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
EFEMP2	30008	broad.mit.edu	37	11	65637376	65637376	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:65637376G>A	ENST00000307998.6	-	7	909	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R227C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	227	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.R227C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGGCAGCGACACAGGAAG	0.607000													17	97					0	0	0.004990	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943926	109943926	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:109943926G>A	ENST00000218054.4	-	7	758	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	CHRDL1_ENST00000444321.2_Missense_Mutation_p.H188Y|CHRDL1_ENST00000434224.1_Missense_Mutation_p.H109Y|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H189Y|CHRDL1_ENST00000372045.1_Missense_Mutation_p.H182Y|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H188Y|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H109Y	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	182					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.H188Y(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCATCAGAATGTTCCCATGAC	0.408000													10	99					0	0	0.008291	0	0
MMP13	4322	broad.mit.edu	37	11	102824901	102824901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:102824901C>T	ENST00000260302.3	-	4	649	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MMP13_ENST00000340273.4_Nonsense_Mutation_p.W207*	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	207					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.W207*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AACTACTTGTCCAGGTTTCAT	0.388000													10	39					0	0	0.008291	0	0
BMP8A	353500	broad.mit.edu	37	1	39991331	39991331	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:39991331T>C	ENST00000331593.5	+	7	1416	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	357					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	p.M357T(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCACCTGATGAAGCCAAAC	0.637000													10	39					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13737491	13737491	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:13737491C>A	ENST00000265104.4	-	66	11429	c.11325G>T	c.(11323-11325)ctG>ctT	p.L3775L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3775	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3775L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTTCTACCAGGGACCCCT	0.433000									Kartagener syndrome				46	241					1.47857e-17	2.69429e-17	0.003610	1	0
HAPLN1	1404	broad.mit.edu	37	5	82940367	82940367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:82940367G>T	ENST00000274341.4	-	4	1440	c.590C>A	c.(589-591)gCc>gAc	p.A197D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	197	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A197D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCCCGCCAGGCGTCGTACAG	0.612000													6	50					2.17888e-05	3.04764e-05	0.006214	1	0
COL7A1	1294	broad.mit.edu	37	3	48620085	48620085	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:48620085C>A	ENST00000328333.8	-	44	4627	c.4518_splice	c.e44-1	p.G1507_splice	COL7A1_ENST00000454817.1_Splice_Site_p.G1507_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1507	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1507V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTGGCAGCCCCTGGAGGAG	0.637000													7	31					0.00198382	0.00254177	0.001984	1	0
LIPI	149998	broad.mit.edu	37	21	15561477	15561477	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:15561477C>G	ENST00000344577.2	-	2	398	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	LIPI_ENST00000536861.1_Missense_Mutation_p.E104Q	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.E125Q(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATATCTTCTTCATTCAGC	0.393000													10	62					0	0	0.006214	0	0
MUC3A	4584	broad.mit.edu	37	7	100549604	100549604	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:100549604A>C	ENST00000379458.4	+	2	185	c.185A>C	c.(184-186)cAg>cCg	p.62_62insP	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.Q62P(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGTGTCCCCCAGCTCGCCTCT	0.567000													19	118					0	0	0.008871	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020672	33020672	+	RNA	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:33020672G>A	ENST00000565407.2	+	0	80				RP11-19N8.2_ENST00000567619.1_RNA														p.G27E(1)									GTGGAGTCTGGGGGAGGCTTG	0.567000													27	109					0	0	0.005524	0	0
ALAS2	212	broad.mit.edu	37	X	55052311	55052311	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:55052311C>A	ENST00000330807.5	-	2	260	c.123G>T	c.(121-123)ctG>ctT	p.L41L	ALAS2_ENST00000335854.4_Silent_p.L41L|ALAS2_ENST00000396198.3_Silent_p.L65L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	41					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L65L(1)|p.L41L(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGGGTAGCCAGGATGGGAC	0.542000													12	86					7.93312e-07	1.17475e-06	0.002450	1	0
ZNF528	84436	broad.mit.edu	37	19	52918883	52918883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:52918883C>T	ENST00000360465.3	+	7	1204	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q260*(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTCACAACATCAAAGAATTCA	0.388000													8	99					0	0	0.003080	0	0
DMXL2	23312	broad.mit.edu	37	15	51743895	51743895	+	Splice_Site	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:51743895C>G	ENST00000251076.5	-	41	8918		c.e41-1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAACATTTCTTTTAAAGAA	0.318000													10	38					0	0	0.002450	0	0
CIZ1	25792	broad.mit.edu	37	9	130941408	130941408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:130941408G>A	ENST00000538431.1	-	8	1325	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q259*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q336*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q331*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.Q360*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	360	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.Q360*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ggctgcacctgcttctgttgc	0.602000													12	34					0	0	0.001368	0	0
SHCBP1	79801	broad.mit.edu	37	16	46615701	46615701	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:46615701C>A	ENST00000303383.3	-	13	2225	c.1959G>T	c.(1957-1959)ggG>ggT	p.G653G		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	653								p.G653G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCCCCACAATCCCAACAAACA	0.428000													18	101					1.9806e-07	3.06432e-07	0.002299	1	0
MAP3K9	4293	broad.mit.edu	37	14	71197272	71197272	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:71197272G>C	ENST00000554752.2	-	12	3139	c.3140C>G	c.(3139-3141)cCt>cGt	p.P1047R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.P1061R|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P1024R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P775R|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P780R			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1047					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.P1061R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGAAGTCCAGGCCGCTCCTC	0.662000													5	52					0	0	0.000602	0	0
ALG10	84920	broad.mit.edu	37	12	34175705	34175705	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:34175705G>T	ENST00000266483.2	+	1	490	c.171_splice	c.e1+1	p.Q57_splice	ALG10_ENST00000538927.1_Splice_Site_p.Q57_splice|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	57					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.Q57H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCTTTCCCAGGTGGGGTCCC	0.642000													29	118					1.2476e-16	2.22398e-16	0.006320	1	0
CXorf22	170063	broad.mit.edu	37	X	35969251	35969251	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:35969251G>T	ENST00000297866.5	+	5	726	c.660G>T	c.(658-660)gtG>gtT	p.V220V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	220								p.V220V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTGTAGAGTGATTTTGCAAG	0.333000													9	58					0.000442599	0.000583022	0.006214	1	0
CNGA2	1260	broad.mit.edu	37	X	150911089	150911089	+	Silent	SNP	G	G	T	rs146197221	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:150911089G>T	ENST00000329903.4	+	5	597	c.564G>T	c.(562-564)gcG>gcT	p.A188A		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	188					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.A188A(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCTACATTGCGGACCTCTTCA	0.532000													7	163					2.0095e-06	2.91644e-06	0.001984	1	0
PAK3	5063	broad.mit.edu	37	X	110459767	110459767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:110459767C>A	ENST00000519681.1	+	18	2031	c.1589C>A	c.(1588-1590)tCt>tAt	p.S530Y	PAK3_ENST00000518291.1_Missense_Mutation_p.S545Y|PAK3_ENST00000262836.4_Missense_Mutation_p.S524Y|PAK3_ENST00000417227.1_Missense_Mutation_p.S530Y|PAK3_ENST00000446737.1_Missense_Mutation_p.S509Y|PAK3_ENST00000425146.1_Missense_Mutation_p.S509Y|PAK3_ENST00000372007.4_Missense_Mutation_p.S509Y|PAK3_ENST00000372010.1_Missense_Mutation_p.S524Y|PAK3_ENST00000360648.4_Missense_Mutation_p.S545Y			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	524	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.S545Y(1)|p.S509Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCGAGGATCTGCCAAGGAG	0.433000										TSP Lung(19;0.15)			13	118					3.27435e-08	5.15102e-08	0.002450	1	0
NEK8	284086	broad.mit.edu	37	17	27061971	27061971	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:27061971C>T	ENST00000268766.6	+	3	469	c.435C>T	c.(433-435)atC>atT	p.I145I	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	145	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.I145I(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TCGTCAAGATCGGTGATTTCG	0.562000													29	107					0	0	0.001786	0	0
C6orf10	10665	broad.mit.edu	37	6	32261493	32261493	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:32261493C>T	ENST00000375015.4	-	26	1154	c.954G>A	c.(952-954)caG>caA	p.Q318Q	C6orf10_ENST00000533191.1_Silent_p.Q317Q|C6orf10_ENST00000442822.2_Silent_p.Q310Q|C6orf10_ENST00000447241.2_Silent_p.Q319Q|C6orf10_ENST00000375007.4_Silent_p.Q317Q|C6orf10_ENST00000527965.1_Silent_p.Q303Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	319						integral to membrane		p.G320R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTTGGGCTCCCTGTCCTTGTG	0.443000													38	200					0	0	0.004289	0	0
SRPK1	6732	broad.mit.edu	37	6	35837307	35837307	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:35837307A>C	ENST00000373825.2	-	11	1648	c.1363T>G	c.(1363-1365)Tgt>Ggt	p.C455G	SRPK1_ENST00000423325.2_Missense_Mutation_p.C439G|SRPK1_ENST00000373822.1_Missense_Mutation_p.C348G			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	455	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.C455G(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCATCTTCACAGGGTATCTCT	0.463000													14	149					0	0	0.002450	0	0
AEBP1	165	broad.mit.edu	37	7	44149642	44149642	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:44149642C>A	ENST00000223357.3	+	10	1484	c.1179C>A	c.(1177-1179)caC>caA	p.H393Q	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	393	F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H393Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGTCACACCGTATTGAGG	0.627000													8	33					3.07112e-06	4.40843e-06	0.000978	1	0
GPN2	54707	broad.mit.edu	37	1	27215499	27215499	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:27215499G>A	ENST00000374135.4	-	2	729	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	177							GTP binding	p.L177F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ATCTTGGAAAGGAGGTTGATG	0.532000													15	270					0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123234842	123234842	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:123234842G>T	ENST00000264501.4	+	60	10685	c.10312_splice	c.e60+1	p.E3438_splice	KIAA1109_ENST00000455637.1_Splice_Site_p.E3438_splice|KIAA1109_ENST00000388738.3_Splice_Site_p.E3438_splice			Q2LD37	K1109_HUMAN	KIAA1109	3438					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.E3438*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCAGCAGCTGGTAGGTTCAC	0.353000													13	75					7.93312e-07	1.17475e-06	0.002450	1	0
RP2	6102	broad.mit.edu	37	X	46712938	46712938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:46712938G>T	ENST00000218340.3	+	2	291	c.130G>T	c.(130-132)Gga>Tga	p.G44*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	44	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.G44*(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CATGTTCAGTGGACTGAAGGA	0.388000													7	95					8.12818e-05	0.000109714	0.001984	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004779	55004779	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:55004779A>T	ENST00000216420.7	+	6	810		c.e6-1		CGRRF1_ENST00000557512.1_Splice_Site	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1						cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.?(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TTTGATTTTCAGCAACTTTTC	0.308000													3	25					0	0	0.004672	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	14					0.004672	0.00589391	0.004672	1	0
ZNF831	128611	broad.mit.edu	37	20	57769634	57769634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:57769634G>T	ENST00000371030.2	+	1	3560	c.3560G>T	c.(3559-3561)tGc>tTc	p.C1187F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1187						intracellular	nucleic acid binding|zinc ion binding	p.C1187F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGTGGTGTTGCCTGAGCCGC	0.642000													21	20					3.8784e-16	6.85777e-16	0.001882	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141262908	141262908	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:141262908C>A	ENST00000389328.4	-	16	2707	c.2693G>T	c.(2692-2694)tGc>tTc	p.C898F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.C791F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.C800F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	800					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.C898F(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTCTCCTGGCAGGAGAAATC	0.498000													27	46					1.75199e-13	3.02448e-13	0.007291	1	0
TUB	7275	broad.mit.edu	37	11	8060490	8060490	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:8060490G>A	ENST00000305253.4	+	1	311	c.70G>A	c.(70-72)Gga>Aga	p.G24R	TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.G24R(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TTTGTTCCCAGGAGGCACTCC	0.552000													13	97					0	0	0.001855	0	0
OR10A6	390093	broad.mit.edu	37	11	7949730	7949730	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:7949730T>C	ENST00000309838.2	-	1	479	c.480A>G	c.(478-480)acA>acG	p.T160T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T160T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACCCATGATGTTTGAACAG	0.348000													6	50					0	0	0.001984	0	0
SMARCC1	6599	broad.mit.edu	37	3	47752263	47752263	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:47752263G>A	ENST00000254480.5	-	9	947	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	276					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.F276F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCATTCATTGAAAATATCAG	0.338000													5	67					0	0	0.000602	0	0
PPRC1	23082	broad.mit.edu	37	10	103898672	103898672	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:103898672G>A	ENST00000278070.2	+	4	565	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	PPRC1_ENST00000413464.2_Missense_Mutation_p.E176K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACCCCCAGAACGTGACCT	0.542000													7	59					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126242685	126242685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:126242685G>T	ENST00000394329.3	+	1	5132	c.5119G>T	c.(5119-5121)Gtg>Ttg	p.V1707L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1707	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1707L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTTTACCTGGTGGATGTTTA	0.398000													6	79					0.00116845	0.00152083	0.001168	1	0
PIWIL2	55124	broad.mit.edu	37	8	22161574	22161574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:22161574G>A	ENST00000356766.6	+	11	1370	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E408K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E408K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	408	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.E408K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTCCAGGATGAGTGTACTAA	0.378000													6	69					0	0	0.001984	0	0
POF1B	79983	broad.mit.edu	37	X	84559397	84559397	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:84559397C>A	ENST00000262753.4	-	14	1663	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	POF1B_ENST00000373145.3_Silent_p.L506L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	506							actin binding	p.L506L(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCAAGCTTGTCAGTTCATGAA	0.378000													16	47					0.00316338	0.00402166	0.003163	1	0
SEZ6L	23544	broad.mit.edu	37	22	26690269	26690269	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr22:26690269G>A	ENST00000529632.2	+	3	1043	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	SEZ6L_ENST00000360929.3_Missense_Mutation_p.V283M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V283M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V283M|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V283M|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V56M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V56M	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	283	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.V283M(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						TCTCTGCAGTGTGAGCTTCTC	0.517000													24	128					0	0	0.005443	0	0
EHMT2	10919	broad.mit.edu	37	6	31857313	31857313	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:31857313C>G	ENST00000395728.3	-	7	1101	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	EHMT2_ENST00000375528.4_Missense_Mutation_p.E368Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.E311Q|EHMT2_ENST00000375537.4_Missense_Mutation_p.E311Q|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.E311Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						tcttcctcttcttcttcttcc	0.493000													3	71					0	0	0.004672	0	0
ALK	238	broad.mit.edu	37	2	29551314	29551314	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:29551314C>A	ENST00000389048.3	-	6	2222	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	439	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S439I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTGAAGGAGCTCTGCAGGGC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	61					1.06961e-07	1.65879e-07	0.003080	1	0
ITGA4	3676	broad.mit.edu	37	2	182339792	182339792	+	Splice_Site	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:182339792T>A	ENST00000397033.2	+	3	855	c.426_splice	c.e3+1	p.V142_splice	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Splice_Site_p.V142_splice	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	142					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.V142E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGATCCATCGTGGTAGGTATT	0.448000													5	34					0	0	0.000602	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618236	156618236	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:156618236A>G	ENST00000296518.7	+	3	426	c.217A>G	c.(217-219)Act>Gct	p.T73A	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T73A|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T73A			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	73					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.T73A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTATCTTCACACTTTGGCAGA	0.398000													8	98					0	0	0.004482	0	0
KIAA1549	57670	broad.mit.edu	37	7	138556069	138556069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:138556069G>C	ENST00000440172.1	-	13	4433	c.4385C>G	c.(4384-4386)tCa>tGa	p.S1462*	KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S1462*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S1412*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1462						integral to membrane		p.S1462*(1)|p.S1412*(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATGGAGGCTGATGAGTGCTG	0.562000			O	BRAF	pilocytic astrocytoma								7	73					0	0	0.001984	0	0
DPEP1	1800	broad.mit.edu	37	16	89704574	89704574	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:89704574T>G	ENST00000393092.3	+	11	1471	c.1180T>G	c.(1180-1182)Tgg>Ggg	p.W394G	DPEP1_ENST00000261615.4_Missense_Mutation_p.W394G|DPEP1_ENST00000421184.1_Missense_Mutation_p.W394G	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	394					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.W394G(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCATCGCCACTGGGGGCTCCT	0.662000													6	33					0	0	0.001984	0	0
WDR90	197335	broad.mit.edu	37	16	706348	706348	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:706348C>T	ENST00000549091.1	+	18	2105	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L	WDR90_ENST00000293879.4_Silent_p.L671L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	671								p.L671L(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGATGGCCTCCGTGTGCTGT	0.706000													3	10					0	0	0.004672	0	0
KANSL1	284058	broad.mit.edu	37	17	44249069	44249069	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:44249069T>A	ENST00000262419.6	-	2	911	c.441A>T	c.(439-441)acA>acT	p.T147T	KANSL1_ENST00000575318.1_Silent_p.T147T|KANSL1_ENST00000574590.1_Silent_p.T147T|KANSL1_ENST00000572904.1_Silent_p.T147T|KANSL1_ENST00000432791.1_Silent_p.T147T|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	147						MLL1 complex	protein binding	p.T147T(1)									GTGGCAGAGCTGTCTGACCAC	0.438000													49	476					0	0	0.003610	0	0
TENC1	23371	broad.mit.edu	37	12	53442938	53442938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:53442938G>C	ENST00000314276.3	+	1	206	c.11G>C	c.(10-12)gGt>gCt	p.G4A	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546793.1_RNA	NM_015319.2	NP_056134.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	0					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.G4A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGGATGGGGGTGGAGTATGT	0.627000													9	66					0	0	0.001368	0	0
KMT2C	58508	broad.mit.edu	37	7	151876995	151876995	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:151876995C>T	ENST00000355193.2	-	37	7584	c.7366G>A	c.(7366-7368)Gct>Act	p.A2456T	KMT2C_ENST00000262189.6_Missense_Mutation_p.A2456T					lysine (K)-specific methyltransferase 2C									p.A2456T(2)									GGGAAAACAGCATATCTAGGT	0.488000													16	104					0	0	0.004007	0	0
ATP1A3	478	broad.mit.edu	37	19	42492226	42492226	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42492226C>T	ENST00000545399.1	-	4	411	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Silent_p.P84P|ATP1A3_ENST00000602133.1_Silent_p.P43P|ATP1A3_ENST00000302102.5_Silent_p.P73P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	73					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.P73P(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGTGGTAGGCGGTGGCGTGA	0.622000													10	86					0	0	0.006214	0	0
FAM133A	286499	broad.mit.edu	37	X	92965126	92965126	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:92965126G>A	ENST00000538690.1	+	5	1269	c.708G>A	c.(706-708)aaG>aaA	p.K236K	FAM133A_ENST00000332647.4_Silent_p.K236K|FAM133A_ENST00000322139.4_Silent_p.K236K|FAM133A_ENST00000355813.5_Silent_p.K236K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	236	Lys-rich.							p.K236K(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						atagtaagaagaagaaaaaga	0.363000													4	32					0	0	0.000248	0	0
LINC00471	151477	broad.mit.edu	37	2	232373893	232373893	+	RNA	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:232373893C>G	ENST00000313064.2	-	0	525					NR_024079.1													p.R66S(1)									ACTCACTGTTCCTGTCTTCAT	0.502000													17	275					0	0	0.004990	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382556	41382556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:41382556C>A	ENST00000377801.3	-	2	258	c.184G>T	c.(184-186)Gtc>Ttc	p.V62F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V62F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	62	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.V62F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACAGAGACAAAATTCTGG	0.448000													30	192					5.45727e-16	9.62357e-16	0.008361	1	0
OTOGL	283310	broad.mit.edu	37	12	80750640	80750640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:80750640C>A	ENST00000458043.2	+	48	5944	c.5938C>A	c.(5938-5940)Caa>Aaa	p.Q1980K	OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1968K|OTOGL_ENST00000546620.1_5'UTR	NM_173591.3	NP_775862.3			otogelin-like									p.Q1980K(1)|p.Q345K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGAGAAGATCAATTCATGAT	0.343000													8	60					0.000274275	0.00036422	0.004482	1	0
CDH9	1007	broad.mit.edu	37	5	26988490	26988490	+	Splice_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26988490C>T	ENST00000231021.4	-	2	124		c.e2-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTTTTTCCTAAAGAGTAA	0.313000													13	48					0	0	0.001368	0	0
TPM3	7170	broad.mit.edu	37	1	154141852	154141852	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:154141852G>C	ENST00000328159.4	-	8	671	c.672C>G	c.(670-672)ctC>ctG	p.L224L	TPM3_ENST00000323144.7_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000368530.2_Silent_p.L261L|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000469717.1_Intron			P06753	TPM3_HUMAN	tropomyosin 3	260					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	p.L261L(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTGGGCATAGAGCTCATCTG	0.493000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								3	51					0	0	0.000248	0	0
DOCK2	1794	broad.mit.edu	37	5	169423144	169423144	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:169423144A>G	ENST00000256935.8	+	30	3128	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L508L|DOCK2_ENST00000540750.1_Silent_p.L77L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1016	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.L1016L(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)			AGAAGTTCCTAGAACACACGA	0.498000													3	76					0	0	0.004672	0	0
CKAP5	9793	broad.mit.edu	37	11	46786761	46786761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:46786761C>G	ENST00000529230.1	-	28	3503	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H	CKAP5_ENST00000354558.3_Missense_Mutation_p.D1153H|CKAP5_ENST00000415402.1_Missense_Mutation_p.D1153H|CKAP5_ENST00000312055.5_Missense_Mutation_p.D1153H			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1153					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.D1153H(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGTCTTCATCCTCCTTTAAG	0.398000													6	146					0	0	0.001984	0	0
MAML1	9794	broad.mit.edu	37	5	179192504	179192504	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:179192504G>T	ENST00000292599.3	+	2	756	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	165					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.D202Y(1)|p.D165Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTCAGTCTGACAAGCCTTC	0.597000													12	58					3.07112e-06	4.40843e-06	0.000978	1	0
TCL6	27004	broad.mit.edu	37	14	96134559	96134559	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:96134559G>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CTCGGACGAAGTGTTTCCAGA	0.488000			T	TRA@	T-ALL								14	113					1.05317e-09	1.71861e-09	0.002450	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857858	9857858	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:9857858G>A	ENST00000396573.2	-	14	3852	c.3543C>T	c.(3541-3543)aaC>aaT	p.N1181N	GRIN2A_ENST00000330684.3_Silent_p.N1181N|GRIN2A_ENST00000404927.2_Silent_p.N1181N|GRIN2A_ENST00000396575.2_Silent_p.N1181N|GRIN2A_ENST00000535259.1_Silent_p.N1024N|GRIN2A_ENST00000562109.1_Silent_p.N1181N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1181					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.N1181N(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TATACTGGTCGTTGTTGGAAA	0.552000													19	351					0	0	0.001523	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339545	13339545	+	RNA	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:13339545C>G	ENST00000602906.1	+	0	896																				kidney(3)|lung(1)	4						ATACAGAAGTCCATCTATTAC	0.478000													10	35					0	0	0.006214	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48718899	48718899	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:48718899C>T	ENST00000294129.2	-	5	1032	c.913G>A	c.(913-915)Gag>Aag	p.E305K	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.E298K|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E305K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	305					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	p.E305K(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCCGCCTCAGCTGCTGCC	0.602000													8	52					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582513	136582513	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:136582513T>A	ENST00000531224.1	-	12	2899	c.2647A>T	c.(2647-2649)Agc>Tgc	p.S883C	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S832C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S881C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S710C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S832C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S834C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S101C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	883					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S883C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAGGACTGCTACCTGATTTT	0.433000													37	348					0	0	0.005524	0	0
METTL21A	151194	broad.mit.edu	37	2	208489097	208489097	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:208489097C>T	ENST00000411432.1	-	2	219	c.3G>A	c.(1-3)atG>atA	p.M1I	METTL21A_ENST00000432416.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000448823.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000458426.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000406927.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000426075.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000448007.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000425132.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000272839.3_Start_Codon_SNP_p.M1I|METTL21A_ENST00000442521.1_Start_Codon_SNP_p.M1I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	1						integral to membrane	methyltransferase activity	p.M1I(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCACGAGGGCCATTCCGCCTG	0.522000													7	61					0	0	0.004482	0	0
OR2G6	391211	broad.mit.edu	37	1	248685555	248685555	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248685555G>T	ENST00000343414.4	+	1	640	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGTGGCCAGTGTAGTCTTT	0.473000													35	86					1.99505e-19	3.68663e-19	0.002445	1	0
ASXL3	80816	broad.mit.edu	37	18	31322919	31322919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:31322919G>T	ENST00000269197.5	+	12	3107	c.3107G>T	c.(3106-3108)cGa>cTa	p.R1036L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R743L(1)|p.R1036L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGAGTCTCGAGCATCCACT	0.507000													8	17					1.12685e-05	1.58971e-05	0.004482	1	0
MIOS	54468	broad.mit.edu	37	7	7636007	7636007	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:7636007C>T	ENST00000340080.4	+	11	2737	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	MIOS_ENST00000405785.1_Silent_p.V772V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	772								p.V772V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATCTAAAGTCACAAGTTGTC	0.458000													15	133					0	0	0.004990	0	0
SDSL	113675	broad.mit.edu	37	12	113873251	113873251	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:113873251G>C	ENST00000403593.4	+	6	823	c.561G>C	c.(559-561)ctG>ctC	p.L187L	SDSL_ENST00000345635.4_Silent_p.L187L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	187					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	p.L187L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CTGGCCTGCTGGAGGTGGGCT	0.647000													10	34					0	0	0.006214	0	0
ABCA8	10351	broad.mit.edu	37	17	66883272	66883272	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:66883272C>A	ENST00000269080.2	-	24	3333		c.e24-1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACATGGGATCTAAAATCAAC	0.353000													11	22					3.07112e-06	4.40843e-06	0.000978	1	0
F13B	2165	broad.mit.edu	37	1	197031046	197031046	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:197031046A>G	ENST00000367412.1	-	3	362	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	107	Sushi 2.				blood coagulation	extracellular region		p.L107L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTTTATACAATAACTTTACA	0.368000													10	62					0	0	0.008291	0	0
IL21R	50615	broad.mit.edu	37	16	27441410	27441410	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:27441410C>A	ENST00000337929.3	+	2	491	c.18C>A	c.(16-18)gcC>gcA	p.A6A	IL21R_ENST00000564089.1_Silent_p.A6A|IL21R_ENST00000395755.1_Silent_p.A6A|IL21R_ENST00000395754.4_Silent_p.A6A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	6					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.A6A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GTGGCTGGGCCGCCCCCTTGC	0.721000			T	BCL6	NHL								5	29					3.59834e-05	4.94865e-05	0.001168	1	0
CDHR3	222256	broad.mit.edu	37	7	105662817	105662817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:105662817C>G	ENST00000542731.1	+	14	2107	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	CDHR3_ENST00000478080.1_Missense_Mutation_p.L579V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.L667V			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	667	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L667V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCGGAGGCTCTTGTTGAGAC	0.473000													14	180					0	0	0.002450	0	0
ITGA8	8516	broad.mit.edu	37	10	15646286	15646286	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:15646286C>A	ENST00000378076.3	-	20	2392	c.2039G>T	c.(2038-2040)gGg>gTg	p.G680V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	680					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G680V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCTCCTTCCCCTTCATTTCT	0.363000													14	67					1.5842e-08	2.52242e-08	0.001855	1	0
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:29365221C>G	ENST00000383555.2	+	1	806	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443000													33	181					0	0	0.003271	0	0
TMLHE	55217	broad.mit.edu	37	X	154736778	154736778	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154736778C>A	ENST00000334398.3	-	6	921	c.776G>T	c.(775-777)tGt>tTt	p.C259F	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.C259F	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	259					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.C259F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGTTTAAGACAATGAAACAC	0.358000													20	216					4.16121e-05	5.69886e-05	0.002780	1	0
OR4L1	122742	broad.mit.edu	37	14	20528948	20528948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:20528948C>G	ENST00000315683.1	+	1	745	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGGTCACTCTGTTCTTTGG	0.408000													24	114					0	0	0.002780	0	0
RBM6	10180	broad.mit.edu	37	3	50005024	50005024	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:50005024G>A	ENST00000266022.4	+	3	425	c.166G>A	c.(166-168)Gat>Aat	p.D56N	RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	56					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.D56N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCCCTTTGATTTCCAGGG	0.527000													13	133					0	0	0.001855	0	0
NOX1	27035	broad.mit.edu	37	X	100106267	100106267	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:100106267C>T	ENST00000372966.3	-	8	1057	c.852G>A	c.(850-852)agG>agA	p.R284R	NOX1_ENST00000217885.5_Silent_p.R284R|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.R247R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	284	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	p.R284R(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACCGGAGGATCCTTTCACAGA	0.423000													9	26					0	0	0.006214	0	0
EPHB6	2051	broad.mit.edu	37	7	142563293	142563293	+	Missense_Mutation	SNP	G	G	A	rs143088751		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:142563293G>A	ENST00000392957.2	+	8	1797	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R337H|EPHB6_ENST00000411471.2_Missense_Mutation_p.R60H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	337	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R322H(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCCCTGCCCGCAGTCACGCT	0.667000													10	35					0	0	0.000978	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216420	19216420	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19216420C>T	ENST00000318596.7	+	5	415	c.264C>T	c.(262-264)agC>agT	p.S88S	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	88					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S88S(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GATTTCTCAGCTTGTGGCGCG	0.622000													7	16					0	0	0.001984	0	0
UTS2B	257313	broad.mit.edu	37	3	190993124	190993124	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:190993124A>G	ENST00000340524.5	-	8	1037	c.251T>C	c.(250-252)cTa>cCa	p.L84P	UTS2B_ENST00000427544.2_Missense_Mutation_p.L84P	NM_198152.3	NP_937795.2			urotensin 2B									p.L84P(1)									CTGTTCTTTTAGCTTTTCCAG	0.418000													20	101					0	0	0.001523	0	0
CDH18	1016	broad.mit.edu	37	5	19747105	19747105	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:19747105G>T	ENST00000507958.1	-	6	1459	c.469C>A	c.(469-471)Cca>Aca	p.P157T	CDH18_ENST00000502796.1_Missense_Mutation_p.P157T|CDH18_ENST00000274170.4_Missense_Mutation_p.P157T|CDH18_ENST00000382275.1_Missense_Mutation_p.P157T|CDH18_ENST00000511273.1_Missense_Mutation_p.P157T|CDH18_ENST00000506372.1_Missense_Mutation_p.P157T			Q13634	CAD18_HUMAN	cadherin 18, type 2	157	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P157T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTGAATTTTGGAGCGTTGTCA	0.363000													93	121					6.78661e-64	1.29796e-63	0.003610	1	0
ANKS1B	56899	broad.mit.edu	37	12	100200327	100200327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:100200327C>T	ENST00000547776.2	-	4	523	c.524G>A	c.(523-525)aGa>aAa	p.R175K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R175K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	175						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R175K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTACCACTCTAAGCCGTCC	0.493000													8	58					0	0	0.003080	0	0
TAF3	83860	broad.mit.edu	37	10	8019213	8019213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:8019213G>T	ENST00000344293.5	+	4	2448	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	748					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.E748*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GATAAAAGTGGAACCAGTCGC	0.448000													13	54					1.36491e-13	2.36248e-13	0.001855	1	0
RBM19	9904	broad.mit.edu	37	12	114374889	114374889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:114374889C>A	ENST00000545145.2	-	16	2069	c.1991G>T	c.(1990-1992)aGc>aTc	p.S664I	RBM19_ENST00000392561.3_Missense_Mutation_p.S664I|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.S664I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	664					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.S664I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGGGCTGTGCTGGAGAAGAC	0.527000													11	104					2.27111e-07	3.45672e-07	0.001368	1	0
L3HYPDH	112849	broad.mit.edu	37	14	59942718	59942718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:59942718T>A	ENST00000247194.4	-	4	921	c.808A>T	c.(808-810)Aga>Tga	p.R270*	L3HYPDH_ENST00000487285.1_Nonsense_Mutation_p.R99*	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)									p.R270*(1)									GTGGGACTTCTGTCAACCTGT	0.428000													9	74					0	0	0.006214	0	0
LILRA2	11027	broad.mit.edu	37	19	55086935	55086935	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:55086935G>T	ENST00000251377.3	+	6	1001	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	LILRA2_ENST00000251376.3_Missense_Mutation_p.G290W|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290W|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278W|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657000													10	59					1.76689e-08	2.79972e-08	0.006214	1	0
IL3RA	3563	broad.mit.edu	37	X	1460679	1460679	+	Silent	SNP	G	G	T	rs138038721	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:1460679G>T	ENST00000331035.4	+	2	370	c.21G>T	c.(19-21)acG>acT	p.T7T	IL3RA_ENST00000381469.2_Silent_p.T7T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	7						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.T7T(1)		lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	TTTGGCTCACGCTGCTCCTGA	0.607000													14	145					2.62699e-14	4.58326e-14	0.003163	1	0
ACTL8	81569	broad.mit.edu	37	1	18152740	18152740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:18152740T>C	ENST00000375406.1	+	3	1043	c.827T>C	c.(826-828)aTt>aCt	p.I276T		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	276						cytoplasm|cytoskeleton		p.I276T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCACGGGCCATTGTGGAATCC	0.662000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	55					0	0	0.008291	0	0
ZNF511	118472	broad.mit.edu	37	10	135165834	135165834	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:135165834C>G	ENST00000368554.4	+	8	845	c.823C>G	c.(823-825)Ccg>Gcg	p.P275A	PRAP1_ENST00000423766.1_Missense_Mutation_p.P117A|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Missense_Mutation_p.P107A|PRAP1_ENST00000433452.2_Missense_Mutation_p.P116A			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P116A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTACCACCCTCCGCCTGAGGA	0.632000													8	86					0	0	0.006214	0	0
DPEP1	1800	broad.mit.edu	37	16	89704489	89704489	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:89704489G>A	ENST00000393092.3	+	11	1386	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	DPEP1_ENST00000261615.4_Silent_p.E365E|DPEP1_ENST00000421184.1_Silent_p.E365E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	365					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.E365E(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTCCCGAGGAGGAGCCCATCC	0.687000													3	14					0	0	0.004672	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464496	141464496	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:141464496C>G	ENST00000247879.2	+	1	600	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	180					sensory perception of taste		taste receptor activity	p.L180V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TGAGTATTATCTGATCCATGT	0.478000													17	53					0	0	0.006122	0	0
ZNF274	10782	broad.mit.edu	37	19	58723923	58723923	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:58723923G>A	ENST00000326804.4	+	9	1832	c.1373G>A	c.(1372-1374)aGt>aAt	p.S458N	ZNF274_ENST00000345813.3_Missense_Mutation_p.S426N|ZNF274_ENST00000424679.2_Missense_Mutation_p.S353N|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	459					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S426N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CAAGTTAAAAGTATGAAACAT	0.428000													11	135					0	0	0.008291	0	0
RAG1	5896	broad.mit.edu	37	11	36596398	36596398	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:36596398C>A	ENST00000299440.5	+	2	1656	c.1544C>A	c.(1543-1545)cCa>cAa	p.P515Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	515					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.P515Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTACTTCTGCCAGGCTACCAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis				15	104					2.48551e-13	4.25716e-13	0.004990	1	0
CSMD3	114788	broad.mit.edu	37	8	113299475	113299475	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:113299475C>A	ENST00000297405.5	-	58	9393	c.9148_splice	c.e58-1	p.G3050_splice	CSMD3_ENST00000343508.3_Splice_Site_p.G3010_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G2881_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G2980_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3050	Sushi 21.					integral to membrane|plasma membrane		p.G3010V(1)|p.G3050V(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						AGTAGCATCACCTGCAATGCA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	89					0.00198382	0.00254177	0.001984	1	0
KIFAP3	22920	broad.mit.edu	37	1	170015946	170015946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:170015946C>T	ENST00000367765.1	-	3	1607	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E32K|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E76K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	76					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.E76K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTACATTCTTCAACCACCTTC	0.373000													16	99					0	0	0.003163	0	0
RBP3	5949	broad.mit.edu	37	10	48389623	48389623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:48389623C>T	ENST00000224600.4	-	1	1368	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	419	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E419K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGATAGCCTCGTCCTCAGGC	0.637000													5	43					0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	30936456	30936456	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:30936456G>T	ENST00000355537.3	+	2	2134	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G663W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGGATGGGCTGCACGT	0.697000													7	51					0.00198382	0.00254177	0.001984	1	0
FCGR2B	2213	broad.mit.edu	37	1	161647156	161647156	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:161647156G>T	ENST00000367962.4	+	7	982		c.e7+1		FCGR2B_ENST00000367961.4_Splice_Site|FCGR2B_ENST00000358671.5_Splice_Site|FCGR2B_ENST00000403078.3_Splice_Site|FCGR2B_ENST00000367960.5_Splice_Site|FCGR2B_ENST00000236937.9_Splice_Site			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	p.?(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAAGTTGGGGTGAGTGATCC	0.537000			T	?	ALL								22	90					2.32416e-17	4.20013e-17	0.002299	1	0
CYP2B6	1555	broad.mit.edu	37	19	41515256	41515256	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:41515256G>A	ENST00000324071.4	+	5	785	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	260					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A260T(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGACCCCAGCGCCCCCAAGGA	0.557000													20	58					0	0	0.008871	0	0
MCM3	4172	broad.mit.edu	37	6	52149468	52149468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:52149468G>A	ENST00000596288.1	-	1	167	c.140C>T	c.(139-141)gCg>gTg	p.A47V	MCM3_ENST00000419835.2_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.A2V	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	2					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.A2V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CACGGTACCCGCCATGCCCGC	0.647000													4	7					0	0	0.000602	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962775	69962775	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:69962775T>A	ENST00000305231.7	+	1	583	c.537T>A	c.(535-537)acT>acA	p.T179T	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.T179T	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	179					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T179T(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCTACACTTTTGAAAAGC	0.403000													37	149					0	0	0.004289	0	0
REG1A	5967	broad.mit.edu	37	2	79349171	79349171	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:79349171G>T	ENST00000233735.1	+	4	344	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	81	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGGCCGAGGGTGCCTTTGT	0.517000													12	105					7.93312e-07	1.17475e-06	0.002450	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058337	152058337	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152058337C>G	ENST00000368806.1	-	3	1885	c.1821G>C	c.(1819-1821)ctG>ctC	p.L607L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	607							calcium ion binding	p.L607L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCACTGCCTCCAGAGCTCTGT	0.537000													36	136					0	0	0.002836	0	0
GK	2710	broad.mit.edu	37	X	30709248	30709248	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:30709248G>C	ENST00000378943.3	+	5	525	c.346G>C	c.(346-348)Gat>Cat	p.D116H	GK_ENST00000378946.3_Missense_Mutation_p.D116H|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.D116H	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	116					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.D116H(1)		central_nervous_system(1)|large_intestine(3)	4						AGTGTGGCTTGATCTAAGAAC	0.289000													5	147					0	0	0.000602	0	0
MAP3K1	4214	broad.mit.edu	37	5	56160759	56160759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:56160759C>T	ENST00000399503.3	+	4	1033	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	345					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Q182*(1)|p.Q345*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TATTGGGCCTCAGGTAGGATT	0.383000													6	66					0	0	0.001168	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694784	48694784	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:48694784T>C	ENST00000236495.5	+	4	399	c.349T>C	c.(349-351)Tca>Cca	p.S117P	SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.S117P	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.S110P(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						gatgaggaaatcaaggtctgg	0.522000													15	169					0	0	0.008871	0	0
F9	2158	broad.mit.edu	37	X	138644074	138644074	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:138644074T>A	ENST00000218099.2	+	8	1237	c.1230T>A	c.(1228-1230)gaT>gaA	p.D410E	F9_ENST00000394090.2_Missense_Mutation_p.D372E	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	410	Peptidase S1.		D -> H (in HEMB; Mechtal).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.D410E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTCAAGGAGATAGTGGGGGAC	0.438000													34	153					0	0	0.004289	0	0
VN1R2	317701	broad.mit.edu	37	19	53762367	53762367	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:53762367G>A	ENST00000341702.3	+	1	823	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	247					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G247R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGGAGATTTGGGATATTGTTC	0.438000													15	113					0	0	0.004007	0	0
GSAP	54103	broad.mit.edu	37	7	76984630	76984630	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:76984630A>G	ENST00000257626.7	-	16	1316	c.1238T>C	c.(1237-1239)tTa>tCa	p.L413S		NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.L413S(1)									AAGCTGTAATAAAGACGACTG	0.507000													16	121					0	0	0.007413	0	0
CCDC83	220047	broad.mit.edu	37	11	85593661	85593661	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:85593661G>A	ENST00000280245.4	+	4	798	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.E96K|CCDC83_ENST00000376067.1_Missense_Mutation_p.E53K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	96								p.E96K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAGGATGTTGAAGAAGCGAT	0.403000													17	89					0	0	0.004007	0	0
DBX2	440097	broad.mit.edu	37	12	45417664	45417664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:45417664C>A	ENST00000332700.6	-	3	684	c.513G>T	c.(511-513)atG>atT	p.M171I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	171			M -> V (in dbSNP:rs2731038).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M171I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GGAGAGGCAGCATGCTCTCTT	0.448000													6	68					3.59834e-05	4.94865e-05	0.001168	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157547	26157547	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:26157547C>A	ENST00000325250.1	+	2	632	c.445C>A	c.(445-447)Ctc>Atc	p.L149I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	149	MAGE.						protein binding	p.L149I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAATGAGATCCTCAAGAGAGC	0.418000													3	11					6.4e-05	8.69426e-05	0.004672	1	0
HRNR	388697	broad.mit.edu	37	1	152192118	152192118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152192118C>T	ENST00000368801.2	-	3	2062	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	663					keratinization		calcium ion binding|protein binding	p.G663S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCGGCCGCGACTAGGA	0.592000													57	258					0	0	0.003610	0	0
