCAAGCGCCTCCCGACGTTTG	0.502000													5	26					0	0	0.217242	0	0
ST14	6768	broad.mit.edu	37	11	130064043	130064043	+	Splice_Site	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:130064043G>T	ENST00000278742.5	+	8	1293		c.e8-1			NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)						proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCCCCCACAGGTTGTGTGGC	0.602000													11	93					6.40141e-05	7.44728e-05	0.080935	1	0
SLC13A2	9058	broad.mit.edu	37	17	26818601	26818601	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:26818601G>A	ENST00000444914.3	+	5	1288	c.868G>A	c.(868-870)Gca>Aca	p.A290T	SLC13A2_ENST00000537681.1_Missense_Mutation_p.A170T|SLC13A2_ENST00000314669.5_Missense_Mutation_p.A241T|SLC13A2_ENST00000545060.1_Missense_Mutation_p.A198T	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	241						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.A241T(1)|p.A290T(1)|p.A241P(1)|p.A290P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GACTGGCACCGCACCCAACCT	0.627000													11	57					0	0	0.093190	0	0
OR5M8	219484	broad.mit.edu	37	11	56258326	56258326	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:56258326T>A	ENST00000327216.2	-	1	545	c.521A>T	c.(520-522)aAt>aTt	p.N174I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N174I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GTAGAAGTGATTAATTTCATT	0.493000													14	64					0	0	0.119110	0	0
CSMD3	114788	broad.mit.edu	37	8	114448956	114448956	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:114448956C>A	ENST00000297405.5	-	1	372	c.128G>T	c.(127-129)gGa>gTa	p.G43V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G43V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G43V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	43						integral to membrane|plasma membrane		p.G43V(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						AAACGTAAATCCACTTTTAAT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	199					1.10923e-09	1.53215e-09	0.264190	1	0
NOD1	10392	broad.mit.edu	37	7	30492353	30492353	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:30492353C>A	ENST00000222823.4	-	6	1205	c.680G>T	c.(679-681)gGg>gTg	p.G227V	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	227	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.G227V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAATTTGACCCCTGCGTCTAG	0.582000													7	86					0.00198382	0.00213921	0.248553	1	0
ZNF492	57615	broad.mit.edu	37	19	22847981	22847981	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:22847981C>T	ENST00000456783.2	+	4	1754	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L504F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGGAGAGAAACTCTACAAACC	0.343000													8	10					0	0	0.080935	0	0
CCDC15	80071	broad.mit.edu	37	11	124857203	124857203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:124857203C>T	ENST00000529051.1	+	8	1340	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q361*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	361						centrosome		p.Q361*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCCAGATACCCAGGCTGTTGA	0.473000													43	101					0	0	0.290176	0	0
CD84	8832	broad.mit.edu	37	1	160535531	160535531	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:160535531C>A	ENST00000368054.3	-	2	86	c.51G>T	c.(49-51)ccG>ccT	p.P17P	CD84_ENST00000368048.3_Silent_p.P17P|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.P17P|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000311224.4_Silent_p.P17P	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	17					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.P17P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGCTGCTTCCGGCCCTGAGA	0.453000													3	30					0.115264	0.116677	0.115264	1	0
PKDCC	91461	broad.mit.edu	37	2	42284449	42284449	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:42284449G>T	ENST00000294964.5	+	6	1491	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	437	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	p.V437V(1)|p.V294V(1)		breast(2)|kidney(1)|lung(5)	8						TCCTTTCAGTGTTCAACCTGG	0.602000													9	111					0.000442599	0.000490063	0.058154	1	0
NOS2	4843	broad.mit.edu	37	17	26114746	26114746	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:26114746T>A	ENST00000313735.6	-	5	658	c.425A>T	c.(424-426)cAa>cTa	p.Q142L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	142					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.Q142L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTCGATAGCTTGAGGTAGAAG	0.527000													20	169					0	0	0.219247	0	0
CA2	760	broad.mit.edu	37	8	86385979	86385979	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:86385979G>T	ENST00000285379.5	+	3	520	c.290G>T	c.(289-291)tGg>tTg	p.W97L		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	97					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	p.W97L(1)		central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACTTTCACTGGGGTTCACTT	0.343000													18	131					7.45023e-12	1.095e-11	0.219247	1	0
MMP27	64066	broad.mit.edu	37	11	102565698	102565698	+	Splice_Site	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:102565698C>T	ENST00000260229.4	-	7	1124	c.1033_splice	c.e7+1	p.D345_splice		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	345	Hemopexin-like 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D345N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GCCAGGTTACCTTTAAAAACC	0.448000													15	23					0	0	0.146539	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963858	66963858	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:66963858C>T	ENST00000276570.5	+	3	363	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	26	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.L26L(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AATTCTTGGTCTGCATAAGGG	0.403000													16	162					0	0	0.146539	0	0
ATP2B2	491	broad.mit.edu	37	3	10444022	10444022	+	Silent	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:10444022C>G	ENST00000397077.1	-	6	983	c.408G>C	c.(406-408)acG>acC	p.T136T	ATP2B2_ENST00000343816.4_Silent_p.T136T|ATP2B2_ENST00000383800.4_Silent_p.T136T|ATP2B2_ENST00000360273.2_Silent_p.T136T|ATP2B2_ENST00000352432.4_Silent_p.T136T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	136					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.T136T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACCCTGGGCCGTCGCACATC	0.582000													34	73					0	0	0.173368	0	0
RYR2	6262	broad.mit.edu	37	1	237813179	237813179	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:237813179A>G	ENST00000366574.2	+	50	7832	c.7515A>G	c.(7513-7515)gcA>gcG	p.A2505A	RYR2_ENST00000542537.1_Silent_p.A2489A|RYR2_ENST00000360064.6_Silent_p.A2503A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2505	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.A2503A(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)			TTTTTCAGGCAGCTTTGAGTG	0.458000													11	102					0	0	0.080935	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533101	166533101	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:166533101G>A	ENST00000314499.7	+	6	1064	c.688G>A	c.(688-690)Gct>Act	p.A230T	CSRNP3_ENST00000409420.1_Missense_Mutation_p.A262T|CSRNP3_ENST00000342316.4_Missense_Mutation_p.A230T	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	230	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A230T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTGCAGCCTGGCTGGCATTAA	0.537000													5	68					0	0	0.184627	0	0
DCHS2	54798	broad.mit.edu	37	4	155155900	155155900	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:155155900C>A	ENST00000357232.3	-	25	8538	c.8539G>T	c.(8539-8541)Ggg>Tgg	p.G2847W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2847					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2847W(1)		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)		GGCACCTGCCCCAGGTTTACT	0.498000													19	177					5.03518e-11	7.32229e-11	0.189662	1	0
ZBED1	9189	broad.mit.edu	37	X	2406876	2406876	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:2406876C>A	ENST00000381223.4	-	2	2088	c.1885G>T	c.(1885-1887)Gtc>Ttc	p.V629F	RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.V629F|ZBED1_ENST00000381222.2_Missense_Mutation_p.V629F|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	629						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.V629F(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				TTGGCGCTGACCACGTTGGCG	0.677000													34	96					7.04047e-22	1.15386e-21	0.225048	1	0
PRDM9	56979	broad.mit.edu	37	5	23526601	23526601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:23526601G>A	ENST00000296682.3	+	11	1586	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	468					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.W468*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACATGGCAGAGGGAGA	0.453000										HNSCC(3;0.000094)			6	64					0	0	0.248553	0	0
HPGD	3248	broad.mit.edu	37	4	175443105	175443105	+	Silent	SNP	T	T	C	rs146392763		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:175443105T>C	ENST00000296522.6	-	2	653	c.207A>G	c.(205-207)caA>caG	p.Q69Q	HPGD_ENST00000504433.1_Silent_p.Q69Q|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000422112.2_Silent_p.Q69Q|HPGD_ENST00000542498.1_Silent_p.Q69Q|HPGD_ENST00000296521.7_Silent_p.Q69Q|HPGD_ENST00000541923.1_5'UTR	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	69					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	p.Q69Q(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CTCTCAGTTGTTGCTGGTCAG	0.537000													18	164					0	0	0.234183	0	0
TRPM6	140803	broad.mit.edu	37	9	77436681	77436681	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:77436681T>G	ENST00000451710.3	-	8	1151	c.914A>C	c.(913-915)gAg>gCg	p.E305A	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.E300A|TRPM6_ENST00000376872.3_Missense_Mutation_p.E305A|TRPM6_ENST00000376864.4_Missense_Mutation_p.E305A|TRPM6_ENST00000376871.3_Missense_Mutation_p.E305A|TRPM6_ENST00000361255.3_Missense_Mutation_p.E300A|TRPM6_ENST00000360774.1_Missense_Mutation_p.E305A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	305					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E305A(1)		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						CTTGACAGTCTCCCACACTGA	0.587000													4	39					0	0	0.150653	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621362	144621362	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:144621362G>C	ENST00000262577.5	-	2	206	c.175C>G	c.(175-177)Cgg>Ggg	p.R59G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	59					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.R59G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAGCCCCTCCGGCTTGGACGA	0.652000													40	76					0	0	0.290176	0	0
C6	729	broad.mit.edu	37	5	41154096	41154096	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:41154096C>A	ENST00000263413.3	-	15	2370	c.2106G>T	c.(2104-2106)acG>acT	p.T702T	C6_ENST00000337836.5_Silent_p.T702T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	702	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.T702T(2)		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)				TGATGCACTCCGTCCCTGCAA	0.403000													3	75					0.115264	0.116677	0.115264	1	0
TEX15	56154	broad.mit.edu	37	8	30694594	30694594	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:30694594A>T	ENST00000256246.2	-	3	8131	c.8057T>A	c.(8056-8058)gTa>gAa	p.V2686E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2686								p.V2686E(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGGCTGTACTTCATATGA	0.438000													19	88					0	0	0.234183	0	0
OR4N5	390437	broad.mit.edu	37	14	20612416	20612416	+	Silent	SNP	C	C	A	rs76001619	byFrequency	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:20612416C>A	ENST00000333629.1	+	1	522	c.522C>A	c.(520-522)ctC>ctA	p.L174L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L174L(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAAACCAGCTCGATAACTTCT	0.507000													13	86					1.5842e-08	2.13119e-08	0.105934	1	0
MALAT1	378938	broad.mit.edu	37	11	65273655	65273655	+	RNA	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:65273655C>T	ENST00000534336.1	+	0	8423					NR_002819.2																						TTTGCTTTGACTACTAATCTG	0.443000													24	47					0	0	0.324025	0	0
TTN	7273	broad.mit.edu	37	2	179582535	179582535	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:179582535G>C	ENST00000589042.1	-	87	25290	c.25066C>G	c.(25066-25068)Cgc>Ggc	p.R8356G	TTN_ENST00000591111.1_Missense_Mutation_p.R8039G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8039	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7112G(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)			GGAAGTTTGCGCGCTGTAAAG	0.378000													6	43					0	0	0.217242	0	0
GPR139	124274	broad.mit.edu	37	16	20043937	20043937	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:20043937G>T	ENST00000570682.1	-	2	482	c.182C>A	c.(181-183)tCc>tAc	p.S61Y		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	61						integral to membrane|plasma membrane		p.S61*(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTTGTAGGAGGACTTCTGTCT	0.448000													10	41					4.68919e-08	6.18733e-08	0.069234	1	0
LRRC8A	56262	broad.mit.edu	37	9	131670205	131670205	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:131670205G>T	ENST00000259324.5	+	3	1285	c.762G>T	c.(760-762)gtG>gtT	p.V254V	LRRC8A_ENST00000372599.3_Silent_p.V254V|LRRC8A_ENST00000372600.4_Silent_p.V254V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	254					pre-B cell differentiation	integral to membrane		p.V254V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGACCCATGTGGAGGAGGGGG	0.557000													11	55					3.86212e-05	4.53141e-05	0.069234	1	0
FAM47A	158724	broad.mit.edu	37	X	34149722	34149722	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:34149722G>C	ENST00000346193.3	-	1	725	c.674C>G	c.(673-675)cCg>cGg	p.P225R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	225	Pro-rich.							p.P225R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGAGGCTCCGGGCGGAGACT	0.662000													7	41					0	0	0.248553	0	0
OSBPL5	114879	broad.mit.edu	37	11	3121425	3121425	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:3121425C>T	ENST00000263650.7	-	14	1743	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E	OSBPL5_ENST00000348039.5_Silent_p.E460E|OSBPL5_ENST00000389989.3_Silent_p.E460E|OSBPL5_ENST00000525498.1_Silent_p.E439E|OSBPL5_ENST00000542243.1_Silent_p.E159E	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	528					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	p.E528E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGTGTAATCCTCGGCTCGGT	0.607000													3	18					0	0	0.150653	0	0
LOC440040	440040	broad.mit.edu	37	11	49598269	49598269	+	RNA	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:49598269G>A	ENST00000527477.1	+	0	873																											AGCCATTCAGGTCCAGAATTT	0.488000													6	18					0	0	0.278610	0	0
FAM135B	51059	broad.mit.edu	37	8	139209829	139209829	+	Silent	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:139209829A>T	ENST00000395297.1	-	8	923	c.753T>A	c.(751-753)gcT>gcA	p.A251A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	251								p.A251A(2)		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)			GACCCCGGTAAGCGTGGAGGA	0.597000										HNSCC(54;0.14)			7	65					0	0	0.248553	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143																											CATCTCTGTACGATGATGTGA	0.358000													4	37					0	0	0.307466	0	0
RALA	5898	broad.mit.edu	37	7	39736360	39736360	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:39736360A>G	ENST00000005257.2	+	4	780	c.400A>G	c.(400-402)Aaa>Gaa	p.K134E	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	134					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	p.K134E(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TTTAGAAGATAAAAGACAGGT	0.363000													22	66					0	0	0.264190	0	0
ATXN1	6310	broad.mit.edu	37	6	16328216	16328216	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:16328216G>A	ENST00000244769.4	-	8	1262	c.326C>T	c.(325-327)cCg>cTg	p.P109L	ATXN1_ENST00000436367.1_Missense_Mutation_p.P109L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	109					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.P109L(1)		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)				CCCTGGCTGCGGGGTGGCGTA	0.647000													14	56					0	0	0.119110	0	0
UNC45B	146862	broad.mit.edu	37	17	33510508	33510508	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:33510508G>T	ENST00000268876.5	+	19	2539	c.2442G>T	c.(2440-2442)ggG>ggT	p.G814G	UNC45B_ENST00000394570.2_Silent_p.G812G|UNC45B_ENST00000378449.1_Silent_p.G733G|UNC45B_ENST00000591048.1_Silent_p.G733G|UNC45B_ENST00000433649.1_Silent_p.G812G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	814					cell differentiation|muscle organ development	cytosol	binding	p.G814G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTCTGCGGGGAGGATGATG	0.557000													7	36					0.0293803	0.0301843	0.248553	1	0
C9orf3	84909	broad.mit.edu	37	9	97823056	97823056	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:97823056C>A	ENST00000375315.2	+	13	2196	c.2196C>A	c.(2194-2196)ctC>ctA	p.L732L	C9orf3_ENST00000297979.5_Silent_p.L633L|C9orf3_ENST00000425634.2_Silent_p.L94L|C9orf3_ENST00000433691.2_Silent_p.L73L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	732					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L633L(1)|p.L732L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGCAAAGCCTCCAGAGGACAT	0.517000													9	36					0.000274275	0.00030698	0.307466	1	0
IBA57	200205	broad.mit.edu	37	1	228362874	228362874	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:228362874A>T	ENST00000366711.3	+	3	733	c.731A>T	c.(730-732)gAg>gTg	p.E244V	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.E51V	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	244					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.E244V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGCCCCTGGAGTCCAACCTG	0.632000													10	85					0	0	0.069234	0	0
USP53	54532	broad.mit.edu	37	4	120170029	120170029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:120170029G>T	ENST00000450251.1	+	3	908	c.364G>T	c.(364-366)Gag>Tag	p.E122*	USP53_ENST00000274030.6_Nonsense_Mutation_p.E122*			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	122					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.E122*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGATGCTGCGGAGTGCTTTGT	0.383000													14	128					1.3612e-06	1.7192e-06	0.132662	1	0
BOD1L1	259282	broad.mit.edu	37	4	13588025	13588025	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:13588025T>A	ENST00000040738.5	-	17	8563	c.8428A>T	c.(8428-8430)Aca>Tca	p.T2810S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2810							DNA binding	p.T2810S(1)									AATACCTTTGTGTCATGTGGC	0.363000													19	47					0	0	0.234183	0	0
NDE1	54820	broad.mit.edu	37	16	15785148	15785148	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:15785148C>T	ENST00000396355.1	+	7	1497	c.671C>T	c.(670-672)tCa>tTa	p.S224L	NDE1_ENST00000342673.5_Missense_Mutation_p.S224L|NDE1_ENST00000396353.2_Missense_Mutation_p.S224L|NDE1_ENST00000396354.1_Missense_Mutation_p.S224L	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	224	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	p.S224L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGACCCAGCTCAAGTTTAAAC	0.572000													6	19					0	0	0.217242	0	0
LRP1B	53353	broad.mit.edu	37	2	141641581	141641581	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:141641581G>T	ENST00000389484.3	-	25	4945	c.3974C>A	c.(3973-3975)gCc>gAc	p.A1325D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1325					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A1325D(1)		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)		CACTTCAATGGCACTGACACC	0.473000										TSP Lung(27;0.18)			19	69					2.94398e-08	3.93484e-08	0.189662	1	0
TAF1L	138474	broad.mit.edu	37	9	32635336	32635336	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:32635336G>T	ENST00000242310.4	-	1	331	c.242C>A	c.(241-243)aCg>aAg	p.T81K	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	81					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.T81K(1)		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)		TTCATTTGCCGTGAGTTCAGT	0.522000													20	93					3.7963e-18	6.03028e-18	0.279207	1	0
TNR	7143	broad.mit.edu	37	1	175365934	175365934	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:175365934G>C	ENST00000367674.1	-	5	1694	c.986C>G	c.(985-987)cCa>cGa	p.P329R	TNR_ENST00000263525.2_Missense_Mutation_p.P329R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P329R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAAGTCCTCTGGAGGGGCAAC	0.557000													20	98					0	0	0.153744	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594897	140594897	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140594897A>G	ENST00000341948.4	+	1	1389	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		401	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Y401C(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAACTTTTACACCCTACTA	0.448000													6	48					0	0	0.248553	0	0
C5AR2	27202	broad.mit.edu	37	19	47845055	47845055	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:47845055G>T	ENST00000595464.1	+	2	1217	c.999G>T	c.(997-999)tcG>tcT	p.S333S	C5AR2_ENST00000600626.1_Silent_p.S333S|C5AR2_ENST00000257267.2_Silent_p.S333S	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2									p.S333S(1)									ACCTGGTCTCGGAGATGGAGG	0.557000													3	31					2.56e-06	3.17502e-06	0.150653	1	0
RICTOR	253260	broad.mit.edu	37	5	38949913	38949913	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:38949913G>C	ENST00000357387.3	-	31	4067	c.4037C>G	c.(4036-4038)tCt>tGt	p.S1346C	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1346C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1346					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.S1346C(1)		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)					TTCAGAGTGAGATAAGGATGG	0.408000													13	219					0	0	0.093190	0	0
UNC13C	440279	broad.mit.edu	37	15	54914534	54914534	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:54914534C>A	ENST00000545554.1	+	30	6116	c.6116C>A	c.(6115-6117)tCc>tAc	p.S2039Y	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.S2039Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.S2037Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2039					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S2039Y(2)		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)		GGTCGTTCCTCCAAAGATGCC	0.408000													9	66					0.00010058	0.00011475	0.093190	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606402	84606402	+	Silent	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:84606402T>C	ENST00000344803.2	+	4	1064	c.1017T>C	c.(1015-1017)tcT>tcC	p.S339S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.S339S(2)									CATCCACCTCTGCCCCAACAA	0.468000													19	107					0	0	0.175082	0	0
