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
MROH5	389690	broad.mit.edu	37	8	142446018	142446018	+	RNA	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:142446018C>T	ENST00000606664.1	+	0	1374				MROH5_ENST00000430863.1_RNA																							CTGACCGTGGCGACAGCTGGG	0.672000													33	24					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804561	22804561	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr21:22804561G>A	ENST00000400546.1	+	12	1863	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	NCAM2_ENST00000284894.7_Silent_p.A396A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	538	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.A538A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGAAGTAGCGTCAGAAATCT	0.433000													10	5					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077452	57077452	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:57077452C>T	ENST00000532437.1	-	5	3044	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	TNKS1BP1_ENST00000358252.3_Silent_p.K911K|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	911	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGGTCCCTCTTCCCCAAAT	0.562000													53	47					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80762743	80762743	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:80762743G>A	ENST00000533983.1	+	5	685	c.346G>A	c.(346-348)Gcg>Acg	p.A116T	ARNT2_ENST00000303329.4_Missense_Mutation_p.A127T|ARNT2_ENST00000527771.1_Missense_Mutation_p.A116T|ARNT2_ENST00000531595.3_3'UTR			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	127	Helix-loop-helix motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CACCGATGGCGCGTACAAGCC	0.572000													11	47					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958852	50958852	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:50958852C>T	ENST00000357701.5	+	20	2340	c.2289C>T	c.(2287-2289)atC>atT	p.I763I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	763	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAACAGGATCGGGGCAGGTG	0.612000													34	68					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152690150	152690150	+	Missense_Mutation	SNP	G	G	A	rs114954026	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:152690150G>A	ENST00000367255.5	-	61	10365	c.9764C>T	c.(9763-9765)tCg>tTg	p.S3255L	SYNE1_ENST00000341594.5_Missense_Mutation_p.S3294L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3262L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3262L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3255L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3255					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACAGCTGCGACACTCTGTG	0.493000										HNSCC(10;0.0054)			12	27					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53565383	53565383	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:53565383G>A	ENST00000342160.3	-	76	12368	c.11911C>T	c.(11911-11913)Cgg>Tgg	p.R3971W	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3971W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3971					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGGACTGCCGTAGGATCTGG	0.517000													6	9					0	0	1	0	0
PMAIP1	5366	broad.mit.edu	37	18	57569953	57569953	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr18:57569953C>T	ENST00000269518.9	+	3	446	c.284C>T	c.(283-285)tCt>tTt	p.S95F	PMAIP1_ENST00000316660.6_Silent_p.L45L			Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				ACTTCTGAATCTGATATCCAA	0.448000													10	3					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565212	169565212	+	Silent	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:169565212G>T	ENST00000263686.6	-	12	2089	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	SELP_ENST00000367792.2_Silent_p.L500L|SELP_ENST00000458599.2_Silent_p.L500L|SELP_ENST00000367791.2_Silent_p.L498L|SELP_ENST00000367794.2_Silent_p.L622L|SELP_ENST00000367788.2_Silent_p.L622L|SELP_ENST00000367786.2_Silent_p.L622L|SELP_ENST00000367793.2_Silent_p.L622L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	684	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCTGCAGCTGAGAGTGCTGT	0.493000													100	359					9.53958e-58	1.0593e-57	1	1	0
PGR	5241	broad.mit.edu	37	11	100998779	100998779	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:100998779C>T	ENST00000325455.5	-	1	2476	c.1023G>A	c.(1021-1023)ccG>ccA	p.P341P	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P341P	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	341	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACTCCGCGGCGGGGCAAAGG	0.692000													17	18					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17257073	17257073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:17257073G>A	ENST00000375541.5	+	7	902	c.833G>A	c.(832-834)tGg>tAg	p.W278*	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	278					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCGGCGTGGAGGCGCGAG	0.662000													4	23					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	18					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11982665	11982665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:11982665G>A	ENST00000376576.3	-	2	2105	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	KIAA2013_ENST00000376572.3_Intron			Q8IYS2	K2013_HUMAN	KIAA2013	0						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGGCCTCGGGTTTCGACC	0.622000													4	7					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30722892	30722892	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:30722892G>C	ENST00000262518.4	+	11	1704	c.1319G>C	c.(1318-1320)gGt>gCt	p.G440A	SRCAP_ENST00000344771.4_Splice_Site_p.G440A|SRCAP_ENST00000395059.2_Splice_Site_p.G440A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	440	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCTTCCAGGTGAGCTTTCC	0.488000													13	48					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803118	137803118	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:137803118G>A	ENST00000239938.4	+	2	1252	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	327					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TACCCCAACCGGCCCAGCAAG	0.652000													48	72					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156352013	156352013	+	Missense_Mutation	SNP	T	T	C	rs752641	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:156352013T>C	ENST00000537040.1	+	4	669	c.631T>C	c.(631-633)Tac>Cac	p.Y211H	RHBG_ENST00000400992.2_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000494874.1_Intron|RHBG_ENST00000368249.1_Intron			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCCAACCCGTACTGCAGTCG	0.522000													5	69					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623555	34623555	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:34623555G>A	ENST00000378909.2	-	4	824	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	244	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGTCCTGAGCGCCCCGAGGGG	0.736000													11	10					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167542	97167542	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:97167542G>A	ENST00000389672.5	+	7	1900	c.1862G>A	c.(1861-1863)aGt>aAt	p.S621N	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	526						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGGCTACAGTCAGAAATTT	0.388000													24	24					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101832	82101832	+	Missense_Mutation	SNP	C	C	T	rs140926616	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:82101832C>T	ENST00000199936.4	+	2	516	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	108					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTGGGCTTCACGGTATTTGCC	0.542000													21	44					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869071	174869071	+	Silent	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:174869071G>C	ENST00000393752.2	-	2	2024	c.1032C>G	c.(1030-1032)ctC>ctG	p.L344L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	344					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGCATCCTAAGAGGGTTGAAA	0.463000													26	27					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271101	140271101	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:140271101C>T	ENST00000370526.2	-	1	209	c.106G>A	c.(106-108)Gag>Aag	p.E36K	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	36					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CTGGCCCTCTCGCACACCAGC	0.657000													7	13					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436742	175436742	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:175436742G>T	ENST00000392547.2	-	5	890	c.791C>A	c.(790-792)cCc>cAc	p.P264H	WIPF1_ENST00000359761.3_Missense_Mutation_p.P264H|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P264H|WIPF1_ENST00000409891.1_Missense_Mutation_p.P264H|WIPF1_ENST00000272746.5_Missense_Mutation_p.P264H|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P264H	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	264	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGTGGAGGGGGTTTGTCATC	0.642000													6	20					0.0293803	0.0298755	1	1	0