NALCN	259232	broad.mit.edu	37	13	102029296	102029296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:102029296G>T	ENST00000251127.6	-	5	568	c.487C>A	c.(487-489)Cca>Aca	p.P163T	NALCN_ENST00000376200.5_Missense_Mutation_p.P163T|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.P163T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	163						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P163T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGTCCTTGGCAGTTCAAAT	0.378000													13	54					2.27111e-07	3.45672e-07	0.001368	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167047	140167047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140167047C>A	ENST00000504120.2	+	1	1172	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H	PCDHA1_ENST00000394633.3_Missense_Mutation_p.P391H|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P391H	NM_018900.2	NP_061723.1												p.P391Q(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTAATGCCCCACGTCCCC	0.582000													14	130					3.27435e-08	5.15102e-08	0.002450	1	0
F8	2157	broad.mit.edu	37	X	154065930	154065930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154065930A>T	ENST00000360256.4	-	26	7198	c.6998T>A	c.(6997-6999)gTg>gAg	p.V2333E	F8_ENST00000330287.6_Missense_Mutation_p.V198E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2333	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.V2333E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATCTGGTGCACCCAACTCTG	0.572000													4	25					0	0	0.000248	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801457	140801457	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140801457C>T	ENST00000398587.2	+	1	696	c.663C>T	c.(661-663)ccC>ccT	p.P221P	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.P221P|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.P221P(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCGATCCCATCCGAAAGG	0.527000													7	77					0	0	0.001984	0	0
WDR36	134430	broad.mit.edu	37	5	110459809	110459809	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:110459809A>G	ENST00000506538.2	+	21	3013	c.2440A>G	c.(2440-2442)Aaa>Gaa	p.K814E	WDR36_ENST00000513710.2_Missense_Mutation_p.K814E	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	814					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.K814E(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTTTAAGTCTAAAGTGGTAAA	0.264000													10	89					0	0	0.000978	0	0
DIP2B	57609	broad.mit.edu	37	12	51108375	51108375	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:51108375A>G	ENST00000301180.5	+	23	2881	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	949						nucleus	catalytic activity|transcription factor binding	p.Q949Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCAAAAACAACCAGGTAATA	0.448000													15	51					0	0	0.004007	0	0
PKP4	8502	broad.mit.edu	37	2	159488326	159488326	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:159488326G>T	ENST00000389757.3	+	8	1340	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PKP4_ENST00000389759.3_Silent_p.V405V	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	405					cell adhesion	desmosome	protein binding	p.V405V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTCTGCCGTGTCTCCCGACT	0.498000										HNSCC(62;0.18)			17	138					1.99824e-07	3.06989e-07	0.004990	1	0
GBP5	115362	broad.mit.edu	37	1	89735201	89735201	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:89735201A>G	ENST00000343435.5	-	3	574	c.38T>C	c.(37-39)cTc>cCc	p.L13P	GBP5_ENST00000370459.3_Missense_Mutation_p.L13P|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	13						plasma membrane	GTP binding|GTPase activity	p.L13P(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTTCTCGATGAGGCACATGGG	0.478000													14	201					0	0	0.003163	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225732	26225732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:26225732G>A	ENST00000360408.1	+	1	350	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R117H(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CATGCCAAACGCGTGACCATC	0.557000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	98					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589341	136589341	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:136589341A>G	ENST00000531224.1	-	10	2608	c.2356T>C	c.(2356-2358)Tac>Cac	p.Y786H	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y784H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y784H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Y613H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y784H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y786H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Missense_Mutation_p.Y4H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	786					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.Y786H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCCTGAGTATTCTTTCATT	0.383000													9	174					0	0	0.008291	0	0
RWDD3	25950	broad.mit.edu	37	1	95712169	95712169	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:95712169G>A	ENST00000370202.4	+	3	721	c.645G>A	c.(643-645)atG>atA	p.M215I	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Intron	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	215						cytoplasm|nucleus	protein binding	p.M215I(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AAGAGAAAATGATTAGTGTAC	0.313000													7	70					0	0	0.001984	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693457	187693457	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:187693457C>T	ENST00000295131.2	-	9	1195	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	386					apoptosis		zinc ion binding	p.G386R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAACTTGTCCATCAATAGGG	0.348000													4	27					0	0	0.000248	0	0
DPY19L3	147991	broad.mit.edu	37	19	32949374	32949374	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:32949374C>T	ENST00000342179.5	+	12	1496	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	DPY19L3_ENST00000586987.1_Silent_p.I427I|DPY19L3_ENST00000590651.1_Intron|DPY19L3_ENST00000392250.2_Silent_p.I427I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	427						integral to membrane		p.I427I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTCTGTCCATCACAGTGATTG	0.373000													12	203					0	0	0.001368	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11861348	11861348	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:11861348C>T	ENST00000396516.2	-	12	1644	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E483K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	483						nucleus	nucleic acid binding|zinc ion binding	p.E483K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATTTATCTTCAACATTCTTT	0.289000													10	72					0	0	0.006214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318919	79318919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:79318919G>T	ENST00000428286.1	-	9	7733	c.6533C>A	c.(6532-6534)aCa>aAa	p.T2178K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T2537K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2537					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.T2537K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCTCTGTACATCTTTC	0.383000													48	255					3.21987e-24	6.06964e-24	0.003610	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251807	25251807	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:25251807T>C	ENST00000328086.7	-	7	3037	c.2234A>G	c.(2233-2235)aAg>aGg	p.K745R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	745					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K745R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTAGGGTCTCTTCCCCACAAA	0.478000													6	86					0	0	0.001168	0	0
SYTL2	54843	broad.mit.edu	37	11	85436161	85436161	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:85436161G>A	ENST00000359152.5	-	1	2910	c.2911C>T	c.(2911-2913)Cca>Tca	p.P971S	SYTL2_ENST00000525423.1_Missense_Mutation_p.P447S|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P447S|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.P447S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCACTCCTGGAGGATTTAGG	0.453000													4	64					0	0	0.000248	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	95					0	0	0.004672	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174720	11174720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:11174720C>T	ENST00000390673.2	-	1	499	c.451G>A	c.(451-453)Gag>Aag	p.E151K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.E151K(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACACTCTCTCATCCATGGTT	0.388000													13	115					0	0	0.001368	0	0
FSTL5	56884	broad.mit.edu	37	4	162463837	162463837	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:162463837C>A	ENST00000306100.5	-	9	1460	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	FSTL5_ENST00000379164.4_Missense_Mutation_p.V341F|FSTL5_ENST00000536695.1_Missense_Mutation_p.V341F|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.V341F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	342	Ig-like 2.					extracellular region	calcium ion binding	p.V342F(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCGGATGACTGGAGGAACT	0.393000													19	47					5.03518e-11	8.40478e-11	0.007413	1	0
DHX29	54505	broad.mit.edu	37	5	54573088	54573088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:54573088G>C	ENST00000251636.5	-	13	2280	c.2132C>G	c.(2131-2133)tCa>tGa	p.S711*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	711	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.S711*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGGAAGTCTGACTGGACACT	0.338000													5	197					0	0	0.001168	0	0
AK5	26289	broad.mit.edu	37	1	77763335	77763335	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:77763335G>A	ENST00000344720.5	+	4	1455	c.429G>A	c.(427-429)aaG>aaA	p.K143K	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Silent_p.K169K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	169					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.K169K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATTAAGAAAGAAGATCCACA	0.388000													15	64					0	0	0.002450	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906333	13906333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:13906333C>G	ENST00000279593.3	-	3	1137	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	310					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.E310Q(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)	AAGCTGTGCTCAGACAGCATG	0.483000													11	92					0	0	0.000978	0	0
KLHDC2	23588	broad.mit.edu	37	14	50249171	50249171	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:50249171G>C	ENST00000298307.5	+	11	1901	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	KLHDC2_ENST00000554589.1_Missense_Mutation_p.R347T|KLHDC2_ENST00000557247.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	347						nucleus	protein binding	p.R347T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GTCCATCACAGAGCTGTAAGT	0.368000													7	88					0	0	0.001984	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182101	57182101	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:57182101G>T	ENST00000504228.1	+	6	2538	c.2433G>T	c.(2431-2433)gtG>gtT	p.V811V	KIAA1211_ENST00000541073.1_Silent_p.V804V|KIAA1211_ENST00000264229.6_Silent_p.V811V			Q6ZU35	K1211_HUMAN	KIAA1211	811								p.V811V(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAGTGGTGGCCCACACAG	0.582000													7	48					8.12818e-05	0.000109714	0.001984	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221462	118221462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:118221462C>A	ENST00000402510.2	-	11	3730	c.3731G>T	c.(3730-3732)aGt>aTt	p.S1244I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1244								p.S1244I(1)|p.S1068I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGATTAGCACTCCCTGAATC	0.463000													7	43					1.06961e-07	1.65879e-07	0.003080	1	0
C3AR1	719	broad.mit.edu	37	12	8212740	8212740	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:8212740G>T	ENST00000307637.4	-	2	245	c.42C>A	c.(40-42)ctC>ctA	p.L14L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	14					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.L14L(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATGGCTGTGAGAGTAGGTCAG	0.428000													12	115					1.5842e-08	2.52242e-08	0.001855	1	0
CDKL3	51265	broad.mit.edu	37	5	133702187	133702187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:133702187C>A	ENST00000521118.1	-	2	142	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.V10L|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000265334.4_Missense_Mutation_p.V10L|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.V10L			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	10	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.V10L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTCTCCCACTTTTCCAAGG	0.338000													5	30					0.00198382	0.00254177	0.001984	1	0
LCE3B	353143	broad.mit.edu	37	1	152586476	152586476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152586476C>A	ENST00000335633.1	+	1	190	c.190C>A	c.(190-192)Cac>Aac	p.H64N		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	64	Cys-rich.				keratinization			p.H64N(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTGCAGGTCCCACCGATGCCG	0.662000													54	70					5.13769e-22	9.54766e-22	0.003610	1	0
KCNN2	3781	broad.mit.edu	37	5	113698885	113698885	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:113698885C>T	ENST00000512097.3	+	2	1431	c.413C>T	c.(412-414)gCg>gTg	p.A138V	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.A138V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	138						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A138V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AGCGACTACGCGCTCATCTTC	0.597000													4	25					0	0	0.000248	0	0
NEGR1	257194	broad.mit.edu	37	1	72058514	72058514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:72058514C>A	ENST00000357731.4	-	6	1165	c.926G>T	c.(925-927)aGc>aTc	p.S309I	NEGR1_ENST00000434200.1_Missense_Mutation_p.S263I|NEGR1_ENST00000306821.3_Missense_Mutation_p.S181I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	309	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane		p.S309I(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGAGGCAGGCTCGCATTGGT	0.483000													19	147					8.34094e-07	1.23235e-06	0.008871	1	0
PIPSL	266971	broad.mit.edu	37	10	95720197	95720197	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:95720197T>A	ENST00000480546.1	-	0	1100					NR_002319.2																						TGCCACCCCGTCGAGCCTCTC	0.517000													7	66					0	0	0.003080	0	0
BMP2	650	broad.mit.edu	37	20	6759046	6759046	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:6759046C>G	ENST00000378827.4	+	3	1720	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	167					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	p.F167L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ATAGCAGTTTCCATCACCGAA	0.413000													5	64					0	0	0.001168	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75807464	75807464	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:75807464A>T	ENST00000550916.1	+	3	614	c.567A>T	c.(565-567)atA>atT	p.I189I	GLIPR1L2_ENST00000441218.1_Silent_p.I124I|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000320460.4_Silent_p.I189I|GLIPR1L2_ENST00000378692.3_Silent_p.I82I	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	189						integral to membrane		p.I189I(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CAATTTTCATATGCAACTATG	0.274000													27	174					0	0	0.005443	0	0
ZNF676	163223	broad.mit.edu	37	19	22363099	22363099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:22363099C>A	ENST00000397121.2	-	3	1737	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474*(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGTTTCTCTGCAGCATGA	0.393000													28	107					1.08312e-15	1.8998e-15	0.001786	1	0
SYNJ1	8867	broad.mit.edu	37	21	34017287	34017287	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:34017287C>G	ENST00000382499.2	-	26	3537	c.3538G>C	c.(3538-3540)Gaa>Caa	p.E1180Q	SYNJ1_ENST00000322229.7_Missense_Mutation_p.E1141Q|SYNJ1_ENST00000382491.3_Intron|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1141Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1180Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1141	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.E1141Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCTCCAAATTCCTTTCTAGTG	0.343000													7	87					0	0	0.001984	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411383	98411383	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:98411383C>T	ENST00000339364.5	-	5	857	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PIK3AP1_ENST00000371110.2_Silent_p.L68L|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	246	DBB.					cytoplasm|plasma membrane		p.L246L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AATATATCTTCAGAGAAACGT	0.403000													4	34					0	0	0.000248	0	0
AGA	175	broad.mit.edu	37	4	178361559	178361559	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:178361559C>T	ENST00000264595.2	-	2	276	c.149G>A	c.(148-150)gGa>gAa	p.G50E	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	50					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.G50E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GGCAGAGCCTCCAGATGCTAA	0.453000													4	118					0	0	0.000602	0	0
KANK4	163782	broad.mit.edu	37	1	62703976	62703976	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:62703976C>T	ENST00000371153.4	-	10	3339	c.2961G>A	c.(2959-2961)gcG>gcA	p.A987A	KANK4_ENST00000317477.4_Silent_p.A125A|KANK4_ENST00000371150.1_Silent_p.A343A|KANK4_ENST00000354381.3_Silent_p.A359A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).					p.A987A(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						TGCCCTGCTCCGCGTGGGCTC	0.587000													8	65					0	0	0.004482	0	0
DLG3	1741	broad.mit.edu	37	X	69717029	69717029	+	Splice_Site	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:69717029G>A	ENST00000194900.4	+	15	2214		c.e15-1		DLG3_ENST00000374360.3_Intron|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Splice_Site|DLG3_ENST00000374355.3_Splice_Site			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.?(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TTGGCTTGCAGAGGGAGTGAC	0.507000													4	51					0	0	0.000248	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657674	8657674	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:8657674C>T	ENST00000270328.4	-	12	1826	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	ADAMTS10_ENST00000597188.1_Silent_p.L520L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	520	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L520L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCGTCTGGCACAGCGTGCCCT	0.716000													6	33					0	0	0.001984	0	0
LAG3	3902	broad.mit.edu	37	12	6884556	6884556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:6884556C>A	ENST00000203629.2	+	5	1232	c.899C>A	c.(898-900)cCt>cAt	p.P300H	LAG3_ENST00000441671.2_Missense_Mutation_p.P300H	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	300	Ig-like C2-type 2.					integral to membrane	antigen binding|MHC class II protein binding	p.P300H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGTGGACTCCTCCTGGGGGA	0.642000													17	81					6.94344e-10	1.13588e-09	0.006122	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238643909	238643909	+	Splice_Site	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:238643909A>C	ENST00000308482.9	+	10	558		c.e10-1		LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.?(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTTTGGTCGCAGGCGTCTGTG	0.582000													3	35					0	0	0.004672	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961412	73961412	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:73961412C>T	ENST00000373468.1	-	3	3631	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D994N			Q5QGS0	K2022_HUMAN	KIAA2022	994					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.D994N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCATTGAATCAAAGCTAAAG	0.428000													14	49					0	0	0.001855	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030676	10030676	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:10030676G>A	ENST00000378380.3	+	6	1788	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D487N|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.D487N(1)									TTGGTACATTGATGATTCAGA	0.398000													41	119					0	0	0.008740	0	0
COL6A3	1293	broad.mit.edu	37	2	238283131	238283131	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:238283131G>C	ENST00000295550.4	-	8	4055	c.3603C>G	c.(3601-3603)atC>atG	p.I1201M	COL6A3_ENST00000392003.2_Missense_Mutation_p.I794M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I995M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I995M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1000M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I995M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1001M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I594M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1201	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.I995M(1)|p.I1201M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTCTCAGAGATGACCTGTT	0.612000													6	51					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39783000	39783000	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:39783000C>T	ENST00000564288.1	+	29	4480	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L	MACF1_ENST00000372915.3_Silent_p.L1240L|MACF1_ENST00000317713.7_Silent_p.L1240L|MACF1_ENST00000539005.1_Silent_p.L1240L|MACF1_ENST00000567887.1_Silent_p.L1272L|MACF1_ENST00000361689.2_Silent_p.L1240L|MACF1_ENST00000545844.1_Silent_p.L1240L|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1240					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L1240L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCGAAATCTGGATTTGGA	0.532000													7	53					0	0	0.004482	0	0
ZNF683	257101	broad.mit.edu	37	1	26688417	26688417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:26688417G>T	ENST00000436292.1	-	7	1420	c.1300C>A	c.(1300-1302)Cgc>Agc	p.R434S	ZNF683_ENST00000349618.3_Missense_Mutation_p.R414S|ZNF683_ENST00000374204.1_Missense_Mutation_p.R414S|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R414S(1)|p.R419S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGGGTGAAGCGACTCCGGCAG	0.662000													16	60					3.45872e-05	4.81724e-05	0.004007	1	0
ALMS1	7840	broad.mit.edu	37	2	73680958	73680958	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:73680958C>G	ENST00000264448.6	+	8	7412	c.7301C>G	c.(7300-7302)tCt>tGt	p.S2434C	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2392C|ALMS1_ENST00000377715.1_Missense_Mutation_p.S2434C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2434					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.S2434C(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTACCAGAGTCTTTGGAATCA	0.393000													9	75					0	0	0.006214	0	0
PPEF1	5475	broad.mit.edu	37	X	18802079	18802079	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:18802079A>T	ENST00000361511.4	+	12	1319	c.825A>T	c.(823-825)acA>acT	p.T275T	PPEF1_ENST00000359763.6_Silent_p.T222T|PPEF1_ENST00000544635.1_Silent_p.T210T|PPEF1_ENST00000543630.1_Silent_p.T275T|PPEF1_ENST00000349874.5_Silent_p.T275T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	275	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.T275T(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAATCGGTACAATCGTTGACA	0.403000													35	122					0	0	0.003755	0	0
LILRA3	11026	broad.mit.edu	37	19	54804218	54804218	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:54804218G>T	ENST00000391745.1	-	5	323	c.7C>A	c.(7-9)Cga>Aga	p.R3R	LILRA3_ENST00000251390.3_5'UTR					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGAGCCCTCGGTGCTGGCAG	0.577000													14	50					1.3612e-06	2.00663e-06	0.003163	1	0
FAM114A1	92689	broad.mit.edu	37	4	38893400	38893400	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:38893400G>T	ENST00000358869.2	+	4	561	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	129						cytoplasm		p.G129C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATGGGCAGGCTGGGGATC	0.463000													18	61					3.41278e-10	5.61099e-10	0.004990	1	0
DDX17	10521	broad.mit.edu	37	22	38890696	38890696	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr22:38890696T>A	ENST00000396821.3	-	8	1252	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.S306C	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	306	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.S385C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGGTTGGCACTCAACTCCAGA	0.428000													39	100					0	0	0.004289	0	0
DSG3	1830	broad.mit.edu	37	18	29039937	29039937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:29039937G>T	ENST00000257189.4	+	6	730	c.647G>T	c.(646-648)gGg>gTg	p.G216V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	216	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G216V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAAACACTGGGGAAGTCCGT	0.433000													8	43					1.12685e-05	1.58971e-05	0.004482	1	0
DNAH9	1770	broad.mit.edu	37	17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:11687720C>T	ENST00000262442.3	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547000													24	143					0	0	0.003330	0	0
CD300LB	124599	broad.mit.edu	37	17	72522083	72522083	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:72522083G>A	ENST00000392621.1	-	2	289	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CD300LB_ENST00000314401.3_Silent_p.C95C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.C95C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TGAGGATCTTGCATGTATCCC	0.547000													34	159					0	0	0.003755	0	0
FKBP10	60681	broad.mit.edu	37	17	39974664	39974664	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:39974664C>T	ENST00000321562.4	+	4	716	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	204	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.Y204Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGACACCTACGTCGGCTCTG	0.592000													7	49					0	0	0.004482	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167048	140167048	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140167048C>A	ENST00000504120.2	+	1	1173	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	PCDHA1_ENST00000394633.3_Silent_p.P391P|PCDHA1_ENST00000378133.3_Silent_p.P391P	NM_018900.2	NP_061723.1												p.P391Q(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAATGCCCCACGTCCCCT	0.582000													15	128					6.31663e-08	9.84253e-08	0.003163	1	0
ITGA1	3672	broad.mit.edu	37	5	52145269	52145269	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:52145269A>T	ENST00000282588.6	+	2	590	c.132A>T	c.(130-132)gaA>gaT	p.E44D		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	44					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.E44D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCCCGGTGGAAGACATGTTTG	0.358000													17	147					0	0	0.004007	0	0
EPHB1	2047	broad.mit.edu	37	3	134880876	134880876	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:134880876A>G	ENST00000398015.3	+	7	1809	c.1439A>G	c.(1438-1440)aAc>aGc	p.N480S	EPHB1_ENST00000493838.1_Missense_Mutation_p.N41S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	480	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.N480S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AATGAGTTCAACTCCTCCATG	0.557000													11	74					0	0	0.000978	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200827089	200827089	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:200827089A>G	ENST00000358823.2	+	17	4609	c.4339A>G	c.(4339-4341)Act>Gct	p.T1447A	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T1431A|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T1458A	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1458	CKK.					cytoplasm|microtubule	protein binding	p.T1447A(1)									ACCCGCTAAAACTTTATCTGC	0.373000													64	166					0	0	0.003610	0	0
RUFY2	55680	broad.mit.edu	37	10	70154089	70154089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:70154089G>C	ENST00000388768.2	-	5	949	c.623C>G	c.(622-624)tCa>tGa	p.S208*	RUFY2_ENST00000342616.4_Nonsense_Mutation_p.S173*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.S115*|RUFY2_ENST00000399200.2_Nonsense_Mutation_p.S139*|RUFY2_ENST00000602465.1_Nonsense_Mutation_p.S173*	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	222	RUN.					nucleus	metal ion binding	p.S208*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ACTTACTTGTGAGTCTAAATC	0.433000													8	73					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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	60					4.7546e-09	7.64466e-09	0.004007	1	0
MOCOS	55034	broad.mit.edu	37	18	33800118	33800118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:33800118G>T	ENST00000261326.5	+	9	1919	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	633					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.R633L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAGGAACCCCGGCTCTGCCTG	0.527000													11	68					3.07112e-06	4.40843e-06	0.000978	1	0
SMNDC1	10285	broad.mit.edu	37	10	112053973	112053973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:112053973C>G	ENST00000369603.4	-	6	855	c.652G>C	c.(652-654)Gat>Cat	p.D218H	SMNDC1_ENST00000369592.1_Missense_Mutation_p.D218H	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	218					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding	p.D218H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		ATAGGTTTATCAGCAATTCCA	0.388000													16	100					0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94041456	94041456	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94041456T>C	ENST00000553484.1	+	17	2277	c.2123T>C	c.(2122-2124)tTt>tCt	p.F708S	UNC79_ENST00000555664.1_Missense_Mutation_p.F708S|UNC79_ENST00000393151.2_Missense_Mutation_p.F708S|UNC79_ENST00000256339.4_Missense_Mutation_p.F531S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	708						integral to membrane		p.F708S(1)|p.F531S(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						ATAAGTATGTTTTCTGATGGA	0.368000													5	46					0	0	0.000602	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476113	89476113	+	RNA	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:89476113C>A	ENST00000484817.1	-	0	88																											CACAATATCCCCACTGGATCC	0.423000													19	109					1.40151e-16	2.49157e-16	0.001523	1	0
FAM154A	158297	broad.mit.edu	37	9	18950803	18950803	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:18950803C>T	ENST00000380534.4	-	2	450	c.171G>A	c.(169-171)cgG>cgA	p.R57R	FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Silent_p.R57R	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	57								p.R57R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTGGTACTCCCGCCTTGGCT	0.443000													28	115					0	0	0.008361	0	0
PRLHR	2834	broad.mit.edu	37	10	120353949	120353949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:120353949G>T	ENST00000239032.2	-	2	946	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	PRLHR_ENST00000369169.1_Missense_Mutation_p.R270S	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	270					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.R270S(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGCCGAGCGCGGTCCCAGTCG	0.677000													7	28					8.12818e-05	0.000109714	0.001984	1	0
MMP12	4321	broad.mit.edu	37	11	102742618	102742618	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:102742618G>T	ENST00000532855.1	-	0	511							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q139K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTCCATACTTGGAAAGCTTTC	0.408000													11	48					7.03913e-09	1.12901e-08	0.001368	1	0
WDR63	126820	broad.mit.edu	37	1	85595688	85595688	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:85595688C>A	ENST00000294664.6	+	22	2605	c.2425C>A	c.(2425-2427)Cac>Aac	p.H809N	WDR63_ENST00000370596.1_Missense_Mutation_p.H770N|WDR63_ENST00000326813.8_Missense_Mutation_p.H770N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	809								p.H809N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAGTGTCAACCACTATTTTGA	0.418000													38	247					9.85521e-28	1.87392e-27	0.006230	1	0
MS4A5	64232	broad.mit.edu	37	11	60201330	60201330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:60201330C>A	ENST00000300190.2	+	4	518	c.432C>A	c.(430-432)aaC>aaA	p.N144K	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	144						integral to membrane	receptor activity	p.N144K(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TAGATCAAAACTACATTTGTG	0.368000													9	100					1.12685e-05	1.58971e-05	0.004482	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100801810	100801810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:100801810C>T	ENST00000268070.4	-	6	1010	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	302	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R302Q(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)		CTCCAGGGACCGCTCACCATG	0.547000													4	23					0	0	0.000248	0	0
SRPR	6734	broad.mit.edu	37	11	126134327	126134327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:126134327C>T	ENST00000332118.6	-	12	1787	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	SRPR_ENST00000532259.1_Missense_Mutation_p.D517N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	545					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.D545N(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGCACCAAATCAGGTGTATTG	0.542000													9	60					0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494959	1494959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:1494959C>A	ENST00000283415.3	-	3	481	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	117					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.V117L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CGCCCCTTCACGGCCACCCGG	0.672000													6	61					0.00116845	0.00152083	0.001168	1	0
HERC4	26091	broad.mit.edu	37	10	69714383	69714383	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:69714383T>A	ENST00000395198.3	-	20	2577	c.2330A>T	c.(2329-2331)gAa>gTa	p.E777V	HERC4_ENST00000277817.6_Missense_Mutation_p.E667V|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.E769V|HERC4_ENST00000412272.2_Missense_Mutation_p.E777V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	777	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.E777V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCTGGAATCTTCATAATACCT	0.378000													13	105					0	0	0.001855	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757886	62757886	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:62757886C>A	ENST00000281156.4	-	3	511	c.233G>T	c.(232-234)gGg>gTg	p.G78V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	78	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.G78V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCAATTTCCCCACAAAATT	0.363000													10	69					0.000442599	0.000583022	0.006214	1	0
RNF17	56163	broad.mit.edu	37	13	25367307	25367307	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:25367307A>G	ENST00000255324.5	+	10	1115	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G	RNF17_ENST00000255325.5_Missense_Mutation_p.S356G|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.S355G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	355					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.S355G(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTCCTAACCAGTGAAGCACC	0.393000													34	176					0	0	0.002836	0	0
OTOGL	283310	broad.mit.edu	37	12	80661057	80661057	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:80661057G>T	ENST00000458043.2	+	21	2394	c.2388G>T	c.(2386-2388)agG>agT	p.R796S	OTOGL_ENST00000547103.1_Missense_Mutation_p.R796S	NM_173591.3	NP_775862.3			otogelin-like									p.R796S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTCATTATAGGGGCAGTGTTT	0.388000													5	11					1.23904e-05	1.74049e-05	0.000602	1	0
PXDN	7837	broad.mit.edu	37	2	1653262	1653262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:1653262C>A	ENST00000252804.4	-	17	2340	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	764					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.E764*(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCAGGCGCTCGAAGGCGGTC	0.632000													27	130					5.77227e-19	1.06365e-18	0.008361	1	0
MCAM	4162	broad.mit.edu	37	11	119183624	119183624	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:119183624T>A	ENST00000392814.1	-	1	1171	c.442A>T	c.(442-444)Agt>Tgt	p.S148C	MCAM_ENST00000264036.4_Missense_Mutation_p.S199C			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	199	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.S199C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TACAAACCACTCGACTCCACA	0.567000													15	71					0	0	0.004007	0	0
GPX6	257202	broad.mit.edu	37	6	28483474	28483474	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:28483474A>G	ENST00000361902.1	-	1	96	c.47T>C	c.(46-48)gTt>gCt	p.V16A	GPX6_ENST00000474923.1_Missense_Mutation_p.V16A|GPX6_ENST00000483058.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	16					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.V16A(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCAAAGCCAACCAGGAAAAA	0.542000													5	36					0	0	0.001984	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220361	130220361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:130220361C>G	ENST00000276211.5	+	10	1685	c.1340C>G	c.(1339-1341)gCa>gGa	p.A447G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A435G|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A311G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	447					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A447G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCCGGAAGCACTTGATTTT	0.483000													34	91					0	0	0.003755	0	0
WNT7A	7476	broad.mit.edu	37	3	13896097	13896097	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:13896097C>A	ENST00000285018.4	-	3	806	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	168					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.D168Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCCGGGCATCCACAAAGACC	0.622000													24	130					4.26978e-12	7.16362e-12	0.003330	1	0
MYO18A	399687	broad.mit.edu	37	17	27445428	27445428	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:27445428C>G	ENST00000527372.1	-	9	2040	c.1860G>C	c.(1858-1860)gaG>gaC	p.E620D	MYO18A_ENST00000354329.4_Missense_Mutation_p.E620D|MYO18A_ENST00000533112.1_Missense_Mutation_p.E620D|MYO18A_ENST00000531253.1_Missense_Mutation_p.E620D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	620	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E620D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACACATTGTTCTCTGCCAAGT	0.597000													4	21					0	0	0.000602	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581891	178581891	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:178581891G>A	ENST00000251582.7	-	7	1263	c.1162C>T	c.(1162-1164)Ccg>Tcg	p.P388S	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P388S	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	388	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P388S(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)		CTGCGGACCGGATGGCACATG	0.637000													4	21					0	0	0.001984	0	0
RAB39A	54734	broad.mit.edu	37	11	107832852	107832852	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:107832852A>T	ENST00000320578.2	+	2	474	c.408A>T	c.(406-408)caA>caT	p.Q136H		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q136H(1)									CACAACGTCAAGTTACAAGGG	0.378000													17	52					0	0	0.004990	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064946	5064946	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:5064946A>G	ENST00000251170.7	+	16	2246	c.2066A>G	c.(2065-2067)cAt>cGt	p.H689R	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	689	Ser-rich.					integral to membrane|intracellular	transporter activity	p.H689R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCCAGTCTCATAGCAGCTCC	0.642000													13	64					0	0	0.002450	0	0
SGMS2	166929	broad.mit.edu	37	4	108817064	108817064	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:108817064G>T	ENST00000394684.4	+	3	912	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.D119Y|SGMS2_ENST00000359079.4_Missense_Mutation_p.D119Y	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	119					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.D119Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CAAGTTTTTTGATTACATTGA	0.423000													9	79					0.000274275	0.00036422	0.004482	1	0
TENM2	57451	broad.mit.edu	37	5	167645439	167645439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:167645439G>T	ENST00000519204.1	+	22	4298	c.4180G>T	c.(4180-4182)Ggg>Tgg	p.G1394W	TENM2_ENST00000403607.2_Missense_Mutation_p.G1339W|TENM2_ENST00000518659.1_Missense_Mutation_p.G1515W|TENM2_ENST00000545108.1_Missense_Mutation_p.G1514W|TENM2_ENST00000520394.1_Missense_Mutation_p.G1276W					teneurin transmembrane protein 2									p.G1348W(1)|p.G1394W(1)|p.G1515W(1)									CCTTTTAGCTGGGGCAGCCTC	0.498000													39	173					4.14481e-20	7.68077e-20	0.006230	1	0
SRPX2	27286	broad.mit.edu	37	X	99920554	99920554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:99920554G>T	ENST00000373004.3	+	7	1109	c.681G>T	c.(679-681)gaG>gaT	p.E227D		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	227	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.E227D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGGCCCTGAGCCTGGCTCTC	0.527000													9	122					1.12685e-05	1.58971e-05	0.004482	1	0
CCDC158	339965	broad.mit.edu	37	4	77300479	77300479	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:77300479A>G	ENST00000388914.3	-	8	1145	c.993T>C	c.(991-993)tcT>tcC	p.S331S	CCDC158_ENST00000434846.2_Silent_p.S331S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	331								p.S331S(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						CCCTTAATTCAGAACGTAGCT	0.383000													3	81					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152326042	152326042	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152326042C>G	ENST00000388718.5	-	3	4292	c.4220G>C	c.(4219-4221)gGa>gCa	p.G1407A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1407							calcium ion binding|structural molecule activity	p.G1407A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.527000													33	402					0	0	0.001786	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953507	161953507	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:161953507G>A	ENST00000294794.3	-	8	2634	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	OLFML2B_ENST00000367940.2_Silent_p.D738D|OLFML2B_ENST00000367938.1_Silent_p.D220D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	737	Olfactomedin-like.							p.D737D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGGCCATTGTCCCAGGCAT	0.532000													53	129					0	0	0.003610	0	0
LRRC66	339977	broad.mit.edu	37	4	52861433	52861433	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:52861433T>A	ENST00000343457.3	-	4	1761	c.1755A>T	c.(1753-1755)acA>acT	p.T585T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	585						integral to membrane		p.T585T(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAGGGAAGCTGTTATTTCTC	0.507000													12	181					0	0	0.001368	0	0
PNKD	25953	broad.mit.edu	37	2	219206749	219206749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:219206749C>G	ENST00000273077.4	+	7	714	c.663C>G	c.(661-663)atC>atG	p.I221M	PNKD_ENST00000258362.3_Missense_Mutation_p.I197M|PNKD_ENST00000436005.2_Missense_Mutation_p.I161M|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	221						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCAGATCCGGGCCCTGG	0.602000													7	58					0	0	0.003080	0	0
SORCS3	22986	broad.mit.edu	37	10	106960956	106960956	+	Missense_Mutation	SNP	C	C	A	rs145883987		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:106960956C>A	ENST00000369701.3	+	16	2433	c.2206C>A	c.(2206-2208)Cac>Aac	p.H736N	SORCS3_ENST00000369699.4_Missense_Mutation_p.H22N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	736						integral to membrane	neuropeptide receptor activity	p.H736N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGGCCGAGACCACTCAGGATC	0.488000													9	103					7.48243e-07	1.1181e-06	0.006214	1	0
LMAN1	3998	broad.mit.edu	37	18	57013159	57013159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:57013159C>A	ENST00000251047.5	-	8	1664	c.947G>T	c.(946-948)gGg>gTg	p.G316V		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	316					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.G316V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACCAGGCTGCCCTTGGAGGTC	0.488000													22	70					6.44725e-10	1.05735e-09	0.002299	1	0
F9	2158	broad.mit.edu	37	X	138644077	138644077	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:138644077T>G	ENST00000218099.2	+	8	1240	c.1233T>G	c.(1231-1233)agT>agG	p.S411R	F9_ENST00000394090.2_Missense_Mutation_p.S373R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	411	Peptidase S1.		S -> G (in HEMB; Varel).|S -> I (in HEMB; Schmallenberg).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.S411R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAGGAGATAGTGGGGGACCCC	0.433000													34	150					0	0	0.004289	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74663994	74663994	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:74663994C>T	ENST00000370895.1	+	1	67	c.32C>T	c.(31-33)tCg>tTg	p.S11L	TNNI3K_ENST00000370893.1_Missense_Mutation_p.S11L|FPGT_ENST00000482102.2_Missense_Mutation_p.S11L|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S11L|FPGT_ENST00000370898.2_Missense_Mutation_p.S11L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S11L|FPGT_ENST00000467578.2_Missense_Mutation_p.S11L|FPGT_ENST00000524915.1_Missense_Mutation_p.S11L|FPGT_ENST00000534056.1_Missense_Mutation_p.S11L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S11L|FPGT_ENST00000370894.4_Missense_Mutation_p.S11L			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.S11L(1)									CCGGAAGTATCGCTGCGAGAA	0.642000													11	30					0	0	0.000978	0	0
MAPK14	1432	broad.mit.edu	37	6	36075268	36075268	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:36075268C>G	ENST00000229795.3	+	11	1325	c.878C>G	c.(877-879)tCa>tGa	p.S293*	MAPK14_ENST00000310795.4_Missense_Mutation_p.Q267E|MAPK14_ENST00000468133.1_Nonsense_Mutation_p.S216*|MAPK14_ENST00000229794.4_Nonsense_Mutation_p.S293*	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	293	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	p.S293*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTATTGGACTCAGATAAGAGA	0.438000													7	151					0	0	0.003080	0	0
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428000													22	377					0	0	0.002299	0	0
KALRN	8997	broad.mit.edu	37	3	124201673	124201673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:124201673G>A	ENST00000360013.3	+	28	4331	c.4204G>A	c.(4204-4206)Ggt>Agt	p.G1402S	KALRN_ENST00000460856.1_Missense_Mutation_p.G1393S|KALRN_ENST00000240874.3_Missense_Mutation_p.G1402S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1402	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.G1402S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGCGGCATGGTCTGGCCAA	0.512000													23	117					0	0	0.002780	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:120510124G>C	ENST00000256646.2	-	8	1604	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	462	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.S462*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	140					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43820365	43820365	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:43820365C>A	ENST00000382031.1	+	5	7439	c.7408C>A	c.(7408-7410)Cag>Aag	p.Q2470K	MAP1A_ENST00000300231.5_Missense_Mutation_p.Q2232K|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q2232K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2232						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.Q2232K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCACTGCCCCAGCTCCCATC	0.637000													15	97					1.52009e-12	2.58337e-12	0.003163	1	0
ZNF121	7675	broad.mit.edu	37	19	9677452	9677452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9677452C>A	ENST00000586602.1	-	6	753	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	ZNF121_ENST00000320451.6_Nonsense_Mutation_p.E113*			P58317	ZN121_HUMAN	zinc finger protein 121	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E113*(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGAGTGTTTCTCCATTGTGA	0.413000													12	56					4.3838e-07	6.62621e-07	0.001855	1	0
SUGP2	10147	broad.mit.edu	37	19	19121141	19121141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19121141C>G	ENST00000601879.1	-	5	2158	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	SUGP2_ENST00000452918.2_Missense_Mutation_p.D621H|SUGP2_ENST00000456085.2_Missense_Mutation_p.D390H|SUGP2_ENST00000600377.1_Missense_Mutation_p.D635H|SUGP2_ENST00000337018.6_Missense_Mutation_p.D621H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	621					mRNA processing|RNA splicing	nucleus	RNA binding	p.D621H(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTATTTTCATCAGACAAAAAC	0.438000													23	207					0	0	0.002780	0	0
CDC20B	166979	broad.mit.edu	37	5	54415705	54415705	+	Silent	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:54415705T>G	ENST00000296733.1	-	11	1557	c.1383A>C	c.(1381-1383)gcA>gcC	p.A461A	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.A461A|CDC20B_ENST00000322374.6_Silent_p.A419A	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	461								p.A461A(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTGACCAGTTGCAATCTCCT	0.393000													149	357					0	0	0.003610	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708736	94708736	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94708736C>T	ENST00000304338.3	+	11	1411	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	419						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.C419*(1)|p.C419C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGCTATTTGCTTTTATGAAG	0.323000													9	110					0	0	0.004482	0	0
ITGA2	3673	broad.mit.edu	37	5	52369034	52369034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:52369034C>A	ENST00000296585.5	+	20	2659	c.2516C>A	c.(2515-2517)aCt>aAt	p.T839N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	839					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.T839N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATACAACACTGGAATTGTT	0.363000													23	391					7.41877e-09	1.187e-08	0.001882	1	0
MERTK	10461	broad.mit.edu	37	2	112786085	112786085	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:112786085G>A	ENST00000295408.4	+	19	2901	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	MERTK_ENST00000409780.1_Missense_Mutation_p.E706K|MERTK_ENST00000421804.2_Missense_Mutation_p.E882K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	882					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E882K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGAGAGCTCTGAGGGCCTGGC	0.527000													7	156					0	0	0.001984	0	0
GRK7	131890	broad.mit.edu	37	3	141535733	141535733	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:141535733T>C	ENST00000264952.2	+	4	1640	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	501	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.D501D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGACAAAGATAAGCAGTTCT	0.443000													27	152					0	0	0.007291	0	0
NEK10	152110	broad.mit.edu	37	3	27332233	27332233	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:27332233T>G	ENST00000429845.2	-	20	1980	c.1618A>C	c.(1618-1620)Agt>Cgt	p.S540R	NEK10_ENST00000341435.5_Missense_Mutation_p.S540R|NEK10_ENST00000357467.2_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	540	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S540R(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTGACCACTATGCTTTCTA	0.348000													4	50					0	0	0.001984	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554442	140554442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140554442G>T	ENST00000231137.3	+	1	2200	c.2026G>T	c.(2026-2028)Gcg>Tcg	p.A676S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A676S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCGGAGGCGGCCCCGGA	0.692000													19	184					1.56452e-12	2.65201e-12	0.007413	1	0
COG2	22796	broad.mit.edu	37	1	230814766	230814766	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:230814766G>A	ENST00000534989.1	+	10	1292	c.957G>A	c.(955-957)aaG>aaA	p.K319K	COG2_ENST00000366669.4_Silent_p.K378K|COG2_ENST00000535166.1_Silent_p.K262K|COG2_ENST00000546013.1_Silent_p.K67K|COG2_ENST00000366668.3_Silent_p.K378K|COG2_ENST00000494371.1_3'UTR			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	378					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.K378K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTTCAATAAGAAGTGGAACT	0.443000													4	71					0	0	0.000248	0	0
NUAK1	9891	broad.mit.edu	37	12	106461516	106461516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:106461516C>A	ENST00000261402.2	-	7	2429	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	350							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K350N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCCAGGCCCTTCATTTTGG	0.567000													12	77					5.50884e-06	7.85608e-06	0.001368	1	0