CTCFL	140690	broad.mit.edu	37	20	56099046	56099046	+	Silent	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:56099046C>G	ENST00000426658.2	-	1	877	c.216G>C	c.(214-216)tcG>tcC	p.S72S	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Silent_p.S72S|CTCFL_ENST00000423479.2_Silent_p.S72S|CTCFL_ENST00000422869.2_Silent_p.S72S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Silent_p.S72S|CTCFL_ENST00000422109.2_Silent_p.S72S|CTCFL_ENST00000371196.2_Silent_p.S72S|CTCFL_ENST00000432255.2_Silent_p.S72S|CTCFL_ENST00000429804.2_Silent_p.S72S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	72					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.S72S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CGCTCTCCTCCGAGGGGGCCA	0.587000													37	63					0	0	0.193644	0	0
USP53	54532	broad.mit.edu	37	4	120170028	120170028	+	Silent	SNP	G	G	C	rs144065914	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:120170028G>C	ENST00000450251.1	+	3	907	c.363G>C	c.(361-363)gcG>gcC	p.A121A	USP53_ENST00000274030.6_Silent_p.A121A			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	121					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.E122*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATGATGCTGCGGAGTGCTTTG	0.383000													14	130					0	0	0.132662	0	0
DNAH7	56171	broad.mit.edu	37	2	196825191	196825191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:196825191G>T	ENST00000312428.6	-	18	2784	c.2684C>A	c.(2683-2685)gCt>gAt	p.A895D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	895	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A895D(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTTTGCTAGCTGCTTCACT	0.403000													25	143					6.21321e-17	9.79411e-17	0.264190	1	0
BCKDHB	594	broad.mit.edu	37	6	80838877	80838877	+	Splice_Site	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:80838877G>T	ENST00000545529.1	+	3	302		c.e3-1		BCKDHB_ENST00000369760.4_Splice_Site|BCKDHB_ENST00000320393.6_Splice_Site|BCKDHB_ENST00000356489.5_Splice_Site|BCKDHB_ENST00000486968.1_Splice_Site			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide						branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CTGTTTTTCAGTAATATTTGG	0.259000													16	56					1.15088e-07	1.49941e-07	0.146539	1	0
PAPPA2	60676	broad.mit.edu	37	1	176762718	176762718	+	Silent	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:176762718T>C	ENST00000367662.3	+	20	6207	c.5043T>C	c.(5041-5043)tgT>tgC	p.C1681C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1681	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.C1681C(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						CCCCATTGTGTGTAATCCCCC	0.473000													10	60					0	0	0.132662	0	0
PLCH2	9651	broad.mit.edu	37	1	2420731	2420731	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:2420731G>A	ENST00000449969.1	+	9	1401	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PLCH2_ENST00000419816.2_Missense_Mutation_p.D441N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.D441N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D441N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	441	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D441N(1)|p.D288N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CATCCTTGGGGACAAGCTGGA	0.552000													16	65					0	0	0.146539	0	0
VAX1	11023	broad.mit.edu	37	10	118896116	118896116	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:118896116C>A	ENST00000277905.2	-	2	540	c.296G>T	c.(295-297)cGg>cTg	p.R99L	VAX1_ENST00000369206.5_Missense_Mutation_p.R99L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99						nucleus	sequence-specific DNA binding	p.R99L(2)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTCTTAGGCCGGTCCAAGTC	0.657000													10	22					0.00621372	0.00659708	0.058154	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253584	32253584	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr21:32253584C>G	ENST00000332378.4	-	1	290	c.260G>C	c.(259-261)cGa>cCa	p.R87P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	87						keratin filament	structural molecule activity	p.R87P(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTAGTTTGTCGAGAGCAAGT	0.562000													3	31					0	0	0.150653	0	0
CATSPERB	79820	broad.mit.edu	37	14	92074741	92074741	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:92074741T>C	ENST00000256343.3	-	22	2762	c.2606A>G	c.(2605-2607)tAc>tGc	p.Y869C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	869					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.Y869C(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGGAGGCCTGTAGTTTATCTG	0.323000													7	49					0	0	0.278610	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975781	128975781	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:128975781C>A	ENST00000357166.6	-	3	532	c.141G>T	c.(139-141)ggG>ggT	p.G47G	ZDHHC9_ENST00000371064.3_Silent_p.G47G	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	47						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.G47G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GTGTACATGTCCCCAGGATGA	0.517000													33	82					6.02846e-25	1.01209e-24	0.183431	1	0
NFKBID	84807	broad.mit.edu	37	19	36380905	36380905	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:36380905C>A	ENST00000396901.1	-	11	1348	c.775G>T	c.(775-777)Gcc>Tcc	p.A259S	NFKBID_ENST00000606253.1_Missense_Mutation_p.A259S|NFKBID_ENST00000352614.2_Missense_Mutation_p.A411S|NFKBID_ENST00000340950.2_Missense_Mutation_p.A96S	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	259					inflammatory response	nucleus		p.A259S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GCCTCCTGGGCCGGCCCAGGG	0.706000													7	17					2.0095e-06	2.52256e-06	0.248553	1	0
IL7R	3575	broad.mit.edu	37	5	35874576	35874576	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:35874576C>A	ENST00000303115.3	+	6	861	c.732C>A	c.(730-732)acC>acA	p.T244T	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	244			T -> I (in dbSNP:rs6897932).		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.T244_I245insPPVCSVT(2)|p.T244>NECS(1)|p.T244_I245insRPCG(1)|p.T244_I245insCPT(1)|p.T244_I245insLPCVY(1)|p.T244T(1)|p.L242_S246>PQGGC(1)|p.T244_I245insCHL(1)|p.P240_S246>LKC(1)|p.P240_S246>LQSC(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTTACTAACCATCAGCATTT	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	304					2.68362e-12	4.00121e-12	0.093190	1	0
DRGX	644168	broad.mit.edu	37	10	50599213	50599213	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:50599213C>A	ENST00000374139.2	-	2	139	c.129G>T	c.(127-129)caG>caT	p.Q43H	DRGX_ENST00000434016.1_Missense_Mutation_p.Q48H			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	48					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q48H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TTGGTACCTGCTGAAGAGTGA	0.463000													3	20					0.014758	0.0153528	0.184627	1	0
KLHL20	27252	broad.mit.edu	37	1	173703228	173703228	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:173703228G>A	ENST00000209884.4	+	3	536	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	134	BTB.				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.E134K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GATAACAGTAGAAGAGGGCAA	0.473000													9	63					0	0	0.058154	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	25					0	0	0.184627	0	0
OR3A3	8392	broad.mit.edu	37	17	3324736	3324736	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:3324736C>A	ENST00000291231.1	+	1	875	c.875C>A	c.(874-876)cCc>cAc	p.P292H		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P292Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTGATCAACCCCATGCTGAAC	0.498000													34	65					2.08457e-15	3.24878e-15	0.153744	1	0
FER1L6	654463	broad.mit.edu	37	8	125052164	125052164	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:125052164C>A	ENST00000522917.1	+	20	2712	c.2506C>A	c.(2506-2508)Cgg>Agg	p.R836R	FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R836R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	836	C2 3.					integral to membrane		p.R836R(1)		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)			GTACCAAGCCCGGGGCCTCAT	0.507000													22	90					2.79863e-10	3.97194e-10	0.309145	1	0
PCDH17	27253	broad.mit.edu	37	13	58240807	58240807	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:58240807T>A	ENST00000377918.3	+	3	2663	c.2637T>A	c.(2635-2637)ttT>ttA	p.F879L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	879					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.F879L(1)		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)		GCTCCACGTTTAAGGACCCAG	0.443000													12	29					0	0	0.105934	0	0
SUSD4	55061	broad.mit.edu	37	1	223465926	223465926	+	Silent	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:223465926T>C	ENST00000343846.3	-	2	849	c.216A>G	c.(214-216)ggA>ggG	p.G72G	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.G72G|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.G72G			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	72	Sushi 1.					integral to membrane		p.G72G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGAAAACCCCTCCGCTGGGGG	0.502000													10	81					0	0	0.093190	0	0
COL4A5	1287	broad.mit.edu	37	X	107858176	107858176	+	Nonsense_Mutation	SNP	G	G	T	rs104886182		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:107858176G>T	ENST00000328300.6	+	30	2675	c.2431G>T	c.(2431-2433)Gga>Tga	p.G811*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G811*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	811	Triple-helical region.		G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G811L(1)		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						TGGACCAATGGGACCTCCTGG	0.463000									Alport syndrome with Diffuse Leiomyomatosis				10	30					2.27111e-07	2.94034e-07	0.093190	1	0
ZNF318	24149	broad.mit.edu	37	6	43307502	43307502	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:43307502C>T	ENST00000361428.2	-	10	4311	c.4234G>A	c.(4234-4236)Ggg>Agg	p.G1412R	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1412					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.G1412R(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACCTCTTCCCCTCCAAATGCT	0.458000													13	64					0	0	0.093190	0	0
VPS13A	23230	broad.mit.edu	37	9	79890421	79890421	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:79890421G>C	ENST00000360280.3	+	25	2780	c.2520G>C	c.(2518-2520)gaG>gaC	p.E840D	VPS13A_ENST00000376634.4_Missense_Mutation_p.E840D|VPS13A_ENST00000357409.5_Missense_Mutation_p.E840D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E840D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	840					Golgi to endosome transport|protein transport	intracellular	protein binding	p.E840_E841>D*(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGATTCAGAGGAGGAATTTT	0.308000													10	88					0	0	0.069234	0	0
OR2M7	391196	broad.mit.edu	37	1	248487840	248487840	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:248487840C>T	ENST00000317965.2	-	1	59	c.31G>A	c.(31-33)Gac>Aac	p.D11N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D11N(1)		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)			AGGAGGAAGTCAGAGTTGAAG	0.458000													30	186					0	0	0.183431	0	0
ROBO4	54538	broad.mit.edu	37	11	124761606	124761606	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:124761606C>A	ENST00000306534.3	-	11	2125	c.1640G>T	c.(1639-1641)cGg>cTg	p.R547L	ROBO4_ENST00000533054.1_Missense_Mutation_p.R402L|RP11-664I21.6_ENST00000524433.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	547					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R547L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGCCCCCAGCCGACTGCTGAG	0.647000													7	47					0.0381472	0.038997	0.278610	1	0
NBAS	51594	broad.mit.edu	37	2	15427279	15427279	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:15427279C>A	ENST00000281513.5	-	42	5081	c.5056G>T	c.(5056-5058)Gct>Tct	p.A1686S	NBAS_ENST00000441750.1_Missense_Mutation_p.A1566S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1686								p.A1686S(1)		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						AGAGAAATAGCAATGCTGTAG	0.468000													9	54					2.17888e-05	2.58585e-05	0.058154	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100801699	100801699	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:100801699G>C	ENST00000268070.4	-	6	1121	c.1016C>G	c.(1015-1017)gCc>gGc	p.A339G	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	339	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A339G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACAAACACGGCAGCATCCAC	0.537000													6	23					0	0	0.248553	0	0
COL5A2	1290	broad.mit.edu	37	2	189923181	189923181	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:189923181C>G	ENST00000374866.3	-	33	2477	c.2203G>C	c.(2203-2205)Gga>Cga	p.G735R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	735					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G735R(1)		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)			CCATGTCCTCCAGCCATTCCC	0.433000													11	40					0	0	0.132662	0	0
DOCK2	1794	broad.mit.edu	37	5	169186763	169186763	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:169186763G>C	ENST00000256935.8	+	24	2511	c.2431G>C	c.(2431-2433)Gat>Cat	p.D811H	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D303H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	811					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.D811H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATGGTCTTTGATGCGAAGTT	0.468000													13	84					0	0	0.132662	0	0
DICER1	23405	broad.mit.edu	37	14	95573988	95573988	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:95573988C>A	ENST00000526495.1	-	19	3052	c.2761G>T	c.(2761-2763)Gtt>Ttt	p.V921F	DICER1_ENST00000343455.3_Missense_Mutation_p.V921F|DICER1_ENST00000393063.1_Missense_Mutation_p.V921F|DICER1_ENST00000527414.1_Missense_Mutation_p.V921F|DICER1_ENST00000541352.1_Missense_Mutation_p.V921F			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	921	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.V921F(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)		AATTTAAAAACAAAGGGTGTT	0.343000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				12	91					1.61879e-10	2.34583e-10	0.093190	1	0
DNAH10	196385	broad.mit.edu	37	12	124298029	124298029	+	Missense_Mutation	SNP	C	C	T	rs138397621	byFrequency	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:124298029C>T	ENST00000409039.3	+	19	3134	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1037	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1037C(1)|p.R855C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGGTTATGCGCCACCCTCT	0.443000													3	68					0	0	0.115264	0	0
GPR139	124274	broad.mit.edu	37	16	20043936	20043936	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:20043936G>T	ENST00000570682.1	-	2	483	c.183C>A	c.(181-183)tcC>tcA	p.S61S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	61						integral to membrane|plasma membrane		p.S61*(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTTGTAGGAGGACTTCTGTC	0.453000													10	42					9.70103e-10	1.35356e-09	0.069234	1	0
POC1B	282809	broad.mit.edu	37	12	89860637	89860637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:89860637G>C	ENST00000378528.2	-	5	506	c.302C>G	c.(301-303)tCa>tGa	p.S101*	POC1B_ENST00000549504.1_Nonsense_Mutation_p.S65*|POC1B_ENST00000313546.3_Silent_p.L314L|POC1B_ENST00000393179.4_Silent_p.L184L|POC1B_ENST00000541909.1_Silent_p.L184L|POC1B_ENST00000549035.1_Silent_p.L272L					POC1 centriolar protein B									p.L314L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTAATCTTTTGAGATTTCTTT	0.348000													21	74					0	0	0.204396	0	0
THSD7B	80731	broad.mit.edu	37	2	138163308	138163308	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:138163308G>T	ENST00000409968.1	+	13	2804	c.2626G>T	c.(2626-2628)Gct>Tct	p.A876S	THSD7B_ENST00000413152.2_Missense_Mutation_p.A845S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.A876S					thrombospondin, type I, domain containing 7B									p.A876S(1)|p.A845S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCTTCACTGCTTGGTCCAA	0.507000													10	22					0.00621372	0.00659708	0.058154	1	0
UQCRC1	7384	broad.mit.edu	37	3	48646610	48646610	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:48646610A>G	ENST00000203407.5	-	2	611	c.195T>C	c.(193-195)tcT>tcC	p.S65S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	65					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.S65S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AAGTGGGCTGAGAGGACTGCT	0.647000													16	21					0	0	0.175082	0	0
TXLNB	167838	broad.mit.edu	37	6	139598001	139598001	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:139598001T>A	ENST00000358430.3	-	3	714	c.482A>T	c.(481-483)aAg>aTg	p.K161M	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	161						cytoplasm		p.K161M(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AAAATCAAACTTTTCTTCCGG	0.348000													6	43					0	0	0.217242	0	0
FAM71B	153745	broad.mit.edu	37	5	156592624	156592624	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:156592624G>T	ENST00000302938.4	-	1	651	c.556C>A	c.(556-558)Cca>Aca	p.P186T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	186						nucleus		p.P186T(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGTGTTGGGGTACTGCAG	0.512000													40	223					4.92203e-23	8.16384e-23	0.235728	1	0
ADAM7	8756	broad.mit.edu	37	8	24342845	24342845	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:24342845C>A	ENST00000175238.6	+	10	1014	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L311M|ADAM7_ENST00000520720.1_Missense_Mutation_p.L83M|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	311	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.L311M(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGTATGTGCCTGCCCTATTA	0.368000													17	89					2.4624e-09	3.35634e-09	0.204396	1	0
TBC1D16	125058	broad.mit.edu	37	17	77987181	77987181	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:77987181C>A	ENST00000310924.2	-	2	281	c.166G>T	c.(166-168)Ggg>Tgg	p.G56W		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	56						intracellular	Rab GTPase activator activity	p.G56W(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGGTGCTCCCCCAGCCCCTGC	0.667000													3	20					2.56e-06	3.17502e-06	0.150653	1	0
OR4A16	81327	broad.mit.edu	37	11	55111517	55111517	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:55111517A>G	ENST00000314721.2	+	1	891	c.841A>G	c.(841-843)Aat>Gat	p.N281D		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N281D(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCATGTTGAATCCTTTAAT	0.318000													12	62					0	0	0.080935	0	0
ASTN2	23245	broad.mit.edu	37	9	119976834	119976834	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:119976834A>T	ENST00000313400.4	-	3	918	c.818T>A	c.(817-819)cTg>cAg	p.L273Q	ASTN2_ENST00000361209.2_Missense_Mutation_p.L273Q|ASTN2_ENST00000373996.3_Missense_Mutation_p.L273Q|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	273						integral to membrane		p.L273Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGGGTTTGCAGCCGGGATGA	0.602000													6	38					0	0	0.217242	0	0
CNTN3	5067	broad.mit.edu	37	3	74350822	74350822	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:74350822C>A	ENST00000263665.6	-	14	1948	c.1921G>T	c.(1921-1923)Gtg>Ttg	p.V641L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V641L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCCAACCCACGGAGAAAGGT	0.448000													17	40					2.94398e-08	3.93484e-08	0.189662	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23814445	23814445	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:23814445T>G	ENST00000264867.2	-	10	2063	c.1944A>C	c.(1942-1944)gaA>gaC	p.E648D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	648					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.E648D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCGATATTCTTCCCTCTTCA	0.463000													16	191					0	0	0.175082	0	0
TTLL8	164714	broad.mit.edu	37	22	50485615	50485615	+	Silent	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr22:50485615T>A	ENST00000266182.6	-	4	374	c.375A>T	c.(373-375)acA>acT	p.T125T	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.T125T					tubulin tyrosine ligase-like family, member 8									p.T161T(1)|p.T125T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAAGGAGGCTGTCTTTGCGT	0.582000													5	23					0	0	0.184627	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936780	119936780	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:119936780G>T	ENST00000297350.4	-	5	1417	c.1039C>A	c.(1039-1041)Cac>Aac	p.H347N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	347	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity	p.H347N(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTAGTGCGTGCATTAGGCCC	0.438000													53	217					6.3008e-33	1.06649e-32	0.323286	1	0
ZWINT	11130	broad.mit.edu	37	10	58119843	58119843	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:58119843C>A	ENST00000373944.3	-	3	230	c.192G>T	c.(190-192)caG>caT	p.Q64H	ZWINT_ENST00000361148.6_Missense_Mutation_p.Q64H|ZWINT_ENST00000395405.1_Missense_Mutation_p.Q64H			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	64					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.Q64H(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCAGGATGTTCTGCAGGAAAT	0.562000													12	47					4.84862e-15	7.49992e-15	0.080935	1	0
ZBED1	9189	broad.mit.edu	37	X	2407791	2407791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:2407791G>A	ENST00000381223.4	-	2	1173	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	ZBED1_ENST00000381218.3_Nonsense_Mutation_p.Q324*|ZBED1_ENST00000381222.2_Nonsense_Mutation_p.Q324*|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	324						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.Q324*(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				ACGGCAGACTGCTGGAAGTAC	0.632000													15	28					0	0	0.119110	0	0