FCN2	2220	broad.mit.edu	37	9	137777212	137777212	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:137777212C>T	ENST00000350339.2	+	4	329	c.315C>T	c.(313-315)acC>acT	p.T105T	FCN2_ENST00000291744.6_Splice_Site_p.T143T	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	143	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGCTGGACCGTGAGTGTGG	0.652000													9	13					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227224	75227224	+	Silent	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:75227224G>T	ENST00000342232.4	-	2	1051	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	337					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTATCCCACGGACCAGAATAT	0.468000													19	129					5.03518e-11	5.36099e-11	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32633059	32633059	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:32633059C>T	ENST00000242310.4	-	1	2608	c.2519G>A	c.(2518-2520)cGg>cAg	p.R840Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	840					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCCGTGGCCGATCTTTACT	0.448000													6	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179655493	179655493	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:179655493G>A	ENST00000589042.1	-	11	1966	c.1742C>T	c.(1741-1743)cCg>cTg	p.P581L	TTN_ENST00000591111.1_Missense_Mutation_p.P581L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P581L|TTN_ENST00000342992.6_Missense_Mutation_p.P581L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	581							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAGCTCCCGGGACTGTTTC	0.413000													20	64					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152734665	152734665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:152734665G>A	ENST00000370210.1	-	3	893	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Nonsense_Mutation_p.Q65*|HAUS7_ENST00000370211.4_Nonsense_Mutation_p.Q65*|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000334497.2_5'UTR			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	65					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						AGCAGTTCCTGAATTGTCTTT	0.502000													44	37					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835880	82835880	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:82835880C>T	ENST00000265077.3	+	8	7623	c.7058C>T	c.(7057-7059)aCg>aTg	p.T2353M	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1366M|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2353	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTTTCTCCACGGACATCGGA	0.448000													12	14					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47639699	47639699	+	Splice_Site	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:47639699G>T	ENST00000406134.1	+	4	854	c.792G>T	c.(790-792)caG>caT	p.Q264H	MSH2_ENST00000543555.1_Splice_Site_p.Q198H|MSH2_ENST00000233146.2_Splice_Site_p.Q264H			P43246	MSH2_HUMAN	mutS homolog 2	264					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGAGAATCAGGTACATGGAT	0.299000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	9					5.9392e-07	6.17813e-07	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60902720	60902720	+	Silent	SNP	G	G	A	rs146887751		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr20:60902720G>A	ENST00000252999.3	-	37	4869	c.4803C>T	c.(4801-4803)aaC>aaT	p.N1601N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1601	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCTGCACGTTCTCCTAGG	0.617000													17	55					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764560	109764560	+	RNA	SNP	T	T	C	rs112201345	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:109764560T>C	ENST00000602699.1	+	0	1021					NR_002718.2																						CAGCGTGTGCTGCCCATGGGA	0.577000													5	40					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41466748	41466748	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:41466748C>T	ENST00000372621.4	+	10	1561	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	CTPS1_ENST00000372616.1_Silent_p.P351P|CTPS1_ENST00000541520.1_Silent_p.P120P	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	351	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	AAGAAGAGCCCGTGCGCTACC	0.507000													8	22					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878451	234878451	+	Splice_Site	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:234878451G>A	ENST00000324695.4	+	16	2178	c.2138G>A	c.(2137-2139)aGg>aAg	p.R713K	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	713						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTATCATTTAGGTACAAACCA	0.428000													33	37					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65772705	65772705	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:65772705G>A	ENST00000341861.5	-	10	2779	c.1199C>T	c.(1198-1200)aCt>aTt	p.T400I	DPP8_ENST00000321118.7_Missense_Mutation_p.T400I|DPP8_ENST00000559233.1_Missense_Mutation_p.T400I|DPP8_ENST00000321147.6_Missense_Mutation_p.T400I|DPP8_ENST00000300141.6_Missense_Mutation_p.T384I|DPP8_ENST00000358939.4_Missense_Mutation_p.T384I|DPP8_ENST00000339244.5_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	400					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTAGGCGAGTCTGGGAGCG	0.383000													12	8					0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44333210	44333210	+	Silent	SNP	A	A	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr20:44333210A>G	ENST00000305479.2	+	2	324	c.216A>G	c.(214-216)tcA>tcG	p.S72S	WFDC10B_ENST00000330523.5_Intron|WFDC10B_ENST00000335769.2_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	72						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TCTGTTCATCAGAAACATTTC	0.468000													28	83					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99339844	99339844	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr4:99339844T>G	ENST00000408927.3	+	10	1189	c.1076T>G	c.(1075-1077)gTa>gGa	p.V359G	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V311G|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V360G|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V268G|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V310G|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V360G	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	359							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATGGGATTGTAGAAAAACTT	0.338000			T	NUP98	T-ALL								7	15					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466610	44466610	+	Missense_Mutation	SNP	G	G	A	rs76038188	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:44466610G>A	ENST00000372306.3	-	11	1592	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	643						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGGAGGCCGGAGGCTCGAG	0.622000													5	34					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													7	17					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627000													38	38					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703809	48703809	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:48703809C>T	ENST00000352832.5	+	34	6822	c.6450C>T	c.(6448-6450)agC>agT	p.S2150S	CACNA1G_ENST00000507336.1_Silent_p.S2266S|CACNA1G_ENST00000512389.1_Silent_p.S2173S|CACNA1G_ENST00000359106.5_Silent_p.S2277S|CACNA1G_ENST00000503485.1_Silent_p.S2150S|CACNA1G_ENST00000515765.1_Silent_p.S2221S|CACNA1G_ENST00000515411.1_Silent_p.S2214S|CACNA1G_ENST00000514717.1_Silent_p.S2127S|CACNA1G_ENST00000358244.5_Silent_p.S2071S|CACNA1G_ENST00000354983.4_Silent_p.S2243S|CACNA1G_ENST00000502264.1_Silent_p.S2206S|CACNA1G_ENST00000507609.1_Silent_p.S2177S|CACNA1G_ENST00000360761.4_Silent_p.S2161S|CACNA1G_ENST00000442258.2_Silent_p.S2143S|CACNA1G_ENST00000510115.1_Silent_p.S2198S|CACNA1G_ENST00000510366.1_Silent_p.S2132S|CACNA1G_ENST00000429973.2_Silent_p.S2166S|CACNA1G_ENST00000505165.1_Silent_p.S2105S|CACNA1G_ENST00000514079.1_Silent_p.S2191S|CACNA1G_ENST00000515165.1_Silent_p.S2184S|CACNA1G_ENST00000507896.1_Silent_p.S2094S|CACNA1G_ENST00000514181.1_Silent_p.S2159S|CACNA1G_ENST00000513964.1_Silent_p.S2139S|CACNA1G_ENST00000513689.2_Silent_p.S2187S|CACNA1G_ENST00000507510.2_Silent_p.S2232S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2277					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTGGACAGCGGCTCCCAAC	0.652000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31663882	31663882	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr22:31663882C>G	ENST00000331728.4	+	10	1363	c.1249C>G	c.