ADCY8	114	broad.mit.edu	37	8	131826459	131826459	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:131826459G>T	ENST00000286355.5	-	14	4861	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ADCY8_ENST00000377928.3_Silent_p.A792A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	923					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A923A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCCAGGCGGGCTGTGTACT	0.507000										HNSCC(32;0.087)			29	69					2.12542e-12	3.59349e-12	0.006320	1	0
LIG1	3978	broad.mit.edu	37	19	48665538	48665538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:48665538C>A	ENST00000263274.7	-	3	507	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Nonsense_Mutation_p.E30*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	30					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.E30*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGCTCCGTCTCTCTGCTGCTA	0.458000								Nucleotide excision repair (NER)					16	209					3.41278e-10	5.61099e-10	0.004990	1	0
WDR13	64743	broad.mit.edu	37	X	48458017	48458017	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:48458017T>G	ENST00000218056.5	+	4	940	c.435T>G	c.(433-435)agT>agG	p.S145R	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	145						cytoplasm|nucleus		p.S145R(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CAGAGGCAAGTCGGGCCATGG	0.607000													7	99					0	0	0.001984	0	0
ITGAX	3687	broad.mit.edu	37	16	31373976	31373976	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:31373976G>T	ENST00000268296.4	+	12	1382	c.1261G>T	c.(1261-1263)Gtc>Ttc	p.V421F	ITGAX_ENST00000562522.1_Missense_Mutation_p.V421F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	421					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.V421F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCAGAGCCTGGTCCTGGGGGC	0.657000													5	20					3.59834e-05	4.94865e-05	0.001168	1	0
TLR1	7096	broad.mit.edu	37	4	38799759	38799759	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:38799759A>G	ENST00000308979.2	-	4	967	c.694T>C	c.(694-696)Tac>Cac	p.Y232H	TLR1_ENST00000502213.2_Missense_Mutation_p.Y232H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	232					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	p.Y232H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTAGGAAGTAAGAACATTTG	0.313000													4	60					0	0	0.000248	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378186	149378186	+	RNA	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:149378186C>T	ENST00000415338.1	-	0	1061																											TGTCCACTTGCTCCCCGTGAG	0.537000													19	39					0	0	0.006122	0	0
NUP107	57122	broad.mit.edu	37	12	69084516	69084516	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:69084516A>T	ENST00000229179.4	+	4	625	c.293A>T	c.(292-294)aAt>aTt	p.N98I	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.N69I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	98					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.N98I(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCTTTGGAAATCTCTCCATG	0.493000													17	83					0	0	0.004007	0	0
BRINP3	339479	broad.mit.edu	37	1	190067362	190067362	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:190067362T>A	ENST00000367462.3	-	8	2318	c.2087A>T	c.(2086-2088)cAg>cTg	p.Q696L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.Q594L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		696						extracellular region		p.Q696L(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)					TGCTGAATCCTGGGATCCCTG	0.463000													45	99					0	0	0.002222	0	0
GABRG3	2567	broad.mit.edu	37	15	27222202	27222202	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:27222202G>T	ENST00000333743.6	+	2	361	c.107G>T	c.(106-108)tGg>tTg	p.W36L	GABRG3_ENST00000555083.1_Missense_Mutation_p.W36L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	36					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W36L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACCAAAAGTGGGTCTTGGCT	0.423000													18	66					3.41278e-10	5.61099e-10	0.004990	1	0
PSEN2	5664	broad.mit.edu	37	1	227068353	227068353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:227068353G>T	ENST00000366782.1	+	3	507	c.7G>T	c.(7-9)Gca>Tca	p.A3S	PSEN2_ENST00000391872.2_Missense_Mutation_p.A3S|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000422240.2_Intron|PSEN2_ENST00000366783.3_Intron			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	0					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGAGATGTTGGCAGGGACTGT	0.537000													16	211					2.94398e-08	4.65362e-08	0.007413	1	0
ZNF559	84527	broad.mit.edu	37	19	9452607	9452607	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9452607A>T	ENST00000393883.2	+	6	1128	c.480A>T	c.(478-480)ctA>ctT	p.L160L	ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000603380.1_Silent_p.L160L|ZNF559_ENST00000587557.1_Silent_p.L224L|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.L80L|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L160L(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCAACATCTACATCTTGTTT	0.373000													27	134					0	0	0.005443	0	0
AIP	9049	broad.mit.edu	37	11	67250704	67250704	+	Silent	SNP	C	C	T	rs104895074		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:67250704C>T	ENST00000279146.3	+	1	193	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	25					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	p.L25L(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GAGGAGAGCTCCCGGACTTTC	0.617000									Familial Isolated Pituitary Adenoma				5	68					0	0	0.000602	0	0
NCAN	1463	broad.mit.edu	37	19	19338336	19338336	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19338336T>A	ENST00000252575.5	+	8	1950	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q	NCAN_ENST00000538881.1_Missense_Mutation_p.L87Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	636					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.L650Q(1)|p.L636Q(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGGCCATGCTGCGTGGTCCC	0.637000													14	56					0	0	0.003163	0	0
PKHD1	5314	broad.mit.edu	37	6	51890383	51890383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:51890383C>A	ENST00000371117.3	-	32	4500	c.4225G>T	c.(4225-4227)Gtg>Ttg	p.V1409L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1409L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1409	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1409L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCCCCTCACAGTAAGTATG	0.498000													29	117					8.58068e-18	1.56795e-17	0.007291	1	0
AACS	65985	broad.mit.edu	37	12	125576036	125576036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:125576036C>G	ENST00000316519.6	+	5	743	c.537C>G	c.(535-537)atC>atG	p.I179M	AACS_ENST00000261686.6_Missense_Mutation_p.I179M	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	179					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.I179M(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTGGTGCCATCTGGAGCTCCA	0.587000													8	38					0	0	0.006214	0	0
CEP350	9857	broad.mit.edu	37	1	179989900	179989900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:179989900G>T	ENST00000367607.3	+	12	3409	c.2991G>T	c.(2989-2991)gaG>gaT	p.E997D		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	997						centrosome|nucleus|spindle		p.E997D(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGAAGAAGAGGGAGACCAGG	0.418000													26	160					1.55469e-16	2.75643e-16	0.003330	1	0
ICAM1	3383	broad.mit.edu	37	19	10395694	10395694	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:10395694G>C	ENST00000264832.3	+	6	1741	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.V250V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	472					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.V472V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGGTGACCGTGAATGTGCTCT	0.627000													4	42					0	0	0.000602	0	0
UBBP4	23666	broad.mit.edu	37	17	21731267	21731267	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:21731267C>G	ENST00000584755.1	+	2	966	c.569C>G	c.(568-570)cCg>cGg	p.P190R	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.P190R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCGATCAGCAGA	0.547000													28	98					0	0	0.005443	0	0
RABEP2	79874	broad.mit.edu	37	16	28926016	28926016	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:28926016C>T	ENST00000358201.4	-	4	1108	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RABEP2_ENST00000544477.1_Missense_Mutation_p.E103K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E174K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	174					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	p.E174K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						ATCAGCTCCTCGGCCCTCAGC	0.677000													13	127					0	0	0.004990	0	0
C3	718	broad.mit.edu	37	19	6710817	6710817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:6710817C>G	ENST00000245907.6	-	13	1611	c.1519G>C	c.(1519-1521)Gtg>Ctg	p.V507L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	507					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.V507L(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGCTCTCGCACCTGGCGTCCC	0.652000													15	46					0	0	0.007413	0	0
SDE2	163859	broad.mit.edu	37	1	226187006	226187006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:226187006T>A	ENST00000272091.7	-	1	26	c.8A>T	c.(7-9)gAg>gTg	p.E3V	SDE2_ENST00000366817.1_5'UTR	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.E3V(2)									CGCCGCGGCCTCCGCCATGTC	0.677000													12	44					0	0	0.001368	0	0
CHD8	57680	broad.mit.edu	37	14	21860803	21860803	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:21860803G>C	ENST00000399982.2	-	33	6698	c.6634C>G	c.(6634-6636)Cca>Gca	p.P2212A	CHD8_ENST00000557364.1_Missense_Mutation_p.P2212A|CHD8_ENST00000430710.3_Missense_Mutation_p.P1933A	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2212					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.P2212A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGGGACTGGAGAGTCACCA	0.552000													14	140					0	0	0.002450	0	0
GRID2	2895	broad.mit.edu	37	4	94690553	94690553	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:94690553G>A	ENST00000282020.4	+	15	2811	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	GRID2_ENST00000510992.1_Silent_p.L756L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	851					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.L851L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAGCCATGCTGGAGACGTGGT	0.483000													12	83					0	0	0.001368	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222989	134222989	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:134222989C>A	ENST00000359579.4	+	8	1105	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	262					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.P262H(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATTGTCATCCCCAAGTCTGTG	0.522000													45	222					1.51926e-22	2.83134e-22	0.003610	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504238	151504238	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:151504238C>G	ENST00000317605.4	+	1	1162	c.57C>G	c.(55-57)cgC>cgG	p.R19R	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	19					nervous system development	nucleus		p.R19R(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACACTGAGCGCTGTCAGGCGC	0.592000													9	22					0	0	0.006214	0	0
GP5	2814	broad.mit.edu	37	3	194118856	194118856	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:194118856G>C	ENST00000401815.1	-	1	227	c.156C>G	c.(154-156)ctC>ctG	p.L52L	GP5_ENST00000323007.3_Silent_p.L52L			P40197	GPV_HUMAN	glycoprotein V (platelet)	52					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.L52L(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGATGTGCGTGAGGTTGGTGG	0.677000													12	70					0	0	0.001368	0	0
SLC16A1	6566	broad.mit.edu	37	1	113456568	113456568	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:113456568G>C	ENST00000538576.1	-	5	2279	c.1448C>G	c.(1447-1449)tCt>tGt	p.S483C	SLC16A1_ENST00000369626.3_Missense_Mutation_p.S483C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	483					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.S483C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTGGTCCGGAGATTCTGCTGC	0.468000													36	205					0	0	0.005524	0	0
MSRB3	253827	broad.mit.edu	37	12	65702399	65702399	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:65702399C>G	ENST00000308259.5	+	2	314	c.40C>G	c.(40-42)Cag>Gag	p.Q14E	MSRB3_ENST00000535664.1_Missense_Mutation_p.Q14E|MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000540804.1_Intron	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	0					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.Q14E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GACAAAGAGCCAGCCAGTAGC	0.512000													11	106					0	0	0.000978	0	0
OR6F1	343169	broad.mit.edu	37	1	247875386	247875386	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:247875386G>T	ENST00000302084.2	-	1	719	c.672C>A	c.(670-672)acC>acA	p.T224T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224T(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTGAGGATGGTGCTGATGA	0.527000													29	106					9.39395e-14	1.63027e-13	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179544735	179544735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:179544735C>T	ENST00000589042.1	-	140	33690	c.33466G>A	c.(33466-33468)Gag>Aag	p.E11156K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9912K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10839K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10839	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E9912K(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)			ACAACTTCCTCTTCAAAGGCA	0.373000													10	72					0	0	0.000978	0	0
SSPO	23145	broad.mit.edu	37	7	149492429	149492429	+	RNA	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:149492429A>T	ENST00000378016.2	+	0	6318							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTCAGGGATGGCACGCTG	0.657000													4	31					0	0	0.000248	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688837	65688837	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:65688837A>T	ENST00000335257.6	+	9	1179	c.832A>T	c.(832-834)Acc>Tcc	p.T278S	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.T278S			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	278					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.T278S(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCTCCATCCACCCCTCTCTC	0.547000													27	137					0	0	0.004656	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716499	142716499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:142716499C>G	ENST00000381779.4	-	2	2651	c.2426G>C	c.(2425-2427)aGt>aCt	p.S809T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S809T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S809T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	809						integral to membrane		p.S809T(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAATACTCACTCTTCCTTTG	0.423000													12	132					0	0	0.000978	0	0
HYAL4	23553	broad.mit.edu	37	7	123508376	123508376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:123508376G>T	ENST00000223026.4	+	3	687	c.49G>T	c.(49-51)Gta>Tta	p.V17L	HYAL4_ENST00000476325.1_Missense_Mutation_p.V17L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	17					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.V17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTTCAACCAGTACATCTCAC	0.343000													24	157					6.36457e-07	9.55414e-07	0.003954	1	0
GPR101	83550	broad.mit.edu	37	X	136113029	136113029	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:136113029C>T	ENST00000298110.1	-	1	804	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	269						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E269K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCCTTGACCTCACCTTCATGC	0.572000													29	263					0	0	0.006320	0	0
MYH2	4620	broad.mit.edu	37	17	10448670	10448670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:10448670C>A	ENST00000245503.5	-	5	882	c.498G>T	c.(496-498)atG>atT	p.M166I	MYH2_ENST00000532183.1_Missense_Mutation_p.M166I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M166I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	166	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M166I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCAGTCAGCATGAACTGAT	0.522000													44	245					8.0703e-11	1.34368e-10	0.003610	1	0
CNTN3	5067	broad.mit.edu	37	3	74334570	74334570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:74334570C>A	ENST00000263665.6	-	19	2617	c.2590G>T	c.(2590-2592)Gcc>Tcc	p.A864S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	864	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A864S(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)		CGTAGTCTGGCTGATGTCTCA	0.547000													20	167					1.87028e-06	2.73863e-06	0.001882	1	0
ASAP3	55616	broad.mit.edu	37	1	23759638	23759638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:23759638G>A	ENST00000336689.3	-	22	2299	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.P256L|ASAP3_ENST00000437606.2_Missense_Mutation_p.P743L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	752					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.P752L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAAGGGCGGGGGACAGTCCTC	0.582000													8	134					0	0	0.004482	0	0
PXDN	7837	broad.mit.edu	37	2	1652789	1652789	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:1652789A>T	ENST00000252804.4	-	17	2813	c.2763T>A	c.(2761-2763)caT>caA	p.H921Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	921					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H921Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGGGCCTCATGCTCCGTGC	0.672000													9	38					0	0	0.000978	0	0
BCL9L	283149	broad.mit.edu	37	11	118779239	118779239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:118779239C>A	ENST00000334801.3	-	2	1116	c.152G>T	c.(151-153)gGg>gTg	p.G51V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	51					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.G51V(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCCGCCATTCCCTGTCTTGCC	0.642000													25	166					2.14196e-07	3.283e-07	0.007291	1	0
HCN4	10021	broad.mit.edu	37	15	73617680	73617680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:73617680C>A	ENST00000261917.3	-	5	2689	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	566					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.E566*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ATGCTCTCCTCGTCGAACATC	0.667000													18	77					6.49762e-13	1.10713e-12	0.006122	1	0
CCT2	10576	broad.mit.edu	37	12	69991418	69991418	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:69991418G>T	ENST00000543146.2	+	12	1444	c.961_splice	c.e12-1	p.G321_splice	CCT2_ENST00000544368.2_Splice_Site_p.G368_splice|CCT2_ENST00000299300.6_Splice_Site_p.G368_splice	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	368					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.G368V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTAATTTTAGGTGAGGCTTGT	0.393000													16	82					3.41278e-10	5.61099e-10	0.004990	1	0
IFI44	10561	broad.mit.edu	37	1	79128523	79128523	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:79128523T>A	ENST00000370747.4	+	8	1333	c.1248T>A	c.(1246-1248)gcT>gcA	p.A416A	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	416					response to virus	cytoplasm		p.A416A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGCTATGGGCTGCAGATGACT	0.458000													17	110					0	0	0.007413	0	0
KRT3	3850	broad.mit.edu	37	12	53189644	53189644	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:53189644G>C	ENST00000417996.2	-	1	257	c.183C>G	c.(181-183)ggC>ggG	p.G61G	KRT3_ENST00000309505.3_Silent_p.G61G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G61G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTTGTTGCCGCCCAGGTTGT	0.667000													13	105					0	0	0.001855	0	0
HDX	139324	broad.mit.edu	37	X	83599336	83599336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83599336C>T	ENST00000297977.5	-	6	1693	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	HDX_ENST00000506585.2_Missense_Mutation_p.E470K|HDX_ENST00000373177.2_Missense_Mutation_p.E528K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	528						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E528K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCCCAGCTTCCTCTCCTGGT	0.463000													4	95					0	0	0.000248	0	0
GABRG2	2566	broad.mit.edu	37	5	161524754	161524754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:161524754G>T	ENST00000356592.3	+	4	898	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GABRG2_ENST00000393933.4_Missense_Mutation_p.W51C|GABRG2_ENST00000414552.2_Missense_Mutation_p.W146C|GABRG2_ENST00000361925.4_Missense_Mutation_p.W146C	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	146					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.W146C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGAAAATCTGGATTCCAGACA	0.423000													19	68					3.57192e-18	6.56353e-18	0.006122	1	0
CTR9	9646	broad.mit.edu	37	11	10781721	10781721	+	Splice_Site	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:10781721G>A	ENST00000361367.2	+	6	1020	c.592_splice	c.e6-1	p.A198_splice		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	198					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		p.A198A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTTATAGCGGAAGTTCGTT	0.368000													5	65					0	0	0.000602	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306690	140306690	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140306690C>A	ENST00000253807.2	+	1	213	c.213C>A	c.(211-213)ccC>ccA	p.P71P	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P71P|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2												p.P71P(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATCTACCCAGCGGCAATT	0.637000													8	50					0.00307968	0.00392285	0.003080	1	0
RAB39B	116442	broad.mit.edu	37	X	154490325	154490325	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154490325G>A	ENST00000369454.3	-	2	705	c.405C>T	c.(403-405)cgC>cgT	p.R135R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.R135R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGCCTCGTGGCGAGTCACTT	0.493000													20	183					0	0	0.008871	0	0
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:33954863G>T	ENST00000389232.4	+	35	5202	c.5132G>T	c.(5131-5133)cGa>cTa	p.R1711L	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1711L(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)		GCCCACATCCGAGACCCTGTA	0.562000													9	55					0.00448238	0.00567653	0.004482	1	0
DCLK3	85443	broad.mit.edu	37	3	36779105	36779105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:36779105G>A	ENST00000416516.2	-	2	1536	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	349						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.A349V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACATTGGCGGCAATGATGCC	0.582000													4	97					0	0	0.000248	0	0
INPP4B	8821	broad.mit.edu	37	4	143045852	143045852	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:143045852C>T	ENST00000513000.1	-	20	2215	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	INPP4B_ENST00000262992.4_Silent_p.V594V|INPP4B_ENST00000508116.1_Silent_p.V594V|INPP4B_ENST00000308502.4_Silent_p.V594V|INPP4B_ENST00000509777.1_Silent_p.V594V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	594					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V594V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTCGGTTCACCACTTCTCCCA	0.517000													9	55					0	0	0.004482	0	0
LRRC2	79442	broad.mit.edu	37	3	46592962	46592962	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:46592962C>A	ENST00000395905.3	-	2	512	c.120G>T	c.(118-120)ttG>ttT	p.L40F	LRRC2_ENST00000296144.3_Missense_Mutation_p.L40F|LRRC2_ENST00000496388.1_Intron	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	40								p.L40F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CGTACTTCTCCAAGGCGCTCT	0.468000													6	95					3.59834e-05	4.94865e-05	0.001168	1	0
PRKD1	5587	broad.mit.edu	37	14	30066936	30066936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:30066936C>A	ENST00000331968.5	-	16	2424	c.2195G>T	c.(2194-2196)cGg>cTg	p.R732L	PRKD1_ENST00000415220.2_Missense_Mutation_p.R740L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	732	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R732L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCAATGATCCGGGCAAAACC	0.478000													11	55					2.31682e-05	3.23369e-05	0.003163	1	0
TRIO	7204	broad.mit.edu	37	5	14479403	14479403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:14479403C>T	ENST00000344204.4	+	42	6211	c.6187C>T	c.(6187-6189)Caa>Taa	p.Q2063*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.Q2063*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2063	DH 2.				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.Q2063*(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)					AGCTTATTGTCAAAATAAACC	0.343000													11	161					0	0	0.000978	0	0
TTLL10	254173	broad.mit.edu	37	1	1115671	1115671	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:1115671A>T	ENST00000379290.1	+	6	630	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	TTLL10_ENST00000379288.3_Missense_Mutation_p.T80S|TTLL10_ENST00000379289.1_Missense_Mutation_p.T153S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	153					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.T80S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCCACAGCACCCGGCCGGG	0.697000													3	7					0	0	0.004672	0	0
TLR4	7099	broad.mit.edu	37	9	120475379	120475379	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:120475379G>T	ENST00000355622.6	+	3	1074	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D285Y	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	325					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D325Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AAGGGTAAAAGACTTTTCTTA	0.313000													16	67					6.31663e-08	9.84253e-08	0.003163	1	0
CDH12	1010	broad.mit.edu	37	5	21975400	21975400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:21975400C>A	ENST00000382254.1	-	6	1412	c.326G>T	c.(325-327)gGg>gTg	p.G109V	CDH12_ENST00000522262.1_Missense_Mutation_p.G109V|CDH12_ENST00000504376.2_Missense_Mutation_p.G109V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	109	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G109V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGAATGTCCCCTGTGGTTTC	0.493000										HNSCC(59;0.17)			58	171					7.05995e-25	1.33853e-24	0.003610	1	0
MAP2	4133	broad.mit.edu	37	2	210560774	210560774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:210560774G>T	ENST00000360351.4	+	7	4386	c.3880G>T	c.(3880-3882)Gta>Tta	p.V1294L	MAP2_ENST00000447185.1_Missense_Mutation_p.V1290L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1294					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.V1294L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTCATCACTGTAGTGCAAAC	0.527000													24	103					9.95505e-16	1.75081e-15	0.002299	1	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604174	43604174	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:43604174G>C	ENST00000451025.2	+	3	409	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.E35Q	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	35	Interaction with MAD2L1.				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	p.E35Q(1)		breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAACTACTTGAGACAAGCTC	0.488000													4	68					0	0	0.000602	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643728	37643728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:37643728T>A	ENST00000356958.4	-	5	1331	c.1073A>T	c.(1072-1074)gAg>gTg	p.E358V	ZNF585A_ENST00000355533.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E303V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E303V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCCCACACTCAGTACATAT	0.408000													28	131					0	0	0.006320	0	0
MUC15	143662	broad.mit.edu	37	11	26582728	26582728	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:26582728C>G	ENST00000436318.2	-	4	1103	c.970G>C	c.(970-972)Ggg>Cgg	p.G324R	MUC15_ENST00000527569.1_Missense_Mutation_p.G274R|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G297R|MUC15_ENST00000281268.8_Missense_Mutation_p.G274R|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G324R			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane		p.G297R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGAATTCCCAAAACTCACA	0.378000													9	36					0	0	0.004482	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322790	17322790	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:17322790G>A	ENST00000452699.1	-	14	1486	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	ATP13A2_ENST00000341676.5_Missense_Mutation_p.L433F|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Missense_Mutation_p.L438F|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	438					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L438F(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)		ATGGTGCCGAGGAGAGCTGTG	0.657000													4	75					0	0	0.000602	0	0
OR2T4	127074	broad.mit.edu	37	1	248524995	248524995	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248524995A>G	ENST00000366475.1	+	1	113	c.113A>G	c.(112-114)cAc>cGc	p.H38R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H38R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ATGGCCAACCACACTGGATGG	0.488000													18	122					0	0	0.007413	0	0
TREM1	54210	broad.mit.edu	37	6	41250404	41250404	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:41250404T>C	ENST00000591620.1	-	2	161	c.135A>G	c.(133-135)ctA>ctG	p.L45L	TREM1_ENST00000589614.1_Silent_p.L45L|TREM1_ENST00000334475.6_Silent_p.L45L|TREM1_ENST00000244709.4_Silent_p.L45L	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	45	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	p.L45L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CAAACTTCTCTAGCGTGTAGT	0.478000													17	148					0	0	0.004990	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319979	83319979	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83319979C>A	ENST00000262752.2	-	21	2119	c.2112_splice	c.e21+1	p.K704_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.K704_splice	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	704					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K704N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTGTTTTACCTTAACAACAT	0.353000													11	147					0.00136819	0.0017773	0.001368	1	0
OR2M3	127062	broad.mit.edu	37	1	248366686	248366686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248366686C>A	ENST00000456743.1	+	1	355	c.317C>A	c.(316-318)tCa>tAa	p.S106*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S106*(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATACATCACTGCTTGGC	0.473000													65	506					1.31726e-23	2.476e-23	0.003610	1	0
EPB41L2	2037	broad.mit.edu	37	6	131277563	131277563	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:131277563A>G	ENST00000337057.3	-	2	244	c.63T>C	c.(61-63)gaT>gaC	p.D21D	EPB41L2_ENST00000525271.1_Silent_p.D21D|EPB41L2_ENST00000525193.1_Silent_p.D21D|EPB41L2_ENST00000392427.3_Silent_p.D21D|EPB41L2_ENST00000529208.1_Silent_p.D21D|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.D21D|EPB41L2_ENST00000445890.2_Silent_p.D21D|EPB41L2_ENST00000528282.1_Silent_p.D21D|EPB41L2_ENST00000527659.1_Silent_p.D21D|EPB41L2_ENST00000530481.1_Silent_p.D21D|EPB41L2_ENST00000527411.1_Silent_p.D21D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	21					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.D21D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGTTGCATCTGTTCCTA	0.438000													5	76					0	0	0.000602	0	0
GABRB2	2561	broad.mit.edu	37	5	160763718	160763718	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:160763718T>A	ENST00000274547.2	-	7	817	c.600A>T	c.(598-600)acA>acT	p.T200T	GABRB2_ENST00000520240.1_Silent_p.T200T|GABRB2_ENST00000517901.1_Silent_p.T137T|GABRB2_ENST00000517547.1_Silent_p.T40T|GABRB2_ENST00000393959.1_Silent_p.T200T|GABRB2_ENST00000353437.6_Silent_p.T200T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	200					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.T200T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCGTTACTCCTGTTACTGCAT	0.373000													19	89					0	0	0.006122	0	0
KLHL6	89857	broad.mit.edu	37	3	183211915	183211915	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:183211915T>A	ENST00000341319.3	-	5	1337	c.1302A>T	c.(1300-1302)agA>agT	p.R434S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	434								p.R434S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CATTGTTGATTCTCTGTAAGC	0.463000													25	215					0	0	0.005443	0	0
CTCFL	140690	broad.mit.edu	37	20	56093924	56093924	+	Missense_Mutation	SNP	C	C	T	rs143392924		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:56093924C>T	ENST00000426658.2	-	4	1610	c.949G>A	c.(949-951)Gac>Aac	p.D317N	CTCFL_ENST00000502686.2_Missense_Mutation_p.D55N|CTCFL_ENST00000433949.2_Missense_Mutation_p.D317N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D317N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D317N|CTCFL_ENST00000429804.2_Missense_Mutation_p.D317N|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422109.2_Missense_Mutation_p.D317N|CTCFL_ENST00000539382.1_Missense_Mutation_p.D112N|CTCFL_ENST00000371196.2_Missense_Mutation_p.D317N			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	317					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.D317N(3)		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)			ATGTTGCAGTCGTTACACTTG	0.398000													23	67					0	0	0.002780	0	0
DDX46	9879	broad.mit.edu	37	5	134147433	134147433	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:134147433C>T	ENST00000452510.2	+	18	2492	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	DDX46_ENST00000354283.4_Silent_p.F778F	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	778					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	p.F778F(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAAGGGATTCAAGTTTGATG	0.353000													10	117					0	0	0.006214	0	0
UBC	7316	broad.mit.edu	37	12	125397469	125397469	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:125397469G>A	ENST00000536769.1	-	1	2425	c.849C>T	c.(847-849)acC>acT	p.T283T	UBC_ENST00000546120.1_Silent_p.T207T|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.T283T			P0CG48	UBC_HUMAN	ubiquitin C	283	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.T283T(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGTCAGACAGGGTGCGCCCAT	0.527000													10	182					0	0	0.003163	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764239	92764239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:92764239G>A	ENST00000318238.4	-	5	2262	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S349F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S349F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	349								p.S349F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCCCTAGAGCTAGCCCC	0.348000													6	211					0	0	0.001168	0	0
F8	2157	broad.mit.edu	37	X	154157435	154157435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154157435G>T	ENST00000360256.4	-	14	4830	c.4630C>A	c.(4630-4632)Ctt>Att	p.L1544I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1544	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.L1544I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCTGAAGAAGGCTCCCTTCC	0.468000													18	221					5.35267e-07	8.07207e-07	0.007413	1	0
LRRC16A	55604	broad.mit.edu	37	6	25600607	25600607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:25600607G>T	ENST00000329474.6	+	33	3553	c.3185G>T	c.(3184-3186)cGa>cTa	p.R1062L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1062	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		p.R1062L(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGAAAAAGCGAGATTCTCGG	0.438000													17	85					2.48551e-13	4.25716e-13	0.004990	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885671	88885671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:88885671G>T	ENST00000319675.3	-	1	625	c.529C>A	c.(529-531)Ctt>Att	p.L177I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	177								p.L177I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAACTGCAAAGCATGCCAGGC	0.572000													11	117					0.00010058	0.000135483	0.001368	1	0
GPR148	344561	broad.mit.edu	37	2	131486884	131486884	+	Missense_Mutation	SNP	C	C	T	rs142929079		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:131486884C>T	ENST00000309926.4	+	1	242	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	54				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L54F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTGGCTTTTCCTTCCCTCAAG	0.632000													3	50					0	0	0.004672	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896287	151896287	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:151896287G>T	ENST00000361201.4	-	0	443					NR_073432.1													p.S42Y(1)		endometrium(2)|kidney(2)|lung(1)	5						CTTTTAGGGAGAGCCTTTTGT	0.507000													16	155					0.000308642	0.000409029	0.003163	1	0
FAIM3	9214	broad.mit.edu	37	1	207087253	207087253	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:207087253C>T	ENST00000367091.3	-	2	367	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.R75Q|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	75	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane		p.R75Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CAGAGTAACTCGGCCCTTGTA	0.517000													15	223					0	0	0.004007	0	0
LPXN	9404	broad.mit.edu	37	11	58318700	58318700	+	Silent	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:58318700T>G	ENST00000528954.1	-	5	458	c.339A>C	c.(337-339)gcA>gcC	p.A113A	LPXN_ENST00000395074.2_Silent_p.A108A|LPXN_ENST00000528489.1_Silent_p.A88A	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	108					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	p.A113A(1)|p.A108A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCTCTCACTGCAACCTGGC	0.483000													4	23					0	0	0.000248	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970755	47970755	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:47970755C>A	ENST00000289672.2	-	6	733	c.683G>T	c.(682-684)aGc>aTc	p.S228I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	228					cell-cell adhesion	integral to membrane		p.S228I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCGCTGGGAGCTGGTCTGAGT	0.612000													9	50					0.00448238	0.00567653	0.004482	1	0
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:39923699C>A	ENST00000342274.4	-	7	3754	c.3392G>T	c.(3391-3393)cGg>cTg	p.R1131L	BCOR_ENST00000378463.1_Missense_Mutation_p.R8L|BCOR_ENST00000378455.4_Missense_Mutation_p.R1113L|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131L|BCOR_ENST00000378444.4_Missense_Mutation_p.R1131L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	51					2.0095e-06	2.91644e-06	0.001984	1	0
LANCL2	55915	broad.mit.edu	37	7	55496113	55496113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:55496113C>G	ENST00000254770.2	+	8	1809	c.1231C>G	c.(1231-1233)Cct>Gct	p.P411A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	411					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.P411A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGCCGCATTCCTGACAGACC	0.443000													11	56					0	0	0.001368	0	0
CHD8	57680	broad.mit.edu	37	14	21863152	21863152	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:21863152G>A	ENST00000399982.2	-	29	5373	c.5309C>T	c.(5308-5310)gCa>gTa	p.A1770V	CHD8_ENST00000557364.1_Missense_Mutation_p.A1770V|CHD8_ENST00000430710.3_Missense_Mutation_p.A1491V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1770					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.A1770V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACGTTCTGCAGCCTCTAT	0.527000													18	63					0	0	0.008871	0	0
IRAK1	3654	broad.mit.edu	37	X	153284753	153284753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:153284753G>A	ENST00000369980.3	-	3	498	c.331C>T	c.(331-333)Cca>Tca	p.P111S	IRAK1_ENST00000393682.1_Missense_Mutation_p.P137S|IRAK1_ENST00000429936.2_Missense_Mutation_p.P137S|IRAK1_ENST00000393687.2_Missense_Mutation_p.P111S|IRAK1_ENST00000369974.2_Missense_Mutation_p.P111S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	111	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	p.P111S(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTGCCTGGGGACGGAAGC	0.736000													3	36					0	0	0.004672	0	0
ATP2B4	493	broad.mit.edu	37	1	203652479	203652479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:203652479G>T	ENST00000357681.5	+	2	1269	c.146G>T	c.(145-147)gGa>gTa	p.G49V	ATP2B4_ENST00000367219.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G49V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G49V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	49					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G49V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCACTATGGAGGTGTACAG	0.512000													18	132					2.48551e-13	4.25716e-13	0.004990	1	0
SPTBN5	51332	broad.mit.edu	37	15	42166580	42166580	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:42166580G>A	ENST00000320955.6	-	24	4826	c.4599C>T	c.(4597-4599)ctC>ctT	p.L1533L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1533					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.L1533L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTACCCAAGAGAGCTCCATGT	0.617000													18	56					0	0	0.004990	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406464	20406464	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:20406464G>T	ENST00000580113.1	-	0	602																											GTCAGTCCTGGCCAGGGTCAG	0.632000													9	35					2.17888e-05	3.04764e-05	0.006214	1	0
ZDBF2	57683	broad.mit.edu	37	2	207169464	207169464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:207169464T>C	ENST00000374423.3	+	5	598	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	71							nucleic acid binding|zinc ion binding	p.V71A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGACACATGTGAATACTGGG	0.373000													6	57					0	0	0.001168	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370104	20370104	+	RNA	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:20370104A>G	ENST00000593655.1	-	0	199																											AGCACATGGTATTCTTGGGTG	0.413000													10	40					0	0	0.000978	0	0
SPRED2	200734	broad.mit.edu	37	2	65561881	65561881	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:65561881C>A	ENST00000356388.4	-	3	420	c.231G>T	c.(229-231)aaG>aaT	p.K77N	SPRED2_ENST00000443619.2_Missense_Mutation_p.K74N|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	77	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.K77N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AGACCAAGTCCTTTCTTACAT	0.448000													27	145					1.88708e-17	3.41969e-17	0.008361	1	0
ZPBP	11055	broad.mit.edu	37	7	50070835	50070835	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:50070835T>A	ENST00000046087.2	-	5	628	c.559A>T	c.(559-561)Aat>Tat	p.N187Y	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.N186Y	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	187					binding of sperm to zona pellucida	extracellular region		p.N187Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAAGAAATATTATAAATGCTA	0.343000													10	73					0	0	0.000978	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918992	12918992	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:12918992C>A	ENST00000240189.2	+	2	215	c.128C>A	c.(127-129)gCc>gAc	p.A43D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	43								p.A43D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGGGAGGCCTTCAGCAGG	0.607000													31	166					1.88708e-17	3.41969e-17	0.008361	1	0
CDH9	1007	broad.mit.edu	37	5	26902655	26902655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26902655C>A	ENST00000231021.4	-	7	1355	c.1183G>T	c.(1183-1185)Gat>Tat	p.D395Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	395	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D395Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCTTTACATCTTCATCTACT	0.368000													62	93					4.96213e-28	9.46267e-28	0.003610	1	0
IFT140	9742	broad.mit.edu	37	16	1621515	1621515	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:1621515G>A	ENST00000426508.2	-	14	1908	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	515								p.L515L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGAGAAAAGGAGGAGTTGTT	0.418000													6	35					0	0	0.001984	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866246	140866246	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140866246A>G	ENST00000306593.1	+	1	1506	c.1506A>G	c.(1504-1506)gtA>gtG	p.V502V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.V502V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGATGTATCAGCTTCCT	0.537000													35	173					0	0	0.002836	0	0
STAB1	23166	broad.mit.edu	37	3	52550187	52550187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:52550187C>A	ENST00000321725.6	+	38	4153	c.4077C>A	c.(4075-4077)caC>caA	p.H1359Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1359	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.H1359Q(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCACTGCCACGAGGGCTTCC	0.701000													7	38					5.18039e-06	7.40378e-06	0.003080	1	0
ACRBP	84519	broad.mit.edu	37	12	6749349	6749349	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:6749349G>A	ENST00000229243.2	-	8	1395	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	ACRBP_ENST00000414226.2_Silent_p.Y401Y|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	434						acrosomal vesicle|extracellular region		p.Y434Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGAGCCCACCGTACAAATCCA	0.607000													7	54					0	0	0.004482	0	0
C6orf10	10665	broad.mit.edu	37	6	32261492	32261492	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:32261492C>T	ENST00000375015.4	-	26	1155	c.955G>A	c.(955-957)Gga>Aga	p.G319R	C6orf10_ENST00000533191.1_Missense_Mutation_p.G318R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G311R|C6orf10_ENST00000447241.2_Missense_Mutation_p.G320R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G318R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G304R			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	320						integral to membrane		p.G320R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATTTGGGCTCCCTGTCCTTGT	0.443000													39	202					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179560074	179560074	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:179560074C>A	ENST00000589042.1	-	115	31495		c.e115+1		TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(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)			TAATTACTTACCTTTAGGAGG	0.358000													7	99					0.00198382	0.00254177	0.001984	1	0
GPR112	139378	broad.mit.edu	37	X	135427235	135427235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:135427235C>A	ENST00000394143.1	+	6	1661	c.1370C>A	c.(1369-1371)gCa>gAa	p.A457E	GPR112_ENST00000287534.4_Missense_Mutation_p.A394E|GPR112_ENST00000412101.1_Missense_Mutation_p.A252E|GPR112_ENST00000394141.1_Missense_Mutation_p.A252E|GPR112_ENST00000370652.1_Missense_Mutation_p.A457E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	457					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A457E(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCACCTGCATCTACTCAT	0.493000													13	115					2.27111e-07	3.45672e-07	0.001368	1	0
MYO1H	283446	broad.mit.edu	37	12	109843787	109843787	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:109843787G>A	ENST00000310903.5	+	8	968	c.862G>A	c.(862-864)Gac>Aac	p.D288N	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.D288N			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.D288N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAAGAAGACGACCAAGGCTG	0.498000													11	43					0	0	0.000978	0	0
TMEM126B	55863	broad.mit.edu	37	11	85345207	85345207	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:85345207G>C	ENST00000534341.1	+	3	287	c.281G>C	c.(280-282)aGa>aCa	p.R94T	TMEM126B_ENST00000393375.1_Missense_Mutation_p.R64T|TMEM126B_ENST00000358867.6_Missense_Mutation_p.R94T			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	94						integral to membrane		p.R64T(1)		kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTCCTGTTCAGACGCTGCTTC	0.343000													8	102					0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032087	10032087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:10032087G>T	ENST00000396573.2	-	4	1045	c.736C>A	c.(736-738)Ctt>Att	p.L246I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.L246I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L89I|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L246I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	246					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L246I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGGCCAAGGGAGCGGGCC	0.507000													12	78					3.07112e-06	4.40843e-06	0.000978	1	0
WNK3	65267	broad.mit.edu	37	X	54264888	54264888	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:54264888T>C	ENST00000354646.2	-	19	4339	c.3901A>G	c.(3901-3903)Aga>Gga	p.R1301G	WNK3_ENST00000375169.3_Missense_Mutation_p.R1254G|WNK3_ENST00000375159.2_Missense_Mutation_p.R1301G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1254					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R1301G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTGCTGATCTCATCTCTTCT	0.378000													10	36					0	0	0.006214	0	0
ITM2B	9445	broad.mit.edu	37	13	48828025	48828025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:48828025G>T	ENST00000378565.5	+	2	402	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C	ITM2B_ENST00000378549.5_Missense_Mutation_p.G67C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	67					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.G67C(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TATGCTTGCAGGTGTTATTCT	0.378000													14	61					4.14922e-12	6.9792e-12	0.004007	1	0
MTR	4548	broad.mit.edu	37	1	236995357	236995357	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:236995357C>A	ENST00000366577.5	+	13	1561	c.1167C>A	c.(1165-1167)ctC>ctA	p.L389L	MTR_ENST00000535889.1_Silent_p.L389L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	389	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGCTAAACTCATCATGGCAG	0.453000													19	58					3.51602e-12	5.92932e-12	0.008871	1	0
CD5	921	broad.mit.edu	37	11	60885907	60885907	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:60885907C>T	ENST00000347785.3	+	3	521	c.355C>T	c.(355-357)Cac>Tac	p.H119Y		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	119	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.H119Y(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAACTGCAGCCACAGCAGAAA	0.602000													6	136					0	0	0.001168	0	0
GALNT10	55568	broad.mit.edu	37	5	153783750	153783750	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:153783750G>T	ENST00000297107.6	+	8	1280	c.1143G>T	c.(1141-1143)ccG>ccT	p.P381P	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377657.3_Silent_p.P52P|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Silent_p.P319P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	381	Flexible loop.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P381P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ACAAGGTCCCGGCCGGAGTCA	0.627000													11	43					6.40141e-05	8.69426e-05	0.000978	1	0
RANBP2	5903	broad.mit.edu	37	2	109374925	109374925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:109374925G>T	ENST00000283195.6	+	18	2649	c.2523G>T	c.(2521-2523)tgG>tgT	p.W841C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	841					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.W841C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCATCGTTGGCCCACAGAGA	0.398000													46	333					7.05121e-23	1.3216e-22	0.002522	1	0
COL5A2	1290	broad.mit.edu	37	2	189929292	189929292	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:189929292T>A	ENST00000374866.3	-	25	1981	c.1707A>T	c.(1705-1707)ccA>ccT	p.P569P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	569					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P569P(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)			CCCGAGCACCTGGAAGCCCAG	0.512000													10	59					0	0	0.008291	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890614	2890614	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:2890614G>A	ENST00000380698.4	-	7	1003	c.914C>T	c.(913-915)gCg>gTg	p.A305V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	305					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.A305V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTCTCTCTCCGCTGACATTGC	0.498000													16	103					0	0	0.003163	0	0
MAP9	79884	broad.mit.edu	37	4	156273864	156273864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:156273864C>G	ENST00000311277.4	-	13	1968	c.1705G>C	c.(1705-1707)Gct>Cct	p.A569P	MAP9_ENST00000515654.1_Missense_Mutation_p.A545P|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000597939.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	569					cell division|mitosis	cytoplasm|microtubule|spindle		p.A569P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTGAAAAAAGCTTCCTTTTTT	0.279000													8	40					0	0	0.003080	0	0