ARL14	80117	broad.mit.edu	37	3	160395577	160395577	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:160395577A>G	ENST00000320767.2	+	1	630	c.443A>G	c.(442-444)gAc>gGc	p.D148G		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	148					small GTPase mediated signal transduction	intracellular	GTP binding	p.D148G(1)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CTTTGCAGTGACCGGAACTGG	0.498000													21	52					0	0	0.249174	0	0
XDH	7498	broad.mit.edu	37	2	31611101	31611101	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:31611101C>A	ENST00000379416.3	-	7	604	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	186					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.D186Y(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACTGAGTGGTCTTTCTTCTGG	0.502000													7	52					0.000157383	0.000177594	0.278610	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882871	144882871	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:144882871G>T	ENST00000369359.4	-	27	3597	c.3559C>A	c.(3559-3561)Ctg>Atg	p.L1187M	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1050M|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1116M|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1050M|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1187M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1050					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.L1050M(2)		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)		CAAAGGCTCAGCATGGTGTTC	0.493000			T	PDGFRB	MPD								20	275					2.21704e-12	3.31752e-12	0.264190	1	0
KIAA1429	25962	broad.mit.edu	37	8	95531312	95531312	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:95531312T>A	ENST00000297591.5	-	9	2489	c.2414A>T	c.(2413-2415)aAt>aTt	p.N805I	KIAA1429_ENST00000437199.1_Missense_Mutation_p.N805I|KIAA1429_ENST00000421249.2_Missense_Mutation_p.N805I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	805					mRNA processing|RNA splicing	nucleus		p.N805I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCCACAGGATTAAAAGTAAT	0.408000													56	81					0	0	0.323286	0	0
LRP2	4036	broad.mit.edu	37	2	170127535	170127535	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:170127535C>T	ENST00000263816.3	-	16	2484	c.2199G>A	c.(2197-2199)atG>atA	p.M733I	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	733					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.M733I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAACTGGAACCATGACATCTT	0.413000													8	66					0	0	0.307466	0	0
NID2	22795	broad.mit.edu	37	14	52509064	52509064	+	Silent	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:52509064T>A	ENST00000216286.5	-	7	1583	c.1584A>T	c.(1582-1584)gcA>gcT	p.A528A	NID2_ENST00000541773.1_Silent_p.A475A	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	528	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.A528A(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCGGTGAGGTGCCCCTAAAA	0.512000													19	81					0	0	0.204396	0	0
COL4A5	1287	broad.mit.edu	37	X	107858177	107858177	+	Missense_Mutation	SNP	G	G	T	rs104886183		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:107858177G>T	ENST00000328300.6	+	30	2676	c.2432G>T	c.(2431-2433)gGa>gTa	p.G811V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G811V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	811	Triple-helical region.		G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G811L(1)		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						GGACCAATGGGACCTCCTGGG	0.463000									Alport syndrome with Diffuse Leiomyomatosis				10	29					2.27111e-07	2.94034e-07	0.093190	1	0
RHOU	58480	broad.mit.edu	37	1	228879403	228879403	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:228879403G>T	ENST00000366691.3	+	3	1359	c.693G>T	c.(691-693)caG>caT	p.Q231H		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	231					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	p.Q231H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CTCAGCAACAGCCAAAGAAGT	0.468000													18	107					1.33834e-09	1.83632e-09	0.189662	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418880	105418880	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:105418880C>A	ENST00000333244.5	-	7	3027	c.2908G>T	c.(2908-2910)Gcc>Tcc	p.A970S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	970						nucleus		p.A970S(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)			GCCTTCTGGGCCTGGACATCC	0.607000													38	212					5.43694e-19	8.70331e-19	0.225048	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934421	68934421	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:68934421G>T	ENST00000356291.2	-	7	729	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	224	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L224I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATGAGCTGGAGGCTGGCCTGC	0.507000													10	57					2.74318e-10	3.90667e-10	0.058154	1	0
OR4D6	219983	broad.mit.edu	37	11	59225048	59225048	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:59225048G>T	ENST00000300127.2	+	1	638	c.615G>T	c.(613-615)ctG>ctT	p.L205L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L205L(1)		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						ACAACGGACTGGTGACCCTGC	0.542000													28	63					4.87955e-14	7.40903e-14	0.324025	1	0
RIMS2	9699	broad.mit.edu	37	8	104897787	104897787	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:104897787C>G	ENST00000507740.1	+	2	620	c.384C>G	c.(382-384)taC>taG	p.Y128*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Y320*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.Y98*|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Y128*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	351	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.Y128*(2)|p.Y356*(1)|p.Y320*(1)|p.Y98*(1)		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)			GAGATGAATACGAAAGGCAAA	0.428000										HNSCC(12;0.0054)			14	37					0	0	0.105934	0	0
CRB1	23418	broad.mit.edu	37	1	197390222	197390222	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:197390222C>T	ENST00000367400.3	+	6	1399	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	CRB1_ENST00000538660.1_Missense_Mutation_p.H422Y|CRB1_ENST00000535699.1_Missense_Mutation_p.H353Y|CRB1_ENST00000543483.1_Missense_Mutation_p.H121Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.H310Y|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	422	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.H422Y(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTATACTTGCCATTGCCCATT	0.413000													39	152					0	0	0.235728	0	0
GML	2765	broad.mit.edu	37	8	143921845	143921845	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:143921845C>A	ENST00000220940.1	+	0	82					NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like						apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGCTCCTGCGTGAAGTGAT	0.577000													5	42					0.014758	0.0153528	0.184627	1	0
MTA3	57504	broad.mit.edu	37	2	42883392	42883392	+	Silent	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:42883392A>T	ENST00000405592.1	+	8	1054	c.384A>T	c.(382-384)ccA>ccT	p.P128P	MTA3_ENST00000405094.1_Silent_p.P184P|MTA3_ENST00000407270.3_Silent_p.P184P|MTA3_ENST00000406652.1_Silent_p.P128P|MTA3_ENST00000406911.1_Silent_p.P184P			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	184	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P184P(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTTGGGATCCAAATAGCCCAC	0.353000													20	67					0	0	0.309145	0	0
KANK4	163782	broad.mit.edu	37	1	62740490	62740490	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:62740490G>T	ENST00000371153.4	-	3	664	c.286C>A	c.(286-288)Cca>Aca	p.P96T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	96								p.P96T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCCTCCCTTGGCACCACGGGA	0.612000													16	100					2.48551e-13	3.73278e-13	0.160694	1	0
DPYSL2	1808	broad.mit.edu	37	8	26513217	26513217	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:26513217G>T	ENST00000311151.5	+	14	2126	c.1714G>T	c.(1714-1716)Ggc>Tgc	p.G572C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.G536C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.G536C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	572					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.G572C(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CACCAGCCTGGGCTAGAGCTC	0.572000											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	48					0.000442599	0.000490063	0.058154	1	0
ABCB1	5243	broad.mit.edu	37	7	87133638	87133638	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:87133638C>A	ENST00000265724.3	-	29	4181	c.3764G>T	c.(3763-3765)gGc>gTc	p.G1255V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.G1191V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1255	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G1255V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGATGCGTGCCATGCTCCTT	0.502000													16	84					3.52763e-06	4.32318e-06	0.160694	1	0
LILRA6	79168	broad.mit.edu	37	19	54745485	54745485	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:54745485G>T	ENST00000440558.2	-	4	673	c.625C>A	c.(625-627)Cac>Aac	p.H209N	LILRA6_ENST00000245621.5_Missense_Mutation_p.H209N|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.H209N|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.H209N|LILRA6_ENST00000270464.5_Missense_Mutation_p.H209N					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.H209N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACTGGGGTGGGACCACACC	0.612000													19	85					3.85864e-22	6.37448e-22	0.264190	1	0
AMIGO1	57463	broad.mit.edu	37	1	110050444	110050444	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:110050444T>C	ENST00000369864.4	-	2	1440	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R	AMIGO1_ENST00000369862.1_Missense_Mutation_p.H364R			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	364					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		p.H364R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATGGTGTCCGTGCAAGGTGAA	0.517000													7	49					0	0	0.278610	0	0
ENG	2022	broad.mit.edu	37	9	130586661	130586661	+	Silent	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:130586661C>G	ENST00000344849.3	-	8	1336	c.1056G>C	c.(1054-1056)ccG>ccC	p.P352P	ENG_ENST00000373203.4_Silent_p.P352P|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	352	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.P352P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGAGCAGCTCCGGGCTACAAG	0.597000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				12	37					0	0	0.093190	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651183	1651183	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:1651183G>T	ENST00000399676.2	+	1	151	c.113G>T	c.(112-114)tGt>tTt	p.C38F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	38						keratin filament		p.C38F(1)		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)		tgtgggggctgtggctccggc	0.726000													4	25					1.23904e-05	1.47897e-05	0.184627	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	70					0	0	0.115264	0	0
TTC8	123016	broad.mit.edu	37	14	89327606	89327606	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:89327606T>C	ENST00000338104.6	+	10	939	c.887T>C	c.(886-888)cTt>cCt	p.L296P	TTC8_ENST00000345383.5_Missense_Mutation_p.L270P|TTC8_ENST00000346301.4_Missense_Mutation_p.L240P|TTC8_ENST00000358622.5_Missense_Mutation_p.L82P|TTC8_ENST00000380656.2_Missense_Mutation_p.L280P|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Missense_Mutation_p.L41P			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	306					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.L280P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTTTAAATCTTTTCAAACAA	0.289000													3	80					0	0	0.150653	0	0
PROM2	150696	broad.mit.edu	37	2	95953996	95953996	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:95953996G>T	ENST00000317620.9	+	21	2415	c.2282G>T	c.(2281-2283)gGa>gTa	p.G761V	PROM2_ENST00000317668.4_Missense_Mutation_p.G761V|PROM2_ENST00000403131.2_Missense_Mutation_p.G761V|PROM2_ENST00000542147.1_Missense_Mutation_p.G712V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	761						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G761V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCCTCTCCGGAGCCCTGGAC	0.622000													11	85					9.70103e-10	1.35356e-09	0.069234	1	0
CCDC158	339965	broad.mit.edu	37	4	77305770	77305770	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:77305770T>C	ENST00000388914.3	-	4	489	c.337A>G	c.(337-339)Att>Gtt	p.I113V	CCDC158_ENST00000434846.2_Missense_Mutation_p.I113V	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	113								p.I113V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGCAAATCAATGACTGACTGC	0.333000													42	126					0	0	0.279185	0	0
THSD7A	221981	broad.mit.edu	37	7	11447019	11447019	+	Missense_Mutation	SNP	G	G	T	rs142233480	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:11447019G>T	ENST00000423059.3	-	20	4081	c.3830C>A	c.(3829-3831)aCg>aAg	p.T1277K	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1277	TSP type-1 12.					integral to membrane		p.T1277K(1)		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)		CATGCAGGACGTGTTCATCTG	0.478000										HNSCC(18;0.044)			5	24					0.184627	0.185978	0.184627	1	0
KIAA1432	57589	broad.mit.edu	37	9	5772720	5772720	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:5772720A>C	ENST00000414202.2	+	24	3964	c.3773A>C	c.(3772-3774)cAt>cCt	p.H1258P	KIAA1432_ENST00000418622.3_Missense_Mutation_p.H1179P|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H1142P	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1258						integral to membrane		p.H1179P(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAAGGGCCTCATAAATCCCAG	0.458000													5	18					0	0	0.217242	0	0
ASIC4	55515	broad.mit.edu	37	2	220396524	220396524	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:220396524G>T	ENST00000358078.4	+	2	1022	c.1008G>T	c.(1006-1008)ccG>ccT	p.P336P	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Silent_p.P336P			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	336						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.P336P(1)									ACGCGGACCCGCGGAGCTCGC	0.617000													29	85					2.4375e-19	3.91707e-19	0.125774	1	0
IGFN1	91156	broad.mit.edu	37	1	201187763	201187763	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:201187763C>A	ENST00000335211.4	+	18	10005	c.9875C>A	c.(9874-9876)gCt>gAt	p.A3292D	IGFN1_ENST00000295591.8_Missense_Mutation_p.A452D	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.A3292D(1)|p.A452D(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCATCGGATGCTGTCTTTGCT	0.627000													8	26					7.48243e-07	9.47927e-07	0.058154	1	0
IGHV4-34	28395	broad.mit.edu	37	14	106829896	106829896	+	RNA	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:106829896C>T	ENST00000390616.2	-	0	98																											GACAGGACCCCTGTGAACAGA	0.577000													4	20					0	0	0.184627	0	0
LCE1F	353137	broad.mit.edu	37	1	152748857	152748857	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:152748857C>A	ENST00000334371.2	+	1	10	c.10C>A	c.(10-12)Cag>Aag	p.Q4K		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	4					keratinization			p.Q4K(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGTCTTGCCAGCAGAGCCA	0.607000													6	41					8.12818e-05	9.299e-05	0.248553	1	0
DCHS2	54798	broad.mit.edu	37	4	155155902	155155902	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:155155902A>G	ENST00000357232.3	-	25	8536	c.8537T>C	c.(8536-8538)cTg>cCg	p.L2846P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2846					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L2846P(1)		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)		CACCTGCCCCAGGTTTACTGC	0.507000													20	188					0	0	0.204396	0	0
DLX5	1749	broad.mit.edu	37	7	96650229	96650229	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:96650229G>C	ENST00000222598.4	-	3	1162	c.689C>G	c.(688-690)tCc>tGc	p.S230C	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	230					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.S230C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGCGAGCGGGACGAGCCCTG	0.647000													10	41					0	0	0.069234	0	0
OR10A7	121364	broad.mit.edu	37	12	55615682	55615682	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:55615682C>A	ENST00000326258.1	+	1	874	c.874C>A	c.(874-876)Ctg>Atg	p.L292M		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292M(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CATCTACGGCCTGAGGAACAA	0.448000													7	54					2.17888e-05	2.58585e-05	0.058154	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482154	140482154	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140482154G>A	ENST00000231130.2	+	1	1921	c.1921G>A	c.(1921-1923)Gtg>Atg	p.V641M		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		641	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V641M(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGGCTGGTGGTGCTGGT	0.701000													6	44					0	0	0.217242	0	0
PLCH1	23007	broad.mit.edu	37	3	155199813	155199813	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:155199813C>A	ENST00000460012.1	-	23	4269	c.3912G>T	c.(3910-3912)gaG>gaT	p.E1304D	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1304D|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1304D|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1342D			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1342					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1304D(1)|p.E1342D(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTATTACATCCTCCAGGGTCA	0.468000													6	61					5.9392e-07	7.59409e-07	0.217242	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140537221	140537221	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140537221C>A	ENST00000539533.1	+	1	1645	c.1645C>A	c.(1645-1647)Cgc>Agc	p.R549S															p.R549S(2)									GGCGCTGGTGCGCGTGCTGGT	0.701000													8	45					0.27861	0.279966	0.278610	1	0
AFF2	2334	broad.mit.edu	37	X	148038041	148038041	+	Silent	SNP	A	A	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:148038041A>C	ENST00000370460.2	+	11	2945	c.2466A>C	c.(2464-2466)gcA>gcC	p.A822A	AFF2_ENST00000342251.3_Silent_p.A789A|AFF2_ENST00000370457.5_Silent_p.A789A|AFF2_ENST00000286437.5_Silent_p.A463A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	822					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.A822A(2)|p.A463A(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)					TCCATGCAGCACCTGCCAAGC	0.532000													7	32					0	0	0.080935	0	0
WDR17	116966	broad.mit.edu	37	4	177061073	177061073	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:177061073T>A	ENST00000393643.2	+	10	1642	c.1390T>A	c.(1390-1392)Tgg>Agg	p.W464R	WDR17_ENST00000280190.4_Missense_Mutation_p.W488R|WDR17_ENST00000507824.2_Missense_Mutation_p.W471R|WDR17_ENST00000508596.1_Missense_Mutation_p.W464R	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	488								p.W488R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGCATTGCCTGGAGTCATAA	0.303000													23	152					0	0	0.134883	0	0
SMAD3	4088	broad.mit.edu	37	15	67473723	67473723	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:67473723G>A	ENST00000327367.4	+	6	1113	c.803G>A	c.(802-804)cGc>cAc	p.R268H	SMAD3_ENST00000439724.3_Missense_Mutation_p.R224H|SMAD3_ENST00000540846.2_Missense_Mutation_p.R163H|SMAD3_ENST00000537194.2_Missense_Mutation_p.R73H	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	268	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.R268H(2)|p.R224H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AATTCGGAGCGCTTCTGCCTA	0.607000													5	29					0	0	0.248553	0	0
DNAJC3	5611	broad.mit.edu	37	13	96443247	96443247	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:96443247C>T	ENST00000602402.1	+	12	1595	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	DNAJC3_ENST00000376795.6_Missense_Mutation_p.S442L	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	493					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	p.S493L(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CCCTTCAGCTCAGGCGGACCA	0.428000													12	91					0	0	0.105934	0	0
UBN2	254048	broad.mit.edu	37	7	138967913	138967913	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:138967913C>A	ENST00000288561.8	+	15	2262	c.2013C>A	c.(2011-2013)gaC>gaA	p.D671E	UBN2_ENST00000473989.2_Missense_Mutation_p.D754E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	754								p.D671E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCCTCGACGACTCACTAGATG	0.522000													6	89					0.0293803	0.0301843	0.248553	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178541268	178541268	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:178541268T>C	ENST00000251582.7	-	22	3337	c.3236A>G	c.(3235-3237)tAt>tGt	p.Y1079C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1079	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1079C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GATGGAGCAATAGCGGGACAA	0.502000													5	22					0	0	0.217242	0	0
SETDB2	83852	broad.mit.edu	37	13	50042023	50042023	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:50042023G>C	ENST00000354234.4	+	5	1138	c.232G>C	c.(232-234)Gaa>Caa	p.E78Q	SETDB2_ENST00000317257.8_Missense_Mutation_p.E90Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.E78Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	90					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	p.E90Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GACTCAGAAGGAACAGGAAAA	0.323000													6	46					0	0	0.217242	0	0
FAM20B	9917	broad.mit.edu	37	1	179013192	179013192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:179013192G>A	ENST00000263733.4	+	2	546	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	70						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	p.W70*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CAGCCCAGTGGGTGGTTCCCC	0.562000													8	48					0	0	0.278610	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432194	117432194	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:117432194G>T	ENST00000160373.3	-	4	1147	c.1056C>A	c.(1054-1056)gcC>gcA	p.A352A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	352								p.A352A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TACCTGGTCTGGCCATGGTGG	0.498000													13	115					1.5842e-08	2.13119e-08	0.105934	1	0