(1249-1251)Ctg>Gtg	p.L417V	LIMK2_ENST00000406516.1_Missense_Mutation_p.L339V|LIMK2_ENST00000333611.4_Missense_Mutation_p.L396V|LIMK2_ENST00000444929.2_Missense_Mutation_p.L171V|LIMK2_ENST00000340552.4_Missense_Mutation_p.L396V	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	417	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAGGACTTTCTGCGCAGTAT	0.527000													19	45					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154698440	154698440	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:154698440C>T	ENST00000271915.4	-	5	1968	c.1653G>A	c.(1651-1653)gcG>gcA	p.A551A	KCNN3_ENST00000358505.2_Silent_p.A238A|KCNN3_ENST00000361147.4_Silent_p.A246A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGTGCTTCTCCGCTTTGGTGA	0.572000													9	27					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24045163	24045163	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr14:24045163G>A	ENST00000397118.3	-	4	1784	c.882C>T	c.(880-882)ttC>ttT	p.F294F	JPH4_ENST00000356300.4_Silent_p.F294F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	294					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTGACGCCGAAGCCGCTGC	0.781000													3	17					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72866866	72866866	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:72866866C>T	ENST00000261180.4	+	5	1451	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	452					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T452M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GACCTTGTGACGCCTGTGTGG	0.388000													44	39					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446550	92446550	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:92446550T>G	ENST00000370389.2	+	10	2270	c.1346T>G	c.(1345-1347)aTa>aGa	p.I449R	BRDT_ENST00000399546.2_Missense_Mutation_p.I522R|BRDT_ENST00000402388.1_Missense_Mutation_p.I522R|BRDT_ENST00000362005.3_Missense_Mutation_p.I522R|BRDT_ENST00000394530.3_Missense_Mutation_p.I476R	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGTCTGAATATAAACAAACTC	0.368000													11	11					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733684	152733684	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:152733684G>C	ENST00000368773.1	+	2	1678	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	KPRP_ENST00000606109.1_Missense_Mutation_p.E540D	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	540						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGGGCAAGAGAGTGGTGCTG	0.577000													19	52					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43175204	43175204	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:43175204A>G	ENST00000509634.1	+	7	2195	c.1739A>G	c.(1738-1740)gAg>gGg	p.E580G	ZNF131_ENST00000306938.4_Missense_Mutation_p.E580G|ZNF131_ENST00000509156.1_Missense_Mutation_p.E614G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.E580G|ZNF131_ENST00000399534.1_Missense_Mutation_p.E614G			P52739	ZN131_HUMAN	zinc finger protein 131	614						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCAGAGAATGAGGACAGAACA	0.413000													9	9					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640305	156640305	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:156640305G>A	ENST00000368223.3	-	4	3807	c.3675C>T	c.(3673-3675)taC>taT	p.Y1225Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1225	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATCGGGGTGTACGTTGGGC	0.642000													29	120					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	79082469	79082469	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:79082469G>A	ENST00000354212.4	-	1	421	c.168C>T	c.(166-168)agC>agT	p.S56S	MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Silent_p.S56S|MAGI2_ENST00000522391.1_Silent_p.S56S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	56	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATTTGCTGCCGCTCTCATAGG	0.642000													22	67					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346111	29346111	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:29346111C>T	ENST00000558402.1	+	5	623	c.24C>T	c.(22-24)agC>agT	p.S8S	APBA2_ENST00000561069.1_Silent_p.S8S|APBA2_ENST00000411764.1_Silent_p.S8S|APBA2_ENST00000558330.1_Silent_p.S8S|APBA2_ENST00000558259.1_Silent_p.S8S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	8					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCTTGAGAGCGTGGGGAGCG	0.612000													5	18					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271205	26271205	+	Silent	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:26271205C>A	ENST00000305910.3	-	1	407	c.408G>T	c.(406-408)gcG>gcT	p.A136A		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	136					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GAAACCTCTACGCTCTCTCCC	0.473000													22	5					7.45023e-12	7.97924e-12	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83290125	83290125	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:83290125G>T	ENST00000549919.1	+	4	2970	c.1165G>T	c.(1165-1167)Gtt>Ttt	p.V389F	TMTC2_ENST00000548305.1_Missense_Mutation_p.V395F|TMTC2_ENST00000321196.3_Missense_Mutation_p.V395F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	395						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAACATTGTTGTTCTGTCTTT	0.393000													73	7					6.14238e-36	6.73801e-36	1	1	0
MITF	4286	broad.mit.edu	37	3	70014279	70014279	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:70014279C>T	ENST00000352241.4	+	10	1606	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	MITF_ENST00000314589.5_Silent_p.D465D|MITF_ENST00000394351.3_Silent_p.D380D|MITF_ENST00000314557.6_Silent_p.D374D|MITF_ENST00000472437.1_Silent_p.D429D|MITF_ENST00000531774.1_Silent_p.D318D|MITF_ENST00000394355.2_Silent_p.D456D|MITF_ENST00000448226.2_Silent_p.D487D|MITF_ENST00000328528.6_Silent_p.D480D	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	487					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCCTGATGGACGACACCCTTT	0.537000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						13	39					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934152	44934152	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:44934152G>A	ENST00000291187.4	-	6	1108	c.786C>T	c.(784-786)aaC>aaT	p.N262N	ZNF229_ENST00000588931.1_Silent_p.N268N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTCTGTATTCGTTACTTTTCA	0.423000													5	31					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399524	107399524	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:107399524G>A	ENST00000440859.3	+	6	1844	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	CBLL1_ENST00000222597.2_Silent_p.G458G	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CACCAAGAGGGCCACCACCAC	0.507000													34	80					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197636594	197636594	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:197636594G>A	ENST00000263956.3	-	15	2227	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	713						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACATCTTGGGAGTGCATGGT	0.403000													34	22					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108986044	108986044	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:108986044G>A	ENST00000392806.3	-	2	284	c.116C>T	c.(115-117)gCg>gTg	p.A39V		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	39						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCCACTACCCGCCACATCCTC	0.706000													6	7					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31435937	31435937	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:31435937C>T	ENST00000511367.2	-	24	3221	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	DROSHA_ENST00000344624.3_Missense_Mutation_p.E993K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E956K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E956K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	993	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AATCCTCCTTCTTCCAGACTA	0.408000													12	27					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97321411	97321411	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:97321411G>A	ENST00000375337.3	-	7	895	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	277	Substrate binding (By similarity).				