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
HMCN1	83872	broad.mit.edu	37	1	186056762	186056762	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:186056762C>T	ENST00000271588.4	+	60	9577	c.9348C>T	c.(9346-9348)caC>caT	p.H3116H	HMCN1_ENST00000367492.2_Silent_p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3116	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGCTACACATTAAGAAAG	0.438000													50	46					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4559437	4559437	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:4559437G>A	ENST00000570646.1	+	5	1326	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	241					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGACCAGGCCGGCTCCACACT	0.478000													15	233					0	0	1	0	0
LSMD1	84316	broad.mit.edu	37	17	7760438	7760438	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:7760438G>A	ENST00000333775.5	-	1	734	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C|LSMD1_ENST00000335155.5_Missense_Mutation_p.R54C|LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	54						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATGCGAATGCGCATAGTCTTG	0.632000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	204					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250622	86250622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:86250622C>T	ENST00000523953.1	-	4	1140	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I			P00915	CAH1_HUMAN	carbonic anhydrase I	32					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TTAATATCAACAGGGGACTGG	0.423000													10	394					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21364040	21364040	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr18:21364040C>T	ENST00000313654.9	+	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	508	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCCACGGACGGTGCCTGTG	0.532000													22	182					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20073664	20073664	+	Missense_Mutation	SNP	G	G	A	rs146596460		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:20073664G>A	ENST00000294543.6	-	8	846	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M|TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	202						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCGATCACCGTTCCGCCTCC	0.547000													229	317					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137468	40137468	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137468G>A	ENST00000278198.2	-	2	2338	c.375C>T	c.(373-375)aaC>aaT	p.N125N	LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	125					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTGAGGTTCGCCAGAC	0.438000													9	43					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637064	129637064	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:129637064A>G	ENST00000421865.2	+	26	3942	c.3893A>G	c.(3892-3894)cAa>cGa	p.Q1298R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1298	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGATTGGCCAATTGACAAGG	0.398000													44	65					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151208547	151208547	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:151208547C>G	ENST00000274576.4	-	8	1286	c.994G>C	c.(994-996)Gtt>Ctt	p.V332L	GLRA1_ENST00000455880.2_Missense_Mutation_p.V332L|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512000													52	84					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90482961	90482961	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:90482961G>C	ENST00000340281.4	+	8	1155	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF326_ENST00000370447.2_Missense_Mutation_p.E249Q|ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TTCACATCAGGAAACATTAGA	0.294000													11	15					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44942769	44942769	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:44942769A>T	ENST00000377967.4	+	23	3390	c.3349A>T	c.(3349-3351)Aat>Tat	p.N1117Y	KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1117	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGCAGGAAATCTTCTAAG	0.413000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	3					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753458	104753458	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:104753458C>T	ENST00000334877.4	+	26	5663	c.5129C>T	c.(5128-5130)tCg>tTg	p.S1710L	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1752L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1752L					lysine (K)-specific methyltransferase 2E																		CTTTTTCCTTCGAGTGCTCAT	0.552000													4	162					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097045	44097045	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:44097045G>A	ENST00000422989.1	-	3	1160	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	IRGQ_ENST00000602269.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.G48G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	335							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGGATCCTCGCCCTCGCCGT	0.617000													12	153					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647434	20647434	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:20647434C>T	ENST00000272233.4	+	1	600	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	70					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGACCGCCTGCGGCCGCTCTC	0.647000													7	80					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046973	71046973	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:71046973C>T	ENST00000272367.2	-	2	188	c.112G>A	c.(112-114)Gtt>Att	p.V38I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	38					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAGCCTGAACGAGCCTCGGT	0.552000													18	29					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507505	17507505	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:17507505G>A	ENST00000229922.2	+	5	938	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	136					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.V136I(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTTCGGCCGTCAGCGAAAG	0.483000													4	58					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805661	222805661	+	Silent	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:222805661G>C	ENST00000344922.5	+	5	3349	c.3324G>C	c.(3322-3324)ctG>ctC	p.L1108L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1108					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAGACCTGGACCCAGGTA	0.458000													8	75					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137425	40137425	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137425G>A	ENST00000278198.2	-	2	2381	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCCATTCGGGATGGTAGTA	0.428000													12	39					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526259	109526259	+	Missense_Mutation	SNP	G	G	A	rs140769082		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr12:109526259G>A	ENST00000429722.2	-	4	901	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S|ALKBH2_ENST00000440112.2_Silent_p.P113P	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	180	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGGCTCCCAGGGGCCAGTTCT	0.537000								Direct reversal of damage					44	70					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170679	58170679	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:58170679G>T	ENST00000309403.2	-	1	203	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGCAAAAGTCCACTAGAG	0.413000													44	74					4.01765e-15	4.53846e-15	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	48036204	48036204	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:48036204C>T	ENST00000543600.1	-	1	176	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PTCHD4_ENST00000339488.4_Missense_Mutation_p.R63H			Q6ZW05	CF138_HUMAN	patched domain containing 4	63						integral to membrane	hedgehog receptor activity										GGGCTGGAAGCGGTTGAGCGC	0.667000													16	27					0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2769012	2769012	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:2769012G>A	ENST00000221566.2	-	2	216	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	19					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		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)		CCGTGCCGGAGCTGGTCATGC	0.637000													42	56					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356219	121356219	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:121356219T>A	ENST00000339397.4	+	6	861	c.789T>A	c.