SIGLEC6	946	broad.mit.edu	37	19	52033116	52033116	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:52033116C>T	ENST00000346477.3	-	4	894	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.A292T|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A240T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.A281T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A303T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A292T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	292	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.A265T(2)|p.A292T(2)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCGTTCAGGGCGGGGAAGCCC	0.637000													11	61					0	0	0.093190	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215949	140215949	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140215949G>A	ENST00000525929.1	+	1	1981	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A661T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1												p.A661T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACAGCCACAGCCAC	0.657000													11	44					0	0	0.080935	0	0
TDG	6996	broad.mit.edu	37	12	104378552	104378552	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:104378552G>T	ENST00000392872.3	+	8	1052	c.818G>T	c.(817-819)aGt>aTt	p.S273I	TDG_ENST00000266775.9_Missense_Mutation_p.S269I|TDG_ENST00000544861.1_Missense_Mutation_p.S130I|TDG_ENST00000542036.1_Missense_Mutation_p.S69I	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	273					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.S273I(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCATCATCCAGTGCAAGATGT	0.338000								Base excision repair (BER), DNA glycosylases					4	45					0.014758	0.0153528	0.184627	1	0
INTU	27152	broad.mit.edu	37	4	128584607	128584607	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:128584607G>A	ENST00000335251.5	+	4	943	c.840G>A	c.(838-840)caG>caA	p.Q280Q	INTU_ENST00000296461.5_Silent_p.Q280Q	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	280								p.Q280Q(1)		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						AAAAGACACAGTCCAACACAA	0.393000													26	44					0	0	0.309145	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381723	48381723	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:48381723A>G	ENST00000264313.6	+	4	1138	c.720A>G	c.(718-720)tcA>tcG	p.S240S	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Silent_p.S47S	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	240						centrosome		p.S240S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGAAAAGCTCAGACAGAAATC	0.313000													10	60					0	0	0.058154	0	0
STK26	51765	broad.mit.edu	37	X	131206387	131206387	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:131206387G>T	ENST00000394334.2	+	9	1277	c.1024G>T	c.(1024-1026)Gca>Tca	p.A342S	MST4_ENST00000354719.6_Missense_Mutation_p.A342S|MST4_ENST00000496850.1_Missense_Mutation_p.A280S|MST4_ENST00000481105.1_Missense_Mutation_p.A364S|MST4_ENST00000394335.2_Missense_Mutation_p.A265S	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		342					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.A342S(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACAGAATGGGGCAGTATGTAT	0.388000													17	29					3.99206e-14	6.08384e-14	0.189662	1	0
VPS41	27072	broad.mit.edu	37	7	38937702	38937702	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:38937702C>T	ENST00000310301.4	-	2	103	c.49G>A	c.(49-51)Gat>Aat	p.D17N	VPS41_ENST00000395969.2_Missense_Mutation_p.D17N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	17					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.D17N(1)|p.D17H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCAGACTCATCTGTAGATTCT	0.428000													4	77					0	0	0.150653	0	0
FBXO11	80204	broad.mit.edu	37	2	48066010	48066010	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:48066010T>A	ENST00000403359.3	-	4	647	c.575A>T	c.(574-576)gAt>gTt	p.D192V	FBXO11_ENST00000402508.1_Missense_Mutation_p.D108V|FBXO11_ENST00000378314.3_Missense_Mutation_p.D74V|FBXO11_ENST00000316377.4_Missense_Mutation_p.D108V|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	192	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)|p.D108V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAAATTGGATCATTAGCAAG	0.383000			"""Mis, F, D"""		DLBCL								12	41					0	0	0.093190	0	0
VPS13A	23230	broad.mit.edu	37	9	79908412	79908412	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:79908412A>G	ENST00000360280.3	+	32	3755	c.3495A>G	c.(3493-3495)ctA>ctG	p.L1165L	VPS13A_ENST00000376634.4_Silent_p.L1165L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Silent_p.L1165L|VPS13A_ENST00000376636.3_Silent_p.L1126L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1165					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L1165L(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAAATTTCTATATTCTATAT	0.274000													19	49					0	0	0.189662	0	0
CASR	846	broad.mit.edu	37	3	122003983	122003983	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:122003983G>A	ENST00000498619.1	+	7	3650	c.3212G>A	c.(3211-3213)aGc>aAc	p.S1071N	CASR_ENST00000490131.1_Missense_Mutation_p.S1061N|CASR_ENST00000296154.5_Missense_Mutation_p.S1061N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1061					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S1061N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGTTCACAGAGCTTTGTCATC	0.517000													30	70					0	0	0.173368	0	0
VCL	7414	broad.mit.edu	37	10	75874084	75874084	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:75874084G>T	ENST00000211998.4	+	20	3186	c.3092G>T	c.(3091-3093)cGg>cTg	p.R1031L	VCL_ENST00000372755.3_Missense_Mutation_p.R963L|VCL_ENST00000417648.2_Missense_Mutation_p.R224L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1031	C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity).				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	p.R1031L(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAGGTGACTCGGTTGGCCAAG	0.552000													8	42					1.12685e-05	1.34895e-05	0.307466	1	0
FRAS1	80144	broad.mit.edu	37	4	79373507	79373507	+	Splice_Site	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:79373507A>T	ENST00000264895.6	+	47	7202	c.6763_splice	c.e47+1	p.P2254_splice		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2253					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P2255P(1)|p.P2254P(1)		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						CAGCATCACCAGGTAAGTCTA	0.463000													4	16					0	0	0.150653	0	0
GRINA	2907	broad.mit.edu	37	8	145065687	145065687	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:145065687A>T	ENST00000313269.5	+	2	574	c.296A>T	c.(295-297)tAc>tTc	p.Y99F	GRINA_ENST00000395068.4_Missense_Mutation_p.Y99F	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	99	Pro-rich.					integral to membrane		p.Y99F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGGGGGCTACCCCCAGGGG	0.667000													4	10					0	0	0.150653	0	0
PRDM9	56979	broad.mit.edu	37	5	23526586	23526586	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:23526586G>A	ENST00000296682.3	+	11	1571	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	463					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.L463L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAACTCTTGAATAAAAGGA	0.463000										HNSCC(3;0.000094)			5	56					0	0	0.217242	0	0
OR8H1	219469	broad.mit.edu	37	11	56057612	56057612	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:56057612G>T	ENST00000313022.2	-	1	954	c.927C>A	c.(925-927)gaC>gaA	p.D309E		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D309E(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATTACCTGGAGTCCTGTCTTC	0.328000													22	162					3.83957e-06	4.69154e-06	0.264190	1	0
SH2D4B	387694	broad.mit.edu	37	10	82369203	82369203	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:82369203G>T	ENST00000339284.2	+	6	1311	c.881G>T	c.(880-882)cGc>cTc	p.R294L	SH2D4B_ENST00000470604.2_Missense_Mutation_p.R293L|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R246L	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	293								p.R294L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGCCCGCTGCGCCCAGTCTCC	0.612000													4	61					2.56e-06	3.17502e-06	0.150653	1	0
CDH10	1008	broad.mit.edu	37	5	24487942	24487942	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:24487942G>T	ENST00000264463.4	-	12	2704	c.2197C>A	c.(2197-2199)Ctt>Att	p.L733I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	733					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L733I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGGTTGCAAGTGAGTCGTAG	0.468000										HNSCC(23;0.051)			21	314					1.50039e-11	2.19738e-11	0.234183	1	0
ZNF705A	440077	broad.mit.edu	37	12	8329650	8329650	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:8329650G>A	ENST00000359286.4	+	5	463	c.374G>A	c.(373-375)tGc>tAc	p.C125Y		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C125Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GGAGAAGATTGCACTCACAGT	0.393000													28	118					0	0	0.163468	0	0
SLC23A1	9963	broad.mit.edu	37	5	138718265	138718265	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:138718265C>T	ENST00000353963.3	-	2	104	c.66G>A	c.(64-66)ccG>ccA	p.P22P	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000348729.3_Silent_p.P22P	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	22					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.P22P(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTGTGGGTAGCGGGGTCGAGG	0.567000													3	47					0	0	0.115264	0	0
MEIS2	4212	broad.mit.edu	37	15	37187407	37187407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:37187407C>A	ENST00000338564.5	-	12	1517	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000397624.3_Missense_Mutation_p.Q269H|MEIS2_ENST00000397620.2_Missense_Mutation_p.Q269H|MEIS2_ENST00000382766.2_Missense_Mutation_p.Q357H|MEIS2_ENST00000424352.2_Missense_Mutation_p.Q364H|MEIS2_ENST00000219869.9_Missense_Mutation_p.Q218H|MEIS2_ENST00000557796.2_Missense_Mutation_p.Q344H|MEIS2_ENST00000340545.5_Missense_Mutation_p.Q344H|MEIS2_ENST00000559561.1_Missense_Mutation_p.Q357H|MEIS2_ENST00000561208.1_Missense_Mutation_p.Q364H|MEIS2_ENST00000444725.1_Missense_Mutation_p.Q357H|MEIS2_ENST00000559085.1_Missense_Mutation_p.Q351H	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	364					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.Q364H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCCCCATGGGCTGACCCTCTG	0.537000													10	71					3.07112e-06	3.77492e-06	0.080935	1	0
TMEM217	221468	broad.mit.edu	37	6	37186304	37186304	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:37186304C>G	ENST00000336655.2	-	2	542	c.503G>C	c.(502-504)cGa>cCa	p.R168P	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.R168P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	168						integral to membrane		p.R168P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TGTAGAAATTCGTCTCTTGTA	0.438000													25	138					0	0	0.125774	0	0
YTHDC1	91746	broad.mit.edu	37	4	69197847	69197847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:69197847C>A	ENST00000344157.4	-	7	1431	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.E366*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.E348*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	366	YTH.							p.E366*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GACACATTCTCATGGTTGTTA	0.318000													11	62					1.15088e-07	1.49941e-07	0.146539	1	0
MUC16	94025	broad.mit.edu	37	19	9087382	9087382	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:9087382C>T	ENST00000397910.4	-	1	4636	c.4433G>A	c.(4432-4434)aGt>aAt	p.S1478N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1478	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1478N(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						TGAACTTGGACTTGAAATATC	0.448000													31	155					0	0	0.144211	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967074	7967074	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:7967074C>A	ENST00000543909.1	-	16	2160	c.1401G>T	c.(1399-1401)ttG>ttT	p.L467F	SLC2A14_ENST00000539924.1_Missense_Mutation_p.L482F|SLC2A14_ENST00000542505.1_Missense_Mutation_p.L108F|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L444F|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L444F|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L358F|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L467F|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L358F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	467					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.L467F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGTAAAGGCCAAGAAGGTAA	0.453000													11	55					3.86212e-05	4.53141e-05	0.069234	1	0
DOCK4	9732	broad.mit.edu	37	7	111535708	111535708	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:111535708C>T	ENST00000428084.1	-	16	1819	c.1547G>A	c.(1546-1548)aGg>aAg	p.R516K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R516K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	516	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.R516K(1)|p.R504K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGAAGAGTCCTACCATCTTC	0.413000													67	236					0	0	0.323286	0	0
OR2T12	127064	broad.mit.edu	37	1	248458344	248458344	+	Silent	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:248458344G>C	ENST00000317996.1	-	1	536	c.537C>G	c.(535-537)gcC>gcG	p.A179A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A179A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			CCAACACGGGGGCCTCGCAGA	0.567000													13	60					0	0	0.132662	0	0
GALNT8	26290	broad.mit.edu	37	12	4873146	4873146	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:4873146G>C	ENST00000252318.2	+	9	1863	c.1526G>C	c.(1525-1527)tGc>tCc	p.C509S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.C509S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAAATGTCTGCTTGGATCAG	0.512000													7	51					0	0	0.278610	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238620	179238620	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:179238620G>T	ENST00000190611.4	+	15	1775	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	OSBPL6_ENST00000359685.3_Missense_Mutation_p.G431C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.G471C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.G492C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.G436C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.G400C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.G431C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	467					lipid transport		lipid binding	p.G467C(1)|p.G492C(1)		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)			TCTGCAGGCTGGTGAGCAAAT	0.433000													3	59					0.004672	0.00498588	0.115264	1	0
TOP1MT	116447	broad.mit.edu	37	8	144407573	144407573	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:144407573T>G	ENST00000523676.1	-	6	725	c.320A>C	c.(319-321)aAg>aCg	p.K107T	TOP1MT_ENST00000519148.1_Missense_Mutation_p.K107T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.K205T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K107T			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	205					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	p.K205T(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CATCCCCATCTTGGGATGGTC	0.577000													6	72					0	0	0.248553	0	0
OR1A2	26189	broad.mit.edu	37	17	3101096	3101096	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:3101096G>A	ENST00000381951.1	+	1	284	c.284G>A	c.(283-285)gGg>gAg	p.G95E		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G95E(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATCTCCTTTGGGGGATGCCTA	0.517000													22	82					0	0	0.219247	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33018246	33018246	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:33018246T>A	ENST00000357505.6	-	7	487	c.383A>T	c.(382-384)aAa>aTa	p.K128I	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K143I|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.K128I|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0								p.K143I(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGCCCAGTTTTCTTCAAAAC	0.313000													6	33					0	0	0.217242	0	0
GINS2	51659	broad.mit.edu	37	16	85712182	85712182	+	Silent	SNP	A	A	G	rs138755140		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:85712182A>G	ENST00000253462.3	-	4	496	c.396T>C	c.(394-396)gcT>gcC	p.A132A		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	132					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	p.A132A(1)		endometrium(2)|large_intestine(2)|lung(2)	6						CAAAGCTGTCAGCAGACACTC	0.557000													22	54					0	0	0.249174	0	0
OAF	220323	broad.mit.edu	37	11	120097542	120097542	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:120097542G>A	ENST00000328965.4	+	3	897	c.384G>A	c.(382-384)gtG>gtA	p.V128V	OAF_ENST00000531220.1_Silent_p.V12V	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	128								p.V128V(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCCGGGCAGTGCGGCAGGCGG	0.607000													6	54					0	0	0.307466	0	0
SLC6A2	6530	broad.mit.edu	37	16	55729298	55729298	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:55729298G>A	ENST00000379906.2	+	7	1386	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	SLC6A2_ENST00000566163.1_Silent_p.E332E|SLC6A2_ENST00000219833.8_Silent_p.E377E|SLC6A2_ENST00000561820.1_Silent_p.E377E|SLC6A2_ENST00000414754.3_Silent_p.E377E|SLC6A2_ENST00000567238.1_Silent_p.E272E|SLC6A2_ENST00000568943.1_Silent_p.E377E	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	377					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.E377E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCAACATTGAGGATGTGGCCA	0.577000													3	67					0	0	0.115264	0	0
ASPM	259266	broad.mit.edu	37	1	197112565	197112565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:197112565C>A	ENST00000367409.4	-	3	1073	c.817G>T	c.(817-819)Gag>Tag	p.E273*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.E273*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	273					mitosis	cytoplasm|nucleus	calmodulin binding	p.E273*(1)		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						ACAGCTTTCTCATTAAAAGAA	0.363000													21	134					3.51602e-12	5.22343e-12	0.204396	1	0
OR6C70	390327	broad.mit.edu	37	12	55863608	55863608	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:55863608C>A	ENST00000327335.4	-	1	314	c.315G>T	c.(313-315)ttG>ttT	p.L105F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CTGTAACCCCCAAGAATATGT	0.393000													11	60					1.36491e-13	2.05733e-13	0.105934	1	0
RNF133	168433	broad.mit.edu	37	7	122338345	122338345	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:122338345T>C	ENST00000340112.2	-	1	865	c.628A>G	c.(628-630)Att>Gtt	p.I210V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	210						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.I210V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTCTATGAATGTGATAAAAG	0.398000													16	103					0	0	0.132662	0	0
CNNM1	26507	broad.mit.edu	37	10	101090479	101090479	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:101090479C>T	ENST00000356713.4	+	1	1624	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	CNNM1_ENST00000370534.4_Silent_p.D80D|CNNM1_ENST00000370528.3_Silent_p.D374D|CNNM1_ENST00000446890.1_Silent_p.D374D	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	445	CBS 1.				ion transport	integral to membrane|plasma membrane		p.D80D(1)|p.D445D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGCGCTCAGACGCGGTGCTCG	0.602000													5	35					0	0	0.217242	0	0
SRPX	8406	broad.mit.edu	37	X	38033568	38033568	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:38033568C>A	ENST00000378533.3	-	3	300	c.194G>T	c.(193-195)gGg>gTg	p.G65V	SRPX_ENST00000538295.1_Missense_Mutation_p.G65V|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.G52V|SRPX_ENST00000432886.2_Missense_Mutation_p.G65V|SRPX_ENST00000544439.1_Missense_Mutation_p.G45V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	65	Sushi 1.				cell adhesion	cell surface|membrane		p.G65V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTACACATCCCCATACTTCAC	0.507000													7	28					0.0381472	0.038997	0.278610	1	0
KIAA0947	23379	broad.mit.edu	37	5	5486895	5486895	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:5486895G>T	ENST00000296564.7	+	18	6804	c.6582G>T	c.(6580-6582)tcG>tcT	p.S2194S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2194								p.S2194S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTAGTTCGGTTATTGGTA	0.328000													20	7					1.87028e-06	2.35496e-06	0.234183	1	0
PARN	5073	broad.mit.edu	37	16	14711498	14711498	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:14711498T>C	ENST00000437198.2	-	6	478	c.337A>G	c.(337-339)Att>Gtt	p.I113V	PARN_ENST00000420015.2_Missense_Mutation_p.I67V|PARN_ENST00000341484.7_Missense_Mutation_p.I52V|PARN_ENST00000566021.1_Intron|PARN_ENST00000539279.1_Intron	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	113					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.I113V(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AGAAAGTCAATGCTGGAGCTC	0.348000													8	54					0	0	0.058154	0	0
CPXM2	119587	broad.mit.edu	37	10	125521558	125521558	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:125521558G>A	ENST00000241305.3	-	11	1761	c.1607C>T	c.(1606-1608)aCg>aTg	p.T536M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	536					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.T536M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGTTCCTGCGTCTTCCAGGG	0.657000													10	74					0	0	0.080935	0	0
EP400	57634	broad.mit.edu	37	12	132498101	132498101	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:132498101G>T	ENST00000333577.4	+	19	3895	c.3786G>T	c.(3784-3786)gtG>gtT	p.V1262V	EP400_ENST00000332482.4_Silent_p.V1189V|EP400_ENST00000389562.2_Silent_p.V1225V|EP400_ENST00000389561.2_Silent_p.V1226V|EP400_ENST00000330386.6_Silent_p.V1226V			Q96L91	EP400_HUMAN	E1A binding protein p400	1262	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V1225V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACCATGGTGCACTTCCTGG	0.552000													17	63					2.35188e-11	3.43225e-11	0.175082	1	0
SLC12A3	6559	broad.mit.edu	37	16	56913484	56913484	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:56913484C>T	ENST00000438926.2	+	11	1395	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L	SLC12A3_ENST00000566786.1_Silent_p.L455L|SLC12A3_ENST00000563236.1_Silent_p.L456L|SLC12A3_ENST00000262502.5_Silent_p.L455L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	456					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.L456L(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTTCGCGCCCCTGATCACGGC	0.642000													14	35					0	0	0.146539	0	0