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TACAGGAGCCGGAGCTGTGGA	0.597000													13	22					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137626404	137626404	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:137626404G>A	ENST00000323760.6	-	9	1066	c.788C>T	c.(787-789)tCt>tTt	p.S263F	CDC25C_ENST00000514555.1_Missense_Mutation_p.S233F|CDC25C_ENST00000356505.3_Missense_Mutation_p.S233F|CDC25C_ENST00000348983.3_Missense_Mutation_p.S190F|CDC25C_ENST00000357274.3_Missense_Mutation_p.S220F|CDC25C_ENST00000415130.2_Missense_Mutation_p.S190F|CDC25C_ENST00000513970.1_Missense_Mutation_p.S263F	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	263					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTCACACAGAGAGACTGTCTT	0.463000													12	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641976	179641976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:179641976G>A	ENST00000589042.1	-	27	4938	c.4714C>T	c.(4714-4716)Cga>Tga	p.R1572*	TTN_ENST00000591111.1_Nonsense_Mutation_p.R1572*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1526*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R1526*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1526*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1572*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1572*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1307	Ig-like 7.		Q -> R (in dbSNP:rs12476289).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1526*(3)|p.R1572*(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCAAGTCGGGAACCTTCC	0.393000													19	32					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492102	103492102	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr13:103492102C>T	ENST00000602836.1	+	9	1313	c.1313C>T	c.(1312-1314)cCg>cTg	p.P438L	BIVM_ENST00000257336.1_Missense_Mutation_p.R467W|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.R245W	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GCGTCTGGGCCGGTCTTTCAG	0.463000													26	59					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406976	46406976	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:46406976C>T	ENST00000433765.2	-	1	1131	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	378					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.A378T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCGATGCTGGCGAACTTGCGG	0.612000													53	31					0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560744	62560744	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr20:62560744G>A	ENST00000360864.4	+	3	340	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A63T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	63	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GATCAACAACGCGCACGCCAT	0.547000													16	63					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314855	48314855	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:48314855G>A	ENST00000435803.1	+	17	5616	c.5592G>A	c.(5590-5592)ctG>ctA	p.L1864L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1864					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTCCACCTGTCTCCCCAAG	0.423000													9	16					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89131789	89131789	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr14:89131789C>T	ENST00000554922.1	-	22	3417	c.3169G>A	c.(3169-3171)Gta>Ata	p.V1057I	EML5_ENST00000352093.5_Missense_Mutation_p.V1019I|EML5_ENST00000380664.5_Missense_Mutation_p.V1057I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1057						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGAGACCTACGGCTAAAGCT	0.378000													11	13					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064538	7064538	+	Silent	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:7064538G>T	ENST00000299481.4	+	4	1627	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	427	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGAGAAGACTGTGCCAAGTCG	0.438000													38	29					3.21399e-22	3.48343e-22	1	1	0
PLCXD1	55344	broad.mit.edu	37	X	208186	208186	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:208186G>A	ENST00000381657.2	+	5	928	c.414G>A	c.(412-414)tcG>tcA	p.S138S	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Silent_p.S138S|PLCXD1_ENST00000399012.1_Silent_p.S138S	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	138	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		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)				CGGAAATCTCGGAGTGGCTGG	0.647000													4	30					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21463349	21463349	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr14:21463349C>G	ENST00000339374.6	+	10	1135	c.902C>G	c.(901-903)gCt>gGt	p.A301G	METTL17_ENST00000556670.2_Missense_Mutation_p.A301G|METTL17_ENST00000382985.4_Missense_Mutation_p.A301G	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	301					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGAACAAAAGCTGGGCACAGC	0.458000													32	59					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													37	151					0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133583443	133583443	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:133583443G>A	ENST00000285208.4	-	2	463	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RAB6B_ENST00000486858.1_Silent_p.F25F|RAB6B_ENST00000543906.1_Silent_p.F38F|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	38					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	p.F38F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						ATGTGTTGTCGAAGCTGTCGT	0.517000													32	64					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138715101	138715101	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:138715101G>A	ENST00000389532.4	-	11	1470	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A191V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A480V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	469						cytoplasm|microtubule		p.A469V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGCTGGGACGCAGGCCTGAA	0.587000													14	20					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562419	125562419	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr9:125562419G>A	ENST00000277309.2	+	1	50	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CTGCCAATGAGTCTTCAGAGG	0.522000													4	6					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111553	75111553	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:75111553C>T	ENST00000309664.5	+	6	797	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P220S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	220	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATGTGGGGCCCCTGCTTTT	0.602000													35	91					0	0	1	0	0
MXRA7	439921	broad.mit.edu	37	17	74673702	74673702	+	Missense_Mutation	SNP	C	C	T	rs143033560	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:74673702C>T	ENST00000355797.3	-	4	591	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	195						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGCTCCTGCACGTCGCCGTCG	0.582000													5	50					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141382773	141382773	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:141382773C>T	ENST00000508177.1	-	5	1407	c.649G>A	c.(649-651)Gag>Aag	p.E217K	GNPDA1_ENST00000513454.1_Missense_Mutation_p.E217K|GNPDA1_ENST00000542860.1_Missense_Mutation_p.E140K|GNPDA1_ENST00000500692.2_Missense_Mutation_p.E217K|GNPDA1_ENST00000503794.1_Missense_Mutation_p.E217K|GNPDA1_ENST00000311337.6_Missense_Mutation_p.E217K|GNPDA1_ENST00000458112.2_Missense_Mutation_p.E183K			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	217					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTCCTCGATGGCCTTG	0.537000													11	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474260	179474260	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:179474260C>T	ENST00000589042.1	-	273	52001	c.51777G>A	c.(51775-51777)gtG>gtA	p.V17259V	TTN_ENST00000591111.1_Silent_p.V15618V|TTN_ENST00000342175.6_Silent_p.V8386V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.V8319V|TTN_ENST00000460472.2_Silent_p.V8194V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.V14691V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15618	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTCGTTTCACTTCTAGGC	0.343000													26	68					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027542	9027542	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:9027542C>T	ENST00000383836.3	-	22	3388	c.2961G>A	c.