CD86	942	broad.mit.edu	37	3	121825068	121825068	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:121825068G>A	ENST00000330540.2	+	4	540	c.424G>A	c.(424-426)Gta>Ata	p.V142I	CD86_ENST00000393627.2_Missense_Mutation_p.V136I|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.V60I|CD86_ENST00000493101.1_Missense_Mutation_p.V30I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	142					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.V142I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACCTGAAATAGTACCAATTTC	0.338000													8	33					0	0	0.003080	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049802	42049802	+	Missense_Mutation	SNP	C	C	A	rs147878871		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:42049802C>A	ENST00000372584.1	-	3	1681	c.667G>T	c.(667-669)Ggc>Tgc	p.G223C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G223C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G223C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G223C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	223	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G223C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACAGGGGCCGCAGGGGTAG	0.602000													7	55					5.18039e-06	7.40378e-06	0.003080	1	0
TNIK	23043	broad.mit.edu	37	3	170819320	170819320	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:170819320C>T	ENST00000436636.2	-	22	2853	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	TNIK_ENST00000538048.1_Missense_Mutation_p.E789K|TNIK_ENST00000488470.1_Missense_Mutation_p.E782K|TNIK_ENST00000369326.5_Missense_Mutation_p.E815K|TNIK_ENST00000460047.1_Missense_Mutation_p.E774K|TNIK_ENST00000470834.1_Missense_Mutation_p.E800K|TNIK_ENST00000357327.5_Missense_Mutation_p.E808K|TNIK_ENST00000475336.1_Missense_Mutation_p.E745K|TNIK_ENST00000284483.8_Missense_Mutation_p.E829K|TNIK_ENST00000341852.6_Missense_Mutation_p.E753K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	837	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E837K(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCGCTACTTTCTGACTCCTCA	0.483000													29	295					0	0	0.006320	0	0
MIEF2	125170	broad.mit.edu	37	17	18167939	18167939	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:18167939T>G	ENST00000323019.4	+	4	1437	c.1226T>G	c.(1225-1227)aTc>aGc	p.I409S	SMCR7_ENST00000395706.2_Missense_Mutation_p.I420S|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		409						integral to membrane	protein binding	p.I409S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GAGCTGCTCATCGGCAGCCTG	0.632000													11	57					0	0	0.008291	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416469	69416469	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:69416469G>T	ENST00000317746.2	-	5	1281	c.1239C>A	c.(1237-1239)gcC>gcA	p.A413A		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	413					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A413A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CCACACTGAGGGCTGCTCCCT	0.453000													45	199					7.88023e-25	1.48975e-24	0.003610	1	0
C8orf74	203076	broad.mit.edu	37	8	10555137	10555137	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:10555137C>A	ENST00000304519.5	+	3	299	c.270C>A	c.(268-270)atC>atA	p.I90I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	90								p.I90I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CTGTGACGATCCTGGGGAACA	0.582000													12	97					2.80697e-09	4.53541e-09	0.000978	1	0
RYR2	6262	broad.mit.edu	37	1	237551419	237551419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:237551419C>G	ENST00000366574.2	+	10	1026	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	RYR2_ENST00000360064.6_Missense_Mutation_p.L235V|RYR2_ENST00000542537.1_Missense_Mutation_p.L221V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	237	MIR 3.				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.L235V(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)			CCTCAGGTTGCTGCATGGACA	0.488000													6	34					0	0	0.003080	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802546	185802546	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:185802546C>T	ENST00000302277.6	+	4	3017	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	808						intracellular	zinc ion binding	p.P808L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCTGCAAGCCTAAAAAGAAA	0.388000													15	97					0	0	0.004007	0	0
OR2D3	120775	broad.mit.edu	37	11	6942680	6942680	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:6942680A>G	ENST00000317834.3	+	1	476	c.448A>G	c.(448-450)Acc>Gcc	p.T150A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T150A(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTACTACTCTACCATCATGAC	0.512000													29	114					0	0	0.006320	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107277	27107277	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:27107277G>A	ENST00000354348.2	+	1	202	c.190G>A	c.(190-192)Gag>Aag	p.E64K	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E64K(1)		lung(1)	1						GGTGTTCCTGGAGAACGTGAT	0.652000			T	BCL6	NHL								17	57					0	0	0.004007	0	0
POMC	5443	broad.mit.edu	37	2	25384028	25384028	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:25384028G>T	ENST00000405623.1	-	3	1181	c.726C>A	c.(724-726)acC>acA	p.T242T	POMC_ENST00000395826.2_Silent_p.T242T|POMC_ENST00000264708.3_Silent_p.T242T|POMC_ENST00000380794.1_Silent_p.T242T			P01189	COLI_HUMAN	proopiomelanocortin	242					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.T242T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TCTTCTCGGAGGTCATGAAAC	0.642000													9	45					1.58986e-06	2.33322e-06	0.008291	1	0
FTH1P10	2502	broad.mit.edu	37	5	17354001	17354001	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:17354001T>A	ENST00000401830.3	-	0	732					NR_002201.1																						ATTATCACTGTCTCCCAGGGT	0.512000													6	103					0	0	0.001168	0	0
DDX3X	1654	broad.mit.edu	37	X	41196688	41196688	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:41196688G>A	ENST00000399959.2	+	2	928	c.73G>A	c.(73-75)Gat>Aat	p.D25N	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.D25N|DDX3X_ENST00000457138.2_Missense_Mutation_p.D25N|DDX3X_ENST00000542215.1_Missense_Mutation_p.D69N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	25					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.D25N(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAACTCTTCAGATAATCAGAG	0.408000										HNSCC(61;0.18)			7	116					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9073651	9073651	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9073651G>T	ENST00000397910.4	-	3	13998	c.13795C>A	c.(13795-13797)Ctg>Atg	p.L4599M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4601	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L4599M(2)|p.L232M(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						CCAGCAGTCAGGGAGGATGTT	0.502000													9	56					1.76689e-08	2.79972e-08	0.006214	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011541	105011541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:105011541A>T	ENST00000372582.1	+	11	2704	c.1948A>T	c.(1948-1950)Aac>Tac	p.N650Y	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N650Y|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.N255Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	650					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.N650Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GACGCTACTCAACGGACAGCT	0.463000													32	128					0	0	0.001786	0	0
MCMBP	79892	broad.mit.edu	37	10	121595096	121595096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:121595096G>C	ENST00000360003.3	-	14	1838	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.L555V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	557					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.L557V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AATCTCAAAAGAGTTAGATAA	0.413000													10	77					0	0	0.006214	0	0
GPR64	10149	broad.mit.edu	37	X	19020988	19020988	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:19020988G>T	ENST00000354791.3	-	23	2399	c.2158C>A	c.(2158-2160)Ctt>Att	p.L720I	GPR64_ENST00000379869.3_Missense_Mutation_p.L736I|GPR64_ENST00000357544.3_Missense_Mutation_p.L706I|GPR64_ENST00000356606.4_Missense_Mutation_p.L722I|GPR64_ENST00000340581.3_Missense_Mutation_p.L617I|GPR64_ENST00000379876.1_Missense_Mutation_p.L712I|GPR64_ENST00000379878.3_Missense_Mutation_p.L720I|GPR64_ENST00000357991.3_Missense_Mutation_p.L733I|GPR64_ENST00000379873.2_Missense_Mutation_p.L736I|GPR64_ENST00000360279.4_Missense_Mutation_p.L714I			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	736					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.L733I(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAGAATTTAAGGATGTATTTT	0.408000													11	132					6.40141e-05	8.69426e-05	0.000978	1	0
C5orf42	65250	broad.mit.edu	37	5	37201763	37201763	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:37201763C>T	ENST00000274258.7	-	19	3667	c.80G>A	c.(79-81)gGc>gAc	p.G27D	C5orf42_ENST00000425232.2_Missense_Mutation_p.G1146D|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1146D			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1146								p.G27D(1)|p.G1146D(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGCACTAAGCCCCACAGTCT	0.418000													8	203					0	0	0.004482	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965188	1965188	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:1965188T>A	ENST00000382722.5	-	22	2504	c.2142A>T	c.(2140-2142)ccA>ccT	p.P714P	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585708.1_Silent_p.P650P|CACNA2D4_ENST00000588077.1_Silent_p.P650P|CACNA2D4_ENST00000585732.1_Silent_p.P575P|CACNA2D4_ENST00000586184.1_Silent_p.P714P|CACNA2D4_ENST00000587995.1_Silent_p.P689P	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	714						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P714P(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACTCCAGGTCTGGGTCCTTCC	0.592000													10	43					0	0	0.008291	0	0
ANKRD36	375248	broad.mit.edu	37	2	97860624	97860624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:97860624G>A	ENST00000420699.2	+	40	2765	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	ANKRD36_ENST00000461153.2_Missense_Mutation_p.G841R	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	841								p.G841R(1)|p.G773R(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATAACCAGAGGAAAAAAGGA	0.338000													3	14					0	0	0.004672	0	0
RAD51C	5889	broad.mit.edu	37	17	56780677	56780677	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:56780677C>T	ENST00000337432.4	+	4	763	c.692C>T	c.(691-693)tCa>tTa	p.S231L	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.S231L	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	231					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.S231L(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATTTCCTTTCAGAACACTCA	0.333000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				10	118					0	0	0.001855	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100559806	100559806	+	RNA	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:100559806C>A	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GCTATTCCAACTGCAGTGCAC	0.552000													12	72					7.93312e-07	1.17475e-06	0.002450	1	0
DGKB	1607	broad.mit.edu	37	7	14217662	14217662	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:14217662A>C	ENST00000403951.2	-	24	2659	c.2240T>G	c.(2239-2241)gTc>gGc	p.V747G	DGKB_ENST00000402815.1_Missense_Mutation_p.V746G|DGKB_ENST00000399322.3_Missense_Mutation_p.V747G|DGKB_ENST00000258767.5_Missense_Mutation_p.V747G|DGKB_ENST00000444700.2_Missense_Mutation_p.V728G|DGKB_ENST00000407950.1_Missense_Mutation_p.V739G|DGKB_ENST00000406247.3_Missense_Mutation_p.V747G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	747					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.V747G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTACCTGATGACCACGCAGGA	0.498000													12	76					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237806644	237806644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:237806644G>T	ENST00000366574.2	+	48	7556	c.7239G>T	c.(7237-7239)aaG>aaT	p.K2413N	RYR2_ENST00000360064.6_Missense_Mutation_p.K2411N|RYR2_ENST00000542537.1_Missense_Mutation_p.K2397N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2413	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.K2411N(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCGGGAAGGGAGAAGCCA	0.413000													51	156					1.39843e-22	2.61359e-22	0.003610	1	0
MAU2	23383	broad.mit.edu	37	19	19454666	19454666	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19454666C>T	ENST00000392313.5	+	10	1040	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	MAU2_ENST00000262815.8_Silent_p.L332L|MAU2_ENST00000585823.2_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	332					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	p.L332L(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCCCCATCCTGTCATCCTT	0.637000													18	111					0	0	0.006122	0	0
RLF	6018	broad.mit.edu	37	1	40706012	40706012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:40706012C>T	ENST00000372771.4	+	8	5665	c.5638C>T	c.(5638-5640)Cat>Tat	p.H1880Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1880					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.H1880Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAACAGCTTCATTATCTTCG	0.393000													10	84					0	0	0.006214	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933508	31933508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:31933508C>A	ENST00000334849.2	-	1	125	c.101G>T	c.(100-102)aGa>aTa	p.R34I		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	34						intermediate filament		p.R34I(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATAGCCCAGTCTGCGGAAGCT	0.537000													26	131					2.41591e-17	4.35395e-17	0.004656	1	0
MYH7	4625	broad.mit.edu	37	14	23893993	23893993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:23893993C>A	ENST00000355349.3	-	22	2826	c.2664G>T	c.(2662-2664)caG>caT	p.Q888H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	888					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q888H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCACTTGGAGCTGCAGGTCAT	0.607000													7	48					0.00198382	0.00254177	0.001984	1	0
ZNF606	80095	broad.mit.edu	37	19	58490898	58490898	+	Missense_Mutation	SNP	C	C	T	rs142065196	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:58490898C>T	ENST00000341164.4	-	7	1770	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	ZNF606_ENST00000536132.1_Missense_Mutation_p.D294N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D384N(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGGAAAGAGTCATACCCAAAG	0.363000													19	96					0	0	0.007413	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785371	178785371	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:178785371C>A	ENST00000311417.2	-	2	911	c.170G>T	c.(169-171)gGg>gTg	p.G57V	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G57V	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	57					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	p.G57V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTCTTGCTCCCCTCCCTTCGA	0.547000													29	116					4.87955e-14	8.49068e-14	0.005443	1	0
ZNF610	162963	broad.mit.edu	37	19	52868949	52868949	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:52868949A>T	ENST00000601151.1	+	5	642		c.e5-1		ZNF610_ENST00000403906.3_Splice_Site|ZNF610_ENST00000321287.8_Splice_Site|ZNF610_ENST00000327920.8_Splice_Site	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CTTCTTTTCTAGGGAGGAGCT	0.448000													20	118					0	0	0.001882	0	0
MED12	9968	broad.mit.edu	37	X	70356805	70356805	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:70356805C>T	ENST00000333646.6	+	38	5676	c.5477C>T	c.(5476-5478)cCt>cTt	p.P1826L	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.P1826L|MED12_ENST00000374080.3_Missense_Mutation_p.P1826L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1826	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1826L(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACCCAAACCCTGGTTCTATA	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	30					0	0	0.000248	0	0
TNR	7143	broad.mit.edu	37	1	175375383	175375383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:175375383G>T	ENST00000367674.1	-	3	1176	c.468C>A	c.(466-468)aaC>aaA	p.N156K	TNR_ENST00000263525.2_Missense_Mutation_p.N156K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	156	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.N156K(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)					AGCAGTTGGCGTTGCACTGGT	0.627000													17	81					0.000958276	0.00125475	0.007413	1	0
RICTOR	253260	broad.mit.edu	37	5	38959970	38959970	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:38959970G>A	ENST00000357387.3	-	21	1992	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	RICTOR_ENST00000296782.5_Silent_p.T654T	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	654					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.T654T(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)					GTTGACTAAGGGTGGTCAATA	0.378000													18	201					0	0	0.007413	0	0
AK5	26289	broad.mit.edu	37	1	77763337	77763337	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:77763337A>T	ENST00000344720.5	+	4	1457	c.431A>T	c.(430-432)aAg>aTg	p.K144M	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.K170M	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	170					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.K170M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTAAGAAAGAAGATCCACAGT	0.388000													17	67					0	0	0.004007	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039543	153039543	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:153039543T>A	ENST00000538966.1	+	21	3849	c.3578T>A	c.(3577-3579)cTg>cAg	p.L1193Q	PLXNB3_ENST00000361971.5_Missense_Mutation_p.L1170Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L780Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L823Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1170	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.L1170Q(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCATGTCCTGGATGTGGAG	0.711000													3	16					0	0	0.004672	0	0
ODAM	54959	broad.mit.edu	37	4	71062448	71062448	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:71062448G>A	ENST00000396094.2	+	2	139	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323000													4	36					0	0	0.000602	0	0
KRT84	3890	broad.mit.edu	37	12	52774887	52774887	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:52774887C>G	ENST00000257951.3	-	6	1246	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	394	Coil 2.|Rod.					keratin filament	structural constituent of epidermis	p.E394Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCAATCTCTGCCTTAAGC	0.552000													25	205					0	0	0.005443	0	0
IQSEC3	440073	broad.mit.edu	37	12	176538	176538	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:176538G>A	ENST00000538872.1	+	1	608	c.490G>A	c.(490-492)Gga>Aga	p.G164R	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G164R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	164					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.G164R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCTGCTGCCGGAGCCCTCCT	0.657000													4	18					0	0	0.000248	0	0
SPAG7	9552	broad.mit.edu	37	17	4863187	4863187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:4863187C>T	ENST00000573366.1	-	6	1147	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SPAG7_ENST00000575142.1_Missense_Mutation_p.E137K|SPAG7_ENST00000206020.3_Missense_Mutation_p.E148K			O75391	SPAG7_HUMAN	sperm associated antigen 7	148	R3H.					nucleus	nucleic acid binding|protein binding	p.E148K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGGGCTGCCTCCTCCTCTTGC	0.662000													11	60					0	0	0.000978	0	0
ADCY2	108	broad.mit.edu	37	5	7789797	7789797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:7789797T>A	ENST00000338316.4	+	20	2601	c.2512T>A	c.(2512-2514)Ttc>Atc	p.F838I	ADCY2_ENST00000537121.1_Missense_Mutation_p.F658I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	838					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.F838I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAGAACAAATTCAAAAAAGA	0.483000													8	275					0	0	0.006214	0	0
FYB	2533	broad.mit.edu	37	5	39202316	39202316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:39202316G>T	ENST00000351578.6	-	2	937	c.747C>A	c.(745-747)gaC>gaA	p.D249E	FYB_ENST00000515010.1_Missense_Mutation_p.D249E|FYB_ENST00000512982.1_Missense_Mutation_p.D249E|FYB_ENST00000540520.1_Missense_Mutation_p.D259E|FYB_ENST00000505428.1_Missense_Mutation_p.D249E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	249					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.D249E(3)|p.D259E(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCCTGCATGGTCTTTATTTT	0.493000													30	301					3.1745e-13	5.4231e-13	0.008361	1	0
ZNF492	57615	broad.mit.edu	37	19	22847415	22847415	+	Missense_Mutation	SNP	G	G	T	rs74170725		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:22847415G>T	ENST00000456783.2	+	4	1188	c.944G>T	c.(943-945)gGt>gTt	p.G315V		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G315F(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)				GAAGAATGTGGTAAGGCCTTT	0.378000													11	52					4.68919e-08	7.34155e-08	0.008291	1	0
SATB2	23314	broad.mit.edu	37	2	200246493	200246493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:200246493C>A	ENST00000443023.1	-	3	1685	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SATB2_ENST00000457245.1_Missense_Mutation_p.D133Y|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.D133Y|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000417098.1_Missense_Mutation_p.D133Y			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	133						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.D133Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCGGGTGCATCTGTCACATAA	0.433000													5	65					1.23904e-05	1.74049e-05	0.000602	1	0
SLC17A3	10786	broad.mit.edu	37	6	25862059	25862059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:25862059G>T	ENST00000397060.4	-	4	611	c.502C>A	c.(502-504)Ctc>Atc	p.L168I	SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	319					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.L168I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTACAATGAGCAAGACTATT	0.413000													5	45					0.000602214	0.000791689	0.000602	1	0
METTL14	57721	broad.mit.edu	37	4	119631390	119631390	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:119631390G>A	ENST00000388822.4	+	11	1471	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	METTL14_ENST00000506780.1_Missense_Mutation_p.R397Q			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	435	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R435Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TCTAACTTCCGAGGAGAAAGA	0.517000													4	53					0	0	0.000602	0	0
SMAD2	4087	broad.mit.edu	37	18	45371730	45371730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:45371730C>A	ENST00000402690.2	-	10	1655	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	SMAD2_ENST00000356825.4_Missense_Mutation_p.G391W|SMAD2_ENST00000262160.6_Missense_Mutation_p.G421W|SMAD2_ENST00000591214.1_Missense_Mutation_p.G391W|SMAD2_ENST00000586040.1_Missense_Mutation_p.G391W	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	421	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.G421W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCTCCCCACCCTTTCACAAAA	0.388000													16	95					1.99824e-07	3.06989e-07	0.004990	1	0
OR5I1	10798	broad.mit.edu	37	11	55703541	55703541	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:55703541T>A	ENST00000301532.3	-	1	335	c.336A>T	c.(334-336)acA>acT	p.T112T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T112T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAAGGATTCTGTATCTGCAA	0.438000													6	55					0	0	0.001168	0	0
DUSP11	8446	broad.mit.edu	37	2	74000985	74000985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:74000985C>A	ENST00000443070.1	-	4	521	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Missense_Mutation_p.E125D|DUSP11_ENST00000272444.3_Missense_Mutation_p.E172D			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	125	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.E125D(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAAAATAGTCTCATCATCAG	0.308000													22	154					6.33239e-15	1.10775e-14	0.001523	1	0
POU5F1	5460	broad.mit.edu	37	6	31133041	31133041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:31133041A>G	ENST00000513407.1	-	2	1622	c.92T>C	c.(91-93)gTg>gCg	p.V31A	POU5F1_ENST00000512818.1_Missense_Mutation_p.V31A|POU5F1_ENST00000259915.8_Missense_Mutation_p.V227A|POU5F1_ENST00000441888.3_Missense_Mutation_p.V31A|POU5F1_ENST00000606567.1_Missense_Mutation_p.V57A|POU5F1_ENST00000471529.2_Missense_Mutation_p.V31A			Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	227					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.V227A(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCGGGCCTGCACGAGGGTTTC	0.537000			T	EWSR1	sarcoma								4	15					0	0	0.003080	0	0
NLRP7	199713	broad.mit.edu	37	19	55447692	55447692	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:55447692C>T	ENST00000446217.1	-	8	2723	c.2321G>A	c.(2320-2322)cGc>cAc	p.R774H	NLRP7_ENST00000448121.2_Missense_Mutation_p.R718H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R718H|NLRP7_ENST00000590030.1_Missense_Mutation_p.R746H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R746H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R746H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding	p.R746H(1)|p.R718H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCATCGTGCGTTCCCACTC	0.572000													6	78					0	0	0.001984	0	0
ZNF233	353355	broad.mit.edu	37	19	44778728	44778728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:44778728C>A	ENST00000391958.2	+	5	2042	c.1915C>A	c.(1915-1917)Cag>Aag	p.Q639K	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.Q621K	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q639K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCAAGCCCATCAGAGAGTCCA	0.428000													21	58					4.35082e-09	7.01262e-09	0.001523	1	0
CHL1	10752	broad.mit.edu	37	3	447299	447299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:447299G>T	ENST00000256509.2	+	28	4222	c.3580G>T	c.(3580-3582)Gat>Tat	p.D1194Y	CHL1_ENST00000397491.2_Missense_Mutation_p.D1178Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1178					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.D1194Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCAGTGAAGATGGATCATT	0.468000													8	61					7.48243e-07	1.1181e-06	0.006214	1	0
AMER3	205147	broad.mit.edu	37	2	131521386	131521386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:131521386G>T	ENST00000423981.1	+	2	1851	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E581*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.E581*(1)									GCTCGCCGGAGAGAGCAAGGC	0.657000													7	57					2.0095e-06	2.91644e-06	0.001984	1	0
PHKG2	5261	broad.mit.edu	37	16	30762447	30762447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:30762447G>T	ENST00000563588.1	+	3	355	c.116G>T	c.(115-117)cGc>cTc	p.R39L	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R39L|PHKG2_ENST00000328273.7_Missense_Mutation_p.R39L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	39	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.R39L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCTGTGGTCCGCCGTTGTGTT	0.577000													7	55					0.000157383	0.000210272	0.003080	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110520333	110520333	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:110520333T>G	ENST00000378402.5	+	70	11339	c.11235T>G	c.(11233-11235)atT>atG	p.I3745M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3745					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.I3749M(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGAATTATTAGAGATTCAA	0.333000										HNSCC(38;0.096)			6	91					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9083145	9083145	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9083145C>T	ENST00000397910.4	-	1	8873	c.8670G>A	c.(8668-8670)ttG>ttA	p.L2890L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2891	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2890L(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						ACTCAAATGTCAAGGTAGACT	0.517000													7	40					0	0	0.003080	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56771215	56771215	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:56771215C>A	ENST00000413728.2	-	8	1600	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.V379L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.V318L|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.V353L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.V347L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.V347L	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	347	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.V347L(2)|p.V379L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTACTTACCACGCCCCGATTG	0.473000													8	94					3.09899e-07	4.695e-07	0.004482	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42957397	42957397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:42957397A>T	ENST00000485511.1	+	2	255	c.76A>T	c.(76-78)Aag>Tag	p.K26*	PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.K26*|PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.K26*|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	26					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.K26*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCTCGGGCAAGGATGGTGG	0.537000													5	21					0	0	0.000602	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668512	94668512	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:94668512C>T	ENST00000260526.6	-	10	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E306K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	306					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.E306K(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTTTATTTCTTTCCTTTGT	0.299000													12	131					0	0	0.001855	0	0
RPL31P11	641311	broad.mit.edu	37	1	161655026	161655026	+	RNA	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:161655026G>A	ENST00000426558.1	-	0	16					NR_002595.1																						TGGAAAGGAAGAGCGCGAGGG	0.493000													4	19					0	0	0.000248	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576335	33576335	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:33576335G>T	ENST00000504830.1	-	19	4131	c.3796C>A	c.(3796-3798)Cgt>Agt	p.R1266S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1181S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1266	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1266S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGTGGTTACGGTTTGCCGTC	0.498000										HNSCC(64;0.19)			40	505					6.97489e-18	1.27808e-17	0.004878	1	0
HDX	139324	broad.mit.edu	37	X	83724224	83724224	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83724224T>A	ENST00000297977.5	-	3	618	c.507A>T	c.(505-507)ctA>ctT	p.L169L	HDX_ENST00000506585.2_Silent_p.L111L|HDX_ENST00000373177.2_Silent_p.L169L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L169L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTTTCACCTAGGAGTAGGG	0.368000													27	138					0	0	0.005443	0	0
C20orf26	26074	broad.mit.edu	37	20	20051546	20051546	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:20051546C>A	ENST00000377309.2	+	0	306				C20orf26_ENST00000377306.1_Silent_p.I64I|C20orf26_ENST00000245957.5_Silent_p.I64I|C20orf26_ENST00000451767.2_Silent_p.I64I|C20orf26_ENST00000389656.3_De_novo_Start_InFrame			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26									p.I64I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGAGGAGATCATGGCCCAGG	0.488000													6	52					0.00116845	0.00152083	0.001168	1	0
PTF1A	256297	broad.mit.edu	37	10	23482676	23482676	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:23482676A>G	ENST00000376504.3	+	2	1032	c.828A>G	c.(826-828)ctA>ctG	p.L276L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	276					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		p.L276L(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TCCCTCCCCTAGCAGGACACT	0.507000													49	218					0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786248	121786248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:121786248C>T	ENST00000261367.7	+	12	3275	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	SNCAIP_ENST00000379538.3_Missense_Mutation_p.S203F|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S509F|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S127F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S569F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S616F|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S171F|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	569					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.S616F(1)|p.S569F(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCACCTGCCTCCAGAAAGTCC	0.453000													17	212					0	0	0.006122	0	0
GLA	2717	broad.mit.edu	37	X	100653523	100653523	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:100653523A>T	ENST00000218516.3	-	6	855	c.834T>A	c.(832-834)aaT>aaA	p.N278K	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	278					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	p.N278K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TTACTTGCTGATTCCAGCTGA	0.443000													4	182					0	0	0.000248	0	0
RANBP17	64901	broad.mit.edu	37	5	170305126	170305126	+	Missense_Mutation	SNP	G	G	T	rs147041695		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:170305126G>T	ENST00000523189.1	+	2	208	c.44G>T	c.(43-45)tGt>tTt	p.C15F		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	15					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C15F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGTGTTATGTACTCATCTC	0.338000			T	TRD@	ALL								9	46					3.09899e-07	4.695e-07	0.004482	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960592	73960592	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:73960592G>T	ENST00000373468.1	-	3	4451	c.3800C>A	c.(3799-3801)cCt>cAt	p.P1267H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1267H			Q5QGS0	K2022_HUMAN	KIAA2022	1267					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.P1267H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGCCATAGGGCCACCATG	0.527000													8	53					0.00307968	0.00392285	0.003080	1	0
CAPN6	827	broad.mit.edu	37	X	110494870	110494870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:110494870C>A	ENST00000324068.1	-	6	967	c.800G>T	c.(799-801)aGa>aTa	p.R267I	CAPN6_ENST00000541758.1_Missense_Mutation_p.R12I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	267	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.R267I(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCCACAAGTCTCTCTCCAAG	0.483000													43	477					7.63091e-17	1.36773e-16	0.007835	1	0
ZNF221	7638	broad.mit.edu	37	19	44470668	44470668	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:44470668C>T	ENST00000251269.5	+	6	1342	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF221_ENST00000587682.1_Silent_p.F338F|ZNF221_ENST00000592350.1_Silent_p.F338F	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F338F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAAAAGCATTCAGATGTGATA	0.413000													12	160					0	0	0.001368	0	0
CFH	3075	broad.mit.edu	37	1	196696041	196696041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:196696041G>T	ENST00000367429.4	+	14	2447	c.2207G>T	c.(2206-2208)gGa>gTa	p.G736V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	736	Sushi 12.				complement activation, alternative pathway	extracellular space		p.G736V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTATTCATGGAGTATGGACC	0.353000													20	87					0.000175454	0.000233939	0.001523	1	0
ERBB4	2066	broad.mit.edu	37	2	212576896	212576896	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:212576896C>A	ENST00000342788.4	-	9	1313	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.D335Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.D335Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	335					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D335Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAATGCCATCACAAGCTGTA	0.353000										TSP Lung(8;0.080)			7	45					0.00198382	0.00254177	0.001984	1	0
GPR158	57512	broad.mit.edu	37	10	25887611	25887611	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:25887611T>A	ENST00000376351.3	+	11	3415	c.3056T>A	c.(3055-3057)gTg>gAg	p.V1019E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1019						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1019E(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGGTCCTGTGCCTTCAGAA	0.473000													7	71					0	0	0.001984	0	0
FAM189B	10712	broad.mit.edu	37	1	155218083	155218083	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:155218083C>G	ENST00000361361.2	-	11	2100	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q	FAM189B_ENST00000350210.2_Missense_Mutation_p.E435Q|FAM189B_ENST00000368368.3_Missense_Mutation_p.E513Q	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	531						integral to membrane	WW domain binding	p.E531Q(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCAGGCTTCAGAGCAGAGC	0.617000													5	63					0	0	0.001984	0	0
NFAT5	10725	broad.mit.edu	37	16	69725991	69725991	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:69725991G>A	ENST00000349945.1	+	14	3533	c.1981G>A	c.(1981-1983)Gca>Aca	p.A661T	NFAT5_ENST00000432919.1_Missense_Mutation_p.A755T|NFAT5_ENST00000567239.1_Missense_Mutation_p.A754T|NFAT5_ENST00000566899.1_Missense_Mutation_p.A661T|NFAT5_ENST00000393742.2_Missense_Mutation_p.A661T|NFAT5_ENST00000354436.2_Missense_Mutation_p.A737T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	737					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A661T(1)|p.A755T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGACTGAGGCATCACAACA	0.408000													15	60					0	0	0.003163	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782143	62782143	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:62782143C>G	ENST00000336232.2	-	2	423	c.288G>C	c.(286-288)ctG>ctC	p.L96L	SLC22A8_ENST00000311438.8_Silent_p.L96L|SLC22A8_ENST00000545207.1_Silent_p.L5L|SLC22A8_ENST00000430500.2_Silent_p.L96L|SLC22A8_ENST00000535878.1_Intron	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	96					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.L96L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAGCCATCCAGGCATGGCT	0.592000													23	138					0	0	0.002299	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	97					0	0	0.000248	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537000													8	78					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94088614	94088614	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94088614C>G	ENST00000553484.1	+	31	5255	c.5101C>G	c.(5101-5103)Ctg>Gtg	p.L1701V	UNC79_ENST00000555664.1_Missense_Mutation_p.L1679V|UNC79_ENST00000393151.2_Missense_Mutation_p.L1679V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1502V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1679						integral to membrane		p.L1701V(1)|p.L1502V(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						CGTCCTCAGCCTGAGCACAGC	0.527000													8	74					0	0	0.006214	0	0
LASP1	3927	broad.mit.edu	37	17	37070638	37070638	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:37070638G>C	ENST00000318008.6	+	5	749	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	LASP1_ENST00000433206.2_Missense_Mutation_p.E84Q|LASP1_ENST00000435347.3_Missense_Mutation_p.E140Q	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	140						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	p.E140Q(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGAGGGCATGGAGCCAGAGCG	0.632000			T	MLL	AML								3	41					0	0	0.004672	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83362701	83362701	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83362701G>C	ENST00000262752.2	-	13	1048	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.F347L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	347	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.F347L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCAGGTTTGAAAGGAGGTT	0.299000													3	46					0	0	0.000248	0	0
UGT1A6	54578	broad.mit.edu	37	2	234681013	234681013	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:234681013C>G	ENST00000305139.6	+	5	1546	c.1407C>G	c.(1405-1407)ggC>ggG	p.G469G	UGT1A4_ENST00000373409.3_Silent_p.G471G|UGT1A5_ENST00000373414.3_Silent_p.G471G|UGT1A1_ENST00000305208.5_Silent_p.G470G|UGT1A9_ENST00000354728.4_Silent_p.G467G|UGT1A10_ENST00000344644.5_Silent_p.G467G|UGT1A7_ENST00000373426.3_Silent_p.G467G|UGT1A3_ENST00000482026.1_Silent_p.G471G|UGT1A6_ENST00000373424.1_Silent_p.G202G|UGT1A8_ENST00000373450.4_Silent_p.G467G	NM_001072.3	NP_001063.2												p.G467G(4)|p.G471G(3)|p.G469G(1)|p.G470G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GGCACAAGGGCGCGCCACACC	0.627000													10	120					0	0	0.008291	0	0
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:175265748A>T	ENST00000272732.6	+	4	454	c.372A>T	c.(370-372)gaA>gaT	p.E124D	SCRN3_ENST00000409673.3_Missense_Mutation_p.E117D	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124					proteolysis		dipeptidase activity	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323000													4	22					0	0	0.000602	0	0
PCBP3	54039	broad.mit.edu	37	21	47361589	47361589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:47361589C>T	ENST00000400314.1	+	16	1423	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	PCBP3_ENST00000400310.1_Missense_Mutation_p.T342M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T362M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T352M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T336M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T361M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	362					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.T330M(1)|p.T362M(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCAGGCTGACGTCCGAGGTC	0.652000													14	52					0	0	0.002450	0	0
TMEM145	284339	broad.mit.edu	37	19	42819386	42819386	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42819386C>G	ENST00000598766.1	+	7	624	c.624C>G	c.(622-624)atC>atG	p.I208M	TMEM145_ENST00000301204.3_Missense_Mutation_p.I184M			Q8NBT3	TM145_HUMAN	transmembrane protein 145	184						integral to membrane		p.I184M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcatcctcatcttcttcctct	0.537000													4	63					0	0	0.000248	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107279	27107279	+	Silent	SNP	G	G	A	rs150377743	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:27107279G>A	ENST00000354348.2	+	1	204	c.192G>A	c.(190-192)gaG>gaA	p.E64E	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E64E(1)		lung(1)	1						TGTTCCTGGAGAACGTGATCC	0.657000			T	BCL6	NHL								17	60					0	0	0.004007	0	0
MIR519D	574480	broad.mit.edu	37	19	54216609	54216609	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:54216609T>A	ENST00000385246.1	+	0	9					NR_030202.1																						GATCCCATGCTGTGACCCTCC	0.438000													9	120					0	0	0.004482	0	0
LLGL2	3993	broad.mit.edu	37	17	73569271	73569271	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:73569271C>T	ENST00000392550.3	+	20	2754	c.2637C>T	c.(2635-2637)ccC>ccT	p.P879P	LLGL2_ENST00000167462.5_Silent_p.P879P|LLGL2_ENST00000577200.1_Silent_p.P879P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	879					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.P879P(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCGCTGCCCCTGCTCAAGC	0.642000													11	47					0	0	0.001368	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													4	92					0	0	0.000602	0	0
OXSM	54995	broad.mit.edu	37	3	25833258	25833258	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:25833258C>G	ENST00000280701.3	+	2	846	c.747C>G	c.(745-747)tcC>tcG	p.S249S	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	249					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.S249S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGGTTTTCCAGAGCCCGGG	0.478000													16	134					0	0	0.003163	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881181	142881181	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:142881181T>C	ENST00000446620.1	+	1	670	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	224					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.F224L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTGATCATGTTCATCCTGAC	0.507000													22	123					0	0	0.002299	0	0
RABEPK	10244	broad.mit.edu	37	9	127990243	127990243	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:127990243A>G	ENST00000373538.3	+	6	891	c.581A>G	c.(580-582)cAt>cGt	p.H194R	RABEPK_ENST00000259460.8_Missense_Mutation_p.H143R|RABEPK_ENST00000394125.4_Missense_Mutation_p.H194R|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	194					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.H194R(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCTCCCCGGCATGGTCATGTG	0.458000													18	52					0	0	0.008871	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507124	95507124	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:95507124T>A	ENST00000297591.5	-	20	4680	c.4605A>T	c.(4603-4605)ccA>ccT	p.P1535P	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1535					mRNA processing|RNA splicing	nucleus		p.P1535P(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)			CAGCCTGAAATGGAGTGAACC	0.323000													41	156					0	0	0.002222	0	0
HTR4	3360	broad.mit.edu	37	5	147900526	147900526	+	Splice_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:147900526C>T	ENST00000362016.2	-	6	671	c.507_splice	c.e6-1	p.E170_splice	HTR4_ENST00000520514.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000360693.3_Intron			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	169					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGACTCCTTTCCTTGAAAAAG	0.478000													15	80					0	0	0.002450	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417566	150417566	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:150417566C>T	ENST00000307194.5	+	3	614	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.A158A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACCTGGCCGGGGGCTCCC	0.647000													9	76					0	0	0.004482	0	0
IRX1	79192	broad.mit.edu	37	5	3599846	3599846	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:3599846G>T	ENST00000302006.3	+	2	836	c.784G>T	c.(784-786)Gcc>Tcc	p.A262S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A262S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCTCTTGCCCGGGACCA	0.682000													15	46					2.32078e-09	3.7591e-09	0.003163	1	0
CSPP1	79848	broad.mit.edu	37	8	68070788	68070788	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:68070788A>C	ENST00000262210.5	+	18	2364	c.2333A>C	c.(2332-2334)gAg>gCg	p.E778A	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.E433A	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	813						centrosome|microtubule|spindle		p.E778A(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTCagcaggagtatgaagag	0.408000													5	16					0	0	0.001168	0	0
MROH9	80133	broad.mit.edu	37	1	170959103	170959103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:170959103G>T	ENST00000367759.4	+	11	1141	c.987G>T	c.(985-987)aaG>aaT	p.K329N	MROH9_ENST00000367758.3_Missense_Mutation_p.K329N	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.K329N(2)									CACCCAAGAAGGTCATCTTTC	0.468000													18	69					3.41278e-10	5.61099e-10	0.004990	1	0
ZNF536	9745	broad.mit.edu	37	19	31039052	31039052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:31039052C>A	ENST00000355537.3	+	4	2673	c.2526C>A	c.(2524-2526)ttC>ttA	p.F842L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F842L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGGGCCTTCAAGGGTCTCC	0.587000													25	76					6.36457e-07	9.55414e-07	0.003954	1	0
TP63	8626	broad.mit.edu	37	3	189612133	189612133	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:189612133G>T	ENST00000264731.3	+	14	1974	c.1885G>T	c.(1885-1887)Ggc>Tgc	p.G629C	TP63_ENST00000440651.2_Missense_Mutation_p.G625C|TP63_ENST00000449992.1_Missense_Mutation_p.G450C|TP63_ENST00000354600.5_Missense_Mutation_p.G535C|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.G531C|TP63_ENST00000382063.4_Missense_Mutation_p.G544C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	629	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G629C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTCAGTGTGGGCTCCAGTGA	0.582000										HNSCC(45;0.13)			18	91					1.33834e-09	2.17314e-09	0.007413	1	0
DDR1	780	broad.mit.edu	37	6	30862315	30862315	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:30862315G>A	ENST00000324771.8	+	13	1928	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	DDR1_ENST00000452441.1_Silent_p.T460T|DDR1_ENST00000376568.3_Silent_p.T460T|DDR1_ENST00000508312.1_Silent_p.T478T|DDR1_ENST00000454612.2_Silent_p.T460T|DDR1_ENST00000376575.3_Silent_p.T460T|DDR1_ENST00000376569.3_Silent_p.T460T|DDR1_ENST00000376567.2_Silent_p.T460T|DDR1_ENST00000376570.4_Silent_p.T460T|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000418800.2_Silent_p.T460T|DDR1_ENST00000513240.1_Silent_p.T460T			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	460					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T460T(2)|p.T459T(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGAGCTGACGGTTCACCTCT	0.627000													5	60					0	0	0.000602	0	0
OR8U1	219417	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:56143797G>T	ENST00000302270.1	+	1	698	c.698G>T	c.(697-699)gGa>gTa	p.G233V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.G233V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCAGCTGAGGGAAGACAGAAG	0.463000													18	125					1.99824e-07	3.06989e-07	0.004990	1	0
ZNF737	100129842	broad.mit.edu	37	19	20727531	20727531	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:20727531G>A	ENST00000427401.4	-	4	1572	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	493					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S492F(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGGATAAAGGAGCGCTTAAA	0.423000													6	34					0	0	0.001168	0	0
IARS2	55699	broad.mit.edu	37	1	220287726	220287726	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:220287726G>C	ENST00000366922.1	+	12	1665	c.1334G>C	c.(1333-1335)cGg>cCg	p.R445P	IARS2_ENST00000302637.5_Missense_Mutation_p.R517P			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	517					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.R517P(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGGACAGGCGGCCATATTGG	0.383000													44	111					0	0	0.002522	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40666456	40666456	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:40666456C>T	ENST00000343619.4	+	21	2521	c.2398C>T	c.(2398-2400)Ctc>Ttc	p.L800F	ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L446F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L751F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L800F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L794F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L801F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L757F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	800					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L794F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGGCCTTTCTCCACGCACT	0.612000													30	143					0	0	0.002096	0	0
SEC31A	22872	broad.mit.edu	37	4	83791564	83791564	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:83791564T>C	ENST00000432794.1	-	8	959	c.796A>G	c.(796-798)Att>Gtt	p.I266V	SEC31A_ENST00000513858.1_Missense_Mutation_p.I266V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I266V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I266V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I266V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I261V|SEC31A_ENST00000395310.2_Missense_Mutation_p.I266V|SEC31A_ENST00000348405.4_Missense_Mutation_p.I266V|SEC31A_ENST00000326950.5_Missense_Mutation_p.I266V|SEC31A_ENST00000355196.2_Missense_Mutation_p.I266V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I266V|SEC31A_ENST00000508479.1_Missense_Mutation_p.I266V|SEC31A_ENST00000264405.5_Missense_Mutation_p.I38V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Missense_Mutation_p.I266V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I266V|SEC31A_ENST00000505984.1_Missense_Mutation_p.I266V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	266	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I266V(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTCCAAGCAATTGCCAAAATC	0.388000													7	118					0	0	0.003080	0	0
ASB11	140456	broad.mit.edu	37	X	15311352	15311352	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:15311352C>T	ENST00000537676.1	-	4	469	c.397G>A	c.(397-399)Gga>Aga	p.G133R	ASB11_ENST00000380470.3_Missense_Mutation_p.G137R|ASB11_ENST00000344384.4_Missense_Mutation_p.G133R|ASB11_ENST00000480796.1_Missense_Mutation_p.G154R			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	154					intracellular signal transduction			p.G133R(1)|p.G154R(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCCTTGGCTCCGAACTCCAGC	0.552000													31	166					0	0	0.002445	0	0