TBX22	50945	broad.mit.edu	37	X	79286020	79286020	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:79286020G>T	ENST00000442340.1	+	9	1103	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	TBX22_ENST00000373291.1_Missense_Mutation_p.V205L|TBX22_ENST00000373296.3_Missense_Mutation_p.V325L|TBX22_ENST00000373294.5_Missense_Mutation_p.V325L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	325					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V325L(1)		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						CTCATCTCCAGTGACCTCTAG	0.433000													16	67					2.32078e-09	3.17379e-09	0.132662	1	0
UNC79	57578	broad.mit.edu	37	14	94060029	94060029	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:94060029G>A	ENST00000553484.1	+	23	3190	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	UNC79_ENST00000393151.2_Silent_p.L1012L|UNC79_ENST00000256339.4_Silent_p.L835L|UNC79_ENST00000555664.1_Silent_p.L1012L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1012						integral to membrane		p.L1012L(1)|p.L835L(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						TCCCTAGCCTGTGGAGGGTCG	0.478000													19	91					0	0	0.189662	0	0
FAM47C	442444	broad.mit.edu	37	X	37028384	37028384	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:37028384C>T	ENST00000358047.3	+	1	1953	c.1901C>T	c.(1900-1902)cCt>cTt	p.P634L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	634								p.P634L(2)		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						CGCCCAGAGCCTCCCAAGACT	0.627000													10	94					0	0	0.093190	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999139	92999139	+	Silent	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:92999139T>G	ENST00000523629.1	-	8	1507	c.1053A>C	c.(1051-1053)gcA>gcC	p.A351A	RUNX1T1_ENST00000422361.2_Silent_p.A314A|RUNX1T1_ENST00000436581.2_Silent_p.A362A|RUNX1T1_ENST00000396218.1_Silent_p.A324A|RUNX1T1_ENST00000360348.2_Silent_p.A314A|RUNX1T1_ENST00000520724.1_Silent_p.A314A|RUNX1T1_ENST00000265814.3_Silent_p.A351A|RUNX1T1_ENST00000518844.1_Silent_p.A324A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	351	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A362A(1)|p.A314A(1)|p.A351A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCACTCTTCTGCCCATTCTC	0.368000													16	237					0	0	0.160694	0	0
TDRD9	122402	broad.mit.edu	37	14	104490907	104490907	+	Splice_Site	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:104490907G>T	ENST00000409874.4	+	25	2656	c.2606_splice	c.e25-1	p.V870_splice	TDRD9_ENST00000339063.5_Splice_Site_p.V870_splice	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	870					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V870L(1)|p.V585L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTATGTAGGGTGAATGTGGA	0.323000													6	54					8.12818e-05	9.299e-05	0.248553	1	0
GIMAP5	55340	broad.mit.edu	37	7	150439764	150439764	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:150439764G>T	ENST00000358647.3	+	3	904	c.537G>T	c.(535-537)gaG>gaT	p.E179D	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.E179D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCGGGAGTGTGAGAGAA	0.582000													8	106					5.4927e-09	7.43766e-09	0.307466	1	0
PCDH7	5099	broad.mit.edu	37	4	30725632	30725632	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:30725632A>T	ENST00000361762.2	+	1	3596	c.2588A>T	c.(2587-2589)cAg>cTg	p.Q863L	PCDH7_ENST00000543491.1_Missense_Mutation_p.Q863L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	863					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Q816L(1)|p.Q863L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCACTCACCCAGGATATAGCT	0.448000													16	50					0	0	0.146539	0	0
CRCP	27297	broad.mit.edu	37	7	65610483	65610483	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:65610483A>T	ENST00000395326.3	+	5	651	c.293A>T	c.(292-294)cAg>cTg	p.Q98L	CRCP_ENST00000338592.5_Missense_Mutation_p.Q65L|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000415001.2_Missense_Mutation_p.Q65L|AC068533.7_ENST00000450043.1_Silent_p.P280P|CRCP_ENST00000398684.2_Missense_Mutation_p.Q21L|CRCP_ENST00000431089.2_Missense_Mutation_p.Q91L	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	98					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	p.Q98L(2)|p.Q91L(1)		cervix(1)|kidney(1)|lung(4)	6						GTGGAGATCCAGCTGGTGAGT	0.562000													12	96					0	0	0.093190	0	0
MUC16	94025	broad.mit.edu	37	19	9048033	9048033	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:9048033C>A	ENST00000397910.4	-	5	33801	c.33598G>T	c.(33598-33600)Gtc>Ttc	p.V11200F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11202	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6833F(1)|p.V11200F(1)		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						GTAGGGGAGACAGCTAAAGTT	0.453000													9	14					1.12685e-05	1.34895e-05	0.307466	1	0
MEPE	56955	broad.mit.edu	37	4	88766342	88766342	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:88766342A>T	ENST00000497649.2	+	6	628	c.250A>T	c.(250-252)Act>Tct	p.T84S	MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.T108S|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.T108S|MEPE_ENST00000395102.4_Missense_Mutation_p.T139S			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	108					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.T108S(1)		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)		CAAAGAGAATACTCACAATGG	0.358000													27	72					0	0	0.134883	0	0
KIF2B	84643	broad.mit.edu	37	17	51901824	51901824	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:51901824C>T	ENST00000268919.4	+	1	1586	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	477					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A477V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTCTTCTAGCCCTCAAAGAA	0.512000													7	37					0	0	0.248553	0	0
OTOF	9381	broad.mit.edu	37	2	26683600	26683600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:26683600C>A	ENST00000272371.2	-	45	5854	c.5728G>T	c.(5728-5730)Gag>Tag	p.E1910*	OTOF_ENST00000339598.3_Nonsense_Mutation_p.E1143*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.E1910*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.E1220*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.E1143*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1910					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.E1143*(1)|p.E1220*(1)|p.E1910*(1)		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)					AAATGCAGCTCAGCCTCCACC	0.647000													4	21					2.56e-06	3.17502e-06	0.150653	1	0
OR3A3	8392	broad.mit.edu	37	17	3324737	3324737	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:3324737C>A	ENST00000291231.1	+	1	876	c.876C>A	c.(874-876)ccC>ccA	p.P292P		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P292Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TGATCAACCCCATGCTGAACC	0.498000													36	66					7.11191e-15	1.0919e-14	0.173368	1	0
DOCK2	1794	broad.mit.edu	37	5	169446013	169446013	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:169446013G>A	ENST00000256935.8	+	33	3362	c.3282G>A	c.(3280-3282)gaG>gaA	p.E1094E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.E155E|DOCK2_ENST00000520908.1_Silent_p.E586E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1094	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.E1094E(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTATATTAGAGATGACACTTA	0.453000													33	210					0	0	0.173368	0	0
SCN2A	6326	broad.mit.edu	37	2	166164446	166164446	+	Splice_Site	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:166164446G>C	ENST00000375437.2	+	4	765	c.476_splice	c.e4+1	p.E159_splice	SCN2A_ENST00000375427.2_Splice_Site_p.E159_splice|SCN2A_ENST00000357398.3_Splice_Site_p.E159_splice|SCN2A_ENST00000283256.6_Splice_Site_p.E159_splice	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	159					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E159Q(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAAGAATGTGGAGTAAGTATA	0.338000													43	196					0	0	0.290176	0	0
LRRC18	474354	broad.mit.edu	37	10	50121502	50121502	+	Silent	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:50121502T>C	ENST00000374160.3	-	1	775	c.699A>G	c.(697-699)agA>agG	p.R233R	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.R233R|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	233						cytoplasm		p.R233R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGATGGTCTTTCTCGGTGTCG	0.522000													25	192					0	0	0.294199	0	0
TRIO	7204	broad.mit.edu	37	5	14364019	14364019	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:14364019A>G	ENST00000344204.4	+	14	2594	c.2570A>G	c.(2569-2571)aAt>aGt	p.N857S	TRIO_ENST00000537187.1_Missense_Mutation_p.N857S|TRIO_ENST00000509967.2_Missense_Mutation_p.N808S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	857					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.N857S(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGTATGTCAATGAGGTCCAG	0.507000													9	81					0	0	0.307466	0	0
DDI1	414301	broad.mit.edu	37	11	103907640	103907640	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:103907640C>A	ENST00000302259.3	+	1	333	c.90C>A	c.(88-90)ttC>ttA	p.F30L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	30	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity	p.F30L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCGAAACTTCAAGGTCCTCT	0.612000													36	95					3.09479e-21	5.05196e-21	0.246493	1	0
LILRB1	10859	broad.mit.edu	37	19	55143393	55143393	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:55143393C>G	ENST00000396331.1	+	6	723	c.366C>G	c.(364-366)taC>taG	p.Y122*	LILRB1_ENST00000434867.2_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.Y158*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.Y122*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.Y122*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	122	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.Y122*(1)		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)		TAGGAGCCTACATCAAACCCA	0.592000										HNSCC(37;0.09)			6	63					0	0	0.248553	0	0
KIF21B	23046	broad.mit.edu	37	1	200969654	200969654	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:200969654G>C	ENST00000332129.2	-	11	1865	c.1549C>G	c.(1549-1551)Ctg>Gtg	p.L517V	KIF21B_ENST00000461742.2_Missense_Mutation_p.L517V|KIF21B_ENST00000422435.2_Missense_Mutation_p.L517V|KIF21B_ENST00000360529.5_Missense_Mutation_p.L517V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	517					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L517V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAAGCACCCAGGGAGTAGGGG	0.662000													10	89					0	0	0.069234	0	0
MMP16	4325	broad.mit.edu	37	8	89209452	89209452	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:89209452G>T	ENST00000286614.6	-	2	497	c.216C>A	c.(214-216)gcC>gcA	p.A72A	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	72					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.A72A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGCAGCTAGGGCAGACTGCA	0.473000													9	71					7.48243e-07	9.47927e-07	0.058154	1	0
ZBED1	9189	broad.mit.edu	37	X	2406877	2406877	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:2406877C>A	ENST00000381223.4	-	2	2087	c.1884G>T	c.(1882-1884)gtG>gtT	p.V628V	RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Silent_p.V628V|ZBED1_ENST00000381222.2_Silent_p.V628V|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	628						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.V629F(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				TGGCGCTGACCACGTTGGCGG	0.677000													35	95					4.92203e-23	8.16384e-23	0.235728	1	0
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:7577609C>G	ENST00000420246.2	-	7	805		c.e7-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527000		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)			14	17					0	0	0.119110	0	0
SSFA2	6744	broad.mit.edu	37	2	182780208	182780208	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:182780208C>T	ENST00000431877.2	+	11	2020	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	SSFA2_ENST00000409136.1_Missense_Mutation_p.P123L|SSFA2_ENST00000320370.7_Missense_Mutation_p.P614L|SSFA2_ENST00000428267.2_Missense_Mutation_p.P461L|SSFA2_ENST00000409001.1_Missense_Mutation_p.P614L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	614						cytoplasm|plasma membrane	actin binding	p.P614L(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)			ACCTGTAGTCCAGGGGATCAT	0.453000													12	63					0	0	0.093190	0	0
PADI4	23569	broad.mit.edu	37	1	17666217	17666217	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:17666217G>A	ENST00000375448.4	+	6	587	c.561G>A	c.(559-561)acG>acA	p.T187T	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	187					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.T187T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCTGAGCACGAAGACCCCCA	0.562000													9	37					0	0	0.307466	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175887	45175887	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:45175887G>T	ENST00000358777.4	+	2	555	c.75G>T	c.(73-75)tgG>tgT	p.W25C	CEACAM19_ENST00000403660.3_Missense_Mutation_p.W25C|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	25						integral to membrane		p.W25C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TGGTCCTCTGGATGCTCCAAG	0.552000													18	42					8.00594e-06	9.63981e-06	0.189662	1	0
UPP1	7378	broad.mit.edu	37	7	48146550	48146550	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:48146550G>T	ENST00000331803.4	+	8	1140	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	UPP1_ENST00000395564.4_Missense_Mutation_p.G173W|UPP1_ENST00000341253.4_Missense_Mutation_p.G173W|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.G36W			Q16831	UPP1_HUMAN	uridine phosphorylase 1	173					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.G173W(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GATTGTCCTGGGGAAGCGGGT	0.542000													12	82					3.07112e-06	3.77492e-06	0.080935	1	0
COL3A1	1281	broad.mit.edu	37	2	189870978	189870978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:189870978G>T	ENST00000304636.3	+	42	3256	c.3086G>T	c.(3085-3087)gGt>gTt	p.G1029V	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1029	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.G1029V(1)		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)	GGATCTCCTGGTGGCAAGGTA	0.368000													16	91					1.33834e-09	1.83632e-09	0.189662	1	0
PLXNA2	5362	broad.mit.edu	37	1	208270154	208270154	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:208270154C>A	ENST00000367033.3	-	7	2563	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	602					axon guidance	integral to membrane|intracellular|plasma membrane		p.V602V(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)		CCTGCCCCTCCACCTCTGTCA	0.562000													10	37					7.48243e-07	9.47927e-07	0.058154	1	0
PRDM9	56979	broad.mit.edu	37	5	23526524	23526524	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:23526524G>A	ENST00000296682.3	+	11	1509	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	443					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.D443N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCAATATCCAGATCCACACAG	0.473000										HNSCC(3;0.000094)			7	112					0	0	0.278610	0	0
ZNF304	57343	broad.mit.edu	37	19	57868358	57868358	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:57868358G>C	ENST00000391705.3	+	4	1405	c.1121G>C	c.(1120-1122)cGt>cCt	p.R374P	ZNF304_ENST00000598744.1_Missense_Mutation_p.R332P|ZNF304_ENST00000282286.5_Missense_Mutation_p.R374P|ZNF304_ENST00000443917.2_Missense_Mutation_p.R421P	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R374P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCCTTTAGCCGTAAAGACACA	0.448000													15	42					0	0	0.146539	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995890	140995890	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:140995890C>A	ENST00000285879.4	+	4	2986	c.2700C>A	c.(2698-2700)agC>agA	p.S900R	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	900							protein binding	p.S900R(1)		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)					TGATAGAGAGCGAGCCCTTGT	0.473000										HNSCC(15;0.026)			87	171					1.52795e-29	2.57568e-29	0.323286	1	0
C1orf173	127254	broad.mit.edu	37	1	75086594	75086594	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:75086594G>C	ENST00000326665.5	-	8	1042	c.824C>G	c.(823-825)tCa>tGa	p.S275*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S78*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	275								p.S275*(1)		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						AATCCTTCTTGAATCCTGAAA	0.318000													4	39					0	0	0.150653	0	0
PRDM9	56979	broad.mit.edu	37	5	23526569	23526569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:23526569G>T	ENST00000296682.3	+	11	1554	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	458					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E458*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGATCAAAGAAAGGTCCAA	0.483000										HNSCC(3;0.000094)			6	59					8.12818e-05	9.299e-05	0.248553	1	0
MUC7	4589	broad.mit.edu	37	4	71347269	71347269	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:71347269G>T	ENST00000413702.1	+	4	1096	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	MUC7_ENST00000304887.5_Missense_Mutation_p.D270Y|MUC7_ENST00000456088.1_Missense_Mutation_p.D270Y	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	270	Thr-rich.					extracellular region	protein binding	p.D270Y(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AACTACCCTAGACCCATCATC	0.592000													15	119					1.15088e-07	1.49941e-07	0.146539	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138770	126138770	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:126138770C>G	ENST00000299308.3	+	9	2759	c.2751C>G	c.(2749-2751)atC>atG	p.I917M	TMEM132B_ENST00000535886.1_Missense_Mutation_p.I429M	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	917						integral to membrane		p.I917M(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTTCTTGATCAACTGCGTGG	0.532000													11	64					0	0	0.093190	0	0
FCRL6	343413	broad.mit.edu	37	1	159783300	159783300	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:159783300C>A	ENST00000321935.6	+	8	1138	c.1052C>A	c.(1051-1053)cCa>cAa	p.P351Q	FCRL6_ENST00000392235.3_Missense_Mutation_p.P249Q|FCRL6_ENST00000368106.3_Missense_Mutation_p.P344Q|FCRL6_ENST00000339348.5_Missense_Mutation_p.P344Q			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	344						integral to membrane		p.P344Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCCCAGATACCACCCACAGCT	0.562000													3	58					0.115264	0.116677	0.115264	1	0
MUC17	140453	broad.mit.edu	37	7	100683669	100683669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:100683669G>C	ENST00000306151.4	+	3	9036	c.8972G>C	c.(8971-8973)aGt>aCt	p.S2991T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2991	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S2991T(1)		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)					CCATTAACAAGTATGTCTGTC	0.512000													41	220					0	0	0.290176	0	0
LRP1	4035	broad.mit.edu	37	12	57595378	57595378	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:57595378G>A	ENST00000243077.3	+	66	10910	c.10444G>A	c.(10444-10446)Ggc>Agc	p.G3482S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3482	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.G3482S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGTGGATGGCAGTGATGA	0.642000													6	37					0	0	0.217242	0	0
CDK15	65061	broad.mit.edu	37	2	202671456	202671456	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:202671456C>A	ENST00000450471.2	+	1	155	c.69C>A	c.(67-69)ggC>ggA	p.G23G	CDK15_ENST00000374598.4_Silent_p.G23G|CDK15_ENST00000434439.1_Silent_p.G23G|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000488419.1_3'UTR	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	23							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CAGAGGGAGGCGAGGCACACA	0.507000													6	37					0.0215528	0.022309	0.217242	1	0
SNX18	112574	broad.mit.edu	37	5	53814525	53814525	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:53814525C>T	ENST00000343017.6	+	1	937	c.743C>T	c.(742-744)gCg>gTg	p.A248V	SNX18_ENST00000326277.3_Missense_Mutation_p.A248V|SNX18_ENST00000381410.4_Missense_Mutation_p.A248V	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	248					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.A248V(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTGGGGGAGGCGTCAGGCTTC	0.672000													11	72					0	0	0.093190	0	0
DYSF	8291	broad.mit.edu	37	2	71839888	71839888	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:71839888C>T	ENST00000258104.3	+	39	4562	c.4285C>T	c.(4285-4287)Ctg>Ttg	p.L1429L	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.L1430L|DYSF_ENST00000410041.1_Silent_p.L1447L|DYSF_ENST00000394120.2_Silent_p.L1430L|DYSF_ENST00000429174.2_Silent_p.L1429L|DYSF_ENST00000413539.2_Silent_p.L1460L|DYSF_ENST00000410020.3_Silent_p.L1447L|DYSF_ENST00000409744.1_Silent_p.L1416L|DYSF_ENST00000409651.1_Silent_p.L1461L|DYSF_ENST00000409582.3_Silent_p.L1446L|DYSF_ENST00000409762.1_Silent_p.L1446L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1429						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L1447L(1)|p.L1429L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGAGCTTCCTGTGTGACCC	0.657000													7	21					0	0	0.248553	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62488849	62488849	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:62488849A>T	ENST00000301785.5	-	9	1721	c.1529T>A	c.(1528-1530)cTt>cAt	p.L510H	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.L510H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	510					cell killing	nucleus	ATP binding|nucleic acid binding	p.L510H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAACTAAAAGGTCTCGGCT	0.413000													27	291					0	0	0.163468	0	0
TNR	7143	broad.mit.edu	37	1	175355420	175355420	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:175355420G>C	ENST00000367674.1	-	8	2233	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E	TNR_ENST00000263525.2_Missense_Mutation_p.Q509E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	509	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.Q509E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCAGGATCTGCGTGGGGCCG	0.483000													2	18					0	0	0.150653	0	0
CR2	1380	broad.mit.edu	37	1	207649641	207649641	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:207649641G>T	ENST00000367057.3	+	15	2968	c.2779G>T	c.(2779-2781)Gct>Tct	p.A927S	CR2_ENST00000367058.3_Missense_Mutation_p.A868S|CR2_ENST00000458541.2_Missense_Mutation_p.A841S|CR2_ENST00000367059.3_Intron	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	868	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.A927S(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						TGGAAACATAGCTCGATTTTC	0.507000													4	79					0.00909568	0.00960746	0.150653	1	0