(2959-2961)gcG>gcA	p.A987A	SRGAP3_ENST00000360413.3_Silent_p.A963A	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	987					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACATCTGGCGCCTGCTTGA	0.652000			T	RAF1	pilocytic astrocytoma								22	51					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402621	89402621	+	RNA	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:89402621C>T	ENST00000532352.1	+	0	858							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAGGAAGTCTCAAAGTGTCCT	0.388000													14	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990760	140990760	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:140990760C>T	ENST00000389484.3	-	91	14766	c.13795G>A	c.(13795-13797)Gca>Aca	p.A4599T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4599					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGATTATGCCACTGTCTCT	0.318000										TSP Lung(27;0.18)			10	6					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549409	187549409	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr4:187549409C>A	ENST00000441802.2	-	9	4918	c.4709G>T	c.(4708-4710)cGg>cTg	p.R1570L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1570	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATAAACCCGCCCTTTGTA	0.522000										HNSCC(5;0.00058)			5	10					1	1	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			262	47					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615733	140615733	+	RNA	SNP	A	A	G	rs2907306	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:140615733A>G	ENST00000526308.1	+	0	1796					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCGCAGACCACGGCTCCCCG	0.667000													9	72					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3014582	3014582	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:3014582G>A	ENST00000262953.6	-	10	971	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	TLE2_ENST00000455444.2_Silent_p.L115L|TLE2_ENST00000591529.1_Silent_p.L251L|TLE2_ENST00000426948.2_Silent_p.L251L|TLE2_ENST00000443826.3_Silent_p.L115L|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000590536.1_Silent_p.L238L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	237	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACCACCAGATTGTAATCA	0.597000													7	9					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50007937	50007937	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr20:50007937G>A	ENST00000396009.3	-	10	2993	c.2774C>T	c.(2773-2775)aCg>aTg	p.T925M	NFATC2_ENST00000609507.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000609943.1_Missense_Mutation_p.T905M|NFATC2_ENST00000414705.1_3'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	925					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTTCTTTTACGTCTGATTTCT	0.493000													18	36					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113308061	113308061	+	Splice_Site	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:113308061C>T	ENST00000297405.5	-	54	8859		c.e54+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				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						TGCTTACTTACGCACACAGGA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	17					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36365080	36365080	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:36365080C>G	ENST00000312412.4	-	4	514	c.515G>C	c.(514-516)cGc>cCc	p.R172P	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P																kidney(1)|lung(3)	4						AGCAGCATAGCGCACCTCTCC	0.368000													43	127					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177176	67177176	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:67177176C>T	ENST00000312390.5	+	10	1321	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.P431L|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	431	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ATCGAGGGGCCCCCCAGGCCC	0.682000													12	11					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571918	166571918	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:166571918G>A	ENST00000296946.2	-	9	1661	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	T_ENST00000366871.3_Missense_Mutation_p.S340F	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	398					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTACAGTGGGGATCCCGAGGA	0.692000									Chordoma, Familial Clustering of				26	31					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49270371	49270371	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:49270371G>A	ENST00000586178.1	-	15	1805	c.1462C>T	c.(1462-1464)Cca>Tca	p.P488S	MBTD1_ENST00000415868.1_Missense_Mutation_p.P488S|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCGTGATTTGGAACATCCTGA	0.378000													20	129					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77325843	77325843	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:77325843C>T	ENST00000334955.8	+	1	84	c.57C>T	c.(55-57)acC>acT	p.T19T		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCGCCACCGTCTCGGAGA	0.647000													15	131					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490518	25490518	+	RNA	SNP	T	T	C	rs1969608	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:25490518T>C	ENST00000453082.2	+	0	2669					NR_003343.1																						ACCCCCAGTGTGCTGAAGCTC	0.622000													4	37					0	0	1	0	0
HOXB6	3216	broad.mit.edu	37	17	46675476	46675476	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:46675476T>G	ENST00000484302.2	-	2	659	c.37A>C	c.(37-39)Act>Cct	p.T13P	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.T13P|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA			P17509	HXB6_HUMAN	homeobox B6	13					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTGGCCAGAGTGACGGGGAAG	0.622000													10	121					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119691789	119691789	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:119691789T>A	ENST00000371322.5	-	2	723	c.662A>T	c.(661-663)gAa>gTa	p.E221V	CUL4B_ENST00000336592.6_Missense_Mutation_p.E226V|CUL4B_ENST00000404115.3_Missense_Mutation_p.E239V	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	239					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGGTAGAGTTCTTCTAAATT	0.323000													4	1					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			25	7					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478243	42478243	+	Missense_Mutation	SNP	T	T	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:42478243T>G	ENST00000434000.1	-	9	1250	c.968A>C	c.(967-969)cAc>cCc	p.H323P	GPATCH8_ENST00000591680.1_Missense_Mutation_p.H401P			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	401						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TACTTTGCAGTGTGCTGGGGG	0.438000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	88					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214396	140214396	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:140214396C>T	ENST00000525929.1	+	1	428	c.428C>T	c.(427-429)gCg>gTg	p.A143V	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A143V|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1												p.A143V(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCATCGCGGAATCCAGG	0.567000													10	26					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257088	63257088	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:63257088G>A	ENST00000323865.3	-	1	692	c.459C>T	c.(457-459)gcC>gcT	p.A153A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	153				RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGAGCGCAGCGGCGCGCCGGG	0.647000													41	5					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55518029	55518029	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:55518029G>A	ENST00000219070.4	+	3	991	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	MMP2_ENST00000570308.1_Missense_Mutation_p.R85Q|MMP2_ENST00000437642.2_Missense_Mutation_p.R111Q|MMP2_ENST00000543485.1_Missense_Mutation_p.R85Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	161	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.R161Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CGGTTTTCTCGAATCCATGAT	0.547000													13	45					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	20					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45901604	45901604	+	Silent	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:45901604C>T	ENST00000290208.7	-	5	1235	c.783G>A	c.