CRB1	23418	broad.mit.edu	37	1	197326027	197326027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:197326027G>A	ENST00000367400.3	+	5	1190	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	CRB1_ENST00000367399.2_Missense_Mutation_p.G240E|CRB1_ENST00000543483.1_Missense_Mutation_p.G51E|CRB1_ENST00000535699.1_Missense_Mutation_p.G283E|CRB1_ENST00000538660.1_Missense_Mutation_p.G352E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	352	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G352E(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						CAGTCCAATGGGGAATGTGTG	0.473000													6	87					0	0	0.001168	0	0
URB2	9816	broad.mit.edu	37	1	229771885	229771885	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:229771885C>G	ENST00000258243.2	+	4	1661	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	509						nucleolus		p.Q509E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCTCCAAGTCAGATCCTGGA	0.582000													5	171					0	0	0.000602	0	0
ZNF492	57615	broad.mit.edu	37	19	22847414	22847414	+	Missense_Mutation	SNP	G	G	T	rs74170725		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:22847414G>T	ENST00000456783.2	+	4	1187	c.943G>T	c.(943-945)Ggt>Tgt	p.G315C		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G315F(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)				TGAAGAATGTGGTAAGGCCTT	0.383000													11	52					4.68919e-08	7.34155e-08	0.008291	1	0
EFEMP2	30008	broad.mit.edu	37	11	65637376	65637376	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:65637376G>A	ENST00000307998.6	-	7	909	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R227C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	227	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.R227C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGGCAGCGACACAGGAAG	0.607000													17	97					0	0	0.004990	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943926	109943926	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:109943926G>A	ENST00000218054.4	-	7	758	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	CHRDL1_ENST00000434224.1_Missense_Mutation_p.H109Y|CHRDL1_ENST00000372045.1_Missense_Mutation_p.H182Y|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H188Y|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H189Y|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H109Y|CHRDL1_ENST00000444321.2_Missense_Mutation_p.H188Y	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	182					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.H188Y(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCATCAGAATGTTCCCATGAC	0.408000													10	99					0	0	0.008291	0	0
MMP13	4322	broad.mit.edu	37	11	102824901	102824901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:102824901C>T	ENST00000260302.3	-	4	649	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MMP13_ENST00000340273.4_Nonsense_Mutation_p.W207*	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	207					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.W207*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AACTACTTGTCCAGGTTTCAT	0.388000													10	39					0	0	0.008291	0	0
BMP8A	353500	broad.mit.edu	37	1	39991331	39991331	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:39991331T>C	ENST00000331593.5	+	7	1416	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	357					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	p.M357T(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCACCTGATGAAGCCAAAC	0.637000													10	39					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13737491	13737491	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:13737491C>A	ENST00000265104.4	-	66	11429	c.11325G>T	c.(11323-11325)ctG>ctT	p.L3775L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3775	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3775L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTTCTACCAGGGACCCCT	0.433000									Kartagener syndrome				46	241					1.47857e-17	2.76896e-17	0.003610	1	0
HAPLN1	1404	broad.mit.edu	37	5	82940367	82940367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:82940367G>T	ENST00000274341.4	-	4	1440	c.590C>A	c.(589-591)gCc>gAc	p.A197D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	197	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A197D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCCCGCCAGGCGTCGTACAG	0.612000													6	50					2.17888e-05	3.1315e-05	0.006214	1	0
COL7A1	1294	broad.mit.edu	37	3	48620085	48620085	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:48620085C>A	ENST00000328333.8	-	44	4627	c.4518_splice	c.e44-1	p.G1507_splice	COL7A1_ENST00000454817.1_Splice_Site_p.G1507_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1507	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1507V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTGGCAGCCCCTGGAGGAG	0.637000													7	31					0.00198382	0.00260297	0.001984	1	0
LIPI	149998	broad.mit.edu	37	21	15561477	15561477	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr21:15561477C>G	ENST00000344577.2	-	2	398	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	LIPI_ENST00000536861.1_Missense_Mutation_p.E104Q	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.E125Q(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATATCTTCTTCATTCAGC	0.393000													10	62					0	0	0.006214	0	0
MUC3A	4584	broad.mit.edu	37	7	100549604	100549604	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:100549604A>C	ENST00000379458.4	+	2	185	c.185A>C	c.(184-186)cAg>cCg	p.62_62insP	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.Q62P(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGTGTCCCCCAGCTCGCCTCT	0.567000													19	118					0	0	0.008871	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020672	33020672	+	RNA	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:33020672G>A	ENST00000565407.2	+	0	80				RP11-19N8.2_ENST00000567619.1_RNA														p.G27E(1)									GTGGAGTCTGGGGGAGGCTTG	0.567000													27	109					0	0	0.005524	0	0
ALAS2	212	broad.mit.edu	37	X	55052311	55052311	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:55052311C>A	ENST00000330807.5	-	2	260	c.123G>T	c.(121-123)ctG>ctT	p.L41L	ALAS2_ENST00000396198.3_Silent_p.L65L|ALAS2_ENST00000335854.4_Silent_p.L41L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	41					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L65L(1)|p.L41L(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGGGTAGCCAGGATGGGAC	0.542000													12	86					7.93312e-07	1.20459e-06	0.002450	1	0
CIZ1	25792	broad.mit.edu	37	9	130941408	130941408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr9:130941408G>A	ENST00000538431.1	-	8	1325	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q331*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q259*|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q336*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q360*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	360	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.Q360*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ggctgcacctgcttctgttgc	0.602000													12	34					0	0	0.001368	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197272	71197272	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:71197272G>C	ENST00000554752.2	-	12	3139	c.3140C>G	c.(3139-3141)cCt>cGt	p.P1047R	MAP3K9_ENST00000554146.1_Missense_Mutation_p.P775R|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P1061R|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P780R|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P1024R			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1047					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.P1061R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGAAGTCCAGGCCGCTCCTC	0.662000													5	52					0	0	0.000602	0	0
ALG10	84920	broad.mit.edu	37	12	34175705	34175705	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:34175705G>T	ENST00000266483.2	+	1	490	c.171_splice	c.e1+1	p.Q57_splice	ALG10_ENST00000538927.1_Splice_Site_p.Q57_splice|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	57					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.Q57H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCTTTCCCAGGTGGGGTCCC	0.642000													29	118					1.2476e-16	2.30154e-16	0.006320	1	0
CXorf22	170063	broad.mit.edu	37	X	35969251	35969251	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:35969251G>T	ENST00000297866.5	+	5	726	c.660G>T	c.(658-660)gtG>gtT	p.V220V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	220								p.V220V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTGTAGAGTGATTTTGCAAG	0.333000													9	58					0.000442599	0.000597219	0.006214	1	0
UGT2B17	7367	broad.mit.edu	37	4	69416468	69416468	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:69416468G>T	ENST00000317746.2	-	5	1282	c.1240C>A	c.(1240-1242)Ctc>Atc	p.L414I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	414					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L414I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCCACACTGAGGGCTGCTCCC	0.448000													44	199					3.77016e-25	7.32691e-25	0.003214	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896287	151896287	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:151896287G>T	ENST00000361201.4	-	0	443					NR_073432.1													p.S42Y(1)		endometrium(2)|kidney(2)|lung(1)	5						CTTTTAGGGAGAGCCTTTTGT	0.507000													16	155					0.000308642	0.00041921	0.003163	1	0
PAK3	5063	broad.mit.edu	37	X	110459767	110459767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:110459767C>A	ENST00000519681.1	+	18	2031	c.1589C>A	c.(1588-1590)tCt>tAt	p.S530Y	PAK3_ENST00000262836.4_Missense_Mutation_p.S524Y|PAK3_ENST00000425146.1_Missense_Mutation_p.S509Y|PAK3_ENST00000372007.4_Missense_Mutation_p.S509Y|PAK3_ENST00000372010.1_Missense_Mutation_p.S524Y|PAK3_ENST00000417227.1_Missense_Mutation_p.S530Y|PAK3_ENST00000360648.4_Missense_Mutation_p.S545Y|PAK3_ENST00000518291.1_Missense_Mutation_p.S545Y|PAK3_ENST00000446737.1_Missense_Mutation_p.S509Y			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	524	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.S545Y(1)|p.S509Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCGAGGATCTGCCAAGGAG	0.433000										TSP Lung(19;0.15)			13	118					3.27435e-08	5.26966e-08	0.002450	1	0
C6orf10	10665	broad.mit.edu	37	6	32261493	32261493	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:32261493C>T	ENST00000375015.4	-	26	1154	c.954G>A	c.(952-954)caG>caA	p.Q318Q	C6orf10_ENST00000533191.1_Silent_p.Q317Q|C6orf10_ENST00000375007.4_Silent_p.Q317Q|C6orf10_ENST00000442822.2_Silent_p.Q310Q|C6orf10_ENST00000527965.1_Silent_p.Q303Q|C6orf10_ENST00000447241.2_Silent_p.Q319Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	319						integral to membrane		p.G320R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTTGGGCTCCCTGTCCTTGTG	0.443000													38	200					0	0	0.004289	0	0
SRPK1	6732	broad.mit.edu	37	6	35837307	35837307	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:35837307A>C	ENST00000373825.2	-	11	1648	c.1363T>G	c.(1363-1365)Tgt>Ggt	p.C455G	SRPK1_ENST00000423325.2_Missense_Mutation_p.C439G|SRPK1_ENST00000373822.1_Missense_Mutation_p.C348G			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	455	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.C455G(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCATCTTCACAGGGTATCTCT	0.463000													14	149					0	0	0.002450	0	0
AEBP1	165	broad.mit.edu	37	7	44149642	44149642	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:44149642C>A	ENST00000223357.3	+	10	1484	c.1179C>A	c.(1177-1179)caC>caA	p.H393Q	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	393	F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H393Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGTCACACCGTATTGAGG	0.627000													8	33					3.07112e-06	4.54055e-06	0.000978	1	0
GPN2	54707	broad.mit.edu	37	1	27215499	27215499	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:27215499G>A	ENST00000374135.4	-	2	729	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	177							GTP binding	p.L177F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ATCTTGGAAAGGAGGTTGATG	0.532000													15	270					0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123234842	123234842	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:123234842G>T	ENST00000264501.4	+	60	10685	c.10312_splice	c.e60+1	p.E3438_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.E3438_splice|KIAA1109_ENST00000455637.1_Splice_Site_p.E3438_splice			Q2LD37	K1109_HUMAN	KIAA1109	3438					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.E3438*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCAGCAGCTGGTAGGTTCAC	0.353000													13	75					7.93312e-07	1.20459e-06	0.002450	1	0
RP2	6102	broad.mit.edu	37	X	46712938	46712938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:46712938G>T	ENST00000218340.3	+	2	291	c.130G>T	c.(130-132)Gga>Tga	p.G44*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	44	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.G44*(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CATGTTCAGTGGACTGAAGGA	0.388000													7	95					8.12818e-05	0.000112628	0.001984	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004779	55004779	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:55004779A>T	ENST00000216420.7	+	6	810		c.e6-1		CGRRF1_ENST00000557512.1_Splice_Site	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1						cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.?(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TTTGATTTTCAGCAACTTTTC	0.308000													3	25					0	0	0.004672	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	14					0.004672	0.00604037	0.004672	1	0
ZNF831	128611	broad.mit.edu	37	20	57769634	57769634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:57769634G>T	ENST00000371030.2	+	1	3560	c.3560G>T	c.(3559-3561)tGc>tTc	p.C1187F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1187						intracellular	nucleic acid binding|zinc ion binding	p.C1187F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGTGGTGTTGCCTGAGCCGC	0.642000													21	20					3.8784e-16	7.09128e-16	0.001882	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141262908	141262908	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:141262908C>A	ENST00000389328.4	-	16	2707	c.2693G>T	c.(2692-2694)tGc>tTc	p.C898F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.C791F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.C800F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	800					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.C898F(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTCTCCTGGCAGGAGAAATC	0.498000													27	46					1.75199e-13	3.12927e-13	0.007291	1	0
TUB	7275	broad.mit.edu	37	11	8060490	8060490	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:8060490G>A	ENST00000305253.4	+	1	311	c.70G>A	c.(70-72)Gga>Aga	p.G24R	RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.G24R(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TTTGTTCCCAGGAGGCACTCC	0.552000													13	97					0	0	0.001855	0	0
OR10A6	390093	broad.mit.edu	37	11	7949730	7949730	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:7949730T>C	ENST00000309838.2	-	1	479	c.480A>G	c.(478-480)acA>acG	p.T160T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T160T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACCCATGATGTTTGAACAG	0.348000													6	50					0	0	0.001984	0	0
SMARCC1	6599	broad.mit.edu	37	3	47752263	47752263	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:47752263G>A	ENST00000254480.5	-	9	947	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	276					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.F276F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCATTCATTGAAAATATCAG	0.338000													5	67					0	0	0.000602	0	0
PPRC1	23082	broad.mit.edu	37	10	103898672	103898672	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:103898672G>A	ENST00000278070.2	+	4	565	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	PPRC1_ENST00000413464.2_Missense_Mutation_p.E176K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACCCCCAGAACGTGACCT	0.542000													7	59					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126242685	126242685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:126242685G>T	ENST00000394329.3	+	1	5132	c.5119G>T	c.(5119-5121)Gtg>Ttg	p.V1707L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1707	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1707L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTTTACCTGGTGGATGTTTA	0.398000													6	79					0.00116845	0.00155625	0.001168	1	0
PIWIL2	55124	broad.mit.edu	37	8	22161574	22161574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:22161574G>A	ENST00000356766.6	+	11	1370	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E408K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E408K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	408	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.E408K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTCCAGGATGAGTGTACTAA	0.378000													6	69					0	0	0.001984	0	0
POF1B	79983	broad.mit.edu	37	X	84559397	84559397	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:84559397C>A	ENST00000262753.4	-	14	1663	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	POF1B_ENST00000373145.3_Silent_p.L506L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	506							actin binding	p.L506L(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCAAGCTTGTCAGTTCATGAA	0.378000													16	47					0.00316338	0.00412441	0.003163	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	61					0	0	0.001984	0	0
EHMT2	10919	broad.mit.edu	37	6	31857313	31857313	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:31857313C>G	ENST00000395728.3	-	7	1101	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.E368Q|EHMT2_ENST00000375537.4_Missense_Mutation_p.E311Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.E311Q			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.E311Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						tcttcctcttcttcttcttcc	0.493000													3	71					0	0	0.004672	0	0
ALK	238	broad.mit.edu	37	2	29551314	29551314	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:29551314C>A	ENST00000389048.3	-	6	2222	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	439	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S439I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTGAAGGAGCTCTGCAGGGC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	61					1.06961e-07	1.69928e-07	0.003080	1	0
ITGA4	3676	broad.mit.edu	37	2	182339792	182339792	+	Splice_Site	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:182339792T>A	ENST00000397033.2	+	3	855	c.426_splice	c.e3+1	p.V142_splice	ITGA4_ENST00000339307.4_Splice_Site_p.V142_splice|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	142					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.V142E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGATCCATCGTGGTAGGTATT	0.448000													5	34					0	0	0.000602	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618236	156618236	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:156618236A>G	ENST00000296518.7	+	3	426	c.217A>G	c.(217-219)Act>Gct	p.T73A	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T73A|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T73A			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	73					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.T73A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTATCTTCACACTTTGGCAGA	0.398000													8	98					0	0	0.004482	0	0
KIAA1549	57670	broad.mit.edu	37	7	138556069	138556069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:138556069G>C	ENST00000440172.1	-	13	4433	c.4385C>G	c.(4384-4386)tCa>tGa	p.S1462*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S1412*|KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S1462*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1462						integral to membrane		p.S1462*(1)|p.S1412*(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATGGAGGCTGATGAGTGCTG	0.562000			O	BRAF	pilocytic astrocytoma								7	73					0	0	0.001984	0	0
DPEP1	1800	broad.mit.edu	37	16	89704574	89704574	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:89704574T>G	ENST00000393092.3	+	11	1471	c.1180T>G	c.(1180-1182)Tgg>Ggg	p.W394G	DPEP1_ENST00000421184.1_Missense_Mutation_p.W394G|DPEP1_ENST00000261615.4_Missense_Mutation_p.W394G	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	394					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.W394G(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCATCGCCACTGGGGGCTCCT	0.662000													6	33					0	0	0.001984	0	0
WDR90	197335	broad.mit.edu	37	16	706348	706348	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:706348C>T	ENST00000549091.1	+	18	2105	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L	WDR90_ENST00000293879.4_Silent_p.L671L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	671								p.L671L(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGATGGCCTCCGTGTGCTGT	0.706000													3	10					0	0	0.004672	0	0
KANSL1	284058	broad.mit.edu	37	17	44249069	44249069	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:44249069T>A	ENST00000262419.6	-	2	911	c.441A>T	c.(439-441)acA>acT	p.T147T	KANSL1_ENST00000432791.1_Silent_p.T147T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.T147T|KANSL1_ENST00000574590.1_Silent_p.T147T|KANSL1_ENST00000572904.1_Silent_p.T147T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	147						MLL1 complex	protein binding	p.T147T(1)									GTGGCAGAGCTGTCTGACCAC	0.438000													49	476					0	0	0.003610	0	0
TENC1	23371	broad.mit.edu	37	12	53442938	53442938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:53442938G>C	ENST00000314276.3	+	1	206	c.11G>C	c.(10-12)gGt>gCt	p.G4A	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546793.1_RNA	NM_015319.2	NP_056134.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	0					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.G4A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ATGGATGGGGGTGGAGTATGT	0.627000													9	66					0	0	0.001368	0	0
KMT2C	58508	broad.mit.edu	37	7	151876995	151876995	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:151876995C>T	ENST00000355193.2	-	37	7584	c.7366G>A	c.(7366-7368)Gct>Act	p.A2456T	KMT2C_ENST00000262189.6_Missense_Mutation_p.A2456T					lysine (K)-specific methyltransferase 2C									p.A2456T(2)									GGGAAAACAGCATATCTAGGT	0.488000													16	104					0	0	0.004007	0	0
ATP1A3	478	broad.mit.edu	37	19	42492226	42492226	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:42492226C>T	ENST00000545399.1	-	4	411	c.258G>A	c.(256-258)ccG>ccA	p.P86P	ATP1A3_ENST00000302102.5_Silent_p.P73P|ATP1A3_ENST00000543770.1_Silent_p.P84P|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_Silent_p.P43P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	73					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.P73P(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGTGGTAGGCGGTGGCGTGA	0.622000													10	86					0	0	0.006214	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030676	10030676	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:10030676G>A	ENST00000378380.3	+	6	1788	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D487N|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.D487N(1)									TTGGTACATTGATGATTCAGA	0.398000													41	119					0	0	0.008740	0	0
FAM133A	286499	broad.mit.edu	37	X	92965126	92965126	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:92965126G>A	ENST00000538690.1	+	5	1269	c.708G>A	c.(706-708)aaG>aaA	p.K236K	FAM133A_ENST00000355813.5_Silent_p.K236K|FAM133A_ENST00000332647.4_Silent_p.K236K|FAM133A_ENST00000322139.4_Silent_p.K236K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	236	Lys-rich.							p.K236K(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						atagtaagaagaagaaaaaga	0.363000													4	32					0	0	0.000248	0	0
LINC00471	151477	broad.mit.edu	37	2	232373893	232373893	+	RNA	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:232373893C>G	ENST00000313064.2	-	0	525					NR_024079.1													p.R66S(1)									ACTCACTGTTCCTGTCTTCAT	0.502000													17	275					0	0	0.004990	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382556	41382556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:41382556C>A	ENST00000377801.3	-	2	258	c.184G>T	c.(184-186)Gtc>Ttc	p.V62F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V62F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	62	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.V62F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACAGAGACAAAATTCTGG	0.448000													30	192					5.45727e-16	9.94865e-16	0.008361	1	0
OTOGL	283310	broad.mit.edu	37	12	80750640	80750640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:80750640C>A	ENST00000458043.2	+	48	5944	c.5938C>A	c.(5938-5940)Caa>Aaa	p.Q1980K	OTOGL_ENST00000547103.1_Missense_Mutation_p.Q1968K|OTOGL_ENST00000546620.1_5'UTR	NM_173591.3	NP_775862.3			otogelin-like									p.Q1980K(1)|p.Q345K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGAGAAGATCAATTCATGAT	0.343000													8	60					0.000274275	0.000373352	0.004482	1	0
CDH9	1007	broad.mit.edu	37	5	26988490	26988490	+	Splice_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:26988490C>T	ENST00000231021.4	-	2	124		c.e2-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTTTTTCCTAAAGAGTAA	0.313000													13	48					0	0	0.001368	0	0
TPM3	7170	broad.mit.edu	37	1	154141852	154141852	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:154141852G>C	ENST00000328159.4	-	8	671	c.672C>G	c.(670-672)ctC>ctG	p.L224L	TPM3_ENST00000271850.7_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000368530.2_Silent_p.L261L|TPM3_ENST00000368533.3_Intron			P06753	TPM3_HUMAN	tropomyosin 3	260					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	p.L261L(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTGGGCATAGAGCTCATCTG	0.493000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								3	51					0	0	0.000248	0	0
CDH9	1007	broad.mit.edu	37	5	26902655	26902655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:26902655C>A	ENST00000231021.4	-	7	1355	c.1183G>T	c.(1183-1185)Gat>Tat	p.D395Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	395	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D395Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCTTTACATCTTCATCTACT	0.368000													62	93					4.96213e-28	9.70443e-28	0.003610	1	0
CKAP5	9793	broad.mit.edu	37	11	46786761	46786761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:46786761C>G	ENST00000529230.1	-	28	3503	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H	CKAP5_ENST00000312055.5_Missense_Mutation_p.D1153H|CKAP5_ENST00000354558.3_Missense_Mutation_p.D1153H|CKAP5_ENST00000415402.1_Missense_Mutation_p.D1153H			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1153					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.D1153H(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGTCTTCATCCTCCTTTAAG	0.398000													6	146					0	0	0.001984	0	0
MAML1	9794	broad.mit.edu	37	5	179192504	179192504	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:179192504G>T	ENST00000292599.3	+	2	756	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	165					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.D202Y(1)|p.D165Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTCAGTCTGACAAGCCTTC	0.597000													12	58					3.07112e-06	4.54055e-06	0.000978	1	0
TCL6	27004	broad.mit.edu	37	14	96134559	96134559	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:96134559G>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CTCGGACGAAGTGTTTCCAGA	0.488000			T	TRA@	T-ALL								14	113					1.05317e-09	1.76864e-09	0.002450	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857858	9857858	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:9857858G>A	ENST00000396573.2	-	14	3852	c.3543C>T	c.(3541-3543)aaC>aaT	p.N1181N	GRIN2A_ENST00000535259.1_Silent_p.N1024N|GRIN2A_ENST00000562109.1_Silent_p.N1181N|GRIN2A_ENST00000404927.2_Silent_p.N1181N|GRIN2A_ENST00000330684.3_Silent_p.N1181N|GRIN2A_ENST00000396575.2_Silent_p.N1181N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1181					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.N1181N(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TATACTGGTCGTTGTTGGAAA	0.552000													19	351					0	0	0.001523	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339545	13339545	+	RNA	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:13339545C>G	ENST00000602906.1	+	0	896																				kidney(3)|lung(1)	4						ATACAGAAGTCCATCTATTAC	0.478000													10	35					0	0	0.006214	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48718899	48718899	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:48718899C>T	ENST00000294129.2	-	5	1032	c.913G>A	c.(913-915)Gag>Aag	p.E305K	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E305K|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.E298K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	305					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	p.E305K(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCCGCCTCAGCTGCTGCC	0.602000													8	52					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582513	136582513	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:136582513T>A	ENST00000531224.1	-	12	2899	c.2647A>T	c.(2647-2649)Agc>Tgc	p.S883C	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S832C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S834C|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S101C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S710C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S832C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S881C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	883					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S883C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAGGACTGCTACCTGATTTT	0.433000													37	348					0	0	0.005524	0	0
METTL21A	151194	broad.mit.edu	37	2	208489097	208489097	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:208489097C>T	ENST00000411432.1	-	2	219	c.3G>A	c.(1-3)atG>atA	p.M1I	METTL21A_ENST00000458426.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000448823.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000448007.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000442521.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000432416.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000426075.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000425132.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000406927.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000272839.3_Start_Codon_SNP_p.M1I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	1						integral to membrane	methyltransferase activity	p.M1I(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCACGAGGGCCATTCCGCCTG	0.522000													7	61					0	0	0.004482	0	0
OR2G6	391211	broad.mit.edu	37	1	248685555	248685555	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:248685555G>T	ENST00000343414.4	+	1	640	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGTGGCCAGTGTAGTCTTT	0.473000													35	86					1.99505e-19	3.79367e-19	0.002445	1	0
ASXL3	80816	broad.mit.edu	37	18	31322919	31322919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr18:31322919G>T	ENST00000269197.5	+	12	3107	c.3107G>T	c.(3106-3108)cGa>cTa	p.R1036L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.R743L(1)|p.R1036L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGAGTCTCGAGCATCCACT	0.507000													8	17					1.12685e-05	1.63473e-05	0.004482	1	0
MIOS	54468	broad.mit.edu	37	7	7636007	7636007	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:7636007C>T	ENST00000340080.4	+	11	2737	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	MIOS_ENST00000405785.1_Silent_p.V772V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	772								p.V772V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATCTAAAGTCACAAGTTGTC	0.458000													15	133					0	0	0.004990	0	0
SDSL	113675	broad.mit.edu	37	12	113873251	113873251	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:113873251G>C	ENST00000403593.4	+	6	823	c.561G>C	c.(559-561)ctG>ctC	p.L187L	SDSL_ENST00000345635.4_Silent_p.L187L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	187					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	p.L187L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CTGGCCTGCTGGAGGTGGGCT	0.647000													10	34					0	0	0.006214	0	0
ABCA8	10351	broad.mit.edu	37	17	66883272	66883272	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:66883272C>A	ENST00000269080.2	-	24	3333		c.e24-1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACATGGGATCTAAAATCAAC	0.353000													11	22					3.07112e-06	4.54055e-06	0.000978	1	0
F13B	2165	broad.mit.edu	37	1	197031046	197031046	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:197031046A>G	ENST00000367412.1	-	3	362	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	107	Sushi 2.				blood coagulation	extracellular region		p.L107L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTTTATACAATAACTTTACA	0.368000													10	62					0	0	0.008291	0	0
IL21R	50615	broad.mit.edu	37	16	27441410	27441410	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:27441410C>A	ENST00000337929.3	+	2	491	c.18C>A	c.(16-18)gcC>gcA	p.A6A	IL21R_ENST00000395755.1_Silent_p.A6A|IL21R_ENST00000395754.4_Silent_p.A6A|IL21R_ENST00000564089.1_Silent_p.A6A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	6					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.A6A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GTGGCTGGGCCGCCCCCTTGC	0.721000			T	BCL6	NHL								5	29					3.59834e-05	5.08872e-05	0.001168	1	0
CDHR3	222256	broad.mit.edu	37	7	105662817	105662817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:105662817C>G	ENST00000542731.1	+	14	2107	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.L579V|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.L667V			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	667	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L667V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCGGAGGCTCTTGTTGAGAC	0.473000													14	180					0	0	0.002450	0	0
ITGA8	8516	broad.mit.edu	37	10	15646286	15646286	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:15646286C>A	ENST00000378076.3	-	20	2392	c.2039G>T	c.(2038-2040)gGg>gTg	p.G680V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	680					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G680V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCTCCTTCCCCTTCATTTCT	0.363000													14	67					1.5842e-08	2.58321e-08	0.001855	1	0
TMLHE	55217	broad.mit.edu	37	X	154736778	154736778	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:154736778C>A	ENST00000334398.3	-	6	921	c.776G>T	c.(775-777)tGt>tTt	p.C259F	TMLHE_ENST00000369439.4_Missense_Mutation_p.C259F|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	259					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	p.C259F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGTTTAAGACAATGAAACAC	0.358000													20	216					4.16121e-05	5.85792e-05	0.002780	1	0
C11orf48	79081	broad.mit.edu	37	11	62435066	62435066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:62435066G>C	ENST00000431002.2	-	2	2278	c.545C>G	c.(544-546)tCa>tGa	p.S182*	C11orf48_ENST00000354588.3_Nonsense_Mutation_p.S156*|METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000532208.1_Nonsense_Mutation_p.S156*			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	182								p.S156*(1)		endometrium(1)|lung(5)|urinary_tract(1)	7						GGAGCCTGTTGAGTCCCAGAA	0.507000													36	218					0	0	0.006230	0	0
RBM6	10180	broad.mit.edu	37	3	50005024	50005024	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:50005024G>A	ENST00000266022.4	+	3	425	c.166G>A	c.(166-168)Gat>Aat	p.D56N	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	56					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.D56N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCCCTTTGATTTCCAGGG	0.527000													13	133					0	0	0.001855	0	0
NOX1	27035	broad.mit.edu	37	X	100106267	100106267	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:100106267C>T	ENST00000372966.3	-	8	1057	c.852G>A	c.(850-852)agG>agA	p.R284R	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.R247R|NOX1_ENST00000217885.5_Silent_p.R284R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	284	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	p.R284R(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACCGGAGGATCCTTTCACAGA	0.423000													9	26					0	0	0.006214	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216420	19216420	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:19216420C>T	ENST00000318596.7	+	5	415	c.264C>T	c.(262-264)agC>agT	p.S88S	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	88					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S88S(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GATTTCTCAGCTTGTGGCGCG	0.622000													7	16					0	0	0.001984	0	0
UTS2B	257313	broad.mit.edu	37	3	190993124	190993124	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:190993124A>G	ENST00000340524.5	-	8	1037	c.251T>C	c.(250-252)cTa>cCa	p.L84P	UTS2B_ENST00000427544.2_Missense_Mutation_p.L84P	NM_198152.3	NP_937795.2			urotensin 2B									p.L84P(1)									CTGTTCTTTTAGCTTTTCCAG	0.418000													20	101					0	0	0.001523	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200327	100200327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:100200327C>T	ENST00000547776.2	-	4	523	c.524G>A	c.(523-525)aGa>aAa	p.R175K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R175K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	175						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R175K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTACCACTCTAAGCCGTCC	0.493000													8	58					0	0	0.003080	0	0
TAF3	83860	broad.mit.edu	37	10	8019213	8019213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:8019213G>T	ENST00000344293.5	+	4	2448	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	748					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.E748*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GATAAAAGTGGAACCAGTCGC	0.448000													13	54					1.36491e-13	2.44497e-13	0.001855	1	0
RBM19	9904	broad.mit.edu	37	12	114374889	114374889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:114374889C>A	ENST00000545145.2	-	16	2069	c.1991G>T	c.(1990-1992)aGc>aTc	p.S664I	RBM19_ENST00000261741.5_Missense_Mutation_p.S664I|RBM19_ENST00000392561.3_Missense_Mutation_p.S664I|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	664					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.S664I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGGGCTGTGCTGGAGAAGAC	0.527000													11	104					2.27111e-07	3.54431e-07	0.001368	1	0
L3HYPDH	112849	broad.mit.edu	37	14	59942718	59942718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:59942718T>A	ENST00000247194.4	-	4	921	c.808A>T	c.(808-810)Aga>Tga	p.R270*	L3HYPDH_ENST00000487285.1_Nonsense_Mutation_p.R99*	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)									p.R270*(1)									GTGGGACTTCTGTCAACCTGT	0.428000													9	74					0	0	0.006214	0	0
LILRA2	11027	broad.mit.edu	37	19	55086935	55086935	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:55086935G>T	ENST00000251377.3	+	6	1001	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	LILRA2_ENST00000251376.3_Missense_Mutation_p.G290W|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290W|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278W					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657000													10	59					1.76689e-08	2.86598e-08	0.006214	1	0
IL3RA	3563	broad.mit.edu	37	X	1460679	1460679	+	Silent	SNP	G	G	T	rs138038721	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:1460679G>T	ENST00000331035.4	+	2	370	c.21G>T	c.(19-21)acG>acT	p.T7T	IL3RA_ENST00000381469.2_Silent_p.T7T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	7						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.T7T(1)		lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	TTTGGCTCACGCTGCTCCTGA	0.607000													14	145					2.62699e-14	4.73317e-14	0.003163	1	0
ACTL8	81569	broad.mit.edu	37	1	18152740	18152740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:18152740T>C	ENST00000375406.1	+	3	1043	c.827T>C	c.(826-828)aTt>aCt	p.I276T		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	276						cytoplasm|cytoskeleton		p.I276T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCACGGGCCATTGTGGAATCC	0.662000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	55					0	0	0.008291	0	0
ZNF511	118472	broad.mit.edu	37	10	135165834	135165834	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:135165834C>G	ENST00000368554.4	+	8	845	c.823C>G	c.(823-825)Ccg>Gcg	p.P275A	PRAP1_ENST00000433452.2_Missense_Mutation_p.P116A|PRAP1_ENST00000423766.1_Missense_Mutation_p.P117A|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Missense_Mutation_p.P107A			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P116A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTACCACCCTCCGCCTGAGGA	0.632000													8	86					0	0	0.006214	0	0
DPEP1	1800	broad.mit.edu	37	16	89704489	89704489	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:89704489G>A	ENST00000393092.3	+	11	1386	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	DPEP1_ENST00000421184.1_Silent_p.E365E|DPEP1_ENST00000261615.4_Silent_p.E365E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	365					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.E365E(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTCCCGAGGAGGAGCCCATCC	0.687000													3	14					0	0	0.004672	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464496	141464496	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:141464496C>G	ENST00000247879.2	+	1	600	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	180					sensory perception of taste		taste receptor activity	p.L180V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TGAGTATTATCTGATCCATGT	0.478000													17	53					0	0	0.006122	0	0
ZNF274	10782	broad.mit.edu	37	19	58723923	58723923	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:58723923G>A	ENST00000326804.4	+	9	1832	c.1373G>A	c.(1372-1374)aGt>aAt	p.S458N	ZNF274_ENST00000345813.3_Missense_Mutation_p.S426N|ZNF274_ENST00000424679.2_Missense_Mutation_p.S353N|ZNF274_ENST00000597818.1_3'UTR	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	459					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S426N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CAAGTTAAAAGTATGAAACAT	0.428000													11	135					0	0	0.008291	0	0
RAG1	5896	broad.mit.edu	37	11	36596398	36596398	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:36596398C>A	ENST00000299440.5	+	2	1656	c.1544C>A	c.(1543-1545)cCa>cAa	p.P515Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	515					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.P515Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTACTTCTGCCAGGCTACCAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis				15	104					2.48551e-13	4.40127e-13	0.004990	1	0
CSMD3	114788	broad.mit.edu	37	8	113299475	113299475	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:113299475C>A	ENST00000297405.5	-	58	9393	c.9148_splice	c.e58-1	p.G3050_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G2881_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3010_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G2980_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3050	Sushi 21.					integral to membrane|plasma membrane		p.G3010V(1)|p.G3050V(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						AGTAGCATCACCTGCAATGCA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	89					0.00198382	0.00260297	0.001984	1	0
KIFAP3	22920	broad.mit.edu	37	1	170015946	170015946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:170015946C>T	ENST00000367765.1	-	3	1607	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	KIFAP3_ENST00000367767.1_Missense_Mutation_p.E32K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E76K|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	76					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.E76K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTACATTCTTCAACCACCTTC	0.373000													16	99					0	0	0.003163	0	0
RBP3	5949	broad.mit.edu	37	10	48389623	48389623	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:48389623C>T	ENST00000224600.4	-	1	1368	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	419	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E419K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGATAGCCTCGTCCTCAGGC	0.637000													5	43					0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	30936456	30936456	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:30936456G>T	ENST00000355537.3	+	2	2134	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G663W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGGATGGGCTGCACGT	0.697000													7	51					0.00198382	0.00260297	0.001984	1	0
FCGR2B	2213	broad.mit.edu	37	1	161647156	161647156	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:161647156G>T	ENST00000367962.4	+	7	982		c.e7+1		FCGR2B_ENST00000236937.9_Splice_Site|FCGR2B_ENST00000367961.4_Splice_Site|FCGR2B_ENST00000403078.3_Splice_Site|FCGR2B_ENST00000358671.5_Splice_Site|FCGR2B_ENST00000367960.5_Splice_Site			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	p.?(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAAGTTGGGGTGAGTGATCC	0.537000			T	?	ALL								22	90					2.32416e-17	4.32629e-17	0.002299	1	0
CYP2B6	1555	broad.mit.edu	37	19	41515256	41515256	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:41515256G>A	ENST00000324071.4	+	5	785	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	260					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A260T(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGACCCCAGCGCCCCCAAGGA	0.557000													20	58					0	0	0.008871	0	0
MCM3	4172	broad.mit.edu	37	6	52149468	52149468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:52149468G>A	ENST00000596288.1	-	1	167	c.140C>T	c.(139-141)gCg>gTg	p.A47V	MCM3_ENST00000229854.7_Missense_Mutation_p.A2V|MCM3_ENST00000419835.2_5'UTR	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	2					cell cycle checkpoint|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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.A2V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CACGGTACCCGCCATGCCCGC	0.647000													4	7					0	0	0.000602	0	0
BRCC3	79184	broad.mit.edu	37	X	154344446	154344446	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:154344446G>T	ENST00000369462.1	+	9	763	c.738G>T	c.(736-738)gcG>gcT	p.A246A	BRCC3_ENST00000330045.7_Silent_p.A221A|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000340647.4_Silent_p.A222A|BRCC3_ENST00000399042.1_Silent_p.A246A	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	246					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A246A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCAGGATGCGTATAGGAGGA	0.478000													3	19					0.004672	0.00604037	0.004672	1	0
REG1A	5967	broad.mit.edu	37	2	79349171	79349171	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:79349171G>T	ENST00000233735.1	+	4	344	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	81	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGGCCGAGGGTGCCTTTGT	0.517000													12	105					7.93312e-07	1.20459e-06	0.002450	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058337	152058337	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:152058337C>G	ENST00000368806.1	-	3	1885	c.1821G>C	c.(1819-1821)ctG>ctC	p.L607L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	607							calcium ion binding	p.L607L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCACTGCCTCCAGAGCTCTGT	0.537000													36	136					0	0	0.002836	0	0
GK	2710	broad.mit.edu	37	X	30709248	30709248	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:30709248G>C	ENST00000378943.3	+	5	525	c.346G>C	c.(346-348)Gat>Cat	p.D116H	GK_ENST00000378945.3_Missense_Mutation_p.D116H|GK_ENST00000378946.3_Missense_Mutation_p.D116H|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	116					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.D116H(1)		central_nervous_system(1)|large_intestine(3)	4						AGTGTGGCTTGATCTAAGAAC	0.289000													5	147					0	0	0.000602	0	0
MAP3K1	4214	broad.mit.edu	37	5	56160759	56160759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:56160759C>T	ENST00000399503.3	+	4	1033	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	345					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Q182*(1)|p.Q345*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TATTGGGCCTCAGGTAGGATT	0.383000													6	66					0	0	0.001168	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694784	48694784	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:48694784T>C	ENST00000236495.5	+	4	399	c.349T>C	c.(349-351)Tca>Cca	p.S117P	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.S117P|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Intron	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.S110P(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						gatgaggaaatcaaggtctgg	0.522000													15	169					0	0	0.008871	0	0
F9	2158	broad.mit.edu	37	X	138644074	138644074	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:138644074T>A	ENST00000218099.2	+	8	1237	c.1230T>A	c.(1228-1230)gaT>gaA	p.D410E	F9_ENST00000394090.2_Missense_Mutation_p.D372E	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	410	Peptidase S1.		D -> H (in HEMB; Mechtal).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.D410E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTCAAGGAGATAGTGGGGGAC	0.438000													34	153					0	0	0.004289	0	0
VN1R2	317701	broad.mit.edu	37	19	53762367	53762367	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:53762367G>A	ENST00000341702.3	+	1	823	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	247					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G247R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGGAGATTTGGGATATTGTTC	0.438000													15	113					0	0	0.004007	0	0
GSAP	54103	broad.mit.edu	37	7	76984630	76984630	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:76984630A>G	ENST00000257626.7	-	16	1316	c.1238T>C	c.(1237-1239)tTa>tCa	p.L413S		NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.L413S(1)									AAGCTGTAATAAAGACGACTG	0.507000													16	121					0	0	0.007413	0	0
DBX2	440097	broad.mit.edu	37	12	45417664	45417664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:45417664C>A	ENST00000332700.6	-	3	684	c.513G>T	c.(511-513)atG>atT	p.M171I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	171			M -> V (in dbSNP:rs2731038).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M171I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GGAGAGGCAGCATGCTCTCTT	0.448000													6	68					3.59834e-05	5.08872e-05	0.001168	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157547	26157547	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:26157547C>A	ENST00000325250.1	+	2	632	c.445C>A	c.(445-447)Ctc>Atc	p.L149I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	149	MAGE.						protein binding	p.L149I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAATGAGATCCTCAAGAGAGC	0.418000													3	11					6.4e-05	8.93018e-05	0.004672	1	0
COG2	22796	broad.mit.edu	37	1	230814766	230814766	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:230814766G>A	ENST00000534989.1	+	10	1292	c.957G>A	c.(955-957)aaG>aaA	p.K319K	COG2_ENST00000366668.3_Silent_p.K378K|COG2_ENST00000546013.1_Silent_p.K67K|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Silent_p.K262K|COG2_ENST00000366669.4_Silent_p.K378K			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	378					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.K378K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTTCAATAAGAAGTGGAACT	0.443000													4	71					0	0	0.000248	0	0
NALCN	259232	broad.mit.edu	37	13	102029296	102029296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr13:102029296G>T	ENST00000251127.6	-	5	568	c.487C>A	c.(487-489)Cca>Aca	p.P163T	NALCN_ENST00000376200.5_Missense_Mutation_p.P163T|NALCN_ENST00000376196.3_Missense_Mutation_p.P163T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	163						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P163T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGTCCTTGGCAGTTCAAAT	0.378000													13	54					2.27111e-07	3.54431e-07	0.001368	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167047	140167047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140167047C>A	ENST00000504120.2	+	1	1172	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P391H|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P391H	NM_018900.2	NP_061723.1												p.P391Q(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTAATGCCCCACGTCCCC	0.582000													14	130					3.27435e-08	5.26966e-08	0.002450	1	0