PTPN9	5780	broad.mit.edu	37	15	75816577	75816577	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:75816577C>G	ENST00000306726.2	-	3	782	c.270G>C	c.(268-270)gaG>gaC	p.E90D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	90	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.E90D(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGAGGATCTCAGAACGAA	0.393000													14	77					0	0	0.175082	0	0
ATP1A4	480	broad.mit.edu	37	1	160125911	160125911	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:160125911C>T	ENST00000368081.4	+	4	959	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	163					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S163F(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCAAGAGCTCCAAGATCATG	0.512000													14	72					0	0	0.132662	0	0
DGKZ	8525	broad.mit.edu	37	11	46389247	46389247	+	Missense_Mutation	SNP	T	T	G	rs34470543		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:46389247T>G	ENST00000454345.1	+	4	1008	c.883T>G	c.(883-885)Tcc>Gcc	p.S295A	DGKZ_ENST00000527911.1_Missense_Mutation_p.S106A|DGKZ_ENST00000421244.2_Missense_Mutation_p.S106A|DGKZ_ENST00000395574.3_Missense_Mutation_p.S72A|DGKZ_ENST00000532868.2_Missense_Mutation_p.S110A|DGKZ_ENST00000343674.6_Missense_Mutation_p.S123A|DGKZ_ENST00000318201.8_Missense_Mutation_p.S106A|DGKZ_ENST00000456247.2_Missense_Mutation_p.S106A|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	295					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.S106A(1)|p.S123A(1)|p.S295A(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GACCAACGTGTCCGGGGACTT	0.647000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	30					0	0	0.248553	0	0
LRFN5	145581	broad.mit.edu	37	14	42356586	42356586	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:42356586G>A	ENST00000554171.1	+	5	3190	c.758G>A	c.(757-759)cGt>cAt	p.R253H	LRFN5_ENST00000554120.1_Missense_Mutation_p.R253H|LRFN5_ENST00000298119.4_Missense_Mutation_p.R253H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	253	LRRCT.					integral to membrane		p.R253H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTGAGGCGTCTGTCCAGA	0.443000										HNSCC(30;0.082)			39	153					0	0	0.268233	0	0
XCL1	6375	broad.mit.edu	37	1	168549359	168549359	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:168549359G>A	ENST00000367818.3	+	2	285	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	40					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	p.L40L(1)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CCCAGCGACTGCCGGTTAGCA	0.473000													15	126					0	0	0.175082	0	0
ZNF721	170960	broad.mit.edu	37	4	437409	437409	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:437409C>A	ENST00000338977.5	-	2	859	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.G283C					zinc finger protein 721									p.G53C(1)|p.G283C(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGCTTTACCACATTCTAAA	0.378000													5	52					0.184627	0.185978	0.184627	1	0
BRINP3	339479	broad.mit.edu	37	1	190423887	190423887	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:190423887T>C	ENST00000367462.3	-	2	365	c.134A>G	c.(133-135)gAc>gGc	p.D45G	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.T7A	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		45						extracellular region		p.D45G(1)		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)					GAGGAGCCAGTCGAAGGGGCT	0.498000													5	25					0	0	0.184627	0	0
ASPM	259266	broad.mit.edu	37	1	197059495	197059495	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:197059495C>A	ENST00000367409.4	-	24	9916	c.9660G>T	c.(9658-9660)tgG>tgT	p.W3220C	ASPM_ENST00000367408.1_Missense_Mutation_p.W885C|ASPM_ENST00000294732.7_Missense_Mutation_p.W1635C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3220	IQ 39.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W3220C(1)		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						TTTTCTTCCTCCAAGAATAGC	0.303000													8	43					0.000157383	0.000177594	0.278610	1	0
PARD3B	117583	broad.mit.edu	37	2	206364739	206364739	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:206364739A>T	ENST00000406610.2	+	21	3371	c.3164A>T	c.(3163-3165)gAg>gTg	p.E1055V	PARD3B_ENST00000351153.1_Missense_Mutation_p.E986V|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.E954V|PARD3B_ENST00000358768.2_Missense_Mutation_p.E993V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1055					cell cycle|cell division	endomembrane system|tight junction		p.E994V(1)|p.E993V(1)|p.E986V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGGCCATCTGAGTATGACCTA	0.438000													45	157					0	0	0.323286	0	0
PRIM2	5558	broad.mit.edu	37	6	57398139	57398139	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:57398139C>T	ENST00000607273.1	+	10	929	c.842C>T	c.(841-843)aCc>aTc	p.T281I	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	281					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.T281I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TAGCTTTCTACCAAATCCTTC	0.368000													21	113					0	0	0.234183	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39567724	39567724	+	RNA	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:39567724G>A	ENST00000432258.1	+	0	2182				AC003958.2_ENST00000430006.1_RNA																							TCCAGCTGGCGCACCTTCTCC	0.577000													8	43					0	0	0.278610	0	0
ATP10B	23120	broad.mit.edu	37	5	160061467	160061467	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:160061467G>T	ENST00000327245.5	-	12	2121	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	425					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G425G(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGATCTGGCCCAAGTCCT	0.502000													22	94					2.39556e-15	3.71943e-15	0.264190	1	0
TIAM1	7074	broad.mit.edu	37	21	32537365	32537365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr21:32537365C>A	ENST00000286827.3	-	17	3376	c.2905G>T	c.(2905-2907)Gag>Tag	p.E969*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E909*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	969					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E969*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGCCCTGCTCGCTGCAAAGG	0.527000													5	45					0.014758	0.0153528	0.184627	1	0
KCNT2	343450	broad.mit.edu	37	1	196227445	196227445	+	Silent	SNP	A	A	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:196227445A>C	ENST00000367433.5	-	25	3119	c.3018T>G	c.(3016-3018)ggT>ggG	p.G1006G	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.G1030G|KCNT2_ENST00000367431.4_Silent_p.G964G|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1030						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G1030G(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCTGTTTTACCAGAGTGTT	0.473000													9	77					0	0	0.058154	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475331	50475331	+	RNA	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:50475331C>T	ENST00000602139.1	+	0	1277									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.R418C(1)|p.R380C(1)		endometrium(2)|kidney(2)|lung(6)	10						GGGCTCCCAGCGCGTCTCTCT	0.662000													7	41					0	0	0.248553	0	0
IL36A	27179	broad.mit.edu	37	2	113764288	113764288	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:113764288G>T	ENST00000259211.6	+	3	649	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	80					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.G80R(1)|p.G80W(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TGCTAAAGTCGGGGACCAGCC	0.483000													20	131					8.10497e-08	1.06604e-07	0.219247	1	0
XPO7	23039	broad.mit.edu	37	8	21860812	21860812	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:21860812T>C	ENST00000434536.1	+	26	3155	c.3053T>C	c.(3052-3054)aTa>aCa	p.I1018T	XPO7_ENST00000252512.9_Missense_Mutation_p.I1009T|XPO7_ENST00000433566.4_Missense_Mutation_p.I1010T			Q9UIA9	XPO7_HUMAN	exportin 7	1009					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.I1009T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTTGGCTTGATATTGCTTAAT	0.493000													2	13					0	0	0.115264	0	0
NEURL1	9148	broad.mit.edu	37	10	105330655	105330655	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:105330655A>G	ENST00000369780.4	+	2	521	c.112A>G	c.(112-114)Act>Gct	p.T38A	NEURL_ENST00000369777.2_Missense_Mutation_p.T21A	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		38					nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.T38A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTTCCCCGTCACTTCTCACCG	0.652000													48	234					0	0	0.323286	0	0
ZNF439	90594	broad.mit.edu	37	19	11978562	11978562	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:11978562C>T	ENST00000304030.2	+	3	878	c.678C>T	c.(676-678)ctC>ctT	p.L226L	ZNF439_ENST00000455282.1_Silent_p.L90L|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L226L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCCATTGTCTCAGTTTATATC	0.358000													23	116					0	0	0.249174	0	0
LRP1B	53353	broad.mit.edu	37	2	140995720	140995720	+	Splice_Site	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:140995720C>G	ENST00000389484.3	-	89	14532		c.e89+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(2)		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)		AGACATACTACCTTTGTTGGG	0.373000										TSP Lung(27;0.18)			12	99					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179449532	179449532	+	Silent	SNP	A	A	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:179449532A>C	ENST00000589042.1	-	310	65060	c.64836T>G	c.(64834-64836)gcT>gcG	p.A21612A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A19971A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A12547A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A12672A|TTN_ENST00000342175.6_Silent_p.A12739A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.A19044A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19971	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A12547A(1)|p.A19044A(1)|p.A12739A(1)|p.A12672A(1)|p.A19042A(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)			TTGTGACTGAAGCTAGAGCCG	0.517000													30	229					0	0	0.125774	0	0
C2orf66	401027	broad.mit.edu	37	2	197674027	197674027	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:197674027C>A	ENST00000342506.2	-	1	973	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	29						extracellular region		p.A29S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						AGCACCAGGGCAACACATAGT	0.498000													20	163					8.00594e-06	9.63981e-06	0.189662	1	0
EYA2	2139	broad.mit.edu	37	20	45702913	45702913	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:45702913C>A	ENST00000327619.5	+	7	974	c.600C>A	c.(598-600)tcC>tcA	p.S200S	EYA2_ENST00000317304.6_Silent_p.S200S|EYA2_ENST00000357410.3_Silent_p.S200S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	200					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.S200S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCTCCACGTCCACCTACGTCC	0.617000													19	40					1.96292e-10	2.82469e-10	0.219247	1	0
CPZ	8532	broad.mit.edu	37	4	8616159	8616159	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:8616159C>T	ENST00000429646.2	+	7	3054	c.261C>T	c.(259-261)ccC>ccT	p.P87P	CPZ_ENST00000382480.2_Silent_p.P342P|CPZ_ENST00000315782.6_Silent_p.P468P|CPZ_ENST00000360986.4_Silent_p.P479P			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	479	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.P479P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAGTTCCCCCCCGAGGAGG	0.572000													7	27					0	0	0.248553	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144915608	144915608	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:144915608C>A	ENST00000529945.1	-	10	2745	c.2306G>T	c.(2305-2307)gGa>gTa	p.G769V	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.G606V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G606V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.G393V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G672V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G743V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.G606V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G606V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G769V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G743V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	606					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.G606V(2)|p.G769V(1)		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)		CTGCCCTGGTCCAAGTTTGCA	0.468000			T	PDGFRB	MPD								20	107					8.04996e-18	1.27381e-17	0.234183	1	0
ASXL3	80816	broad.mit.edu	37	18	31323961	31323961	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr18:31323961C>T	ENST00000269197.5	+	12	4149	c.4149C>T	c.(4147-4149)gcC>gcT	p.A1383A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.A1383A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGAACAGGCCACTGTATCCA	0.507000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	71					0	0	0.080935	0	0
ABCC9	10060	broad.mit.edu	37	12	21998656	21998656	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:21998656G>T	ENST00000261200.4	-	24	2976	c.2977C>A	c.(2977-2979)Ctg>Atg	p.L993M	ABCC9_ENST00000261201.4_Missense_Mutation_p.L993M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.L957M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	993					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.L993M(2)		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)	AGGATGAGCAGGAAGAATCCT	0.448000													15	55					1.05317e-09	1.46451e-09	0.119110	1	0
KRT14	3861	broad.mit.edu	37	17	39739908	39739908	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:39739908C>T	ENST00000167586.6	-	5	1034	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	316	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.E316E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGGCCACCTCGCGGTTCA	0.587000													23	102					0	0	0.294199	0	0
TATDN3	128387	broad.mit.edu	37	1	212976051	212976051	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:212976051T>A	ENST00000366974.4	+	5	361	c.267T>A	c.(265-267)gaT>gaA	p.D89E	TATDN3_ENST00000531963.1_Missense_Mutation_p.D89E|TATDN3_ENST00000366973.4_Missense_Mutation_p.D89E|TATDN3_ENST00000526997.1_Missense_Mutation_p.D89E|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.D89E|TATDN3_ENST00000530441.1_Missense_Mutation_p.M61K|TATDN3_ENST00000526641.1_Intron	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	89						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.D89E(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AGGATTTGGATGTAGCTTTGC	0.383000													14	86					0	0	0.132662	0	0
VNN2	8875	broad.mit.edu	37	6	133073886	133073886	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:133073886G>C	ENST00000326499.6	-	4	664	c.540C>G	c.(538-540)taC>taG	p.Y180*	VNN2_ENST00000525270.1_Nonsense_Mutation_p.Y127*|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	180	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.Y180*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGTACAGGTGGTACTACAACA	0.403000													11	92					0	0	0.080935	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592057	22592057	+	RNA	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:22592057G>T	ENST00000390455.3	+	0	351																											CAGTGGAAATGAGTATGTGTA	0.443000													11	50					3.07112e-06	3.77492e-06	0.080935	1	0
RYR2	6262	broad.mit.edu	37	1	237921011	237921011	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:237921011A>T	ENST00000366574.2	+	82	11577	c.11260A>T	c.(11260-11262)Atg>Ttg	p.M3754L	RYR2_ENST00000542537.1_Missense_Mutation_p.M3738L|RYR2_ENST00000360064.6_Missense_Mutation_p.M3760L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3754					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.M3752L(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)			AACTGGACCAATGGTAGCAGC	0.353000													16	82					0	0	0.160694	0	0
BRCA1	672	broad.mit.edu	37	17	41251814	41251814	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:41251814C>A	ENST00000357654.3	-	7	643	c.525G>T	c.(523-525)aaG>aaT	p.K175N	BRCA1_ENST00000346315.3_Missense_Mutation_p.K175N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.K175N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.K175N|BRCA1_ENST00000354071.3_Missense_Mutation_p.K175N|BRCA1_ENST00000471181.2_Missense_Mutation_p.K175N|BRCA1_ENST00000493795.1_Missense_Mutation_p.K128N|BRCA1_ENST00000491747.2_Missense_Mutation_p.K175N|BRCA1_ENST00000352993.3_Missense_Mutation_p.K175N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	175					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K175N(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGACAGACGTCTTTTGAGGTT	0.383000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			31	173					6.53348e-20	1.05403e-19	0.193644	1	0
GSPT2	23708	broad.mit.edu	37	X	51486791	51486791	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:51486791G>T	ENST00000340438.4	+	1	311	c.69G>T	c.(67-69)ccG>ccT	p.P23P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	23			P -> T (in dbSNP:rs17855593).		cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.P23P(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TGGAATCCCCGGGGTCGGCCC	0.667000													4	33					0.014758	0.0153528	0.184627	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117417770	117417770	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:117417770C>G	ENST00000160373.3	-	8	2664	c.2573G>C	c.(2572-2574)aGc>aCc	p.S858T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	858								p.S858N(1)|p.S858T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGCTTGAGGCTGTCCACATT	0.448000													10	73					0	0	0.058154	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509280	71509280	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:71509280T>C	ENST00000265382.3	+	8	802	c.497T>C	c.(496-498)cTt>cCt	p.L166P	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.L166P	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	166	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.L166P(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCAAGGACTCTTTTGCCAAAA	0.338000													18	100					0	0	0.189662	0	0
CPED1	79974	broad.mit.edu	37	7	120765938	120765938	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:120765938G>T	ENST00000310396.5	+	9	1593	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	CPED1_ENST00000450913.2_Missense_Mutation_p.V376L|CPED1_ENST00000423795.1_Missense_Mutation_p.V156L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.V376L(1)									GTACCCTGTAGTGCTCCAGGT	0.393000													10	56					0.000442599	0.000490063	0.058154	1	0
ALG11	440138	broad.mit.edu	37	13	52602691	52602691	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:52602691A>G	ENST00000521508.1	+	4	1449	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.T482A(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ATTTGAAGTGACATTCCTATC	0.323000													13	34					0	0	0.105934	0	0
PLCE1	51196	broad.mit.edu	37	10	95892185	95892185	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:95892185T>A	ENST00000260766.3	+	3	2095	c.1461T>A	c.(1459-1461)ttT>ttA	p.F487L	PLCE1_ENST00000371385.3_Missense_Mutation_p.F179L|PLCE1_ENST00000371380.2_Missense_Mutation_p.F487L|PLCE1_ENST00000371375.1_Missense_Mutation_p.F179L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	487					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.F179L(1)|p.F487L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTACTTTTGGAGGATCCA	0.433000													19	107					0	0	0.219247	0	0
CUL7	9820	broad.mit.edu	37	6	43018826	43018826	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:43018826C>G	ENST00000535468.1	-	4	1451	c.1365G>C	c.(1363-1365)ttG>ttC	p.L455F	CUL7_ENST00000265348.3_Missense_Mutation_p.L371F	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	371	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L371F(1)		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)			CCCGCACATACAAAGCATAGG	0.592000													26	49					0	0	0.294199	0	0
GP2	2813	broad.mit.edu	37	16	20329664	20329664	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:20329664C>A	ENST00000302555.5	-	7	1245	c.1096G>T	c.(1096-1098)Ggg>Tgg	p.G366W	GP2_ENST00000381362.4_Missense_Mutation_p.G369W|GP2_ENST00000381360.5_Missense_Mutation_p.G222W|GP2_ENST00000341642.5_Missense_Mutation_p.G219W			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	369	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G366W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACTGCATCCCCTTCGTAAGGA	0.507000													42	146					3.43241e-23	5.73922e-23	0.279185	1	0
MMD2	221938	broad.mit.edu	37	7	4965100	4965100	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:4965100G>T	ENST00000404774.3	-	2	305	c.111C>A	c.(109-111)gcC>gcA	p.A37A	MMD2_ENST00000401401.3_Silent_p.A37A|MMD2_ENST00000406755.1_Silent_p.A37A	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	37						integral to membrane	receptor activity	p.A37A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGGCACAGTTGGCCGCATGTT	0.602000													11	126					5.50884e-06	6.67199e-06	0.093190	1	0
TRPA1	8989	broad.mit.edu	37	8	72973915	72973915	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:72973915C>A	ENST00000262209.4	-	7	1096	c.889G>T	c.(889-891)Ggt>Tgt	p.G297C		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	297						integral to plasma membrane		p.G297C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCCACGCTACCAGAATAGGAC	0.428000													23	117					2.44723e-14	3.74336e-14	0.309145	1	0
AGBL5	60509	broad.mit.edu	37	2	27292958	27292958	+	Splice_Site	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:27292958A>T	ENST00000360131.4	+	15	2648		c.e15-1			NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5						protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGTTGCAGGCTGCCTCA	0.547000													12	73					0	0	0.119110	0	0
EP400	57634	broad.mit.edu	37	12	132539519	132539519	+	Splice_Site	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:132539519G>C	ENST00000333577.4	+	45	7946	c.7836_splice	c.e45-1	p.A2613_splice	EP400_ENST00000332482.4_Splice_Site_p.A2540_splice|EP400_ENST00000389562.2_Splice_Site_p.A2576_splice|EP400_ENST00000389561.2_Splice_Site_p.A2577_splice|EP400_ENST00000330386.6_Splice_Site_p.A2496_splice			Q96L91	EP400_HUMAN	E1A binding protein p400	2613	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.A2576P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTTTAAATAGGCAGGAACCAT	0.428000													5	45					0	0	0.248553	0	0