(781-783)ggG>ggA	p.G261G	MRPL10_ENST00000351111.2_Silent_p.G251G|MRPL10_ENST00000414011.1_Silent_p.G261G			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	251					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GATCTGGCTTCCCATTGGCCG	0.572000													21	225					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802136	11802136	+	Silent	SNP	G	G	A	rs148062399	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:11802136G>A	ENST00000306928.5	-	2	889	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	285					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCCGGCGCACGTCTTTATGTC	0.582000													52	69					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739454	55739454	+	Silent	SNP	A	A	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:55739454A>T	ENST00000370830.3	-	1	908	c.210T>A	c.(208-210)ccT>ccA	p.P70P	BMP5_ENST00000446683.2_Silent_p.P70P	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	70					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTTTTCCAGGTGAAAATG	0.438000													32	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590531	179590531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:179590531C>A	ENST00000589042.1	-	70	20742	c.20518G>T	c.(20518-20520)Gga>Tga	p.G6840*	TTN_ENST00000591111.1_Nonsense_Mutation_p.G6523*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G5596*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6523	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATCACTTCCCACTTCATTC	0.363000													14	48					3.27435e-08	3.46584e-08	1	1	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:142143691G>A	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													32	80					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537000													22	40					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207966893	207966893	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:207966893C>T	ENST00000322875.4	+	13	1313	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	CD46_ENST00000441839.2_Missense_Mutation_p.L350F|CD46_ENST00000361067.1_Missense_Mutation_p.T372I|CD46_ENST00000367047.1_Missense_Mutation_p.T323I|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Missense_Mutation_p.T342I|CD46_ENST00000322918.5_Missense_Mutation_p.L335F|CD46_ENST00000354848.1_Missense_Mutation_p.T371I|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000357714.1_Missense_Mutation_p.T356I|CD46_ENST00000480003.1_Missense_Mutation_p.T357I|CD46_ENST00000367042.1_3'UTR	NM_172359.2	NP_758869.1	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	0					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GAATATGCCACTTACCAGACT	0.378000													6	36					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999971	144999971	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:144999971C>A	ENST00000322810.4	-	31	4706	c.4537G>T	c.(4537-4539)Gcc>Tcc	p.A1513S	PLEC_ENST00000354958.2_Missense_Mutation_p.A1354S|PLEC_ENST00000398774.2_Missense_Mutation_p.A1344S|PLEC_ENST00000357649.2_Missense_Mutation_p.A1380S|PLEC_ENST00000354589.3_Missense_Mutation_p.A1376S|PLEC_ENST00000345136.3_Missense_Mutation_p.A1376S|PLEC_ENST00000527096.1_Missense_Mutation_p.A1399S|PLEC_ENST00000356346.3_Missense_Mutation_p.A1362S|PLEC_ENST00000436759.2_Missense_Mutation_p.A1403S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1513	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGCCTCGGCCAGCTGCCGC	0.731000													3	17					0.004672	0.00477758	1	1	0
TANK	10010	broad.mit.edu	37	2	162092023	162092023	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:162092023G>A	ENST00000392749.2	+	8	1511	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Silent_p.E424E|TANK_ENST00000405852.1_3'UTR	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	424						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCAATGGAGAGACTTAAGACA	0.343000													15	41					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26793076	26793076	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:26793076C>T	ENST00000541819.2	-	10	1556	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	GABRB3_ENST00000311550.5_Missense_Mutation_p.R429Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R344Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R429Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.R358Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	429					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R429Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACCTCCTCCGTAGATGGGT	0.488000													20	8					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64975088	64975088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr10:64975088G>C	ENST00000399262.2	-	7	1168	c.950C>G	c.(949-951)tCa>tGa	p.S317*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.S135*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.S98*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.S98*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	317					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGCTATCTGAGCCCTTCCT	0.413000													19	24					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899136	205899136	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:205899136C>T	ENST00000367135.3	-	6	714	c.601G>A	c.(601-603)Gag>Aag	p.E201K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.E201K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.E201K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	201						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATGAAGGACTCGGAGAGGTAG	0.577000													25	16					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7412464	7412464	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:7412464G>A	ENST00000322644.6	+	21	4066	c.3667G>A	c.(3667-3669)Gac>Aac	p.D1223N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1223					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCACATGACTGACCGGAAGCT	0.562000													8	4					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848390	48848390	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:48848390C>A	ENST00000314191.2	-	13	1405	c.1349G>T	c.(1348-1350)aGt>aTt	p.S450I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S450I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	450					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATTTTTGGACTGTACTGTGG	0.483000								Non-homologous end-joining					8	79					4.68919e-08	4.93455e-08	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97862272	97862272	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:97862272G>A	ENST00000447648.2	-	12	1984	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	TECPR1_ENST00000379795.3_Missense_Mutation_p.S563L|TECPR1_ENST00000542604.1_Missense_Mutation_p.S492L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	562						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATGTGTACCGAGGAGGACAG	0.667000													25	24					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234356	15234356	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:15234356G>A	ENST00000395930.1	-	3	733	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	TEKT3_ENST00000338696.2_Missense_Mutation_p.R183W	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	183					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ATCAAAGCCCGCTCCAGTCTT	0.393000													3	5					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236148686	236148686	+	Silent	SNP	A	A	G			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:236148686A>G	ENST00000264187.6	-	15	3130	c.3048T>C	c.(3046-3048)atT>atC	p.I1016I	NID1_ENST00000366595.3_Silent_p.I883I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1016					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACCTTGTCTAATGATGGTGG	0.453000													13	32					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709941	31709941	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr21:31709941G>A	ENST00000382835.2	-	1	71	c.46C>T	c.(46-48)Cca>Tca	p.P16S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	16						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GAGAGTGGTGGGGCATTGTGG	0.448000													18	33					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181318	18181318	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:18181318C>T	ENST00000321105.5	-	18	2712	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	TOP3A_ENST00000540524.1_Missense_Mutation_p.R363Q|TOP3A_ENST00000542570.1_Missense_Mutation_p.R738Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	833	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.R833Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AAAGAACTGCCGGCCCCGGTT	0.612000													10	19					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52156598	52156598	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr14:52156598G>A	ENST00000395718.2	+	2	329	c.44G>A	c.