F8	2157	broad.mit.edu	37	X	154065930	154065930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:154065930A>T	ENST00000360256.4	-	26	7198	c.6998T>A	c.(6997-6999)gTg>gAg	p.V2333E	F8_ENST00000330287.6_Missense_Mutation_p.V198E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2333	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.V2333E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATCTGGTGCACCCAACTCTG	0.572000													4	25					0	0	0.000248	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801457	140801457	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140801457C>T	ENST00000398587.2	+	1	696	c.663C>T	c.(661-663)ccC>ccT	p.P221P	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.P221P|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.P221P(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCGATCCCATCCGAAAGG	0.527000													7	77					0	0	0.001984	0	0
WDR36	134430	broad.mit.edu	37	5	110459809	110459809	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:110459809A>G	ENST00000506538.2	+	21	3013	c.2440A>G	c.(2440-2442)Aaa>Gaa	p.K814E	WDR36_ENST00000513710.2_Missense_Mutation_p.K814E	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	814					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.K814E(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTTTAAGTCTAAAGTGGTAAA	0.264000													10	89					0	0	0.000978	0	0
DIP2B	57609	broad.mit.edu	37	12	51108375	51108375	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:51108375A>G	ENST00000301180.5	+	23	2881	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	949						nucleus	catalytic activity|transcription factor binding	p.Q949Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCAAAAACAACCAGGTAATA	0.448000													15	51					0	0	0.004007	0	0
PKP4	8502	broad.mit.edu	37	2	159488326	159488326	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:159488326G>T	ENST00000389757.3	+	8	1340	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PKP4_ENST00000389759.3_Silent_p.V405V	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	405					cell adhesion	desmosome	protein binding	p.V405V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTCTGCCGTGTCTCCCGACT	0.498000										HNSCC(62;0.18)			17	138					1.99824e-07	3.15028e-07	0.004990	1	0
GBP5	115362	broad.mit.edu	37	1	89735201	89735201	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:89735201A>G	ENST00000343435.5	-	3	574	c.38T>C	c.(37-39)cTc>cCc	p.L13P	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.L13P	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	13						plasma membrane	GTP binding|GTPase activity	p.L13P(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTTCTCGATGAGGCACATGGG	0.478000													14	201					0	0	0.003163	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225732	26225732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:26225732G>A	ENST00000360408.1	+	1	350	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R117H(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CATGCCAAACGCGTGACCATC	0.557000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	98					0	0	0.004482	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589341	136589341	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:136589341A>G	ENST00000531224.1	-	10	2608	c.2356T>C	c.(2356-2358)Tac>Cac	p.Y786H	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y784H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y786H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.Y4H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Y613H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y784H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y784H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	786					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.Y786H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCCTGAGTATTCTTTCATT	0.383000													9	174					0	0	0.008291	0	0
RWDD3	25950	broad.mit.edu	37	1	95712169	95712169	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:95712169G>A	ENST00000370202.4	+	3	721	c.645G>A	c.(643-645)atG>atA	p.M215I	RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	215						cytoplasm|nucleus	protein binding	p.M215I(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AAGAGAAAATGATTAGTGTAC	0.313000													7	70					0	0	0.001984	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693457	187693457	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:187693457C>T	ENST00000295131.2	-	9	1195	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	386					apoptosis		zinc ion binding	p.G386R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAACTTGTCCATCAATAGGG	0.348000													4	27					0	0	0.000248	0	0
DPY19L3	147991	broad.mit.edu	37	19	32949374	32949374	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:32949374C>T	ENST00000342179.5	+	12	1496	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	DPY19L3_ENST00000586987.1_Silent_p.I427I|DPY19L3_ENST00000590651.1_Intron|DPY19L3_ENST00000392250.2_Silent_p.I427I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	427						integral to membrane		p.I427I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTCTGTCCATCACAGTGATTG	0.373000													12	203					0	0	0.001368	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11861348	11861348	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:11861348C>T	ENST00000396516.2	-	12	1644	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E483K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	483						nucleus	nucleic acid binding|zinc ion binding	p.E483K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATTTATCTTCAACATTCTTT	0.289000													10	72					0	0	0.006214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318919	79318919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr9:79318919G>T	ENST00000428286.1	-	9	7733	c.6533C>A	c.(6532-6534)aCa>aAa	p.T2178K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T2537K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2537					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.T2537K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCTCTGTACATCTTTC	0.383000													48	255					3.21987e-24	6.21838e-24	0.003610	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251807	25251807	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:25251807T>C	ENST00000328086.7	-	7	3037	c.2234A>G	c.(2233-2235)aAg>aGg	p.K745R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	745					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K745R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTAGGGTCTCTTCCCCACAAA	0.478000													6	86					0	0	0.001168	0	0
SYTL2	54843	broad.mit.edu	37	11	85436161	85436161	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:85436161G>A	ENST00000359152.5	-	1	2910	c.2911C>T	c.(2911-2913)Cca>Tca	p.P971S	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P447S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P447S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.P447S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCACTCCTGGAGGATTTAGG	0.453000													4	64					0	0	0.000248	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	95					0	0	0.004672	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174720	11174720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:11174720C>T	ENST00000390673.2	-	1	499	c.451G>A	c.(451-453)Gag>Aag	p.E151K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.E151K(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACACTCTCTCATCCATGGTT	0.388000													13	115					0	0	0.001368	0	0
FSTL5	56884	broad.mit.edu	37	4	162463837	162463837	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:162463837C>A	ENST00000306100.5	-	9	1460	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	FSTL5_ENST00000379164.4_Missense_Mutation_p.V341F|FSTL5_ENST00000427802.2_Missense_Mutation_p.V341F|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.V341F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	342	Ig-like 2.					extracellular region	calcium ion binding	p.V342F(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCGGATGACTGGAGGAACT	0.393000													19	47					5.03518e-11	8.64373e-11	0.007413	1	0
DHX29	54505	broad.mit.edu	37	5	54573088	54573088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:54573088G>C	ENST00000251636.5	-	13	2280	c.2132C>G	c.(2131-2133)tCa>tGa	p.S711*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	711	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.S711*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGGAAGTCTGACTGGACACT	0.338000													5	197					0	0	0.001168	0	0
AK5	26289	broad.mit.edu	37	1	77763335	77763335	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:77763335G>A	ENST00000344720.5	+	4	1455	c.429G>A	c.(427-429)aaG>aaA	p.K143K	AK5_ENST00000354567.2_Silent_p.K169K|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	169					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.K169K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATTAAGAAAGAAGATCCACA	0.388000													15	64					0	0	0.002450	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906333	13906333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:13906333C>G	ENST00000279593.3	-	3	1137	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	310					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.E310Q(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)	AAGCTGTGCTCAGACAGCATG	0.483000													11	92					0	0	0.000978	0	0
KLHDC2	23588	broad.mit.edu	37	14	50249171	50249171	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:50249171G>C	ENST00000298307.5	+	11	1901	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	KLHDC2_ENST00000557247.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R347T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	347						nucleus	protein binding	p.R347T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GTCCATCACAGAGCTGTAAGT	0.368000													7	88					0	0	0.001984	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182101	57182101	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:57182101G>T	ENST00000504228.1	+	6	2538	c.2433G>T	c.(2431-2433)gtG>gtT	p.V811V	KIAA1211_ENST00000541073.1_Silent_p.V804V|KIAA1211_ENST00000264229.6_Silent_p.V811V			Q6ZU35	K1211_HUMAN	KIAA1211	811								p.V811V(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAGTGGTGGCCCACACAG	0.582000													7	48					8.12818e-05	0.000112628	0.001984	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221462	118221462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:118221462C>A	ENST00000402510.2	-	11	3730	c.3731G>T	c.(3730-3732)aGt>aTt	p.S1244I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1244								p.S1244I(1)|p.S1068I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGATTAGCACTCCCTGAATC	0.463000													7	43					1.06961e-07	1.69928e-07	0.003080	1	0
C3AR1	719	broad.mit.edu	37	12	8212740	8212740	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:8212740G>T	ENST00000307637.4	-	2	245	c.42C>A	c.(40-42)ctC>ctA	p.L14L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	14					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.L14L(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATGGCTGTGAGAGTAGGTCAG	0.428000													12	115					1.5842e-08	2.58321e-08	0.001855	1	0
CDKL3	51265	broad.mit.edu	37	5	133702187	133702187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:133702187C>A	ENST00000521118.1	-	2	142	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000265334.4_Missense_Mutation_p.V10L|CDKL3_ENST00000523832.1_Missense_Mutation_p.V10L|CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.V10L			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	10	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.V10L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTCTCCCACTTTTCCAAGG	0.338000													5	30					0.00198382	0.00260297	0.001984	1	0
LCE3B	353143	broad.mit.edu	37	1	152586476	152586476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:152586476C>A	ENST00000335633.1	+	1	190	c.190C>A	c.(190-192)Cac>Aac	p.H64N		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	64	Cys-rich.				keratinization			p.H64N(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTGCAGGTCCCACCGATGCCG	0.662000													54	70					5.13769e-22	9.83e-22	0.003610	1	0
NEGR1	257194	broad.mit.edu	37	1	72058514	72058514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:72058514C>A	ENST00000357731.4	-	6	1165	c.926G>T	c.(925-927)aGc>aTc	p.S309I	NEGR1_ENST00000306821.3_Missense_Mutation_p.S181I|NEGR1_ENST00000434200.1_Missense_Mutation_p.S263I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	309	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane		p.S309I(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGAGGCAGGCTCGCATTGGT	0.483000													19	147					8.34094e-07	1.26341e-06	0.008871	1	0
PIPSL	266971	broad.mit.edu	37	10	95720197	95720197	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:95720197T>A	ENST00000480546.1	-	0	1100					NR_002319.2																						TGCCACCCCGTCGAGCCTCTC	0.517000													7	66					0	0	0.003080	0	0
BMP2	650	broad.mit.edu	37	20	6759046	6759046	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:6759046C>G	ENST00000378827.4	+	3	1720	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	167					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	p.F167L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ATAGCAGTTTCCATCACCGAA	0.413000													5	64					0	0	0.001168	0	0
ZNF676	163223	broad.mit.edu	37	19	22363099	22363099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:22363099C>A	ENST00000397121.2	-	3	1737	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474*(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGTTTCTCTGCAGCATGA	0.393000													28	107					1.08312e-15	1.96296e-15	0.001786	1	0
SYNJ1	8867	broad.mit.edu	37	21	34017287	34017287	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr21:34017287C>G	ENST00000382499.2	-	26	3537	c.3538G>C	c.(3538-3540)Gaa>Caa	p.E1180Q	SYNJ1_ENST00000322229.7_Missense_Mutation_p.E1141Q|SYNJ1_ENST00000382491.3_Intron|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1180Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1141Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1141	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.E1141Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCTCCAAATTCCTTTCTAGTG	0.343000													7	87					0	0	0.001984	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411383	98411383	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:98411383C>T	ENST00000339364.5	-	5	857	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.L68L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	246	DBB.					cytoplasm|plasma membrane		p.L246L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AATATATCTTCAGAGAAACGT	0.403000													4	34					0	0	0.000248	0	0
AGA	175	broad.mit.edu	37	4	178361559	178361559	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:178361559C>T	ENST00000264595.2	-	2	276	c.149G>A	c.(148-150)gGa>gAa	p.G50E	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	50					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.G50E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GGCAGAGCCTCCAGATGCTAA	0.453000													4	118					0	0	0.000602	0	0
KANK4	163782	broad.mit.edu	37	1	62703976	62703976	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:62703976C>T	ENST00000371153.4	-	10	3339	c.2961G>A	c.(2959-2961)gcG>gcA	p.A987A	KANK4_ENST00000354381.3_Silent_p.A359A|KANK4_ENST00000317477.4_Silent_p.A125A|KANK4_ENST00000371150.1_Silent_p.A343A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).					p.A987A(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						TGCCCTGCTCCGCGTGGGCTC	0.587000													8	65					0	0	0.004482	0	0
DLG3	1741	broad.mit.edu	37	X	69717029	69717029	+	Splice_Site	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:69717029G>A	ENST00000194900.4	+	15	2214		c.e15-1		DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Splice_Site|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000374355.3_Splice_Site			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.?(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TTGGCTTGCAGAGGGAGTGAC	0.507000													4	51					0	0	0.000248	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657674	8657674	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:8657674C>T	ENST00000270328.4	-	12	1826	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	ADAMTS10_ENST00000597188.1_Silent_p.L520L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	520	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L520L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCGTCTGGCACAGCGTGCCCT	0.716000													6	33					0	0	0.001984	0	0
LAG3	3902	broad.mit.edu	37	12	6884556	6884556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:6884556C>A	ENST00000203629.2	+	5	1232	c.899C>A	c.(898-900)cCt>cAt	p.P300H	LAG3_ENST00000441671.2_Missense_Mutation_p.P300H	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	300	Ig-like C2-type 2.					integral to membrane	antigen binding|MHC class II protein binding	p.P300H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGTGGACTCCTCCTGGGGGA	0.642000													17	81					6.94344e-10	1.16922e-09	0.006122	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238643909	238643909	+	Splice_Site	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:238643909A>C	ENST00000308482.9	+	10	558		c.e10-1		LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.?(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTTTGGTCGCAGGCGTCTGTG	0.582000													3	35					0	0	0.004672	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961412	73961412	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:73961412C>T	ENST00000373468.1	-	3	3631	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D994N			Q5QGS0	K2022_HUMAN	KIAA2022	994					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.D994N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCATTGAATCAAAGCTAAAG	0.428000													14	49					0	0	0.001855	0	0
COL6A3	1293	broad.mit.edu	37	2	238283131	238283131	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:238283131G>C	ENST00000295550.4	-	8	4055	c.3603C>G	c.(3601-3603)atC>atG	p.I1201M	COL6A3_ENST00000353578.4_Missense_Mutation_p.I995M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1000M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I995M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I995M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1001M|COL6A3_ENST00000392003.2_Missense_Mutation_p.I794M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I594M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1201	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.I995M(1)|p.I1201M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTCTCAGAGATGACCTGTT	0.612000													6	51					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39783000	39783000	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:39783000C>T	ENST00000564288.1	+	29	4480	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L	MACF1_ENST00000567887.1_Silent_p.L1272L|MACF1_ENST00000539005.1_Silent_p.L1240L|MACF1_ENST00000545844.1_Silent_p.L1240L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Silent_p.L1240L|MACF1_ENST00000372915.3_Silent_p.L1240L|MACF1_ENST00000361689.2_Silent_p.L1240L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1240					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L1240L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCGAAATCTGGATTTGGA	0.532000													7	53					0	0	0.004482	0	0
ZNF683	257101	broad.mit.edu	37	1	26688417	26688417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:26688417G>T	ENST00000436292.1	-	7	1420	c.1300C>A	c.(1300-1302)Cgc>Agc	p.R434S	ZNF683_ENST00000349618.3_Missense_Mutation_p.R414S|ZNF683_ENST00000374204.1_Missense_Mutation_p.R414S|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R414S(1)|p.R419S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGGGTGAAGCGACTCCGGCAG	0.662000													16	60					3.45872e-05	4.94789e-05	0.004007	1	0
ALMS1	7840	broad.mit.edu	37	2	73680958	73680958	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:73680958C>G	ENST00000264448.6	+	8	7412	c.7301C>G	c.(7300-7302)tCt>tGt	p.S2434C	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2392C|ALMS1_ENST00000377715.1_Missense_Mutation_p.S2434C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2434					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.S2434C(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTACCAGAGTCTTTGGAATCA	0.393000													9	75					0	0	0.006214	0	0
PPEF1	5475	broad.mit.edu	37	X	18802079	18802079	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:18802079A>T	ENST00000361511.4	+	12	1319	c.825A>T	c.(823-825)acA>acT	p.T275T	PPEF1_ENST00000544635.1_Silent_p.T210T|PPEF1_ENST00000543630.1_Silent_p.T275T|PPEF1_ENST00000359763.6_Silent_p.T222T|PPEF1_ENST00000349874.5_Silent_p.T275T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	275	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.T275T(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAATCGGTACAATCGTTGACA	0.403000													35	122					0	0	0.003755	0	0
LILRA3	11026	broad.mit.edu	37	19	54804218	54804218	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:54804218G>T	ENST00000391745.1	-	5	323	c.7C>A	c.(7-9)Cga>Aga	p.R3R	LILRA3_ENST00000251390.3_5'UTR					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGAGCCCTCGGTGCTGGCAG	0.577000													14	50					1.3612e-06	2.05678e-06	0.003163	1	0
FAM114A1	92689	broad.mit.edu	37	4	38893400	38893400	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:38893400G>T	ENST00000358869.2	+	4	561	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	129						cytoplasm		p.G129C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATGGGCAGGCTGGGGATC	0.463000													18	61					3.41278e-10	5.77836e-10	0.004990	1	0
DDX17	10521	broad.mit.edu	37	22	38890696	38890696	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr22:38890696T>A	ENST00000396821.3	-	8	1252	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.S306C	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	306	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.S385C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGGTTGGCACTCAACTCCAGA	0.428000													39	100					0	0	0.004289	0	0
DSG3	1830	broad.mit.edu	37	18	29039937	29039937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr18:29039937G>T	ENST00000257189.4	+	6	730	c.647G>T	c.(646-648)gGg>gTg	p.G216V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	216	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G216V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAAACACTGGGGAAGTCCGT	0.433000													8	43					1.12685e-05	1.63473e-05	0.004482	1	0
DNAH9	1770	broad.mit.edu	37	17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:11687720C>T	ENST00000262442.3	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547000													24	143					0	0	0.003330	0	0
CD300LB	124599	broad.mit.edu	37	17	72522083	72522083	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:72522083G>A	ENST00000392621.1	-	2	289	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CD300LB_ENST00000314401.3_Silent_p.C95C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.C95C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TGAGGATCTTGCATGTATCCC	0.547000													34	159					0	0	0.003755	0	0
FKBP10	60681	broad.mit.edu	37	17	39974664	39974664	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:39974664C>T	ENST00000321562.4	+	4	716	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	204	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.Y204Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGACACCTACGTCGGCTCTG	0.592000													7	49					0	0	0.004482	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167048	140167048	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140167048C>A	ENST00000504120.2	+	1	1173	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	PCDHA1_ENST00000378133.3_Silent_p.P391P|PCDHA1_ENST00000394633.3_Silent_p.P391P	NM_018900.2	NP_061723.1												p.P391Q(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAATGCCCCACGTCCCCT	0.582000													15	128					6.31663e-08	1.0087e-07	0.003163	1	0
ITGA1	3672	broad.mit.edu	37	5	52145269	52145269	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:52145269A>T	ENST00000282588.6	+	2	590	c.132A>T	c.(130-132)gaA>gaT	p.E44D		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	44					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.E44D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCCCGGTGGAAGACATGTTTG	0.358000													17	147					0	0	0.004007	0	0
EPHB1	2047	broad.mit.edu	37	3	134880876	134880876	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:134880876A>G	ENST00000398015.3	+	7	1809	c.1439A>G	c.(1438-1440)aAc>aGc	p.N480S	EPHB1_ENST00000493838.1_Missense_Mutation_p.N41S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	480	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.N480S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AATGAGTTCAACTCCTCCATG	0.557000													11	74					0	0	0.000978	0	0
RUFY2	55680	broad.mit.edu	37	10	70154089	70154089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:70154089G>C	ENST00000388768.2	-	5	949	c.623C>G	c.(622-624)tCa>tGa	p.S208*	RUFY2_ENST00000399200.2_Nonsense_Mutation_p.S139*|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.S115*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Nonsense_Mutation_p.S173*|RUFY2_ENST00000342616.4_Nonsense_Mutation_p.S173*	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	222	RUN.					nucleus	metal ion binding	p.S208*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ACTTACTTGTGAGTCTAAATC	0.433000													8	73					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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	60					4.7546e-09	7.85654e-09	0.004007	1	0
MOCOS	55034	broad.mit.edu	37	18	33800118	33800118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr18:33800118G>T	ENST00000261326.5	+	9	1919	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	633					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.R633L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAGGAACCCCGGCTCTGCCTG	0.527000													11	68					3.07112e-06	4.54055e-06	0.000978	1	0
SMNDC1	10285	broad.mit.edu	37	10	112053973	112053973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:112053973C>G	ENST00000369603.4	-	6	855	c.652G>C	c.(652-654)Gat>Cat	p.D218H	SMNDC1_ENST00000369592.1_Missense_Mutation_p.D218H	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	218					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding	p.D218H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		ATAGGTTTATCAGCAATTCCA	0.388000													16	100					0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94041456	94041456	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:94041456T>C	ENST00000553484.1	+	17	2277	c.2123T>C	c.(2122-2124)tTt>tCt	p.F708S	UNC79_ENST00000393151.2_Missense_Mutation_p.F708S|UNC79_ENST00000555664.1_Missense_Mutation_p.F708S|UNC79_ENST00000256339.4_Missense_Mutation_p.F531S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	708						integral to membrane		p.F708S(1)|p.F531S(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						ATAAGTATGTTTTCTGATGGA	0.368000													5	46					0	0	0.000602	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476113	89476113	+	RNA	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:89476113C>A	ENST00000484817.1	-	0	88																											CACAATATCCCCACTGGATCC	0.423000													19	109					1.40151e-16	2.57778e-16	0.001523	1	0
FAM154A	158297	broad.mit.edu	37	9	18950803	18950803	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr9:18950803C>T	ENST00000380534.4	-	2	450	c.171G>A	c.(169-171)cgG>cgA	p.R57R	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000380530.1_Silent_p.R57R	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	57								p.R57R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTGGTACTCCCGCCTTGGCT	0.443000													28	115					0	0	0.008361	0	0
PRLHR	2834	broad.mit.edu	37	10	120353949	120353949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:120353949G>T	ENST00000239032.2	-	2	946	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	PRLHR_ENST00000369169.1_Missense_Mutation_p.R270S	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	270					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.R270S(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGCCGAGCGCGGTCCCAGTCG	0.677000													7	28					8.12818e-05	0.000112628	0.001984	1	0
MMP12	4321	broad.mit.edu	37	11	102742618	102742618	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:102742618G>T	ENST00000532855.1	-	0	511							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q139K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTCCATACTTGGAAAGCTTTC	0.408000													11	48					7.03913e-09	1.15696e-08	0.001368	1	0
WDR63	126820	broad.mit.edu	37	1	85595688	85595688	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:85595688C>A	ENST00000294664.6	+	22	2605	c.2425C>A	c.(2425-2427)Cac>Aac	p.H809N	WDR63_ENST00000326813.8_Missense_Mutation_p.H770N|WDR63_ENST00000370596.1_Missense_Mutation_p.H770N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	809								p.H809N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAGTGTCAACCACTATTTTGA	0.418000													38	247					9.85521e-28	1.9213e-27	0.006230	1	0
MS4A5	64232	broad.mit.edu	37	11	60201330	60201330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:60201330C>A	ENST00000300190.2	+	4	518	c.432C>A	c.(430-432)aaC>aaA	p.N144K	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	144						integral to membrane	receptor activity	p.N144K(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TAGATCAAAACTACATTTGTG	0.368000													9	100					1.12685e-05	1.63473e-05	0.004482	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100801810	100801810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:100801810C>T	ENST00000268070.4	-	6	1010	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	302	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R302Q(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)		CTCCAGGGACCGCTCACCATG	0.547000													4	23					0	0	0.000248	0	0
SRPR	6734	broad.mit.edu	37	11	126134327	126134327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:126134327C>T	ENST00000332118.6	-	12	1787	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	SRPR_ENST00000532259.1_Missense_Mutation_p.D517N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	545					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.D545N(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGCACCAAATCAGGTGTATTG	0.542000													9	60					0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494959	1494959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:1494959C>A	ENST00000283415.3	-	3	481	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	117					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.V117L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CGCCCCTTCACGGCCACCCGG	0.672000													6	61					0.00116845	0.00155625	0.001168	1	0
HERC4	26091	broad.mit.edu	37	10	69714383	69714383	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:69714383T>A	ENST00000395198.3	-	20	2577	c.2330A>T	c.(2329-2331)gAa>gTa	p.E777V	HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.E777V|HERC4_ENST00000373700.4_Missense_Mutation_p.E769V|HERC4_ENST00000277817.6_Missense_Mutation_p.E667V|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	777	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.E777V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCTGGAATCTTCATAATACCT	0.378000													13	105					0	0	0.001855	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757886	62757886	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:62757886C>A	ENST00000281156.4	-	3	511	c.233G>T	c.(232-234)gGg>gTg	p.G78V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	78	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.G78V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCAATTTCCCCACAAAATT	0.363000													10	69					0.000442599	0.000597219	0.006214	1	0
RNF17	56163	broad.mit.edu	37	13	25367307	25367307	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr13:25367307A>G	ENST00000255324.5	+	10	1115	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.S356G|RNF17_ENST00000381921.1_Missense_Mutation_p.S355G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	355					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.S355G(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTCCTAACCAGTGAAGCACC	0.393000													34	176					0	0	0.002836	0	0
OTOGL	283310	broad.mit.edu	37	12	80661057	80661057	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:80661057G>T	ENST00000458043.2	+	21	2394	c.2388G>T	c.(2386-2388)agG>agT	p.R796S	OTOGL_ENST00000547103.1_Missense_Mutation_p.R796S	NM_173591.3	NP_775862.3			otogelin-like									p.R796S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTCATTATAGGGGCAGTGTTT	0.388000													5	11					1.23904e-05	1.78908e-05	0.000602	1	0
PXDN	7837	broad.mit.edu	37	2	1653262	1653262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:1653262C>A	ENST00000252804.4	-	17	2340	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	764					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.E764*(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCAGGCGCTCGAAGGCGGTC	0.632000													27	130					5.77227e-19	1.09425e-18	0.008361	1	0
MCAM	4162	broad.mit.edu	37	11	119183624	119183624	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:119183624T>A	ENST00000392814.1	-	1	1171	c.442A>T	c.(442-444)Agt>Tgt	p.S148C	MCAM_ENST00000264036.4_Missense_Mutation_p.S199C			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	199	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.S199C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TACAAACCACTCGACTCCACA	0.567000													15	71					0	0	0.004007	0	0
GPX6	257202	broad.mit.edu	37	6	28483474	28483474	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:28483474A>G	ENST00000361902.1	-	1	96	c.47T>C	c.(46-48)gTt>gCt	p.V16A	GPX6_ENST00000474923.1_Missense_Mutation_p.V16A|GPX6_ENST00000483058.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	16					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.V16A(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCAAAGCCAACCAGGAAAAA	0.542000													5	36					0	0	0.001984	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220361	130220361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:130220361C>G	ENST00000276211.5	+	10	1685	c.1340C>G	c.(1339-1341)gCa>gGa	p.A447G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A435G|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A311G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	447					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A447G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCCGGAAGCACTTGATTTT	0.483000													34	91					0	0	0.003755	0	0
WNT7A	7476	broad.mit.edu	37	3	13896097	13896097	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:13896097C>A	ENST00000285018.4	-	3	806	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	168					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.D168Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCCGGGCATCCACAAAGACC	0.622000													24	130					4.26978e-12	7.39138e-12	0.003330	1	0
MYO18A	399687	broad.mit.edu	37	17	27445428	27445428	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:27445428C>G	ENST00000527372.1	-	9	2040	c.1860G>C	c.(1858-1860)gaG>gaC	p.E620D	MYO18A_ENST00000531253.1_Missense_Mutation_p.E620D|MYO18A_ENST00000533112.1_Missense_Mutation_p.E620D|MYO18A_ENST00000354329.4_Missense_Mutation_p.E620D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	620	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E620D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACACATTGTTCTCTGCCAAGT	0.597000													4	21					0	0	0.000602	0	0
RAB39A	54734	broad.mit.edu	37	11	107832852	107832852	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:107832852A>T	ENST00000320578.2	+	2	474	c.408A>T	c.(406-408)caA>caT	p.Q136H		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	136					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q136H(1)									CACAACGTCAAGTTACAAGGG	0.378000													17	52					0	0	0.004990	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064946	5064946	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:5064946A>G	ENST00000251170.7	+	16	2246	c.2066A>G	c.(2065-2067)cAt>cGt	p.H689R	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	689	Ser-rich.					integral to membrane|intracellular	transporter activity	p.H689R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCCAGTCTCATAGCAGCTCC	0.642000													13	64					0	0	0.002450	0	0
SGMS2	166929	broad.mit.edu	37	4	108817064	108817064	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:108817064G>T	ENST00000394684.4	+	3	912	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	SGMS2_ENST00000394686.3_Missense_Mutation_p.D119Y|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.D119Y|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	119					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.D119Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CAAGTTTTTTGATTACATTGA	0.423000													9	79					0.000274275	0.000373352	0.004482	1	0
TENM2	57451	broad.mit.edu	37	5	167645439	167645439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:167645439G>T	ENST00000519204.1	+	22	4298	c.4180G>T	c.(4180-4182)Ggg>Tgg	p.G1394W	TENM2_ENST00000545108.1_Missense_Mutation_p.G1514W|TENM2_ENST00000403607.2_Missense_Mutation_p.G1339W|TENM2_ENST00000518659.1_Missense_Mutation_p.G1515W|TENM2_ENST00000520394.1_Missense_Mutation_p.G1276W					teneurin transmembrane protein 2									p.G1348W(1)|p.G1394W(1)|p.G1515W(1)									CCTTTTAGCTGGGGCAGCCTC	0.498000													39	173					4.14481e-20	7.90584e-20	0.006230	1	0
SRPX2	27286	broad.mit.edu	37	X	99920554	99920554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:99920554G>T	ENST00000373004.3	+	7	1109	c.681G>T	c.(679-681)gaG>gaT	p.E227D		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	227	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.E227D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGGCCCTGAGCCTGGCTCTC	0.527000													9	122					1.12685e-05	1.63473e-05	0.004482	1	0
CCDC83	220047	broad.mit.edu	37	11	85593661	85593661	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:85593661G>A	ENST00000280245.4	+	4	798	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.E53K|CCDC83_ENST00000342404.3_Missense_Mutation_p.E96K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	96								p.E96K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAGGATGTTGAAGAAGCGAT	0.403000													17	89					0	0	0.004007	0	0
CCDC158	339965	broad.mit.edu	37	4	77300479	77300479	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:77300479A>G	ENST00000388914.3	-	8	1145	c.993T>C	c.(991-993)tcT>tcC	p.S331S	CCDC158_ENST00000434846.2_Silent_p.S331S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	331								p.S331S(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						CCCTTAATTCAGAACGTAGCT	0.383000													3	81					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152326042	152326042	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:152326042C>G	ENST00000388718.5	-	3	4292	c.4220G>C	c.(4219-4221)gGa>gCa	p.G1407A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1407							calcium ion binding|structural molecule activity	p.G1407A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.527000													33	402					0	0	0.001786	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690269	26690269	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr22:26690269G>A	ENST00000529632.2	+	3	1043	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	SEZ6L_ENST00000248933.6_Missense_Mutation_p.V283M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V283M|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V56M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V56M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V283M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V283M	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	283	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.V283M(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						TCTCTGCAGTGTGAGCTTCTC	0.517000													24	128					0	0	0.005443	0	0
OR2D3	120775	broad.mit.edu	37	11	6942680	6942680	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:6942680A>G	ENST00000317834.3	+	1	476	c.448A>G	c.(448-450)Acc>Gcc	p.T150A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T150A(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTACTACTCTACCATCATGAC	0.512000													29	114					0	0	0.006320	0	0
PNKD	25953	broad.mit.edu	37	2	219206749	219206749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:219206749C>G	ENST00000273077.4	+	7	714	c.663C>G	c.(661-663)atC>atG	p.I221M	PNKD_ENST00000258362.3_Missense_Mutation_p.I197M|PNKD_ENST00000436005.2_Missense_Mutation_p.I161M|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	221						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCAGATCCGGGCCCTGG	0.602000													7	58					0	0	0.003080	0	0
SORCS3	22986	broad.mit.edu	37	10	106960956	106960956	+	Missense_Mutation	SNP	C	C	A	rs145883987		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:106960956C>A	ENST00000369701.3	+	16	2433	c.2206C>A	c.(2206-2208)Cac>Aac	p.H736N	SORCS3_ENST00000369699.4_Missense_Mutation_p.H22N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	736						integral to membrane	neuropeptide receptor activity	p.H736N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGGCCGAGACCACTCAGGATC	0.488000													9	103					7.48243e-07	1.14459e-06	0.006214	1	0
LMAN1	3998	broad.mit.edu	37	18	57013159	57013159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr18:57013159C>A	ENST00000251047.5	-	8	1664	c.947G>T	c.(946-948)gGg>gTg	p.G316V		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	316					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.G316V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACCAGGCTGCCCTTGGAGGTC	0.488000													22	70					6.44725e-10	1.08863e-09	0.002299	1	0
F9	2158	broad.mit.edu	37	X	138644077	138644077	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:138644077T>G	ENST00000218099.2	+	8	1240	c.1233T>G	c.(1231-1233)agT>agG	p.S411R	F9_ENST00000394090.2_Missense_Mutation_p.S373R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	411	Peptidase S1.		S -> G (in HEMB; Varel).|S -> I (in HEMB; Schmallenberg).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.S411R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAGGAGATAGTGGGGGACCCC	0.433000													34	150					0	0	0.004289	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74663994	74663994	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:74663994C>T	ENST00000370895.1	+	1	67	c.32C>T	c.(31-33)tCg>tTg	p.S11L	FPGT_ENST00000482102.2_Missense_Mutation_p.S11L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S11L|FPGT_ENST00000370894.4_Missense_Mutation_p.S11L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S11L|FPGT_ENST00000467578.2_Missense_Mutation_p.S11L|FPGT_ENST00000370898.2_Missense_Mutation_p.S11L|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S11L|FPGT_ENST00000524915.1_Missense_Mutation_p.S11L|TNNI3K_ENST00000370893.1_Missense_Mutation_p.S11L|FPGT_ENST00000534056.1_Missense_Mutation_p.S11L			Q59H18	TNI3K_HUMAN		0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.S11L(1)									CCGGAAGTATCGCTGCGAGAA	0.642000													11	30					0	0	0.000978	0	0
MAPK14	1432	broad.mit.edu	37	6	36075268	36075268	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:36075268C>G	ENST00000229795.3	+	11	1325	c.878C>G	c.(877-879)tCa>tGa	p.S293*	MAPK14_ENST00000468133.1_Nonsense_Mutation_p.S216*|MAPK14_ENST00000229794.4_Nonsense_Mutation_p.S293*|MAPK14_ENST00000310795.4_Missense_Mutation_p.Q267E	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	293	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	p.S293*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTATTGGACTCAGATAAGAGA	0.438000													7	151					0	0	0.003080	0	0
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428000													22	377					0	0	0.002299	0	0
KALRN	8997	broad.mit.edu	37	3	124201673	124201673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:124201673G>A	ENST00000360013.3	+	28	4331	c.4204G>A	c.(4204-4206)Ggt>Agt	p.G1402S	KALRN_ENST00000460856.1_Missense_Mutation_p.G1393S|KALRN_ENST00000240874.3_Missense_Mutation_p.G1402S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1402	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.G1402S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGCGGCATGGTCTGGCCAA	0.512000													23	117					0	0	0.002780	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:120510124G>C	ENST00000256646.2	-	8	1604	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	462	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.S462*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	140					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43820365	43820365	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:43820365C>A	ENST00000382031.1	+	5	7439	c.7408C>A	c.(7408-7410)Cag>Aag	p.Q2470K	MAP1A_ENST00000300231.5_Missense_Mutation_p.Q2232K|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q2232K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2232						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.Q2232K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCACTGCCCCAGCTCCCATC	0.637000													15	97					1.52009e-12	2.6688e-12	0.003163	1	0
ZNF121	7675	broad.mit.edu	37	19	9677452	9677452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:9677452C>A	ENST00000586602.1	-	6	753	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	ZNF121_ENST00000320451.6_Nonsense_Mutation_p.E113*			P58317	ZN121_HUMAN	zinc finger protein 121	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E113*(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGAGTGTTTCTCCATTGTGA	0.413000													12	56					4.3838e-07	6.78995e-07	0.001855	1	0
SUGP2	10147	broad.mit.edu	37	19	19121141	19121141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:19121141C>G	ENST00000601879.1	-	5	2158	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	SUGP2_ENST00000600377.1_Missense_Mutation_p.D635H|SUGP2_ENST00000337018.6_Missense_Mutation_p.D621H|SUGP2_ENST00000456085.2_Missense_Mutation_p.D390H|SUGP2_ENST00000452918.2_Missense_Mutation_p.D621H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	621					mRNA processing|RNA splicing	nucleus	RNA binding	p.D621H(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTATTTTCATCAGACAAAAAC	0.438000													23	207					0	0	0.002780	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708736	94708736	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:94708736C>T	ENST00000304338.3	+	11	1411	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	419						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.C419*(1)|p.C419C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGCTATTTGCTTTTATGAAG	0.323000													9	110					0	0	0.004482	0	0
ITGA2	3673	broad.mit.edu	37	5	52369034	52369034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:52369034C>A	ENST00000296585.5	+	20	2659	c.2516C>A	c.(2515-2517)aCt>aAt	p.T839N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	839					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.T839N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATACAACACTGGAATTGTT	0.363000													23	391					7.41877e-09	1.21613e-08	0.001882	1	0
MERTK	10461	broad.mit.edu	37	2	112786085	112786085	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:112786085G>A	ENST00000295408.4	+	19	2901	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	MERTK_ENST00000409780.1_Missense_Mutation_p.E706K|MERTK_ENST00000421804.2_Missense_Mutation_p.E882K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	882					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E882K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGAGAGCTCTGAGGGCCTGGC	0.527000													7	156					0	0	0.001984	0	0
GRK7	131890	broad.mit.edu	37	3	141535733	141535733	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:141535733T>C	ENST00000264952.2	+	4	1640	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	501	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.D501D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGACAAAGATAAGCAGTTCT	0.443000													27	152					0	0	0.007291	0	0
NEK10	152110	broad.mit.edu	37	3	27332233	27332233	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:27332233T>G	ENST00000429845.2	-	20	1980	c.1618A>C	c.(1618-1620)Agt>Cgt	p.S540R	NEK10_ENST00000357467.2_Intron|NEK10_ENST00000341435.5_Missense_Mutation_p.S540R			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	540	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S540R(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTGACCACTATGCTTTCTA	0.348000													4	50					0	0	0.001984	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554442	140554442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140554442G>T	ENST00000231137.3	+	1	2200	c.2026G>T	c.(2026-2028)Gcg>Tcg	p.A676S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A676S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCGGAGGCGGCCCCGGA	0.692000													19	184					1.56452e-12	2.73903e-12	0.007413	1	0
DMXL2	23312	broad.mit.edu	37	15	51743895	51743895	+	Splice_Site	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:51743895C>G	ENST00000251076.5	-	41	8918		c.e41-1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAACATTTCTTTTAAAGAA	0.318000													10	38					0	0	0.002450	0	0
NUAK1	9891	broad.mit.edu	37	12	106461516	106461516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:106461516C>A	ENST00000261402.2	-	7	2429	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	350							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K350N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCCAGGCCCTTCATTTTGG	0.567000													12	77					5.50884e-06	8.08661e-06	0.001368	1	0
ADCY8	114	broad.mit.edu	37	8	131826459	131826459	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:131826459G>T	ENST00000286355.5	-	14	4861	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ADCY8_ENST00000377928.3_Silent_p.A792A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	923					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A923A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCCAGGCGGGCTGTGTACT	0.507000										HNSCC(32;0.087)			29	69					2.12542e-12	3.71047e-12	0.006320	1	0
LIG1	3978	broad.mit.edu	37	19	48665538	48665538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:48665538C>A	ENST00000263274.7	-	3	507	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Nonsense_Mutation_p.E30*|LIG1_ENST00000427526.2_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	30					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.E30*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGCTCCGTCTCTCTGCTGCTA	0.458000								Nucleotide excision repair (NER)					16	209					3.41278e-10	5.77836e-10	0.004990	1	0
WDR13	64743	broad.mit.edu	37	X	48458017	48458017	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:48458017T>G	ENST00000218056.5	+	4	940	c.435T>G	c.(433-435)agT>agG	p.S145R	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	145						cytoplasm|nucleus		p.S145R(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CAGAGGCAAGTCGGGCCATGG	0.607000													7	99					0	0	0.001984	0	0
ITGAX	3687	broad.mit.edu	37	16	31373976	31373976	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:31373976G>T	ENST00000268296.4	+	12	1382	c.1261G>T	c.(1261-1263)Gtc>Ttc	p.V421F	ITGAX_ENST00000562522.1_Missense_Mutation_p.V421F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	421					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.V421F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCAGAGCCTGGTCCTGGGGGC	0.657000													5	20					3.59834e-05	5.08872e-05	0.001168	1	0
TLR1	7096	broad.mit.edu	37	4	38799759	38799759	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:38799759A>G	ENST00000308979.2	-	4	967	c.694T>C	c.(694-696)Tac>Cac	p.Y232H	TLR1_ENST00000502213.2_Missense_Mutation_p.Y232H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	232					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	p.Y232H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTAGGAAGTAAGAACATTTG	0.313000													4	60					0	0	0.000248	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378186	149378186	+	RNA	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:149378186C>T	ENST00000415338.1	-	0	1061																											TGTCCACTTGCTCCCCGTGAG	0.537000													19	39					0	0	0.006122	0	0
NUP107	57122	broad.mit.edu	37	12	69084516	69084516	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:69084516A>T	ENST00000229179.4	+	4	625	c.293A>T	c.(292-294)aAt>aTt	p.N98I	NUP107_ENST00000539906.1_Missense_Mutation_p.N69I|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	98					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.N98I(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCTTTGGAAATCTCTCCATG	0.493000													17	83					0	0	0.004007	0	0
BRINP3	339479	broad.mit.edu	37	1	190067362	190067362	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:190067362T>A	ENST00000367462.3	-	8	2318	c.2087A>T	c.(2086-2088)cAg>cTg	p.Q696L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.Q594L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		696						extracellular region		p.Q696L(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)					TGCTGAATCCTGGGATCCCTG	0.463000													45	99					0	0	0.002222	0	0