BTNL3	10917	broad.mit.edu	37	5	180419856	180419856	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:180419856G>T	ENST00000342868.6	+	2	277	c.93G>T	c.(91-93)ttG>ttT	p.L31F		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	31					lipid metabolic process	integral to membrane		p.L31F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCCAGGCCTTGGTGGGGGAGG	0.542000													10	21					0.00136819	0.00149093	0.093190	1	0
TEAD1	7003	broad.mit.edu	37	11	12886397	12886397	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:12886397A>G	ENST00000361905.4	+	5	900	c.235A>G	c.(235-237)Att>Gtt	p.I79V	TEAD1_ENST00000334310.6_Missense_Mutation_p.I79V|TEAD1_ENST00000527575.1_Missense_Mutation_p.I94V|TEAD1_ENST00000361985.2_Missense_Mutation_p.I94V|TEAD1_ENST00000527636.1_Missense_Mutation_p.I94V	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	94					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.I79V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCTAGTCACATTCAGGTTCT	0.473000													25	110					0	0	0.125774	0	0
TBX20	57057	broad.mit.edu	37	7	35242211	35242211	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:35242211C>T	ENST00000408931.3	-	8	1701	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	392						nucleus	DNA binding	p.R392Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CATTCCCAGTCGGCTATATGG	0.552000													9	34					0	0	0.069234	0	0
FABP12	646486	broad.mit.edu	37	8	82437306	82437306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:82437306G>T	ENST00000360464.4	-	4	460	c.398C>A	c.(397-399)tCa>tAa	p.S133*	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	133							lipid binding|transporter activity	p.S133*(1)		large_intestine(1)|lung(3)	4						TGAGTTTGATGATACTTTCTC	0.323000													4	15					0.00024832	0.000278685	0.150653	1	0
TRIM39	56658	broad.mit.edu	37	6	30309955	30309955	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:30309955G>T	ENST00000376659.5	+	8	1984	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TRIM39_ENST00000540416.1_Missense_Mutation_p.W462C|TRIM39_ENST00000376656.4_Missense_Mutation_p.W492C|TRIM39_ENST00000396551.3_Missense_Mutation_p.W462C|TRIM39_ENST00000396547.1_Missense_Mutation_p.W492C|TRIM39_ENST00000396548.1_Missense_Mutation_p.W462C|TRIM39-RPP21_ENST00000513556.1_Intron	NM_172016.2	NP_742013.1			tripartite motif containing 39									p.W492C(1)		ovary(3)	3						AGAAACTTTGGCCCCTCTTCT	0.507000													8	34					3.09899e-07	3.98717e-07	0.307466	1	0
ARFGAP1	55738	broad.mit.edu	37	20	61910347	61910347	+	Splice_Site	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:61910347G>T	ENST00000370275.4	+	7	719	c.627_splice	c.e7+1	p.S209_splice	ARFGAP1_ENST00000353546.3_Splice_Site_p.S209_splice|ARFGAP1_ENST00000519273.2_Splice_Site_p.S96_splice|ARFGAP1_ENST00000519604.1_Splice_Site_p.S156_splice|ARFGAP1_ENST00000370283.4_Splice_Site_p.S209_splice|ARFGAP1_ENST00000547204.1_Splice_Site_p.S135_splice			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	209					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	p.S209S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCCTGTACTCGGTGAGGACTT	0.612000													8	19					5.18039e-06	6.31121e-06	0.278610	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													5	19					0	0	0.184627	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032338	9032338	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:9032338G>A	ENST00000383836.3	-	21	3171	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A891V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	915					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A915V(1)	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)		CCCGAACGTCGCCATCCTCCG	0.652000			T	RAF1	pilocytic astrocytoma								5	12					0	0	0.184627	0	0
UNC79	57578	broad.mit.edu	37	14	94158119	94158119	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:94158119C>G	ENST00000553484.1	+	48	7634	c.7480C>G	c.(7480-7482)Ctc>Gtc	p.L2494V	UNC79_ENST00000393151.2_Missense_Mutation_p.L2472V|UNC79_ENST00000256339.4_Missense_Mutation_p.L2295V|UNC79_ENST00000555664.1_Missense_Mutation_p.L2433V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2472						integral to membrane		p.L2295V(1)|p.L2494V(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						CATGTGCTCCCTCTTCCACGC	0.542000													9	44					0	0	0.069234	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869019	36869019	+	Missense_Mutation	SNP	G	G	T	rs144867582		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:36869019G>T	ENST00000279024.4	-	3	1785	c.1514C>A	c.(1513-1515)tCt>tAt	p.S505Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	505								p.S505Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGTTTAGGAGAGTAGAGGGA	0.502000													39	83					7.04047e-22	1.15386e-21	0.225048	1	0
ZC3H3	23144	broad.mit.edu	37	8	144620288	144620288	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:144620288C>A	ENST00000262577.5	-	2	1280	c.1249G>T	c.(1249-1251)Ggg>Tgg	p.G417W		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	417					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.G417W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGTCTGTCCCCCGACGGGGAC	0.632000													6	70					0.00116845	0.00127663	0.217242	1	0
UGT2B28	54490	broad.mit.edu	37	4	70160247	70160247	+	Splice_Site	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:70160247G>C	ENST00000335568.5	+	6	1312		c.e6-1		UGT2B28_ENST00000511240.1_Splice_Site	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTATCCTTCAGATATAAAGAG	0.333000													12	76					0	0	0.132662	0	0
SYTL5	94122	broad.mit.edu	37	X	37984682	37984682	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:37984682T>C	ENST00000357972.5	+	16	2519	c.1973T>C	c.(1972-1974)cTa>cCa	p.L658P	SYTL5_ENST00000456733.2_Missense_Mutation_p.L680P|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.L658P			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	658	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.L658P(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AATGTTTGCCTAGAACTTACT	0.438000													12	101					0	0	0.080935	0	0
TDRD6	221400	broad.mit.edu	37	6	46660740	46660740	+	Silent	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:46660740G>C	ENST00000544460.1	+	1	5129	c.4875G>C	c.(4873-4875)ctG>ctC	p.L1625L	TDRD6_ENST00000316081.6_Silent_p.L1625L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1625	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.L1625L(1)		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)			CTGAACTTCTGTCGGTTCCCA	0.408000													28	117					0	0	0.163468	0	0
MED23	9439	broad.mit.edu	37	6	131943063	131943063	+	Silent	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:131943063T>A	ENST00000403834.3	-	6	626	c.453A>T	c.(451-453)acA>acT	p.T151T	MED23_ENST00000539158.1_Silent_p.T151T|MED23_ENST00000368060.3_Silent_p.T151T|MED23_ENST00000368058.1_Silent_p.T151T|MED23_ENST00000368068.3_Silent_p.T151T|MED23_ENST00000368053.4_Silent_p.T151T|MED23_ENST00000354577.4_Silent_p.T151T|MED23_ENST00000540546.1_Silent_p.T151T			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	151					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.T151T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAGAGCTCACTGTATTAGGAA	0.358000													24	107					0	0	0.309145	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033901	21033901	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:21033901C>T	ENST00000381545.3	+	12	1663	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.L482L|LST3_ENST00000540229.1_Silent_p.L482L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.L482L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	482	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.L482L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATAACTTACCTGTCACCTTG	0.393000													20	122					0	0	0.264190	0	0
C6	729	broad.mit.edu	37	5	41142965	41142965	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:41142965T>G	ENST00000263413.3	-	18	3031	c.2767A>C	c.(2767-2769)Aag>Cag	p.K923Q	C6_ENST00000337836.5_Missense_Mutation_p.K923Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	923	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K923Q(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)				ATTTCCATCTTCCTGTTTGCA	0.433000													11	191					0	0	0.105934	0	0
MON2	23041	broad.mit.edu	37	12	62981934	62981934	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:62981934A>G	ENST00000393630.3	+	35	5382	c.4991A>G	c.(4990-4992)aAt>aGt	p.N1664S	MON2_ENST00000546600.1_Missense_Mutation_p.N1663S|MON2_ENST00000551397.1_Missense_Mutation_p.N37S|MON2_ENST00000280379.6_Missense_Mutation_p.N1664S|MON2_ENST00000552738.1_Missense_Mutation_p.N1634S|MON2_ENST00000393632.2_Missense_Mutation_p.N1663S|MON2_ENST00000393629.2_Missense_Mutation_p.N1657S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1664					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.N1663S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAGCCTGAGAATGGTAAGTGC	0.299000													7	16					0	0	0.058154	0	0
BSN	8927	broad.mit.edu	37	3	49699759	49699759	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:49699759G>T	ENST00000296452.4	+	6	10595	c.10481G>T	c.(10480-10482)cGa>cTa	p.R3494L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3494					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R3494L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGGGTACGACCCCCCATG	0.687000													3	22					0.004672	0.00498588	0.115264	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23213997	23213997	+	RNA	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr22:23213997A>T	ENST00000390318.2	+	0	186																											CACCTACACCATCGAATGGTA	0.572000													13	101					0	0	0.119110	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142161986	142161986	+	RNA	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:142161986G>T	ENST00000390371.3	-	0	332																											GCCAACTCCAGCCTGAGCGGG	0.502000													100	188					1.95947e-40	3.33029e-40	0.323286	1	0
CCSER2	54462	broad.mit.edu	37	10	86259667	86259667	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:86259667G>T	ENST00000224756.8	+	10	2547	c.2362G>T	c.(2362-2364)Ggc>Tgc	p.G788C	CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000543283.1_Missense_Mutation_p.G215C	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2									p.G788C(1)									TCCTTGGCAGGGCTCCTTCCA	0.527000													8	85					3.09899e-07	3.98717e-07	0.307466	1	0
CSRNP3	80034	broad.mit.edu	37	2	166535484	166535484	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:166535484G>A	ENST00000314499.7	+	7	1355	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	CSRNP3_ENST00000409420.1_Missense_Mutation_p.V359M|CSRNP3_ENST00000342316.4_Missense_Mutation_p.V327M	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	327	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V327M(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCAGGCTGCAGTGCTGCACCT	0.507000													29	66					0	0	0.125774	0	0
COL6A1	1291	broad.mit.edu	37	21	47423462	47423462	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr21:47423462G>T	ENST00000361866.3	+	35	2736	c.2622G>T	c.(2620-2622)gcG>gcT	p.A874A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	874	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.A874A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGCGGGTGGCGGTGGTGCAGT	0.697000													10	25					1.11149e-13	1.68149e-13	0.069234	1	0
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													6	53					0	0	0.069234	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507380	74507380	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:74507380C>T	ENST00000354431.4	-	7	1426	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R412K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	412								p.R412K(1)		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						CATACCAGCTCTTTGTGGTGC	0.368000													37	82					0	0	0.214465	0	0
PNPT1	87178	broad.mit.edu	37	2	55894127	55894127	+	Splice_Site	SNP	T	T	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:55894127T>A	ENST00000447944.2	-	13	1261	c.1176_splice	c.e13+1	p.Q392_splice		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	392					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.Q392L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAAATTACCTGTGTTTGTCC	0.318000													7	48					0	0	0.248553	0	0
SMS	6611	broad.mit.edu	37	X	22010739	22010739	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:22010739G>T	ENST00000404933.2	+	10	1222	c.970G>T	c.(970-972)Gca>Tca	p.A324S	SMS_ENST00000379404.1_Missense_Mutation_p.A271S|SMS_ENST00000415881.2_Missense_Mutation_p.A228S	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	324					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	p.A324S(1)|p.A228S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TCTGACAGAAGCACTGTCGCT	0.443000													7	54					2.74318e-10	3.90667e-10	0.058154	1	0
TRPC7	57113	broad.mit.edu	37	5	135692916	135692916	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:135692916C>A	ENST00000513104.1	-	2	442	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	TRPC7_ENST00000355180.3_Missense_Mutation_p.G54C|TRPC7_ENST00000426057.2_Missense_Mutation_p.G54C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	54					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.G54C(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGATGTTGCCATACTCAGCC	0.622000													17	114					6.94344e-10	9.75388e-10	0.175082	1	0
WNT8B	7479	broad.mit.edu	37	10	102242208	102242208	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:102242208C>T	ENST00000343737.5	+	6	819	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	231					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R231C(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CGCGGCCGGCCGCGGCGCCAT	0.667000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	0.150653	0	0
DST	667	broad.mit.edu	37	6	56472096	56472096	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:56472096A>G	ENST00000370754.5	-	39	7230	c.7231T>C	c.(7231-7233)Ttg>Ctg	p.L2411L	DST_ENST00000446842.2_Silent_p.L1907L|DST_ENST00000370769.4_Silent_p.L2233L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.L2233L|DST_ENST00000361203.3_Silent_p.L2233L|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	2233	Asp-rich.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTGCATCAATTTATCATGA	0.408000													26	74					0	0	0.116897	0	0
VPS13A	23230	broad.mit.edu	37	9	79890422	79890422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:79890422G>T	ENST00000360280.3	+	25	2781	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E841*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E841*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E841*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	841					Golgi to endosome transport|protein transport	intracellular	protein binding	p.E840_E841>D*(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATTCAGAGGAGGAATTTTT	0.308000													10	88					0.000442599	0.000490063	0.058154	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14852116	14852116	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr18:14852116G>T	ENST00000358984.4	+	36	3996	c.3816G>T	c.(3814-3816)caG>caT	p.Q1272H		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1357								p.Q1272H(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGAAACACAGTGTCAAATGA	0.368000													6	20					0.00198382	0.00213921	0.248553	1	0
HOXD10	3236	broad.mit.edu	37	2	176981647	176981647	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:176981647C>A	ENST00000249501.4	+	1	341	c.86C>A	c.(85-87)tCc>tAc	p.S29Y	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	29						nucleus	sequence-specific DNA binding	p.S29Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGTTTTTATTCCAGCAGCGCC	0.488000													34	84					3.11337e-16	4.87054e-16	0.173368	1	0
DACT1	51339	broad.mit.edu	37	14	59112610	59112610	+	Silent	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:59112610A>G	ENST00000395153.3	+	4	1305	c.1158A>G	c.(1156-1158)tcA>tcG	p.S386S	DACT1_ENST00000335867.4_Silent_p.S423S|DACT1_ENST00000395151.3_Silent_p.S142S|DACT1_ENST00000556859.1_Silent_p.S142S|DACT1_ENST00000541264.2_Silent_p.S142S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	423					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S423S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGAAAGAATCAAAGGCCGAAC	0.567000													5	23					0	0	0.184627	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431512	140431512	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140431512C>T	ENST00000306549.3	+	1	534	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		153	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P153S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCACGTTTTCCTCTGCAGAG	0.527000													8	31					0	0	0.058154	0	0
CNTN3	5067	broad.mit.edu	37	3	74350861	74350861	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr3:74350861C>G	ENST00000263665.6	-	14	1909	c.1882G>C	c.(1882-1884)Gtt>Ctt	p.V628L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	628	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V628L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TAGGATATAACTGGGCTATGG	0.463000													10	55					0	0	0.069234	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917755	10917755	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:10917755G>A	ENST00000272238.4	+	11	979	c.870G>A	c.(868-870)ccG>ccA	p.P290P	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	290					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.P290P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCACCTTCCCGGACCACAAGG	0.483000													39	88					0	0	0.246493	0	0
OC90	729330	broad.mit.edu	37	8	133053357	133053357	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:133053357C>A	ENST00000262283.5	-	9	1078	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	OC90_ENST00000254627.3_Missense_Mutation_p.D131Y|OC90_ENST00000443356.2_Missense_Mutation_p.D131Y|OC90_ENST00000603859.1_Missense_Mutation_p.D131Y			Q02509	OC90_HUMAN	otoconin 90	131	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.D327Y(1)|p.D137Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGGAGACAGTCCATCTCAGCG	0.587000													27	114					4.31634e-10	6.10495e-10	0.163468	1	0
FLG	2312	broad.mit.edu	37	1	152286898	152286898	+	Missense_Mutation	SNP	C	C	A	rs113297198		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:152286898C>A	ENST00000368799.1	-	3	499	c.464G>T	c.(463-465)aGt>aTt	p.S155I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	155					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S155I(1)		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)			TTTTTCAGAACTAGATTCATG	0.353000									Ichthyosis				26	150					5.45024e-15	8.39906e-15	0.279207	1	0
CCM2	83605	broad.mit.edu	37	7	45104118	45104118	+	Silent	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:45104118G>C	ENST00000381112.3	+	4	1087	c.408G>C	c.(406-408)ctG>ctC	p.L136L	CCM2_ENST00000474617.1_Silent_p.L109L|CCM2_ENST00000544363.1_Silent_p.L115L|CCM2_ENST00000541586.1_Silent_p.L57L|CCM2_ENST00000258781.6_Silent_p.L115L|CCM2_ENST00000475551.1_Silent_p.L109L|CCM2_ENST00000461377.1_3'UTR	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	115	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	p.L136L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTCAGCCTGTCTGCGTACA	0.582000													6	24					0	0	0.217242	0	0
IFT88	8100	broad.mit.edu	37	13	21166510	21166510	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr13:21166510C>T	ENST00000382778.4	+	8	1510	c.392C>T	c.(391-393)cCt>cTt	p.P131L	IFT88_ENST00000351808.5_Missense_Mutation_p.P122L|IFT88_ENST00000537103.1_Missense_Mutation_p.P103L|IFT88_ENST00000319980.6_Missense_Mutation_p.P131L			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	131					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.P131L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAAGGGGCCCTGCTTCCCCT	0.353000													21	57					0	0	0.264190	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965609	7965609	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:7965609G>A	ENST00000306708.6	+	3	2303	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	734						integral to membrane		p.L734L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						ACAACCAGCTGAGCCAGCTCT	0.632000													8	51					0	0	0.307466	0	0
ASAH1	427	broad.mit.edu	37	8	17942257	17942257	+	Silent	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:17942257G>C	ENST00000381733.4	-	1	220	c.54C>G	c.(52-54)tcC>tcG	p.S18S	ASAH1_ENST00000314146.10_Silent_p.S18S|ASAH1_ENST00000520051.1_5'UTR	NM_004315.4	NP_004306.3	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	0					ceramide metabolic process	lysosome	ceramidase activity	p.S18S(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GACTTGGGTAGGAGGCCCGGT	0.592000											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0.115264	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768141	13768141	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:13768141C>T	ENST00000279593.3	-	7	1770	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	521					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	p.E521K(1)		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)	TCGACCACCTCCGATCGTTCC	0.502000													6	57					0	0	0.248553	0	0
DNAH6	1768	broad.mit.edu	37	2	84775457	84775457	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:84775457A>G	ENST00000389394.3	+	8	1369	c.1232A>G	c.(1231-1233)cAt>cGt	p.H411R	DNAH6_ENST00000237449.6_Missense_Mutation_p.H411R|DNAH6_ENST00000398278.2_Missense_Mutation_p.H411R	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	411	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H411R(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATACACCACATGAGTTGCCC	0.383000													8	59					0	0	0.278610	0	0
CADM1	23705	broad.mit.edu	37	11	115080337	115080337	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:115080337G>A	ENST00000537058.1	-	8	1055	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T345T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T345T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	345				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T345T(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggtggtggttg	0.433000													5	44					0	0	0.184627	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													4	38					0	0	0.150653	0	0