(43-45)cGc>cAc	p.R15H	FRMD6_ENST00000356218.4_Missense_Mutation_p.R15H|FRMD6_ENST00000344768.5_Missense_Mutation_p.R15H	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	15						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGCAAGACCGCCGCAGTGTG	0.423000													10	22					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	C	T	rs141591921		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:58579130C>T	ENST00000506786.1	+	5	1706	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	ZNF135_ENST00000401053.4_Silent_p.T450T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.T426T|ZNF135_ENST00000511556.1_Silent_p.T438T|ZNF135_ENST00000439855.2_Silent_p.T426T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547000													13	22					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416347	56416347	+	Missense_Mutation	SNP	G	G	A	rs150517829	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:56416347G>A	ENST00000588751.1	-	8	2603	c.2579C>T	c.(2578-2580)gCg>gTg	p.A860V	NLRP13_ENST00000342929.3_Missense_Mutation_p.A860V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTCAGGGCCGCACACAATAG	0.463000													8	30					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435266	7435266	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr4:7435266G>A	ENST00000319098.4	-	1	1434	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	447	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CAATGAGCACGGGCTCGTACT	0.627000													6	5					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154794588	154794588	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:154794588C>T	ENST00000271915.4	-	2	1321	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	KCNN3_ENST00000358505.2_Missense_Mutation_p.A23T|KCNN3_ENST00000361147.4_Missense_Mutation_p.A31T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGTGGTAGGCGATGATCAAG	0.552000													7	38					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139796750	139796750	+	Missense_Mutation	SNP	T	T	C	rs78791610	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:139796750T>C	ENST00000397560.2	-	16	2211	c.2114A>G	c.(2113-2115)aAc>aGc	p.N705S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.N705S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		705					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGAAGGAAGTTCCTCATCAC	0.343000													3	17					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82849269	82849269	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:82849269G>A	ENST00000265077.3	+	11	10145	c.9580G>A	c.(9580-9582)Gaa>Aaa	p.E3194K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.E1440K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1392K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2207K|VCAN_ENST00000502527.2_Missense_Mutation_p.E453K|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3194	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGATGCAGCTGAACGGGAATG	0.473000													19	27					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869091	174869091	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:174869091G>A	ENST00000393752.2	-	2	2004	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	338					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AATGCCTTCCGAAAATCAGCA	0.458000													23	26					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228508	140228508	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:140228508C>T	ENST00000378122.3	+	1	1152	c.428C>T	c.(427-429)gCg>gTg	p.A143V	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A143V|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCATCGCGGAATCCAGG	0.557000													5	69					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152688470	152688470	+	Missense_Mutation	SNP	G	G	C	rs147193363		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:152688470G>C	ENST00000367255.5	-	62	10456	c.9855C>G	c.(9853-9855)ttC>ttG	p.F3285L	SYNE1_ENST00000341594.5_Missense_Mutation_p.F3324L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F3292L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F3292L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F3285L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3285					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCAAGAGAGAACTGATTGT	0.458000										HNSCC(10;0.0054)			18	28					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255995	137255995	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:137255995C>A	ENST00000453654.2	-	19	1512	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	DGKI_ENST00000446122.1_Missense_Mutation_p.D625Y|DGKI_ENST00000424189.2_Missense_Mutation_p.D625Y|DGKI_ENST00000288490.5_Missense_Mutation_p.D625Y			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCATGGTGATCACCTGGGTTT	0.403000													9	13					6.40141e-05	6.58327e-05	1	1	0
TMC5	79838	broad.mit.edu	37	16	19483526	19483526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:19483526C>A	ENST00000396229.2	+	11	2648	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	TMC5_ENST00000561503.1_Nonsense_Mutation_p.C274*|TMC5_ENST00000564959.1_Nonsense_Mutation_p.C316*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.C633*|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Nonsense_Mutation_p.C633*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.C387*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	633						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATAGCCTGCTGTGCAGCCG	0.542000													27	103					1.17739e-12	1.2685e-12	1	1	0
GREB1	9687	broad.mit.edu	37	2	11750834	11750834	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr2:11750834C>T	ENST00000381486.2	+	18	2987	c.2687C>T	c.(2686-2688)gCg>gTg	p.A896V	GREB1_ENST00000234142.5_Missense_Mutation_p.A896V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	896						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCACAGCGCGGTGATCAGG	0.637000													13	56					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532000													41	104					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74419065	74419065	+	Missense_Mutation	SNP	T	T	C	rs62620465	byFrequency	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:74419065T>C	ENST00000263665.6	-	6	763	c.736A>G	c.(736-738)Aaa>Gaa	p.K246E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	246	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.K246E(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)		CATTCCAATTTCACAGTCGAA	0.343000													4	31					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65387122	65387122	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:65387122C>T	ENST00000355703.3	+	7	2359	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	607						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTCATGGGCTCGCCGCCCAGG	0.711000													3	11					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724643	138724643	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:138724643G>A	ENST00000383163.2	-	1	467	c.468C>T	c.(466-468)taC>taT	p.Y156Y		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	156								p.Y156Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CGTCCTCCTCGTAGGCCTCTT	0.632000													12	14					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617147	64617147	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr3:64617147G>A	ENST00000498707.1	-	16	2715	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	ADAMTS9_ENST00000295903.4_Silent_p.D763D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	791	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGTTGTCATCGTCTGTTTCCC	0.473000													14	46					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345829	57345829	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:57345829G>C	ENST00000398138.3	-	4	1794	c.938C>G	c.(937-939)cCg>cGg	p.P313R	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	313					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGCCTTGGCCGGGCTTGGAGA	0.542000													30	15					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43590545	43590545	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:43590545G>A	ENST00000338702.3	+	7	826	c.703G>A	c.(703-705)Gga>Aga	p.G235R	MAOA_ENST00000542639.1_Missense_Mutation_p.G102R|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	235					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGACCTCCTCGGAGACCAAGT	0.468000													15	4					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045302	142045302	+	RNA	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr7:142045302G>C	ENST00000390392.3	+	0	51																											AAGGAGACCAGAGCCCAGCAC	0.587000													11	56					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528598	65528598	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:65528598G>T	ENST00000310193.3	-	3	673	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	167					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TAACAGCTGGGGTTCAAAAAC	0.368000													6	45					2.0095e-06	2.07839e-06	1	1	0