GABRG3	2567	broad.mit.edu	37	15	27222202	27222202	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:27222202G>T	ENST00000333743.6	+	2	361	c.107G>T	c.(106-108)tGg>tTg	p.W36L	GABRG3_ENST00000555083.1_Missense_Mutation_p.W36L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	36					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W36L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACCAAAAGTGGGTCTTGGCT	0.423000													18	66					3.41278e-10	5.77836e-10	0.004990	1	0
PSEN2	5664	broad.mit.edu	37	1	227068353	227068353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:227068353G>T	ENST00000366782.1	+	3	507	c.7G>T	c.(7-9)Gca>Tca	p.A3S	PSEN2_ENST00000366783.3_Intron|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000391872.2_Missense_Mutation_p.A3S|PSEN2_ENST00000422240.2_Intron			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	0					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGAGATGTTGGCAGGGACTGT	0.537000													16	211					2.94398e-08	4.76278e-08	0.007413	1	0
ZNF559	84527	broad.mit.edu	37	19	9452607	9452607	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:9452607A>T	ENST00000393883.2	+	6	1128	c.480A>T	c.(478-480)ctA>ctT	p.L160L	ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.L80L|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.L224L|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Silent_p.L160L	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L160L(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCAACATCTACATCTTGTTT	0.373000													27	134					0	0	0.005443	0	0
NCAN	1463	broad.mit.edu	37	19	19338336	19338336	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:19338336T>A	ENST00000252575.5	+	8	1950	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q	NCAN_ENST00000538881.1_Missense_Mutation_p.L87Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	636					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.L650Q(1)|p.L636Q(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGGCCATGCTGCGTGGTCCC	0.637000													14	56					0	0	0.003163	0	0
PKHD1	5314	broad.mit.edu	37	6	51890383	51890383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:51890383C>A	ENST00000371117.3	-	32	4500	c.4225G>T	c.(4225-4227)Gtg>Ttg	p.V1409L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1409L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1409	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1409L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCCCCTCACAGTAAGTATG	0.498000													29	117					8.58068e-18	1.61181e-17	0.007291	1	0
AACS	65985	broad.mit.edu	37	12	125576036	125576036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:125576036C>G	ENST00000316519.6	+	5	743	c.537C>G	c.(535-537)atC>atG	p.I179M	AACS_ENST00000261686.6_Missense_Mutation_p.I179M	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	179					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.I179M(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTGGTGCCATCTGGAGCTCCA	0.587000													8	38					0	0	0.006214	0	0
CEP350	9857	broad.mit.edu	37	1	179989900	179989900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:179989900G>T	ENST00000367607.3	+	12	3409	c.2991G>T	c.(2989-2991)gaG>gaT	p.E997D		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	997						centrosome|nucleus|spindle		p.E997D(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGAAGAAGAGGGAGACCAGG	0.418000													26	160					1.55469e-16	2.85104e-16	0.003330	1	0
ICAM1	3383	broad.mit.edu	37	19	10395694	10395694	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:10395694G>C	ENST00000264832.3	+	6	1741	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.V250V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	472					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.V472V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGGTGACCGTGAATGTGCTCT	0.627000													4	42					0	0	0.000602	0	0
UBBP4	23666	broad.mit.edu	37	17	21731267	21731267	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:21731267C>G	ENST00000584755.1	+	2	966	c.569C>G	c.(568-570)cCg>cGg	p.P190R	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.P190R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCGATCAGCAGA	0.547000													28	98					0	0	0.005443	0	0
RABEP2	79874	broad.mit.edu	37	16	28926016	28926016	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:28926016C>T	ENST00000358201.4	-	4	1108	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RABEP2_ENST00000544477.1_Missense_Mutation_p.E103K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E174K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	174					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	p.E174K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						ATCAGCTCCTCGGCCCTCAGC	0.677000													13	127					0	0	0.004990	0	0
C3	718	broad.mit.edu	37	19	6710817	6710817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:6710817C>G	ENST00000245907.6	-	13	1611	c.1519G>C	c.(1519-1521)Gtg>Ctg	p.V507L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	507					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.V507L(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGCTCTCGCACCTGGCGTCCC	0.652000													15	46					0	0	0.007413	0	0
SDE2	163859	broad.mit.edu	37	1	226187006	226187006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:226187006T>A	ENST00000272091.7	-	1	26	c.8A>T	c.(7-9)gAg>gTg	p.E3V	SDE2_ENST00000366817.1_5'UTR	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.E3V(2)									CGCCGCGGCCTCCGCCATGTC	0.677000													12	44					0	0	0.001368	0	0
CHD8	57680	broad.mit.edu	37	14	21860803	21860803	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:21860803G>C	ENST00000399982.2	-	33	6698	c.6634C>G	c.(6634-6636)Cca>Gca	p.P2212A	CHD8_ENST00000557364.1_Missense_Mutation_p.P2212A|CHD8_ENST00000430710.3_Missense_Mutation_p.P1933A	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2212					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.P2212A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGGGACTGGAGAGTCACCA	0.552000													14	140					0	0	0.002450	0	0
GRID2	2895	broad.mit.edu	37	4	94690553	94690553	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:94690553G>A	ENST00000282020.4	+	15	2811	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	GRID2_ENST00000510992.1_Silent_p.L756L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	851					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.L851L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAGCCATGCTGGAGACGTGGT	0.483000													12	83					0	0	0.001368	0	0
GP5	2814	broad.mit.edu	37	3	194118856	194118856	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:194118856G>C	ENST00000401815.1	-	1	227	c.156C>G	c.(154-156)ctC>ctG	p.L52L	GP5_ENST00000323007.3_Silent_p.L52L			P40197	GPV_HUMAN	glycoprotein V (platelet)	52					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.L52L(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGATGTGCGTGAGGTTGGTGG	0.677000													12	70					0	0	0.001368	0	0
SLC16A1	6566	broad.mit.edu	37	1	113456568	113456568	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:113456568G>C	ENST00000538576.1	-	5	2279	c.1448C>G	c.(1447-1449)tCt>tGt	p.S483C	SLC16A1_ENST00000369626.3_Missense_Mutation_p.S483C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	483					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.S483C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTGGTCCGGAGATTCTGCTGC	0.468000													36	205					0	0	0.005524	0	0
MSRB3	253827	broad.mit.edu	37	12	65702399	65702399	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:65702399C>G	ENST00000308259.5	+	2	314	c.40C>G	c.(40-42)Cag>Gag	p.Q14E	MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000535664.1_Missense_Mutation_p.Q14E|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000538725.1_3'UTR	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	0					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.Q14E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GACAAAGAGCCAGCCAGTAGC	0.512000													11	106					0	0	0.000978	0	0
KCNN2	3781	broad.mit.edu	37	5	113698885	113698885	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:113698885C>T	ENST00000512097.3	+	2	1431	c.413C>T	c.(412-414)gCg>gTg	p.A138V	KCNN2_ENST00000264773.3_Missense_Mutation_p.A138V|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	138						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A138V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AGCGACTACGCGCTCATCTTC	0.597000													4	25					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179544735	179544735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:179544735C>T	ENST00000589042.1	-	140	33690	c.33466G>A	c.(33466-33468)Gag>Aag	p.E11156K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9912K|TTN_ENST00000591111.1_Missense_Mutation_p.E10839K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10839	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E9912K(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)			ACAACTTCCTCTTCAAAGGCA	0.373000													10	72					0	0	0.000978	0	0
SSPO	23145	broad.mit.edu	37	7	149492429	149492429	+	RNA	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:149492429A>T	ENST00000378016.2	+	0	6318							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTCAGGGATGGCACGCTG	0.657000													4	31					0	0	0.000248	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688837	65688837	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:65688837A>T	ENST00000335257.6	+	9	1179	c.832A>T	c.(832-834)Acc>Tcc	p.T278S	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.T278S			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	278					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.T278S(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCTCCATCCACCCCTCTCTC	0.547000													27	137					0	0	0.004656	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716499	142716499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:142716499C>G	ENST00000381779.4	-	2	2651	c.2426G>C	c.(2425-2427)aGt>aCt	p.S809T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S809T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S809T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	809						integral to membrane		p.S809T(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAATACTCACTCTTCCTTTG	0.423000													12	132					0	0	0.000978	0	0
HYAL4	23553	broad.mit.edu	37	7	123508376	123508376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:123508376G>T	ENST00000223026.4	+	3	687	c.49G>T	c.(49-51)Gta>Tta	p.V17L	HYAL4_ENST00000476325.1_Missense_Mutation_p.V17L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	17					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.V17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTTCAACCAGTACATCTCAC	0.343000													24	157					6.36457e-07	9.78435e-07	0.003954	1	0
GPR101	83550	broad.mit.edu	37	X	136113029	136113029	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:136113029C>T	ENST00000298110.1	-	1	804	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	269						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E269K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCCTTGACCTCACCTTCATGC	0.572000													29	263					0	0	0.006320	0	0
MYH2	4620	broad.mit.edu	37	17	10448670	10448670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:10448670C>A	ENST00000245503.5	-	5	882	c.498G>T	c.(496-498)atG>atT	p.M166I	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.M166I|MYH2_ENST00000397183.2_Missense_Mutation_p.M166I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	166	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M166I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCAGTCAGCATGAACTGAT	0.522000													44	245					8.0703e-11	1.38156e-10	0.003610	1	0
ASAP3	55616	broad.mit.edu	37	1	23759638	23759638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:23759638G>A	ENST00000336689.3	-	22	2299	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	ASAP3_ENST00000437606.2_Missense_Mutation_p.P743L|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.P256L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	752					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.P752L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAAGGGCGGGGGACAGTCCTC	0.582000													8	134					0	0	0.004482	0	0
PXDN	7837	broad.mit.edu	37	2	1652789	1652789	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:1652789A>T	ENST00000252804.4	-	17	2813	c.2763T>A	c.(2761-2763)caT>caA	p.H921Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	921					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H921Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGGGCCTCATGCTCCGTGC	0.672000													9	38					0	0	0.000978	0	0
BCL9L	283149	broad.mit.edu	37	11	118779239	118779239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:118779239C>A	ENST00000334801.3	-	2	1116	c.152G>T	c.(151-153)gGg>gTg	p.G51V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	51					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.G51V(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCCGCCATTCCCTGTCTTGCC	0.642000													25	166					2.14196e-07	3.36827e-07	0.007291	1	0
HCN4	10021	broad.mit.edu	37	15	73617680	73617680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:73617680C>A	ENST00000261917.3	-	5	2689	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	566					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.E566*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ATGCTCTCCTCGTCGAACATC	0.667000													18	77					6.49762e-13	1.14403e-12	0.006122	1	0
IFI44	10561	broad.mit.edu	37	1	79128523	79128523	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:79128523T>A	ENST00000370747.4	+	8	1333	c.1248T>A	c.(1246-1248)gcT>gcA	p.A416A	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	416					response to virus	cytoplasm		p.A416A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGCTATGGGCTGCAGATGACT	0.458000													17	110					0	0	0.007413	0	0
KRT3	3850	broad.mit.edu	37	12	53189644	53189644	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:53189644G>C	ENST00000417996.2	-	1	257	c.183C>G	c.(181-183)ggC>ggG	p.G61G	KRT3_ENST00000309505.3_Silent_p.G61G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.G61G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTTGTTGCCGCCCAGGTTGT	0.667000													13	105					0	0	0.001855	0	0
HDX	139324	broad.mit.edu	37	X	83599336	83599336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:83599336C>T	ENST00000297977.5	-	6	1693	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	HDX_ENST00000506585.2_Missense_Mutation_p.E470K|HDX_ENST00000373177.2_Missense_Mutation_p.E528K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	528						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E528K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCCCAGCTTCCTCTCCTGGT	0.463000													4	95					0	0	0.000248	0	0
GABRG2	2566	broad.mit.edu	37	5	161524754	161524754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:161524754G>T	ENST00000356592.3	+	4	898	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GABRG2_ENST00000393933.4_Missense_Mutation_p.W51C|GABRG2_ENST00000414552.2_Missense_Mutation_p.W146C|GABRG2_ENST00000361925.4_Missense_Mutation_p.W146C	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	146					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.W146C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGAAAATCTGGATTCCAGACA	0.423000													19	68					3.57192e-18	6.75061e-18	0.006122	1	0
CTR9	9646	broad.mit.edu	37	11	10781721	10781721	+	Splice_Site	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:10781721G>A	ENST00000361367.2	+	6	1020	c.592_splice	c.e6-1	p.A198_splice		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	198					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		p.A198A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTTATAGCGGAAGTTCGTT	0.368000													5	65					0	0	0.000602	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306690	140306690	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140306690C>A	ENST00000253807.2	+	1	213	c.213C>A	c.(211-213)ccC>ccA	p.P71P	PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P71P|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2												p.P71P(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATCTACCCAGCGGCAATT	0.637000													8	50					0.00307968	0.00402377	0.003080	1	0
RAB39B	116442	broad.mit.edu	37	X	154490325	154490325	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:154490325G>A	ENST00000369454.3	-	2	705	c.405C>T	c.(403-405)cgC>cgT	p.R135R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.R135R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGCCTCGTGGCGAGTCACTT	0.493000													20	183					0	0	0.008871	0	0
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:33954863G>T	ENST00000389232.4	+	35	5202	c.5132G>T	c.(5131-5133)cGa>cTa	p.R1711L	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1711L(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)		GCCCACATCCGAGACCCTGTA	0.562000													9	55					0.00448238	0.00581956	0.004482	1	0
DCLK3	85443	broad.mit.edu	37	3	36779105	36779105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:36779105G>A	ENST00000416516.2	-	2	1536	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	349						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.A349V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACATTGGCGGCAATGATGCC	0.582000													4	97					0	0	0.000248	0	0
INPP4B	8821	broad.mit.edu	37	4	143045852	143045852	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:143045852C>T	ENST00000513000.1	-	20	2215	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	INPP4B_ENST00000308502.4_Silent_p.V594V|INPP4B_ENST00000509777.1_Silent_p.V594V|INPP4B_ENST00000262992.4_Silent_p.V594V|INPP4B_ENST00000508116.1_Silent_p.V594V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	594					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V594V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTCGGTTCACCACTTCTCCCA	0.517000													9	55					0	0	0.004482	0	0
PRKD1	5587	broad.mit.edu	37	14	30066936	30066936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:30066936C>A	ENST00000331968.5	-	16	2424	c.2195G>T	c.(2194-2196)cGg>cTg	p.R732L	PRKD1_ENST00000415220.2_Missense_Mutation_p.R740L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	732	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R732L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCAATGATCCGGGCAAAACC	0.478000													11	55					2.31682e-05	3.32203e-05	0.003163	1	0
TTLL10	254173	broad.mit.edu	37	1	1115671	1115671	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:1115671A>T	ENST00000379290.1	+	6	630	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	TTLL10_ENST00000379288.3_Missense_Mutation_p.T80S|TTLL10_ENST00000379289.1_Missense_Mutation_p.T153S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	153					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.T80S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCCACAGCACCCGGCCGGG	0.697000													3	7					0	0	0.004672	0	0
BAI2	576	broad.mit.edu	37	1	32221746	32221746	+	Missense_Mutation	SNP	G	G	C	rs149675901		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:32221746G>C	ENST00000373658.3	-	4	1033	c.692C>G	c.(691-693)gCc>gGc	p.A231G	BAI2_ENST00000398542.1_Missense_Mutation_p.A219G|BAI2_ENST00000398547.1_Missense_Mutation_p.A219G|BAI2_ENST00000257070.4_Missense_Mutation_p.A231G|BAI2_ENST00000398556.3_Missense_Mutation_p.A234G|BAI2_ENST00000373655.2_Missense_Mutation_p.A231G|BAI2_ENST00000527361.1_Missense_Mutation_p.A231G|BAI2_ENST00000398538.1_Missense_Mutation_p.A219G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	231					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A231G(2)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTGGAGCCGGCCCCCGCCTC	0.711000													5	29					0	0	0.003330	0	0
CDH12	1010	broad.mit.edu	37	5	21975400	21975400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:21975400C>A	ENST00000382254.1	-	6	1412	c.326G>T	c.(325-327)gGg>gTg	p.G109V	CDH12_ENST00000522262.1_Missense_Mutation_p.G109V|CDH12_ENST00000504376.2_Missense_Mutation_p.G109V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	109	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G109V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGAATGTCCCCTGTGGTTTC	0.493000										HNSCC(59;0.17)			58	171					7.05995e-25	1.36773e-24	0.003610	1	0
MAP2	4133	broad.mit.edu	37	2	210560774	210560774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:210560774G>T	ENST00000360351.4	+	7	4386	c.3880G>T	c.(3880-3882)Gta>Tta	p.V1294L	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1290L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1294					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.V1294L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTCATCACTGTAGTGCAAAC	0.527000													24	103					9.95505e-16	1.80948e-15	0.002299	1	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604174	43604174	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:43604174G>C	ENST00000451025.2	+	3	409	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.E35Q|MAD2L1BP_ENST00000508232.1_3'UTR	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	35	Interaction with MAD2L1.				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	p.E35Q(1)		breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAACTACTTGAGACAAGCTC	0.488000													4	68					0	0	0.000602	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643728	37643728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:37643728T>A	ENST00000356958.4	-	5	1331	c.1073A>T	c.(1072-1074)gAg>gTg	p.E358V	ZNF585A_ENST00000392157.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E303V|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E303V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCCCACACTCAGTACATAT	0.408000													28	131					0	0	0.006320	0	0
MUC15	143662	broad.mit.edu	37	11	26582728	26582728	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:26582728C>G	ENST00000436318.2	-	4	1103	c.970G>C	c.(970-972)Ggg>Cgg	p.G324R	MUC15_ENST00000281268.8_Missense_Mutation_p.G274R|MUC15_ENST00000455601.2_Missense_Mutation_p.G297R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G274R|MUC15_ENST00000529533.1_Missense_Mutation_p.G324R|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane		p.G297R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGAATTCCCAAAACTCACA	0.378000													9	36					0	0	0.004482	0	0
FREM2	341640	broad.mit.edu	37	13	39263541	39263541	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr13:39263541A>G	ENST00000280481.7	+	1	2276	c.2060A>G	c.(2059-2061)cAg>cGg	p.Q687R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q687R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGGGCTACAGCGGTTTGTG	0.552000													6	116					0	0	0.003080	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322790	17322790	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:17322790G>A	ENST00000452699.1	-	14	1486	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	ATP13A2_ENST00000341676.5_Missense_Mutation_p.L433F|ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.L438F	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	438					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L438F(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)		ATGGTGCCGAGGAGAGCTGTG	0.657000													4	75					0	0	0.000602	0	0
OR2T4	127074	broad.mit.edu	37	1	248524995	248524995	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:248524995A>G	ENST00000366475.1	+	1	113	c.113A>G	c.(112-114)cAc>cGc	p.H38R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H38R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ATGGCCAACCACACTGGATGG	0.488000													18	122					0	0	0.007413	0	0
TREM1	54210	broad.mit.edu	37	6	41250404	41250404	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:41250404T>C	ENST00000591620.1	-	2	161	c.135A>G	c.(133-135)ctA>ctG	p.L45L	TREM1_ENST00000589614.1_Silent_p.L45L|TREM1_ENST00000244709.4_Silent_p.L45L|TREM1_ENST00000334475.6_Silent_p.L45L	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	45	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	p.L45L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CAAACTTCTCTAGCGTGTAGT	0.478000													17	148					0	0	0.004990	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277563	131277563	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:131277563A>G	ENST00000337057.3	-	2	244	c.63T>C	c.(61-63)gaT>gaC	p.D21D	EPB41L2_ENST00000527659.1_Silent_p.D21D|EPB41L2_ENST00000527411.1_Silent_p.D21D|EPB41L2_ENST00000368128.2_Silent_p.D21D|EPB41L2_ENST00000392427.3_Silent_p.D21D|EPB41L2_ENST00000525271.1_Silent_p.D21D|EPB41L2_ENST00000445890.2_Silent_p.D21D|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.D21D|EPB41L2_ENST00000525193.1_Silent_p.D21D|EPB41L2_ENST00000529208.1_Silent_p.D21D|EPB41L2_ENST00000528282.1_Silent_p.D21D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	21					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.D21D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGTTGCATCTGTTCCTA	0.438000													5	76					0	0	0.000602	0	0
GABRB2	2561	broad.mit.edu	37	5	160763718	160763718	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:160763718T>A	ENST00000274547.2	-	7	817	c.600A>T	c.(598-600)acA>acT	p.T200T	GABRB2_ENST00000517547.1_Silent_p.T40T|GABRB2_ENST00000393959.1_Silent_p.T200T|GABRB2_ENST00000517901.1_Silent_p.T137T|GABRB2_ENST00000520240.1_Silent_p.T200T|GABRB2_ENST00000353437.6_Silent_p.T200T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	200					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.T200T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCGTTACTCCTGTTACTGCAT	0.373000													19	89					0	0	0.006122	0	0
KLHL6	89857	broad.mit.edu	37	3	183211915	183211915	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:183211915T>A	ENST00000341319.3	-	5	1337	c.1302A>T	c.(1300-1302)agA>agT	p.R434S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	434								p.R434S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CATTGTTGATTCTCTGTAAGC	0.463000													25	215					0	0	0.005443	0	0
DDX46	9879	broad.mit.edu	37	5	134147433	134147433	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:134147433C>T	ENST00000452510.2	+	18	2492	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	DDX46_ENST00000354283.4_Silent_p.F778F	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	778					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	p.F778F(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAAGGGATTCAAGTTTGATG	0.353000													10	117					0	0	0.006214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764239	92764239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:92764239G>A	ENST00000318238.4	-	5	2262	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S349F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S349F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	349								p.S349F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCCCTAGAGCTAGCCCC	0.348000													6	211					0	0	0.001168	0	0
F8	2157	broad.mit.edu	37	X	154157435	154157435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:154157435G>T	ENST00000360256.4	-	14	4830	c.4630C>A	c.(4630-4632)Ctt>Att	p.L1544I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1544	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.L1544I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCTGAAGAAGGCTCCCTTCC	0.468000													18	221					5.35267e-07	8.26987e-07	0.007413	1	0
LRRC16A	55604	broad.mit.edu	37	6	25600607	25600607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:25600607G>T	ENST00000329474.6	+	33	3553	c.3185G>T	c.(3184-3186)cGa>cTa	p.R1062L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1062	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		p.R1062L(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGAAAAAGCGAGATTCTCGG	0.438000													17	85					2.48551e-13	4.40127e-13	0.004990	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885671	88885671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:88885671G>T	ENST00000319675.3	-	1	625	c.529C>A	c.(529-531)Ctt>Att	p.L177I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	177								p.L177I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAACTGCAAAGCATGCCAGGC	0.572000													11	117					0.00010058	0.000139057	0.001368	1	0
GPR148	344561	broad.mit.edu	37	2	131486884	131486884	+	Missense_Mutation	SNP	C	C	T	rs142929079		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:131486884C>T	ENST00000309926.4	+	1	242	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	54				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L54F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTGGCTTTTCCTTCCCTCAAG	0.632000													3	50					0	0	0.004672	0	0
FAIM3	9214	broad.mit.edu	37	1	207087253	207087253	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:207087253C>T	ENST00000367091.3	-	2	367	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.R75Q|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	75	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane		p.R75Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CAGAGTAACTCGGCCCTTGTA	0.517000													15	223					0	0	0.004007	0	0
LPXN	9404	broad.mit.edu	37	11	58318700	58318700	+	Silent	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:58318700T>G	ENST00000528954.1	-	5	458	c.339A>C	c.(337-339)gcA>gcC	p.A113A	LPXN_ENST00000395074.2_Silent_p.A108A|LPXN_ENST00000528489.1_Silent_p.A88A	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	108					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	p.A113A(1)|p.A108A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCTCTCACTGCAACCTGGC	0.483000													4	23					0	0	0.000248	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970755	47970755	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:47970755C>A	ENST00000289672.2	-	6	733	c.683G>T	c.(682-684)aGc>aTc	p.S228I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	228					cell-cell adhesion	integral to membrane		p.S228I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCGCTGGGAGCTGGTCTGAGT	0.612000													9	50					0.00448238	0.00581956	0.004482	1	0
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:39923699C>A	ENST00000342274.4	-	7	3754	c.3392G>T	c.(3391-3393)cGg>cTg	p.R1131L	BCOR_ENST00000378455.4_Missense_Mutation_p.R1113L|BCOR_ENST00000378463.1_Missense_Mutation_p.R8L|BCOR_ENST00000378444.4_Missense_Mutation_p.R1131L|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	51					2.0095e-06	3.00695e-06	0.001984	1	0
LANCL2	55915	broad.mit.edu	37	7	55496113	55496113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:55496113C>G	ENST00000254770.2	+	8	1809	c.1231C>G	c.(1231-1233)Cct>Gct	p.P411A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	411					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.P411A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGCCGCATTCCTGACAGACC	0.443000													11	56					0	0	0.001368	0	0
IRAK1	3654	broad.mit.edu	37	X	153284753	153284753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:153284753G>A	ENST00000369980.3	-	3	498	c.331C>T	c.(331-333)Cca>Tca	p.P111S	IRAK1_ENST00000369974.2_Missense_Mutation_p.P111S|IRAK1_ENST00000429936.2_Missense_Mutation_p.P137S|IRAK1_ENST00000393682.1_Missense_Mutation_p.P137S|IRAK1_ENST00000393687.2_Missense_Mutation_p.P111S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	111	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	p.P111S(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTGCCTGGGGACGGAAGC	0.736000													3	36					0	0	0.004672	0	0
ATP2B4	493	broad.mit.edu	37	1	203652479	203652479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:203652479G>T	ENST00000357681.5	+	2	1269	c.146G>T	c.(145-147)gGa>gTa	p.G49V	ATP2B4_ENST00000391954.2_Missense_Mutation_p.G49V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G49V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	49					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G49V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCACTATGGAGGTGTACAG	0.512000													18	132					2.48551e-13	4.40127e-13	0.004990	1	0
SPTBN5	51332	broad.mit.edu	37	15	42166580	42166580	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr15:42166580G>A	ENST00000320955.6	-	24	4826	c.4599C>T	c.(4597-4599)ctC>ctT	p.L1533L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1533					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.L1533L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTACCCAAGAGAGCTCCATGT	0.617000													18	56					0	0	0.004990	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406464	20406464	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:20406464G>T	ENST00000580113.1	-	0	602																											GTCAGTCCTGGCCAGGGTCAG	0.632000													9	35					2.17888e-05	3.1315e-05	0.006214	1	0
ZDBF2	57683	broad.mit.edu	37	2	207169464	207169464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:207169464T>C	ENST00000374423.3	+	5	598	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	71							nucleic acid binding|zinc ion binding	p.V71A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGACACATGTGAATACTGGG	0.373000													6	57					0	0	0.001168	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370104	20370104	+	RNA	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:20370104A>G	ENST00000593655.1	-	0	199																											AGCACATGGTATTCTTGGGTG	0.413000													10	40					0	0	0.000978	0	0
ZPBP	11055	broad.mit.edu	37	7	50070835	50070835	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:50070835T>A	ENST00000046087.2	-	5	628	c.559A>T	c.(559-561)Aat>Tat	p.N187Y	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.N186Y	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	187					binding of sperm to zona pellucida	extracellular region		p.N187Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAAGAAATATTATAAATGCTA	0.343000													10	73					0	0	0.000978	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918992	12918992	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:12918992C>A	ENST00000240189.2	+	2	215	c.128C>A	c.(127-129)gCc>gAc	p.A43D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	43								p.A43D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGGGAGGCCTTCAGCAGG	0.607000													31	166					1.88708e-17	3.52332e-17	0.008361	1	0
DOCK2	1794	broad.mit.edu	37	5	169423144	169423144	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:169423144A>G	ENST00000256935.8	+	30	3128	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L	DOCK2_ENST00000520908.1_Silent_p.L508L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L77L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1016	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.L1016L(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)			AGAAGTTCCTAGAACACACGA	0.498000													3	76					0	0	0.004672	0	0
IFT140	9742	broad.mit.edu	37	16	1621515	1621515	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:1621515G>A	ENST00000426508.2	-	14	1908	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	515								p.L515L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGAGAAAAGGAGGAGTTGTT	0.418000													6	35					0	0	0.001984	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866246	140866246	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:140866246A>G	ENST00000306593.1	+	1	1506	c.1506A>G	c.(1504-1506)gtA>gtG	p.V502V	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.V502V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGATGTATCAGCTTCCT	0.537000													35	173					0	0	0.002836	0	0
STAB1	23166	broad.mit.edu	37	3	52550187	52550187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:52550187C>A	ENST00000321725.6	+	38	4153	c.4077C>A	c.(4075-4077)caC>caA	p.H1359Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1359	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.H1359Q(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCACTGCCACGAGGGCTTCC	0.701000													7	38					5.18039e-06	7.62258e-06	0.003080	1	0
ACRBP	84519	broad.mit.edu	37	12	6749349	6749349	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:6749349G>A	ENST00000229243.2	-	8	1395	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	ACRBP_ENST00000414226.2_Silent_p.Y401Y|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	434						acrosomal vesicle|extracellular region		p.Y434Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGAGCCCACCGTACAAATCCA	0.607000													7	54					0	0	0.004482	0	0
C6orf10	10665	broad.mit.edu	37	6	32261492	32261492	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:32261492C>T	ENST00000375015.4	-	26	1155	c.955G>A	c.(955-957)Gga>Aga	p.G319R	C6orf10_ENST00000533191.1_Missense_Mutation_p.G318R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G318R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G311R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G304R|C6orf10_ENST00000447241.2_Missense_Mutation_p.G320R			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	320						integral to membrane		p.G320R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATTTGGGCTCCCTGTCCTTGT	0.443000													39	202					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179560074	179560074	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:179560074C>A	ENST00000589042.1	-	115	31495		c.e115+1		TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(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)			TAATTACTTACCTTTAGGAGG	0.358000													7	99					0.00198382	0.00260297	0.001984	1	0
GPR112	139378	broad.mit.edu	37	X	135427235	135427235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:135427235C>A	ENST00000394143.1	+	6	1661	c.1370C>A	c.(1369-1371)gCa>gAa	p.A457E	GPR112_ENST00000412101.1_Missense_Mutation_p.A252E|GPR112_ENST00000394141.1_Missense_Mutation_p.A252E|GPR112_ENST00000287534.4_Missense_Mutation_p.A394E|GPR112_ENST00000370652.1_Missense_Mutation_p.A457E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	457					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A457E(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCACCTGCATCTACTCAT	0.493000													13	115					2.27111e-07	3.54431e-07	0.001368	1	0
TMEM126B	55863	broad.mit.edu	37	11	85345207	85345207	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:85345207G>C	ENST00000534341.1	+	3	287	c.281G>C	c.(280-282)aGa>aCa	p.R94T	TMEM126B_ENST00000358867.6_Missense_Mutation_p.R94T|TMEM126B_ENST00000393375.1_Missense_Mutation_p.R64T			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	94						integral to membrane		p.R64T(1)		kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTCCTGTTCAGACGCTGCTTC	0.343000													8	102					0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032087	10032087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:10032087G>T	ENST00000396573.2	-	4	1045	c.736C>A	c.(736-738)Ctt>Att	p.L246I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.L89I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L246I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L246I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	246					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L246I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGGCCAAGGGAGCGGGCC	0.507000													12	78					3.07112e-06	4.54055e-06	0.000978	1	0
WNK3	65267	broad.mit.edu	37	X	54264888	54264888	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:54264888T>C	ENST00000354646.2	-	19	4339	c.3901A>G	c.(3901-3903)Aga>Gga	p.R1301G	WNK3_ENST00000375169.3_Missense_Mutation_p.R1254G|WNK3_ENST00000375159.2_Missense_Mutation_p.R1301G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1254					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R1301G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTGCTGATCTCATCTCTTCT	0.378000													10	36					0	0	0.006214	0	0
GPR50	9248	broad.mit.edu	37	X	150345268	150345268	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:150345268G>T	ENST00000218316.3	+	1	144	c.75G>T	c.(73-75)ccG>ccT	p.P25P	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	25					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.P25P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AATACCCACCGGCTCTAATCA	0.517000													19	151					5.03518e-11	8.64373e-11	0.007413	1	0
ITM2B	9445	broad.mit.edu	37	13	48828025	48828025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr13:48828025G>T	ENST00000378565.5	+	2	402	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C	ITM2B_ENST00000378549.5_Missense_Mutation_p.G67C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	67					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.G67C(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TATGCTTGCAGGTGTTATTCT	0.378000													14	61					4.14922e-12	7.20285e-12	0.004007	1	0
MTR	4548	broad.mit.edu	37	1	236995357	236995357	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:236995357C>A	ENST00000366577.5	+	13	1561	c.1167C>A	c.(1165-1167)ctC>ctA	p.L389L	MTR_ENST00000535889.1_Silent_p.L389L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	389	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGCTAAACTCATCATGGCAG	0.453000													19	58					3.51602e-12	6.12084e-12	0.008871	1	0
CD5	921	broad.mit.edu	37	11	60885907	60885907	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:60885907C>T	ENST00000347785.3	+	3	521	c.355C>T	c.(355-357)Cac>Tac	p.H119Y		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	119	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.H119Y(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAACTGCAGCCACAGCAGAAA	0.602000													6	136					0	0	0.001168	0	0
GALNT10	55568	broad.mit.edu	37	5	153783750	153783750	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:153783750G>T	ENST00000297107.6	+	8	1280	c.1143G>T	c.(1141-1143)ccG>ccT	p.P381P	GALNT10_ENST00000377657.3_Silent_p.P52P|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Silent_p.P319P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	381	Flexible loop.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P381P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ACAAGGTCCCGGCCGGAGTCA	0.627000													11	43					6.40141e-05	8.93018e-05	0.000978	1	0
RANBP2	5903	broad.mit.edu	37	2	109374925	109374925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:109374925G>T	ENST00000283195.6	+	18	2649	c.2523G>T	c.(2521-2523)tgG>tgT	p.W841C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	841					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.W841C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCATCGTTGGCCCACAGAGA	0.398000													46	333					7.05121e-23	1.35752e-22	0.002522	1	0
COL5A2	1290	broad.mit.edu	37	2	189929292	189929292	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:189929292T>A	ENST00000374866.3	-	25	1981	c.1707A>T	c.(1705-1707)ccA>ccT	p.P569P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	569					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P569P(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)			CCCGAGCACCTGGAAGCCCAG	0.512000													10	59					0	0	0.008291	0	0
MAP9	79884	broad.mit.edu	37	4	156273864	156273864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:156273864C>G	ENST00000311277.4	-	13	1968	c.1705G>C	c.(1705-1707)Gct>Cct	p.A569P	AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.A545P|AC097467.2_ENST00000593387.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	569					cell division|mitosis	cytoplasm|microtubule|spindle		p.A569P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTGAAAAAAGCTTCCTTTTTT	0.279000													8	40					0	0	0.003080	0	0
AIP	9049	broad.mit.edu	37	11	67250704	67250704	+	Silent	SNP	C	C	T	rs104895074		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:67250704C>T	ENST00000279146.3	+	1	193	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	25					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	p.L25L(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GAGGAGAGCTCCCGGACTTTC	0.617000									Familial Isolated Pituitary Adenoma				5	68					0	0	0.000602	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049802	42049802	+	Missense_Mutation	SNP	C	C	A	rs147878871		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:42049802C>A	ENST00000372584.1	-	3	1681	c.667G>T	c.(667-669)Ggc>Tgc	p.G223C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G223C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G223C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G223C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	223	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G223C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACAGGGGCCGCAGGGGTAG	0.602000													7	55					5.18039e-06	7.62258e-06	0.003080	1	0
KCNS3	3790	broad.mit.edu	37	2	18113190	18113190	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:18113190G>A	ENST00000403915.1	+	3	1366	c.915G>A	c.(913-915)cgG>cgA	p.R305R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.R305R			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	305					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.R305R(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTTGCCCGGCACTCGGTAG	0.498000													4	149					0	0	0.000248	0	0
SPATA2	9825	broad.mit.edu	37	20	48522885	48522885	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:48522885A>G	ENST00000422556.1	-	3	1183	c.834T>C	c.(832-834)ccT>ccC	p.P278P	SPATA2_ENST00000289431.5_Silent_p.P278P|SPATA2_ENST00000543716.1_Silent_p.P141P	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.P278P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCGTTGCCACAGGCTCCTTCC	0.637000													4	86					0	0	0.000248	0	0
MIEF2	125170	broad.mit.edu	37	17	18167939	18167939	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:18167939T>G	ENST00000323019.4	+	4	1437	c.1226T>G	c.(1225-1227)aTc>aGc	p.I409S	SMCR7_ENST00000395706.2_Missense_Mutation_p.I420S|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		409						integral to membrane	protein binding	p.I409S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GAGCTGCTCATCGGCAGCCTG	0.632000													11	57					0	0	0.008291	0	0
C8orf74	203076	broad.mit.edu	37	8	10555137	10555137	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:10555137C>A	ENST00000304519.5	+	3	299	c.270C>A	c.(268-270)atC>atA	p.I90I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	90								p.I90I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CTGTGACGATCCTGGGGAACA	0.582000													12	97					2.80697e-09	4.6632e-09	0.000978	1	0
RYR2	6262	broad.mit.edu	37	1	237551419	237551419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:237551419C>G	ENST00000366574.2	+	10	1026	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	RYR2_ENST00000542537.1_Missense_Mutation_p.L221V|RYR2_ENST00000360064.6_Missense_Mutation_p.L235V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	237	MIR 3.				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.L235V(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)			CCTCAGGTTGCTGCATGGACA	0.488000													6	34					0	0	0.003080	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802546	185802546	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:185802546C>T	ENST00000302277.6	+	4	3017	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	808						intracellular	zinc ion binding	p.P808L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCTGCAAGCCTAAAAAGAAA	0.388000													15	97					0	0	0.004007	0	0
LRRC66	339977	broad.mit.edu	37	4	52861433	52861433	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:52861433T>A	ENST00000343457.3	-	4	1761	c.1755A>T	c.(1753-1755)acA>acT	p.T585T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	585						integral to membrane		p.T585T(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAGGGAAGCTGTTATTTCTC	0.507000													12	181					0	0	0.001368	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107277	27107277	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:27107277G>A	ENST00000354348.2	+	1	202	c.190G>A	c.(190-192)Gag>Aag	p.E64K	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E64K(1)		lung(1)	1						GGTGTTCCTGGAGAACGTGAT	0.652000			T	BCL6	NHL								17	57					0	0	0.004007	0	0
POMC	5443	broad.mit.edu	37	2	25384028	25384028	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:25384028G>T	ENST00000405623.1	-	3	1181	c.726C>A	c.(724-726)acC>acA	p.T242T	POMC_ENST00000264708.3_Silent_p.T242T|POMC_ENST00000395826.2_Silent_p.T242T|POMC_ENST00000380794.1_Silent_p.T242T			P01189	COLI_HUMAN	proopiomelanocortin	242					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.T242T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TCTTCTCGGAGGTCATGAAAC	0.642000													9	45					1.58986e-06	2.3906e-06	0.008291	1	0
DDX3X	1654	broad.mit.edu	37	X	41196688	41196688	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:41196688G>A	ENST00000399959.2	+	2	928	c.73G>A	c.(73-75)Gat>Aat	p.D25N	DDX3X_ENST00000457138.2_Missense_Mutation_p.D25N|DDX3X_ENST00000441189.2_Missense_Mutation_p.D25N|DDX3X_ENST00000542215.1_Missense_Mutation_p.D69N|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	25					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.D25N(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAACTCTTCAGATAATCAGAG	0.408000										HNSCC(61;0.18)			7	116					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9073651	9073651	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:9073651G>T	ENST00000397910.4	-	3	13998	c.13795C>A	c.(13795-13797)Ctg>Atg	p.L4599M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4601	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L4599M(2)|p.L232M(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						CCAGCAGTCAGGGAGGATGTT	0.502000													9	56					1.76689e-08	2.86598e-08	0.006214	1	0
MCMBP	79892	broad.mit.edu	37	10	121595096	121595096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:121595096G>C	ENST00000360003.3	-	14	1838	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.L555V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	557					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.L557V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AATCTCAAAAGAGTTAGATAA	0.413000													10	77					0	0	0.006214	0	0
GPR64	10149	broad.mit.edu	37	X	19020988	19020988	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:19020988G>T	ENST00000354791.3	-	23	2399	c.2158C>A	c.(2158-2160)Ctt>Att	p.L720I	GPR64_ENST00000357544.3_Missense_Mutation_p.L706I|GPR64_ENST00000379869.3_Missense_Mutation_p.L736I|GPR64_ENST00000360279.4_Missense_Mutation_p.L714I|GPR64_ENST00000379873.2_Missense_Mutation_p.L736I|GPR64_ENST00000379876.1_Missense_Mutation_p.L712I|GPR64_ENST00000357991.3_Missense_Mutation_p.L733I|GPR64_ENST00000340581.3_Missense_Mutation_p.L617I|GPR64_ENST00000379878.3_Missense_Mutation_p.L720I|GPR64_ENST00000356606.4_Missense_Mutation_p.L722I			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	736					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.L733I(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAGAATTTAAGGATGTATTTT	0.408000													11	132					6.40141e-05	8.93018e-05	0.000978	1	0
C5orf42	65250	broad.mit.edu	37	5	37201763	37201763	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:37201763C>T	ENST00000274258.7	-	19	3667	c.80G>A	c.(79-81)gGc>gAc	p.G27D	C5orf42_ENST00000425232.2_Missense_Mutation_p.G1146D|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1146D			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1146								p.G27D(1)|p.G1146D(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGCACTAAGCCCCACAGTCT	0.418000													8	203					0	0	0.004482	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965188	1965188	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:1965188T>A	ENST00000382722.5	-	22	2504	c.2142A>T	c.(2140-2142)ccA>ccT	p.P714P	CACNA2D4_ENST00000585708.1_Silent_p.P650P|CACNA2D4_ENST00000586184.1_Silent_p.P714P|CACNA2D4_ENST00000587995.1_Silent_p.P689P|CACNA2D4_ENST00000588077.1_Silent_p.P650P|CACNA2D4_ENST00000585732.1_Silent_p.P575P|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	714						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P714P(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACTCCAGGTCTGGGTCCTTCC	0.592000													10	43					0	0	0.008291	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145221	99145221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:99145221C>A	ENST00000547776.2	-	25	3583	c.3584G>T	c.(3583-3585)gGg>gTg	p.G1195V	ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421V|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385V|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361V|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330V|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711V|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201V|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195V|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293V|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361V|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.G1195V(1)|p.G445V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGTGTCCCCCTTTTCTTGC	0.478000													12	101					7.03913e-09	1.15696e-08	0.001368	1	0
ANKRD36	375248	broad.mit.edu	37	2	97860624	97860624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:97860624G>A	ENST00000420699.2	+	40	2765	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	ANKRD36_ENST00000461153.2_Missense_Mutation_p.G841R	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	841								p.G841R(1)|p.G773R(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATAACCAGAGGAAAAAAGGA	0.338000													3	14					0	0	0.004672	0	0