XCL2	6846	broad.mit.edu	37	1	168511287	168511287	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:168511287C>T	ENST00000367819.2	-	2	152	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	40					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.L40L(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGCTAACTGGCAGTCGCTGGG	0.483000													8	56					0	0	0.058154	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747161	26747161	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr22:26747161C>A	ENST00000529632.2	+	12	2747	c.2551C>A	c.(2551-2553)Cgt>Agt	p.R851S	SEZ6L_ENST00000411842.2_Missense_Mutation_p.R48S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R851S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R624S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R851S|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R624S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R851S	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	851	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.R851S(1)		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						CTGCTACAGCCGTGAAACAGG	0.532000													19	43					1.10923e-09	1.53215e-09	0.264190	1	0
ACSM5	54988	broad.mit.edu	37	16	20429494	20429494	+	Silent	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:20429494G>C	ENST00000331849.4	+	3	465	c.318G>C	c.(316-318)ctG>ctC	p.L106L	ACSM5_ENST00000575584.1_Silent_p.L106L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAATGTGCTGGGGGGTGCAT	0.617000													9	33					0	0	0.058154	0	0
RBM24	221662	broad.mit.edu	37	6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:17292081C>A	ENST00000379052.5	+	4	678	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	148	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592000													14	90					4.36969e-10	6.15932e-10	0.105934	1	0
MS4A1	931	broad.mit.edu	37	11	60235910	60235910	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:60235910C>A	ENST00000534668.1	+	7	1152	c.863C>A	c.(862-864)tCc>tAc	p.S288Y	MS4A1_ENST00000532073.1_Missense_Mutation_p.S275Y|MS4A1_ENST00000389939.2_Missense_Mutation_p.S288Y|MS4A1_ENST00000345732.4_Missense_Mutation_p.S288Y|MS4A1_ENST00000528313.1_Missense_Mutation_p.S121Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	288					B cell activation|immune response	integral to plasma membrane		p.S288Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GATCAGGAATCCTCACCAATA	0.378000													4	68					3.59834e-05	4.24604e-05	0.217242	1	0
FAM135B	51059	broad.mit.edu	37	8	139180172	139180172	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr8:139180172G>C	ENST00000395297.1	-	12	1394	c.1224C>G	c.(1222-1224)atC>atG	p.I408M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	408								p.I408M(2)		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)			TGTCCTCAAAGATCACCGGCA	0.542000										HNSCC(54;0.14)			25	152					0	0	0.294199	0	0
WNK4	65266	broad.mit.edu	37	17	40933017	40933017	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:40933017A>G	ENST00000246914.5	+	1	322	c.301A>G	c.(301-303)Agc>Ggc	p.S101G		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	101					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.S89G(1)|p.S101G(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)		CCCACCGCCTAGCTCCAAAGA	0.726000													7	18					0	0	0.278610	0	0
ATG2A	23130	broad.mit.edu	37	11	64678617	64678617	+	Silent	SNP	C	C	A	rs151243555		TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr11:64678617C>A	ENST00000421419.2	-	10	1473	c.1359G>T	c.(1357-1359)acG>acT	p.T453T	ATG2A_ENST00000377264.3_Silent_p.T453T			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	453							protein binding	p.T453T(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGAAAAAGTGCGTGGCGAGGT	0.607000													4	52					0.00024832	0.000278685	0.150653	1	0
BSND	7809	broad.mit.edu	37	1	55472787	55472787	+	Silent	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:55472787C>T	ENST00000371265.4	+	3	644	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	130						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.S130S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCACCGCTCCTTGCTGGCCC	0.607000													5	55					0	0	0.248553	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	57					0	0	0.150653	0	0
FHOD3	80206	broad.mit.edu	37	18	34310681	34310681	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr18:34310681G>T	ENST00000257209.4	+	17	3087	c.2965G>T	c.(2965-2967)Ggt>Tgt	p.G989C	FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164C|FHOD3_ENST00000359247.4_Missense_Mutation_p.G972C|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951C|FHOD3_ENST00000591635.1_Missense_Mutation_p.G185C|FHOD3_ENST00000592128.1_5'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	972	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.G989C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CATCAATATTGGTCTGACGGT	0.428000													14	87					3.27435e-08	4.33432e-08	0.119110	1	0
WDFY3	23001	broad.mit.edu	37	4	85660237	85660237	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:85660237C>A	ENST00000322366.6	-	40	6907	c.6500G>T	c.(6499-6501)cGc>cTc	p.R2167L	WDFY3_ENST00000295888.4_Missense_Mutation_p.R2167L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2167						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R2167L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTGGTCATGCGGGCTTCTGC	0.413000													12	79					3.27435e-08	4.33432e-08	0.119110	1	0
FUBP1	8880	broad.mit.edu	37	1	78425923	78425923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:78425923G>A	ENST00000370767.1	-	16	1609	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q529*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q508*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	508	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.Q508*(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCCCATCCCTGGGGAGCATAT	0.438000			"""F, N"""		oligodendroglioma								11	62					0	0	0.069234	0	0
KIF21B	23046	broad.mit.edu	37	1	200960801	200960801	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:200960801C>T	ENST00000332129.2	-	17	2754	c.2438G>A	c.(2437-2439)aGg>aAg	p.R813K	KIF21B_ENST00000461742.2_Missense_Mutation_p.R813K|KIF21B_ENST00000422435.2_Missense_Mutation_p.R813K|KIF21B_ENST00000360529.5_Missense_Mutation_p.R813K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	813					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R813K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCTTCCTCCTCAGGACCAT	0.607000													7	39					0	0	0.058154	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331296	17331296	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:17331296G>A	ENST00000452699.1	-	5	557	c.368C>T	c.(367-369)tCc>tTc	p.S123F	ATP13A2_ENST00000341676.5_Missense_Mutation_p.S123F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.S123F	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	123					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S123F(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)		CTCTGCCTGGGACTGTGGGGA	0.662000													13	78					0	0	0.119110	0	0
ZNF107	51427	broad.mit.edu	37	7	64167304	64167304	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:64167304A>T	ENST00000395391.1	+	4	1997	c.622A>T	c.(622-624)Ata>Tta	p.I208L	ZNF107_ENST00000423627.1_Missense_Mutation_p.I208L|ZNF107_ENST00000344930.3_Missense_Mutation_p.I208L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I208L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TATACATAAAATAATTCATAC	0.368000													10	72					0	0	0.058154	0	0
OR2M7	391196	broad.mit.edu	37	1	248487249	248487249	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:248487249C>T	ENST00000317965.2	-	1	650	c.622G>A	c.(622-624)Gtt>Att	p.V208I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V208I(1)		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)			ACAGGGAAAACAAGCATTACT	0.428000													96	325					0	0	0.323286	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325428	150325428	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:150325428C>A	ENST00000328902.5	-	3	474	c.258G>T	c.(256-258)tgG>tgT	p.W86C	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	86							GTP binding	p.W86C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCCCAGCCCACTCTCGGC	0.582000													24	150					1.66031e-10	2.39757e-10	0.294199	1	0
ASAP2	8853	broad.mit.edu	37	2	9540191	9540191	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:9540191G>T	ENST00000281419.3	+	25	3064	c.2724G>T	c.(2722-2724)ccG>ccT	p.P908P	ASAP2_ENST00000315273.4_Silent_p.P863P|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	908	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.P908P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGCCAACCGAGAGGACCTG	0.517000													5	49					0.000602214	0.000663239	0.184627	1	0
OR2T12	127064	broad.mit.edu	37	1	248458341	248458341	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:248458341G>A	ENST00000317996.1	-	1	539	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P180P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			GCACCAACACGGGGGCCTCGC	0.562000													15	63					0	0	0.160694	0	0
SLIT2	9353	broad.mit.edu	37	4	20597397	20597397	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:20597397A>C	ENST00000504154.1	+	31	3512	c.3260A>C	c.(3259-3261)aAc>aCc	p.N1087T	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079T|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100T|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1087	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.N1087T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGTGTAAAAACGGAGCCCAC	0.468000													11	110					0	0	0.080935	0	0
PTPRD	5789	broad.mit.edu	37	9	8449818	8449818	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr9:8449818A>T	ENST00000381196.4	-	31	4438	c.3895T>A	c.(3895-3897)Tct>Act	p.S1299T	PTPRD_ENST00000486161.1_Missense_Mutation_p.S892T|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1277T|PTPRD_ENST00000537002.1_Missense_Mutation_p.S889T|PTPRD_ENST00000397606.3_Missense_Mutation_p.S878T|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1299T|PTPRD_ENST00000397611.3_Missense_Mutation_p.S889T|PTPRD_ENST00000355233.5_Missense_Mutation_p.S893T|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1299T|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1286T|PTPRD_ENST00000397617.3_Missense_Mutation_p.S878T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1299					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1299T(2)|p.S770T(1)|p.S893T(1)		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)		CTTTTTCTAGAGTCGGACTCT	0.423000										TSP Lung(15;0.13)			22	145					0	0	0.234183	0	0
PJA2	9867	broad.mit.edu	37	5	108717348	108717348	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:108717348T>C	ENST00000361189.2	-	3	327	c.88A>G	c.(88-90)Aca>Gca	p.T30A	PJA2_ENST00000361557.3_Missense_Mutation_p.T30A|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	30					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	p.T30A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCTGTAATTGTCTGATACCCT	0.418000													10	81					0	0	0.080935	0	0
HEATR5B	54497	broad.mit.edu	37	2	37227729	37227729	+	Splice_Site	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:37227729C>A	ENST00000233099.5	-	33	5640	c.5545_splice	c.e33+1	p.E1849_splice	HEATR5B_ENST00000354531.2_Splice_Site_p.E1760_splice	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1849							binding	p.E1849*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATAGGTTACCTGGTTGAGAA	0.388000													6	73					0.00116845	0.00127663	0.217242	1	0
LAMP5	24141	broad.mit.edu	37	20	9496758	9496758	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:9496758C>A	ENST00000246070.2	+	3	841	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	117						integral to membrane		p.L117I(1)									CGCATATGCACTCAAAATGCT	0.617000													10	14					4.3838e-07	5.6227e-07	0.105934	1	0
COL21A1	81578	broad.mit.edu	37	6	55932126	55932126	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:55932126C>A	ENST00000244728.5	-	23	2491	c.2094G>T	c.(2092-2094)ggG>ggT	p.G698G	COL21A1_ENST00000370808.2_Silent_p.G98G|COL21A1_ENST00000535941.1_Silent_p.G698G|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Silent_p.G695G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	698	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G698G(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCCTTTGTCCCCCTACAAAA	0.313000													6	40					0.0293803	0.0301843	0.248553	1	0
LGALS9	3965	broad.mit.edu	37	17	25974363	25974363	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:25974363G>T	ENST00000395473.2	+	10	2294	c.826G>T	c.(826-828)Gct>Tct	p.A276S	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.A232S|LGALS9_ENST00000302228.5_Missense_Mutation_p.A244S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	276	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.A276S(1)		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)		TGATGAGAATGCTGTGGTCCG	0.572000													7	53					0.000157383	0.000177594	0.278610	1	0
SUPT5H	6829	broad.mit.edu	37	19	39959770	39959770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:39959770C>T	ENST00000599117.1	+	16	1562	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q395*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q399*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q399*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q395*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	399	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.Q399*(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTTGAGGACCAGCCAGAGGG	0.577000													13	49					0	0	0.105934	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656339	28656339	+	Silent	SNP	G	G	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:28656339G>A	ENST00000328886.4	-	3	363	c.291C>T	c.(289-291)aaC>aaT	p.N97N	TMIGD1_ENST00000538566.2_Silent_p.N97N	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	97	Ig-like C2-type 1.					integral to membrane		p.N97N(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AGCTGATTCCGTTGTCATTTT	0.488000													12	76					0	0	0.093190	0	0
DOCK11	139818	broad.mit.edu	37	X	117758564	117758564	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chrX:117758564A>G	ENST00000276204.6	+	32	3608	c.3534A>G	c.(3532-3534)atA>atG	p.I1178M	DOCK11_ENST00000276202.7_Missense_Mutation_p.I1178M			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1178					blood coagulation	cytosol	GTP binding	p.I1178M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGAAAATATACAGCGATTAG	0.338000													83	186					0	0	0.323286	0	0
PEG3	5178	broad.mit.edu	37	19	57327625	57327625	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:57327625T>C	ENST00000326441.9	-	10	2548	c.2185A>G	c.(2185-2187)Act>Gct	p.T729A	PEG3_ENST00000593695.1_Missense_Mutation_p.T603A|PEG3_ENST00000598410.1_Missense_Mutation_p.T605A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T729A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	729					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T729A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGATTCAGTGAATGGCCCA	0.423000													44	85					0	0	0.290176	0	0
RIN3	79890	broad.mit.edu	37	14	93118691	93118691	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:93118691G>T	ENST00000216487.7	+	6	1456	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	433	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.G433C(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACGGAGCAAGGCCAGGACAC	0.657000													7	33					0.000157383	0.000177594	0.278610	1	0
GRM1	2911	broad.mit.edu	37	6	146480615	146480615	+	Silent	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr6:146480615C>A	ENST00000392299.2	+	3	1302	c.832C>A	c.(832-834)Cga>Aga	p.R278R	GRM1_ENST00000492807.2_Silent_p.R278R|GRM1_ENST00000282753.1_Silent_p.R278R|GRM1_ENST00000355289.4_Silent_p.R278R|GRM1_ENST00000507907.1_Silent_p.R278R|GRM1_ENST00000361719.2_Silent_p.R278R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	278					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R278R(2)		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)	GCGCAAACTCCGAGAGAGGCT	0.587000													7	44					8.12818e-05	9.299e-05	0.248553	1	0
DLST	1743	broad.mit.edu	37	14	75360125	75360125	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr14:75360125C>T	ENST00000334220.4	+	9	731	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	DLST_ENST00000334212.6_Missense_Mutation_p.R138W|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	224					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	p.R224W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTCAGAACATCGGGTAAGCCT	0.517000													7	44					0	0	0.278610	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256413	140256413	+	Silent	SNP	G	G	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:140256413G>T	ENST00000398631.2	+	1	1356	c.1356G>T	c.(1354-1356)gcG>gcT	p.A452A	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.A452A(1)		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)			ACGACAATGCGCCTGCGTTCG	0.662000													14	68					3.27435e-08	4.33432e-08	0.119110	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551451	1551451	+	Splice_Site	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr20:1551451C>A	ENST00000381605.4	-	4	1148	c.1084_splice	c.e4+1	p.E362_splice	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	362					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.E362*(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTAACCGCACCATGGGTGATA	0.413000													38	104					2.35958e-20	3.83665e-20	0.279185	1	0
MYO3A	53904	broad.mit.edu	37	10	26462618	26462618	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:26462618A>T	ENST00000265944.5	+	30	3591	c.3425A>T	c.(3424-3426)gAa>gTa	p.E1142V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1142					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1142V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAAGCAGAAAATGCAATC	0.328000													4	38					0	0	0.150653	0	0
TSKS	60385	broad.mit.edu	37	19	50245161	50245161	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr19:50245161C>A	ENST00000246801.3	-	9	1560	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	TSKS_ENST00000358830.3_Missense_Mutation_p.R293M	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	493							protein binding	p.R493M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTTGTGTAGCCTCTGACAGCT	0.582000													8	78					2.74318e-10	3.90667e-10	0.058154	1	0
PKLR	5313	broad.mit.edu	37	1	155261655	155261655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr1:155261655delG	ENST00000392414.3	-	10	1530	c.1417delC	c.(1417-1419)gcfs	p.R473fs	PKLR_ENST00000342741.4_Frame_Shift_Del_p.R504fs	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	504					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.R504S(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)	TGGACCTGGCGGGCAGCCTGG	0.602													18	92	---	---	---	---					
GALNT14	79623	broad.mit.edu	37	2	31178519	31178519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr2:31178519delC	ENST00000349752.5	-	6	1258	c.619delG	c.(619-621)acfs	p.D207fs	GALNT14_ENST00000420311.2_Frame_Shift_Del_p.D172fs|GALNT14_ENST00000406653.1_Frame_Shift_Del_p.D187fs|GALNT14_ENST00000356174.3_Frame_Shift_Del_p.D174fs|GALNT14_ENST00000324589.5_Frame_Shift_Del_p.D212fs|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	207	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGAGCCAGTCCCTGTTCACC	0.632													18	43	---	---	---	---					
ARHGEF38	54848	broad.mit.edu	37	4	106534548	106534549	+	Frame_Shift_Ins	INS	-	-	TATC			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr4:106534548_106534549insTATC	ENST00000420470.2	+	3	536_537	c.392_393insTATC	c.(391-393)actfs	p.T131fs	ARHGEF38_ENST00000265154.2_Frame_Shift_Ins_p.T131fs	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	131	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						CAGACTGATAGGCTGGATGTGG	0.441													15	219	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													7	498	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121651908	121651909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr7:121651908_121651909insT	ENST00000393386.2	+	12	3219_3220	c.2808_2809insT	c.(2806-2811)tcaacafs	p.T937fs	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	937					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						ATGAGGGCTCCCAACACATCTT	0.455													22	106	---	---	---	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)acfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													8	204	---	---	---	---					
RP11-478B9.1	0	broad.mit.edu	37	12	45457374	45457375	+	RNA	INS	-	-	T			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr12:45457374_45457375insT	ENST00000548424.1	+	0	448																											TCCCTGTGACAGGGAACTAGAT	0.465													7	51	---	---	---	---					
MKRN3	7681	broad.mit.edu	37	15	23811300	23811300	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr15:23811300delG	ENST00000314520.3	+	1	847	c.371delG	c.(370-372)cgfs	p.R124fs	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	124						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTTTCTGGTCGGAAGATGGCC	0.602													11	65	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562721	29562721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:29562721delG	ENST00000358273.4	+	28	4184	c.3801delG	c.(3799-3801)ttfs	p.L1267fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L1267fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1267	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)	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)		AAGTAGAATTGGCAGACTCCA	0.413			"""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)			88	321	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29679430	29679430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-6593-01A-11D-1753-08	TCGA-50-6593-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10e03053-f6e3-42b7-8638-ce58c6e7dfaa	acd8a6fc-5145-499f-9d88-9bd6082a0d9b	g.chr17:29679430delT	ENST00000358273.4	+	51	7996	c.7613delT	c.(7612-7614)ctfs	p.L2538fs	NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Frame_Shift_Del_p.L2517fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.L331fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2538					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.?(3)	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)		AAGAAGTTGCTTGGTTAGTTT	0.368			"""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)			10	26	---	---	---	---