PIPSL	266971	broad.mit.edu	37	10	95718949	95718949	+	RNA	SNP	C	C	T	rs11813252	by1000genomes	TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr10:95718949C>T	ENST00000480546.1	-	0	2348					NR_002319.2																						CAGTCCCAGTCGTAGCAATCC	0.587000													4	25					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92690231	92690231	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr15:92690231G>A	ENST00000318445.6	+	8	1744	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.A510A	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	510	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGGGCTGTGCGTGCCTCACCA	0.552000													12	29					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576467	158576467	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr1:158576467G>T	ENST00000361284.1	+	1	239	c.239G>T	c.(238-240)aGa>aTa	p.R80I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATCATCCCTAGAATGCTCTCT	0.542000													136	74					3.8661e-36	4.26686e-36	1	1	0
TH	7054	broad.mit.edu	37	11	2189113	2189113	+	Silent	SNP	G	G	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:2189113G>A	ENST00000381178.1	-	6	738	c.720C>T	c.(718-720)atC>atT	p.I240I	TH_ENST00000333684.5_Silent_p.I213I|TH_ENST00000352909.3_Silent_p.I209I|TH_ENST00000381175.1_Silent_p.I236I	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	240					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACTGGAAGGCGATCTCAGCAA	0.677000													3	8					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592500	170592500	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:170592500C>T	ENST00000366756.3	-	9	2200	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	623					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGTGGTCCCCGTGGAAGTCC	0.592000													28	54					0	0	1	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775340	27775340	+	Silent	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr6:27775340G>C	ENST00000377401.2	-	1	369	c.345C>G	c.(343-345)ggC>ggG	p.G115G		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	115					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGGCCTTGGTGCCCTCCGACA	0.567000													22	32					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129630088	129630088	+	RNA	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chrX:129630088C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TCAGAAGTTTCGGCTGATGGA	0.418000													13	24					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49270326	49270326	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:49270326G>C	ENST00000586178.1	-	15	1850	c.1507C>G	c.(1507-1509)Ctc>Gtc	p.L503V	MBTD1_ENST00000415868.1_Missense_Mutation_p.L503V|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	503					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGCTCCATGAGATCTACTGCT	0.378000													32	160					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17443990	17443990	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr19:17443990C>T	ENST00000159087.4	-	4	567	c.409G>A	c.(409-411)Ggg>Agg	p.G137R		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	137						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGGGTGCCCCCGCCAAACTCG	0.652000													6	11					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45901597	45901597	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:45901597C>A	ENST00000290208.7	-	5	1242	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	MRPL10_ENST00000351111.2_Missense_Mutation_p.D254Y|MRPL10_ENST00000414011.1_Missense_Mutation_p.D264Y			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	254					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GTGTCAGGATCTGGCTTCCCA	0.562000													24	230					7.07758e-08	7.40487e-08	1	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42862456	42862456	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:42862456A>T	ENST00000455697.1	-	5	845	c.560T>A	c.(559-561)cTc>cAc	p.L187H	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L187H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L187H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L187H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L187H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	187	LIM zinc-binding 1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CCGTGGTTTGAGCAGTTCTGC	0.418000													8	45					0	0	1	0	0
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													5	9	---	---	---	---					
MMP16	4325	broad.mit.edu	37	8	89086906	89086906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:89086906delG	ENST00000286614.6	-	7	1430	c.1149delC	c.(1147-1149)tacfs	p.Y383fs	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	383	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCCGCCAGAAGTAAGTAATTT	0.438													81	67	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	119122616	119122644	+	Frame_Shift_Del	DEL	CAGTACTGATGCTGGCTTTGGCCAGCATC	CAGTACTGATGCTGGCTTTGGCCAGCATC	-	rs149242997		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr8:119122616_119122644delCAGTACTGATGCTGGCTTTGGCCAGCATC	ENST00000378204.2	-	1	1448_1476	c.642_670delGATGCTGGCCAAAGCCAGCATCAGTACTG	c.(640-672)gcgatgctggccaaagccagcatcagtactgaafs	p.MLAKASISTE215fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	215			MLAKASIS -> I (in isolated osteochondroma; somatic mutation).|Missing (in EXT1).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGA	0.476			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				16	115	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104879686	104879687	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr11:104879686_104879687insT	ENST00000393141.2	-	2	98_99	c.67_68insA	c.(67-69)aggfs	p.R23fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.R23fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.R10fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	10					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATTCTTACGCCTTTTTTTTTTG	0.386													9	9	---	---	---	---					
PLEKHG6	55200	broad.mit.edu	37	12	6424295	6424305	+	Frame_Shift_Del	DEL	CCATCGAGAAG	CCATCGAGAAG	-	rs143574959		TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:6424295_6424305delCCATCGAGAAG	ENST00000449001.2	+	3	817_827	c.323_333delCCATCGAGAAG	c.(322-333)accatcgagaagfs	p.TIEK108fs	PLEKHG6_ENST00000011684.7_Frame_Shift_Del_p.TIEK140fs|PLEKHG6_ENST00000536531.1_Frame_Shift_Del_p.TIEK140fs|PLEKHG6_ENST00000396988.3_Frame_Shift_Del_p.TIEK140fs	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	140					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I141I(1)|p.E142K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGTGGCCTGACCATCGAGAAGTCCTGGAGGG	0.611													9	62	---	---	---	---					
LOC101927058	101927058	broad.mit.edu	37	12	43018865	43018867	+	RNA	DEL	TTC	TTC	-			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr12:43018865_43018867delTTC	ENST00000550337.1	-	0	752																											ctcttcttctttcttcttcttct	0.453													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5320213	5320214	+	RNA	INS	-	-	A			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:5320213_5320214insA	ENST00000569895.1	+	0	304																											TGAAAGGTGGCAAAAAGGGAGT	0.366													4	3	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68847275	68847277	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr16:68847275_68847277delTGA	ENST00000261769.5	+	9	1388_1390	c.1197_1199delTGA	c.(1195-1200)actgat>act	p.D400del	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	400	Cadherin 3.		Missing (in a gastric carcinoma sample; loss of heterozygosity).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T399fs*17(3)|p.Y380_K440del(2)|p.D400del(1)|p.D400Y(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAAAGTGACTGATGCTGATGCC	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				29	108	---	---	---	---					
ABCC3	8714	broad.mit.edu	37	17	48745251	48745251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HQ-A2OF-01A-11D-A26M-08	TCGA-HQ-A2OF-10B-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18987f5d-2351-4308-bad2-84e5cd0bf9e7	6f03f9f2-dd98-4dc0-882d-0c495fb45a4a	g.chr17:48745251delG	ENST00000285238.8	+	13	1743	c.1663delG	c.(1663-1665)gtgfs	p.V555fs	ABCC3_ENST00000427699.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	555	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGGGTGTACGTGTACGTGGA	0.567													15	39	---	---	---	---					