RAD51C	5889	broad.mit.edu	37	17	56780677	56780677	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:56780677C>T	ENST00000337432.4	+	4	763	c.692C>T	c.(691-693)tCa>tTa	p.S231L	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.S231L	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	231					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.S231L(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATTTCCTTTCAGAACACTCA	0.333000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				10	118					0	0	0.001855	0	0
DGKB	1607	broad.mit.edu	37	7	14217662	14217662	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:14217662A>C	ENST00000403951.2	-	24	2659	c.2240T>G	c.(2239-2241)gTc>gGc	p.V747G	DGKB_ENST00000402815.1_Missense_Mutation_p.V746G|DGKB_ENST00000407950.1_Missense_Mutation_p.V739G|DGKB_ENST00000406247.3_Missense_Mutation_p.V747G|DGKB_ENST00000399322.3_Missense_Mutation_p.V747G|DGKB_ENST00000258767.5_Missense_Mutation_p.V747G|DGKB_ENST00000444700.2_Missense_Mutation_p.V728G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	747					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.V747G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTACCTGATGACCACGCAGGA	0.498000													12	76					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237806644	237806644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:237806644G>T	ENST00000366574.2	+	48	7556	c.7239G>T	c.(7237-7239)aaG>aaT	p.K2413N	RYR2_ENST00000542537.1_Missense_Mutation_p.K2397N|RYR2_ENST00000360064.6_Missense_Mutation_p.K2411N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2413	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.K2411N(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCGGGAAGGGAGAAGCCA	0.413000													51	156					1.39843e-22	2.68394e-22	0.003610	1	0
MAU2	23383	broad.mit.edu	37	19	19454666	19454666	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:19454666C>T	ENST00000392313.5	+	10	1040	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	MAU2_ENST00000262815.8_Silent_p.L332L|MAU2_ENST00000585823.2_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	332					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	p.L332L(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCCCCATCCTGTCATCCTT	0.637000													18	111					0	0	0.006122	0	0
RLF	6018	broad.mit.edu	37	1	40706012	40706012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:40706012C>T	ENST00000372771.4	+	8	5665	c.5638C>T	c.(5638-5640)Cat>Tat	p.H1880Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1880					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.H1880Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAACAGCTTCATTATCTTCG	0.393000													10	84					0	0	0.006214	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933508	31933508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr21:31933508C>A	ENST00000334849.2	-	1	125	c.101G>T	c.(100-102)aGa>aTa	p.R34I		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	34						intermediate filament		p.R34I(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATAGCCCAGTCTGCGGAAGCT	0.537000													26	131					2.41591e-17	4.48358e-17	0.004656	1	0
MYH7	4625	broad.mit.edu	37	14	23893993	23893993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:23893993C>A	ENST00000355349.3	-	22	2826	c.2664G>T	c.(2662-2664)caG>caT	p.Q888H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	888					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q888H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCACTTGGAGCTGCAGGTCAT	0.607000													7	48					0.00198382	0.00260297	0.001984	1	0
ZNF606	80095	broad.mit.edu	37	19	58490898	58490898	+	Missense_Mutation	SNP	C	C	T	rs142065196	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:58490898C>T	ENST00000341164.4	-	7	1770	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	ZNF606_ENST00000536132.1_Missense_Mutation_p.D294N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D384N(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGGAAAGAGTCATACCCAAAG	0.363000													19	96					0	0	0.007413	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785371	178785371	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:178785371C>A	ENST00000311417.2	-	2	911	c.170G>T	c.(169-171)gGg>gTg	p.G57V	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G57V	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	57					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	p.G57V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTCTTGCTCCCCTCCCTTCGA	0.547000													29	116					4.87955e-14	8.76618e-14	0.005443	1	0
ZNF610	162963	broad.mit.edu	37	19	52868949	52868949	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:52868949A>T	ENST00000601151.1	+	5	642		c.e5-1		ZNF610_ENST00000403906.3_Splice_Site|ZNF610_ENST00000321287.8_Splice_Site|ZNF610_ENST00000327920.8_Splice_Site	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CTTCTTTTCTAGGGAGGAGCT	0.448000													20	118					0	0	0.001882	0	0
MED12	9968	broad.mit.edu	37	X	70356805	70356805	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:70356805C>T	ENST00000333646.6	+	38	5676	c.5477C>T	c.(5476-5478)cCt>cTt	p.P1826L	MED12_ENST00000374102.1_Missense_Mutation_p.P1826L|MED12_ENST00000374080.3_Missense_Mutation_p.P1826L|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1826	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1826L(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACCCAAACCCTGGTTCTATA	0.582000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	30					0	0	0.000248	0	0
TNR	7143	broad.mit.edu	37	1	175375383	175375383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:175375383G>T	ENST00000367674.1	-	3	1176	c.468C>A	c.(466-468)aaC>aaA	p.N156K	TNR_ENST00000263525.2_Missense_Mutation_p.N156K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	156	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.N156K(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)					AGCAGTTGGCGTTGCACTGGT	0.627000													17	81					0.000958276	0.00128463	0.007413	1	0
RICTOR	253260	broad.mit.edu	37	5	38959970	38959970	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:38959970G>A	ENST00000357387.3	-	21	1992	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	RICTOR_ENST00000296782.5_Silent_p.T654T	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	654					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.T654T(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)					GTTGACTAAGGGTGGTCAATA	0.378000													18	201					0	0	0.007413	0	0
AK5	26289	broad.mit.edu	37	1	77763337	77763337	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:77763337A>T	ENST00000344720.5	+	4	1457	c.431A>T	c.(430-432)aAg>aTg	p.K144M	AK5_ENST00000354567.2_Missense_Mutation_p.K170M|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	170					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.K170M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTAAGAAAGAAGATCCACAGT	0.388000													17	67					0	0	0.004007	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039543	153039543	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:153039543T>A	ENST00000538966.1	+	21	3849	c.3578T>A	c.(3577-3579)cTg>cAg	p.L1193Q	PLXNB3_ENST00000538282.1_Missense_Mutation_p.L780Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L823Q|PLXNB3_ENST00000361971.5_Missense_Mutation_p.L1170Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1170	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.L1170Q(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCATGTCCTGGATGTGGAG	0.711000													3	16					0	0	0.004672	0	0
ODAM	54959	broad.mit.edu	37	4	71062448	71062448	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:71062448G>A	ENST00000396094.2	+	2	139	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323000													4	36					0	0	0.000602	0	0
KRT84	3890	broad.mit.edu	37	12	52774887	52774887	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:52774887C>G	ENST00000257951.3	-	6	1246	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	394	Coil 2.|Rod.					keratin filament	structural constituent of epidermis	p.E394Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCAATCTCTGCCTTAAGC	0.552000													25	205					0	0	0.005443	0	0
IQSEC3	440073	broad.mit.edu	37	12	176538	176538	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:176538G>A	ENST00000538872.1	+	1	608	c.490G>A	c.(490-492)Gga>Aga	p.G164R	IQSEC3_ENST00000326261.4_Missense_Mutation_p.G164R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	164					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.G164R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCTGCTGCCGGAGCCCTCCT	0.657000													4	18					0	0	0.000248	0	0
SPAG7	9552	broad.mit.edu	37	17	4863187	4863187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:4863187C>T	ENST00000573366.1	-	6	1147	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SPAG7_ENST00000575142.1_Missense_Mutation_p.E137K|SPAG7_ENST00000206020.3_Missense_Mutation_p.E148K			O75391	SPAG7_HUMAN	sperm associated antigen 7	148	R3H.					nucleus	nucleic acid binding|protein binding	p.E148K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGGGCTGCCTCCTCCTCTTGC	0.662000													11	60					0	0	0.000978	0	0
ADCY2	108	broad.mit.edu	37	5	7789797	7789797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:7789797T>A	ENST00000338316.4	+	20	2601	c.2512T>A	c.(2512-2514)Ttc>Atc	p.F838I	ADCY2_ENST00000537121.1_Missense_Mutation_p.F658I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	838					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.F838I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAGAACAAATTCAAAAAAGA	0.483000													8	275					0	0	0.006214	0	0
FYB	2533	broad.mit.edu	37	5	39202316	39202316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:39202316G>T	ENST00000351578.6	-	2	937	c.747C>A	c.(745-747)gaC>gaA	p.D249E	FYB_ENST00000505428.1_Missense_Mutation_p.D249E|FYB_ENST00000540520.1_Missense_Mutation_p.D259E|FYB_ENST00000512982.1_Missense_Mutation_p.D249E|FYB_ENST00000515010.1_Missense_Mutation_p.D249E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	249					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.D249E(3)|p.D259E(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCCTGCATGGTCTTTATTTT	0.493000													30	301					3.1745e-13	5.60525e-13	0.008361	1	0
ZNF492	57615	broad.mit.edu	37	19	22847415	22847415	+	Missense_Mutation	SNP	G	G	T	rs74170725		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:22847415G>T	ENST00000456783.2	+	4	1188	c.944G>T	c.(943-945)gGt>gTt	p.G315V		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G315F(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)				GAAGAATGTGGTAAGGCCTTT	0.378000													11	52					4.68919e-08	7.50756e-08	0.008291	1	0
SATB2	23314	broad.mit.edu	37	2	200246493	200246493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:200246493C>A	ENST00000443023.1	-	3	1685	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SATB2_ENST00000260926.5_Missense_Mutation_p.D133Y|SATB2_ENST00000417098.1_Missense_Mutation_p.D133Y|SATB2_ENST00000457245.1_Missense_Mutation_p.D133Y|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	133						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.D133Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCGGGTGCATCTGTCACATAA	0.433000													5	65					1.23904e-05	1.78908e-05	0.000602	1	0
SLC17A3	10786	broad.mit.edu	37	6	25862059	25862059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:25862059G>T	ENST00000397060.4	-	4	611	c.502C>A	c.(502-504)Ctc>Atc	p.L168I	SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	319					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.L168I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTACAATGAGCAAGACTATT	0.413000													5	45					0.000602214	0.000810825	0.000602	1	0
METTL14	57721	broad.mit.edu	37	4	119631390	119631390	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:119631390G>A	ENST00000388822.4	+	11	1471	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	METTL14_ENST00000506780.1_Missense_Mutation_p.R397Q			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	435	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R435Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TCTAACTTCCGAGGAGAAAGA	0.517000													4	53					0	0	0.000602	0	0
SMAD2	4087	broad.mit.edu	37	18	45371730	45371730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr18:45371730C>A	ENST00000402690.2	-	10	1655	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	SMAD2_ENST00000586040.1_Missense_Mutation_p.G391W|SMAD2_ENST00000356825.4_Missense_Mutation_p.G391W|SMAD2_ENST00000591214.1_Missense_Mutation_p.G391W|SMAD2_ENST00000262160.6_Missense_Mutation_p.G421W	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	421	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.G421W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCTCCCCACCCTTTCACAAAA	0.388000													16	95					1.99824e-07	3.15028e-07	0.004990	1	0
OR5I1	10798	broad.mit.edu	37	11	55703541	55703541	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:55703541T>A	ENST00000301532.3	-	1	335	c.336A>T	c.(334-336)acA>acT	p.T112T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T112T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAAGGATTCTGTATCTGCAA	0.438000													6	55					0	0	0.001168	0	0
DUSP11	8446	broad.mit.edu	37	2	74000985	74000985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:74000985C>A	ENST00000443070.1	-	4	521	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Missense_Mutation_p.E125D|DUSP11_ENST00000272444.3_Missense_Mutation_p.E172D			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	125	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.E125D(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAAAATAGTCTCATCATCAG	0.308000													22	154					6.33239e-15	1.14427e-14	0.001523	1	0
POU5F1	5460	broad.mit.edu	37	6	31133041	31133041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:31133041A>G	ENST00000513407.1	-	2	1622	c.92T>C	c.(91-93)gTg>gCg	p.V31A	POU5F1_ENST00000441888.3_Missense_Mutation_p.V31A|POU5F1_ENST00000512818.1_Missense_Mutation_p.V31A|POU5F1_ENST00000606567.1_Missense_Mutation_p.V57A|POU5F1_ENST00000471529.2_Missense_Mutation_p.V31A|POU5F1_ENST00000259915.8_Missense_Mutation_p.V227A			Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	227					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.V227A(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCGGGCCTGCACGAGGGTTTC	0.537000			T	EWSR1	sarcoma								4	15					0	0	0.003080	0	0
NLRP7	199713	broad.mit.edu	37	19	55447692	55447692	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:55447692C>T	ENST00000588756.1	-	8	2723	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	NLRP7_ENST00000328092.5_Missense_Mutation_p.R718H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R746H|NLRP7_ENST00000590030.1_Missense_Mutation_p.R746H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R718H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R774H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding	p.R746H(1)|p.R718H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCATCGTGCGTTCCCACTC	0.572000													6	78					0	0	0.001984	0	0
ZNF233	353355	broad.mit.edu	37	19	44778728	44778728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:44778728C>A	ENST00000391958.2	+	5	2042	c.1915C>A	c.(1915-1917)Cag>Aag	p.Q639K	ZNF233_ENST00000334152.1_Missense_Mutation_p.Q621K|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q639K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCAAGCCCATCAGAGAGTCCA	0.428000													21	58					4.35082e-09	7.20859e-09	0.001523	1	0
CHL1	10752	broad.mit.edu	37	3	447299	447299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:447299G>T	ENST00000256509.2	+	28	4222	c.3580G>T	c.(3580-3582)Gat>Tat	p.D1194Y	CHL1_ENST00000397491.2_Missense_Mutation_p.D1178Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1178					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.D1194Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCAGTGAAGATGGATCATT	0.468000													8	61					7.48243e-07	1.14459e-06	0.006214	1	0
AMER3	205147	broad.mit.edu	37	2	131521386	131521386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:131521386G>T	ENST00000423981.1	+	2	1851	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E581*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.E581*(1)									GCTCGCCGGAGAGAGCAAGGC	0.657000													7	57					2.0095e-06	3.00695e-06	0.001984	1	0
PHKG2	5261	broad.mit.edu	37	16	30762447	30762447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr16:30762447G>T	ENST00000563588.1	+	3	355	c.116G>T	c.(115-117)cGc>cTc	p.R39L	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Missense_Mutation_p.R39L|PHKG2_ENST00000424889.3_Missense_Mutation_p.R39L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	39	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.R39L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCTGTGGTCCGCCGTTGTGTT	0.577000													7	55					0.000157383	0.00021566	0.003080	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110520333	110520333	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:110520333T>G	ENST00000378402.5	+	70	11339	c.11235T>G	c.(11233-11235)atT>atG	p.I3745M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3745					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.I3749M(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGAATTATTAGAGATTCAA	0.333000										HNSCC(38;0.096)			6	91					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9083145	9083145	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:9083145C>T	ENST00000397910.4	-	1	8873	c.8670G>A	c.(8668-8670)ttG>ttA	p.L2890L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2891	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2890L(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						ACTCAAATGTCAAGGTAGACT	0.517000													7	40					0	0	0.003080	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56771215	56771215	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:56771215C>A	ENST00000413728.2	-	8	1600	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.V353L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.V379L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.V318L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.V347L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.V347L	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	347	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.V347L(2)|p.V379L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTACTTACCACGCCCCGATTG	0.473000													8	94					3.09899e-07	4.81199e-07	0.004482	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94668512	94668512	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:94668512C>T	ENST00000260526.6	-	10	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E306K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	306					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.E306K(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTTTATTTCTTTCCTTTGT	0.299000													12	131					0	0	0.001855	0	0
RPL31P11	641311	broad.mit.edu	37	1	161655026	161655026	+	RNA	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:161655026G>A	ENST00000426558.1	-	0	16					NR_002595.1																						TGGAAAGGAAGAGCGCGAGGG	0.493000													4	19					0	0	0.000248	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576335	33576335	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:33576335G>T	ENST00000504830.1	-	19	4131	c.3796C>A	c.(3796-3798)Cgt>Agt	p.R1266S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1181S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1266	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1266S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGTGGTTACGGTTTGCCGTC	0.498000										HNSCC(64;0.19)			40	505					6.97489e-18	1.31417e-17	0.004878	1	0
C20orf26	26074	broad.mit.edu	37	20	20051546	20051546	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:20051546C>A	ENST00000377309.2	+	0	306				C20orf26_ENST00000389656.3_De_novo_Start_InFrame|C20orf26_ENST00000451767.2_Silent_p.I64I|C20orf26_ENST00000377306.1_Silent_p.I64I|C20orf26_ENST00000245957.5_Silent_p.I64I			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26									p.I64I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGAGGAGATCATGGCCCAGG	0.488000													6	52					0.00116845	0.00155625	0.001168	1	0
CCT2	10576	broad.mit.edu	37	12	69991418	69991418	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:69991418G>T	ENST00000543146.2	+	12	1444	c.961_splice	c.e12-1	p.G321_splice	CCT2_ENST00000299300.6_Splice_Site_p.G368_splice|CCT2_ENST00000544368.2_Splice_Site_p.G368_splice	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	368					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.G368V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTAATTTTAGGTGAGGCTTGT	0.393000													16	82					3.41278e-10	5.77836e-10	0.004990	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786248	121786248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:121786248C>T	ENST00000261367.7	+	12	3275	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S203F|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S509F|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S171F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S569F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S616F|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S127F|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	569					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.S616F(1)|p.S569F(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCACCTGCCTCCAGAAAGTCC	0.453000													17	212					0	0	0.006122	0	0
GLA	2717	broad.mit.edu	37	X	100653523	100653523	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:100653523A>T	ENST00000218516.3	-	6	855	c.834T>A	c.(832-834)aaT>aaA	p.N278K	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	278					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	p.N278K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TTACTTGCTGATTCCAGCTGA	0.443000													4	182					0	0	0.000248	0	0
RANBP17	64901	broad.mit.edu	37	5	170305126	170305126	+	Missense_Mutation	SNP	G	G	T	rs147041695		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:170305126G>T	ENST00000523189.1	+	2	208	c.44G>T	c.(43-45)tGt>tTt	p.C15F		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	15					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C15F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGTGTTATGTACTCATCTC	0.338000			T	TRD@	ALL								9	46					3.09899e-07	4.81199e-07	0.004482	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960592	73960592	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:73960592G>T	ENST00000373468.1	-	3	4451	c.3800C>A	c.(3799-3801)cCt>cAt	p.P1267H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1267H			Q5QGS0	K2022_HUMAN	KIAA2022	1267					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.P1267H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGCCATAGGGCCACCATG	0.527000													8	53					0.00307968	0.00402377	0.003080	1	0
ZNF221	7638	broad.mit.edu	37	19	44470668	44470668	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:44470668C>T	ENST00000251269.5	+	6	1342	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF221_ENST00000592350.1_Silent_p.F338F|ZNF221_ENST00000587682.1_Silent_p.F338F	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F338F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAAAAGCATTCAGATGTGATA	0.413000													12	160					0	0	0.001368	0	0
CFH	3075	broad.mit.edu	37	1	196696041	196696041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:196696041G>T	ENST00000367429.4	+	14	2447	c.2207G>T	c.(2206-2208)gGa>gTa	p.G736V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	736	Sushi 12.				complement activation, alternative pathway	extracellular space		p.G736V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTATTCATGGAGTATGGACC	0.353000													20	87					0.000175454	0.000239891	0.001523	1	0
ERBB4	2066	broad.mit.edu	37	2	212576896	212576896	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:212576896C>A	ENST00000342788.4	-	9	1313	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	ERBB4_ENST00000436443.1_Missense_Mutation_p.D335Y|ERBB4_ENST00000402597.1_Missense_Mutation_p.D335Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	335					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D335Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAATGCCATCACAAGCTGTA	0.353000										TSP Lung(8;0.080)			7	45					0.00198382	0.00260297	0.001984	1	0
FAM189B	10712	broad.mit.edu	37	1	155218083	155218083	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:155218083C>G	ENST00000361361.2	-	11	2100	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q	FAM189B_ENST00000350210.2_Missense_Mutation_p.E435Q|FAM189B_ENST00000368368.3_Missense_Mutation_p.E513Q	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	531						integral to membrane	WW domain binding	p.E531Q(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCAGGCTTCAGAGCAGAGC	0.617000													5	63					0	0	0.001984	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782143	62782143	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:62782143C>G	ENST00000336232.2	-	2	423	c.288G>C	c.(286-288)ctG>ctC	p.L96L	SLC22A8_ENST00000311438.8_Silent_p.L96L|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Silent_p.L96L|SLC22A8_ENST00000545207.1_Silent_p.L5L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	96					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.L96L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAGCCATCCAGGCATGGCT	0.592000													23	138					0	0	0.002299	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	97					0	0	0.000248	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537000													8	78					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94088614	94088614	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:94088614C>G	ENST00000553484.1	+	31	5255	c.5101C>G	c.(5101-5103)Ctg>Gtg	p.L1701V	UNC79_ENST00000393151.2_Missense_Mutation_p.L1679V|UNC79_ENST00000555664.1_Missense_Mutation_p.L1679V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1502V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1679						integral to membrane		p.L1701V(1)|p.L1502V(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						CGTCCTCAGCCTGAGCACAGC	0.527000													8	74					0	0	0.006214	0	0
LASP1	3927	broad.mit.edu	37	17	37070638	37070638	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:37070638G>C	ENST00000318008.6	+	5	749	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	LASP1_ENST00000433206.2_Missense_Mutation_p.E84Q|LASP1_ENST00000435347.3_Missense_Mutation_p.E140Q	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	140						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	p.E140Q(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGAGGGCATGGAGCCAGAGCG	0.632000			T	MLL	AML								3	41					0	0	0.004672	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83362701	83362701	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:83362701G>C	ENST00000262752.2	-	13	1048	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.F347L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	347	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.F347L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCAGGTTTGAAAGGAGGTT	0.299000													3	46					0	0	0.000248	0	0
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr2:175265748A>T	ENST00000272732.6	+	4	454	c.372A>T	c.(370-372)gaA>gaT	p.E124D	SCRN3_ENST00000409673.3_Missense_Mutation_p.E117D	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124					proteolysis		dipeptidase activity	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323000													4	22					0	0	0.000602	0	0
PCBP3	54039	broad.mit.edu	37	21	47361589	47361589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr21:47361589C>T	ENST00000400314.1	+	16	1423	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	PCBP3_ENST00000400304.1_Missense_Mutation_p.T352M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T362M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T336M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T361M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T342M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	362					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.T330M(1)|p.T362M(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCAGGCTGACGTCCGAGGTC	0.652000													14	52					0	0	0.002450	0	0
TMEM145	284339	broad.mit.edu	37	19	42819386	42819386	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:42819386C>G	ENST00000598766.1	+	7	624	c.624C>G	c.(622-624)atC>atG	p.I208M	TMEM145_ENST00000301204.3_Missense_Mutation_p.I184M			Q8NBT3	TM145_HUMAN	transmembrane protein 145	184						integral to membrane		p.I184M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcatcctcatcttcttcctct	0.537000													4	63					0	0	0.000248	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107279	27107279	+	Silent	SNP	G	G	A	rs150377743	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:27107279G>A	ENST00000354348.2	+	1	204	c.192G>A	c.(190-192)gaG>gaA	p.E64E	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E64E(1)		lung(1)	1						TGTTCCTGGAGAACGTGATCC	0.657000			T	BCL6	NHL								17	60					0	0	0.004007	0	0
MIR519D	574480	broad.mit.edu	37	19	54216609	54216609	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:54216609T>A	ENST00000385246.1	+	0	9					NR_030202.1																						GATCCCATGCTGTGACCCTCC	0.438000													9	120					0	0	0.004482	0	0
LLGL2	3993	broad.mit.edu	37	17	73569271	73569271	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:73569271C>T	ENST00000392550.3	+	20	2754	c.2637C>T	c.(2635-2637)ccC>ccT	p.P879P	LLGL2_ENST00000167462.5_Silent_p.P879P|LLGL2_ENST00000577200.1_Silent_p.P879P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	879					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.P879P(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCGCTGCCCCTGCTCAAGC	0.642000													11	47					0	0	0.001368	0	0
OXSM	54995	broad.mit.edu	37	3	25833258	25833258	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:25833258C>G	ENST00000280701.3	+	2	846	c.747C>G	c.(745-747)tcC>tcG	p.S249S	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	249					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.S249S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGGTTTTCCAGAGCCCGGG	0.478000													16	134					0	0	0.003163	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881181	142881181	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:142881181T>C	ENST00000446620.1	+	1	670	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	224					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.F224L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTGATCATGTTCATCCTGAC	0.507000													22	123					0	0	0.002299	0	0
RABEPK	10244	broad.mit.edu	37	9	127990243	127990243	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr9:127990243A>G	ENST00000373538.3	+	6	891	c.581A>G	c.(580-582)cAt>cGt	p.H194R	RABEPK_ENST00000394125.4_Missense_Mutation_p.H194R|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.H143R	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	194					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.H194R(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCTCCCCGGCATGGTCATGTG	0.458000													18	52					0	0	0.008871	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507124	95507124	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:95507124T>A	ENST00000297591.5	-	20	4680	c.4605A>T	c.(4603-4605)ccA>ccT	p.P1535P	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1535					mRNA processing|RNA splicing	nucleus		p.P1535P(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)			CAGCCTGAAATGGAGTGAACC	0.323000													41	156					0	0	0.002222	0	0
HTR4	3360	broad.mit.edu	37	5	147900526	147900526	+	Splice_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:147900526C>T	ENST00000362016.2	-	6	671	c.507_splice	c.e6-1	p.E170_splice	HTR4_ENST00000354217.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000360693.3_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	169					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGACTCCTTTCCTTGAAAAAG	0.478000													15	80					0	0	0.002450	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417566	150417566	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:150417566C>T	ENST00000307194.5	+	3	614	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.A158A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACCTGGCCGGGGGCTCCC	0.647000													9	76					0	0	0.004482	0	0
IRX1	79192	broad.mit.edu	37	5	3599846	3599846	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr5:3599846G>T	ENST00000302006.3	+	2	836	c.784G>T	c.(784-786)Gcc>Tcc	p.A262S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A262S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCTCTTGCCCGGGACCA	0.682000													15	46					2.32078e-09	3.86589e-09	0.003163	1	0
CSPP1	79848	broad.mit.edu	37	8	68070788	68070788	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr8:68070788A>C	ENST00000262210.5	+	18	2364	c.2333A>C	c.(2332-2334)gAg>gCg	p.E778A	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.E433A	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	813						centrosome|microtubule|spindle		p.E778A(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTCagcaggagtatgaagag	0.408000													5	16					0	0	0.001168	0	0
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	T	C	rs111331725	by1000genomes	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr20:29628261T>C	ENST00000278882.3	+	6	643	c.263T>C	c.(262-264)tTt>tCt	p.F88S	FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363000													4	83					0	0	0.000248	0	0
ZNF536	9745	broad.mit.edu	37	19	31039052	31039052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:31039052C>A	ENST00000355537.3	+	4	2673	c.2526C>A	c.(2524-2526)ttC>ttA	p.F842L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F842L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGGGCCTTCAAGGGTCTCC	0.587000													25	76					6.36457e-07	9.78435e-07	0.003954	1	0
TP63	8626	broad.mit.edu	37	3	189612133	189612133	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:189612133G>T	ENST00000264731.3	+	14	1974	c.1885G>T	c.(1885-1887)Ggc>Tgc	p.G629C	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.G544C|TP63_ENST00000440651.2_Missense_Mutation_p.G625C|TP63_ENST00000449992.1_Missense_Mutation_p.G450C|TP63_ENST00000354600.5_Missense_Mutation_p.G535C|TP63_ENST00000456148.1_Missense_Mutation_p.G531C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	629	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G629C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTCAGTGTGGGCTCCAGTGA	0.582000										HNSCC(45;0.13)			18	91					1.33834e-09	2.23538e-09	0.007413	1	0
DDR1	780	broad.mit.edu	37	6	30862315	30862315	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:30862315G>A	ENST00000324771.8	+	13	1928	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	DDR1_ENST00000418800.2_Silent_p.T460T|DDR1_ENST00000376567.2_Silent_p.T460T|DDR1_ENST00000508312.1_Silent_p.T478T|DDR1_ENST00000513240.1_Silent_p.T460T|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Silent_p.T460T|DDR1_ENST00000376575.3_Silent_p.T460T|DDR1_ENST00000376568.3_Silent_p.T460T|DDR1_ENST00000376570.4_Silent_p.T460T|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.T460T|DDR1_ENST00000452441.1_Silent_p.T460T			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	460					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T460T(2)|p.T459T(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGAGCTGACGGTTCACCTCT	0.627000													5	60					0	0	0.000602	0	0
OR8U1	219417	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:56143797G>T	ENST00000302270.1	+	1	698	c.698G>T	c.(697-699)gGa>gTa	p.G233V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.G233V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCAGCTGAGGGAAGACAGAAG	0.463000													18	125					1.99824e-07	3.15028e-07	0.004990	1	0
ZNF737	100129842	broad.mit.edu	37	19	20727531	20727531	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:20727531G>A	ENST00000427401.4	-	4	1572	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	493					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S492F(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGGATAAAGGAGCGCTTAAA	0.423000													6	34					0	0	0.001168	0	0
IARS2	55699	broad.mit.edu	37	1	220287726	220287726	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:220287726G>C	ENST00000366922.1	+	12	1665	c.1334G>C	c.(1333-1335)cGg>cCg	p.R445P	IARS2_ENST00000302637.5_Missense_Mutation_p.R517P			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	517					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.R517P(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGGACAGGCGGCCATATTGG	0.383000													44	111					0	0	0.002522	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40666456	40666456	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr17:40666456C>T	ENST00000343619.4	+	21	2521	c.2398C>T	c.(2398-2400)Ctc>Ttc	p.L800F	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L757F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L800F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L751F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L794F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L446F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L801F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	800					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L794F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGGCCTTTCTCCACGCACT	0.612000													30	143					0	0	0.002096	0	0
SEC31A	22872	broad.mit.edu	37	4	83791564	83791564	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:83791564T>C	ENST00000432794.1	-	8	959	c.796A>G	c.(796-798)Att>Gtt	p.I266V	SEC31A_ENST00000326950.5_Missense_Mutation_p.I266V|SEC31A_ENST00000508479.1_Missense_Mutation_p.I266V|SEC31A_ENST00000395310.2_Missense_Mutation_p.I266V|SEC31A_ENST00000513858.1_Missense_Mutation_p.I266V|SEC31A_ENST00000509142.1_Missense_Mutation_p.I266V|SEC31A_ENST00000348405.4_Missense_Mutation_p.I266V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000264405.5_Missense_Mutation_p.I38V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I261V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I266V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I266V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I266V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I266V|SEC31A_ENST00000355196.2_Missense_Mutation_p.I266V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I266V|SEC31A_ENST00000505984.1_Missense_Mutation_p.I266V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	266	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I266V(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTCCAAGCAATTGCCAAAATC	0.388000													7	118					0	0	0.003080	0	0
CRB1	23418	broad.mit.edu	37	1	197326027	197326027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:197326027G>A	ENST00000367400.3	+	5	1190	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	CRB1_ENST00000538660.1_Missense_Mutation_p.G352E|CRB1_ENST00000543483.1_Missense_Mutation_p.G51E|CRB1_ENST00000535699.1_Missense_Mutation_p.G283E|CRB1_ENST00000367399.2_Missense_Mutation_p.G240E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	352	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G352E(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						CAGTCCAATGGGGAATGTGTG	0.473000													6	87					0	0	0.001168	0	0
URB2	9816	broad.mit.edu	37	1	229771885	229771885	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr1:229771885C>G	ENST00000258243.2	+	4	1661	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	509						nucleolus		p.Q509E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCTCCAAGTCAGATCCTGGA	0.582000													5	171					0	0	0.000602	0	0
ZNF492	57615	broad.mit.edu	37	19	22847414	22847414	+	Missense_Mutation	SNP	G	G	T	rs74170725		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr19:22847414G>T	ENST00000456783.2	+	4	1187	c.943G>T	c.(943-945)Ggt>Tgt	p.G315C		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G315F(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)				TGAAGAATGTGGTAAGGCCTT	0.383000													11	52					4.68919e-08	7.50756e-08	0.008291	1	0
CSMD2	114784	broad.mit.edu	37	1	34049270	34049270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:34049270delC	ENST00000373381.4	-	47	7388	c.7212delG	c.(7210-7212)aafs	p.K2404fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2406	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCATATTGCTTCTCGCTGA	0.502													23	209	---	---	---	---					
LAMB3	3914	broad.mit.edu	37	1	209799153	209799153	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:209799153delT	ENST00000391911.1	-	13	2205	c.1816delA	c.(1816-1818)ccfs	p.T606fs	LAMB3_ENST00000367030.3_Frame_Shift_Del_p.T606fs|LAMB3_ENST00000356082.4_Frame_Shift_Del_p.T606fs	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	606	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGCTGGCGGTGGCATTGCGG	0.622													13	70	---	---	---	---					
SLC6A11	6538	broad.mit.edu	37	3	10861452	10861466	+	In_Frame_Del	DEL	CATCCTGGCATGGGC	CATCCTGGCATGGGC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:10861452_10861466delCATCCTGGCATGGGC	ENST00000254488.2	+	3	513_527	c.447_461delCATCCTGGCATGGGC	c.(445-462)atc>at	p.IILAWA149del	SLC6A11_ENST00000454147.1_In_Frame_Del_p.IILAWA149del	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	149					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTACATCATCATCCTGGCATGGGCCATTTTTTAC	0.488													12	153	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	RNA	INS	-	-	TT	rs145057012		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:105918246_105918247insTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317													3	6	---	---	---	---					
HADH	3033	broad.mit.edu	37	4	108948874	108948875	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:108948874_108948875insT	ENST00000505878.1	+	7	952_953	c.679_680insT	c.(679-681)ggtfs	p.G227fs	HADH_ENST00000454409.2_Frame_Shift_Ins_p.G227fs|HADH_ENST00000403312.1_Frame_Shift_Ins_p.G282fs|HADH_ENST00000603302.1_Frame_Shift_Ins_p.G223fs|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Frame_Shift_Ins_p.G223fs			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	223					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GAACCGCCTCCTGGTTCCATAC	0.470													28	89	---	---	---	---					
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													2	4	---	---	---	---					
TRIM15	89870	broad.mit.edu	37	6	30131581	30131582	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:30131581_30131582delCC	ENST00000376694.4	+	1	589_590	c.120_121delCC	c.(118-123)ctccfs	p.LP40fs	TRIM15_ENST00000376688.1_Frame_Shift_Del_p.LP40fs	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	40					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGCTCTGCCTCCCCGCGCTCTC	0.663													9	52	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35424046	35424046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:35424046delG	ENST00000229769.2	+	2	956	c.771delG	c.(769-771)atfs	p.M257fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	257	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGCCTGTCATGGCAGTTAAGA	0.498			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				48	180	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84922740	84922740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:84922740delT	ENST00000403245.3	-	6	620	c.506delA	c.(505-507)atfs	p.N169fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.N93fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	169					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTTGGCTTGATTACTGGaaaa	0.284													2	4	---	---	---	---					
STEAP1	26872	broad.mit.edu	37	7	89790346	89790352	+	Frame_Shift_Del	DEL	ATATTTT	ATATTTT	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:89790346_89790352delATATTTT	ENST00000297205.2	+	3	512_518	c.312_318delATATTTT	c.(310-318)cafs	p.QYF104fs	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	104					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CCCATCAACAATATTTTTATAAAATTC	0.396													26	95	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107569639	107569640	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:107569639_107569640insTT	ENST00000393561.1	-	29	5012_5013	c.4828_4829insAA	c.(4828-4830)agafs	p.R1610fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.R1586fs			P07942	LAMB1_HUMAN	laminin, beta 1	1586	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTAACATCTGTTGCACTTTTG	0.386													20	138	---	---	---	---					
LPAR1	1902	broad.mit.edu	37	9	113704241	113704241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:113704241delA	ENST00000374431.3	-	4	636	c.253delT	c.(253-255)atfs	p.Y86fs	LPAR1_ENST00000358883.4_Frame_Shift_Del_p.Y86fs|LPAR1_ENST00000541779.1_Frame_Shift_Del_p.Y87fs|LPAR1_ENST00000538760.1_Frame_Shift_Del_p.Y87fs|LPAR1_ENST00000374430.2_Frame_Shift_Del_p.Y86fs	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	86					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTAGGTAATAAATAGGAAAA	0.458													21	109	---	---	---	---					
OR52B4	143496	broad.mit.edu	37	11	4389086	4389087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:4389086_4389087insA	ENST00000408920.2	-	1	529_530	c.439_440insT	c.(439-441)tgtfs	p.C147fs		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACAGTCACACAAATTTTCTTG	0.381													14	85	---	---	---	---					
IFT46	56912	broad.mit.edu	37	11	118430510	118430512	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:118430510_118430512delTCC	ENST00000264020.2	-	3	410_412	c.33_35delGGA	c.(31-36)gaa>ga	p.EE11del	IFT46_ENST00000530872.1_In_Frame_Del_p.EE11del|IFT46_ENST00000264021.3_In_Frame_Del_p.EE11del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	11					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CTTGTTATTTTCCTCTTCACACT	0.374													10	59	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124323158	124323158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:124323158delC	ENST00000409039.3	+	28	4729	c.4704delC	c.(4702-4704)ttfs	p.F1570fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1570	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TCCCAAGGTTCTTCTTCATTT	0.527													17	107	---	---	---	---					
LOC101928215	101928215	broad.mit.edu	37	16	29118689	29118689	+	RNA	DEL	G	G	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:29118689delG	ENST00000562618.1	-	0	343				RRN3P2_ENST00000564580.1_RNA																							CGCCAGACCTGGGGCCAGGTC	0.652													2	4	---	---	---	---					
NLGN4X	57502	broad.mit.edu	37	X	5821268	5821269	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:5821268_5821269insA	ENST00000381095.3	-	5	2077_2078	c.1450_1451insT	c.(1450-1452)ggcfs	p.G484fs	NLGN4X_ENST00000538097.1_Frame_Shift_Ins_p.G484fs|NLGN4X_ENST00000381093.2_Frame_Shift_Ins_p.G504fs|NLGN4X_ENST00000381092.1_Frame_Shift_Ins_p.G484fs|NLGN4X_ENST00000275857.6_Frame_Shift_Ins_p.G484fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	484					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAATCTGCCCAGCTGGGCTTC	0.594													12	118	---	---	---	---					
ERCC6L	54821	broad.mit.edu	37	X	71426054	71426055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:71426054_71426055insT	ENST00000373657.1	-	3	2795_2796	c.2193_2194insA	c.(2191-2196)caaggcfs	p.G732fs	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.G855fs			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	855					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCAGTGCCTCTTGCTTAGGCC	0.366													10	70	---	---	---	---					
SLC6A11	6538	broad.mit.edu	37	3	10861452	10861466	+	In_Frame_Del	DEL	CATCCTGGCATGGGC	CATCCTGGCATGGGC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr3:10861452_10861466delCATCCTGGCATGGGC	ENST00000254488.2	+	3	513_527	c.447_461delCATCCTGGCATGGGC	c.(445-462)atc>at	p.IILAWA149del	SLC6A11_ENST00000454147.1_In_Frame_Del_p.IILAWA149del	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	149					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTACATCATCATCCTGGCATGGGCCATTTTTTAC	0.488													12	153	---	---	---	---					
HADH	3033	broad.mit.edu	37	4	108948874	108948875	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr4:108948874_108948875insT	ENST00000505878.1	+	7	952_953	c.679_680insT	c.(679-681)ggtfs	p.G227fs	HADH_ENST00000403312.1_Frame_Shift_Ins_p.G282fs|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000309522.3_Frame_Shift_Ins_p.G223fs|HADH_ENST00000454409.2_Frame_Shift_Ins_p.G227fs|HADH_ENST00000603302.1_Frame_Shift_Ins_p.G223fs			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	223					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GAACCGCCTCCTGGTTCCATAC	0.470													28	89	---	---	---	---					
TRIM15	89870	broad.mit.edu	37	6	30131581	30131582	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:30131581_30131582delCC	ENST00000376694.4	+	1	589_590	c.120_121delCC	c.(118-123)ctccfs	p.LP40fs	TRIM15_ENST00000376688.1_Frame_Shift_Del_p.LP40fs	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	40					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGCTCTGCCTCCCCGCGCTCTC	0.663													9	52	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84922740	84922740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr6:84922740delT	ENST00000403245.3	-	6	620	c.506delA	c.(505-507)atfs	p.N169fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.N93fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	169					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTTGGCTTGATTACTGGaaaa	0.284													2	4	---	---	---	---					
STEAP1	26872	broad.mit.edu	37	7	89790346	89790352	+	Frame_Shift_Del	DEL	ATATTTT	ATATTTT	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:89790346_89790352delATATTTT	ENST00000297205.2	+	3	512_518	c.312_318delATATTTT	c.(310-318)cafs	p.QYF104fs	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	104					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CCCATCAACAATATTTTTATAAAATTC	0.396													26	95	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107569639	107569640	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr7:107569639_107569640insTT	ENST00000393561.1	-	29	5012_5013	c.4828_4829insAA	c.(4828-4830)agafs	p.R1610fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.R1586fs			P07942	LAMB1_HUMAN	laminin, beta 1	1586	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTAACATCTGTTGCACTTTTG	0.386													20	138	---	---	---	---					
LPAR1	1902	broad.mit.edu	37	9	113704241	113704241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr9:113704241delA	ENST00000374431.3	-	4	636	c.253delT	c.(253-255)atfs	p.Y86fs	LPAR1_ENST00000538760.1_Frame_Shift_Del_p.Y87fs|LPAR1_ENST00000541779.1_Frame_Shift_Del_p.Y87fs|LPAR1_ENST00000374430.2_Frame_Shift_Del_p.Y86fs|LPAR1_ENST00000358883.4_Frame_Shift_Del_p.Y86fs	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	86					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTAGGTAATAAATAGGAAAA	0.458													21	109	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	3	---	---	---	---					
OR52B4	143496	broad.mit.edu	37	11	4389086	4389087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:4389086_4389087insA	ENST00000408920.2	-	1	529_530	c.439_440insT	c.(439-441)tgtfs	p.C147fs		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACAGTCACACAAATTTTCTTG	0.381													14	85	---	---	---	---					
IFT46	56912	broad.mit.edu	37	11	118430510	118430512	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr11:118430510_118430512delTCC	ENST00000264020.2	-	3	410_412	c.33_35delGGA	c.(31-36)gaa>ga	p.EE11del	IFT46_ENST00000530872.1_In_Frame_Del_p.EE11del|IFT46_ENST00000264021.3_In_Frame_Del_p.EE11del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	11					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CTTGTTATTTTCCTCTTCACACT	0.374													10	59	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124323158	124323158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr12:124323158delC	ENST00000409039.3	+	28	4729	c.4704delC	c.(4702-4704)ttfs	p.F1570fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1570	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TCCCAAGGTTCTTCTTCATTT	0.527													17	107	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													3	4	---	---	---	---					
NLGN4X	57502	broad.mit.edu	37	X	5821268	5821269	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:5821268_5821269insA	ENST00000381095.3	-	5	2077_2078	c.1450_1451insT	c.(1450-1452)ggcfs	p.G484fs	NLGN4X_ENST00000538097.1_Frame_Shift_Ins_p.G484fs|NLGN4X_ENST00000381092.1_Frame_Shift_Ins_p.G484fs|NLGN4X_ENST00000275857.6_Frame_Shift_Ins_p.G484fs|NLGN4X_ENST00000381093.2_Frame_Shift_Ins_p.G504fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	484					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAATCTGCCCAGCTGGGCTTC	0.594													12	118	---	---	---	---					
ERCC6L	54821	broad.mit.edu	37	X	71426054	71426055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	d7bc2a5d-4275-4d19-b6c2-258d138c82d1	g.chrX:71426054_71426055insT	ENST00000373657.1	-	3	2795_2796	c.2193_2194insA	c.(2191-2196)caaggcfs	p.G732fs	ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.G855fs|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	855					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCAGTGCCTCTTGCTTAGGCC	0.366													10	70	---	---	---	---