(787-789)gaT>gaA	p.D263E		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATTTTGATGATAGCACAGAAG	0.408000													42	74					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467116	58467116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:58467116G>A	ENST00000357552.3	-	24	2518	c.2293C>T	c.(2293-2295)Caa>Taa	p.Q765*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	765					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATGACTTTGCACATTTTTG	0.338000													17	21					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110396299	110396299	+	Splice_Site	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:110396299G>A	ENST00000378402.5	+	5	522	c.417_splice	c.e5-1	p.A140_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	140					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTTTACAGGCAAAAAGTTT	0.289000										HNSCC(38;0.096)			4	171					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149922490	149922490	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:149922490A>G	ENST00000261797.6	+	10	2429	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	643	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAGGAGATCCAGTTTTT	0.577000													5	239					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784549	143784549	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:143784549C>T	ENST00000519387.1	+	3	640	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.S86S|LY6K_ENST00000522591.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	0	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483000													4	121					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	44					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42693430	42693430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:42693430G>A	ENST00000254250.3	-	3	547	c.317C>T	c.(316-318)cCg>cTg	p.P106L	THAP1_ENST00000345117.2_Missense_Mutation_p.R41C	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	106	Pro-rich.				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGAGGCGGTAAAGGAGG	0.413000													7	113					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217169	49217169	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:49217169G>A	ENST00000318083.6	-	8	920	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	286	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CAGAGCCgctgagcccggccc	0.672000													12	81					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522701	97522701	+	Silent	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:97522701T>A	ENST00000375315.2	+	1	636	c.636T>A	c.(634-636)gcT>gcA	p.A212A	C9orf3_ENST00000297979.5_Silent_p.A212A|C9orf3_ENST00000277198.2_Silent_p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	212					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAGCCAGGCTCCTGGCTGTG	0.502000													20	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058771	9058771	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:9058771T>C	ENST00000397910.4	-	3	28878	c.28675A>G	c.(28675-28677)Atg>Gtg	p.M9559V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9561	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACCATGTTGTCTCTT	0.493000													11	16					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35627723	35627723	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:35627723C>A	ENST00000353139.5	-	10	1519	c.1038G>T	c.(1036-1038)atG>atT	p.M346I	ACACA_ENST00000394406.2_Missense_Mutation_p.M309I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGGCCTTGATCATTACTGGAT	0.393000													4	150					1	1	1	1	0
EFCAB7	84455	broad.mit.edu	37	1	63999809	63999809	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:63999809A>T	ENST00000371088.4	+	6	972	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	242							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGAAGTTCAAAACATCTGTTT	0.363000													17	58					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43203169	43203169	+	Splice_Site	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:43203169A>G	ENST00000263245.5	-	14	1540	c.1320_splice	c.e14-1	p.Y441_splice	ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369_splice|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397_splice	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	441					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGTCTCATACTAGAGAAGA	0.512000													7	8					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062820	208062820	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:208062820G>A	ENST00000356522.4	-	5	1065	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000310833.7_Silent_p.A248A	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	248					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTTCTGTTGGCCAAGACCA	0.592000													8	8					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816735	43816735	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:43816735G>C	ENST00000377564.3	+	6	1234	c.841G>C	c.(841-843)Gac>Cac	p.D281H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	281	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CGAGCTCCTCGACACGCAGGT	0.488000													5	46					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110833688	110833688	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr13:110833688C>T	ENST00000375820.4	-	29	2265	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	715	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCCGGGCGACCTGGAGT	0.498000													18	15					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699517	17699517	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:17699517G>A	ENST00000399080.2	-	1	189	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	56										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGACAAGCGAGGCACCAGA	0.552000													8	102					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51172430	51172430	+	Silent	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:51172430C>A	ENST00000293441.1	-	22	2805	c.2787G>T	c.(2785-2787)ccG>ccT	p.P929P	SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000391814.1_Silent_p.P937P|SHANK1_ENST00000359082.3_Silent_p.P920P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGGAGGCTCCGGTGGGGACG	0.672000											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0.000157383	0.000168428	1	1	0
SNRPD2	6633	broad.mit.edu	37	19	46191769	46191769	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:46191769C>G	ENST00000342669.3	-	2	502	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	20					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TCCTCCTCCTCTCGCTTCTGC	0.502000													45	73					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675730	100675730	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:100675730C>T	ENST00000306151.4	+	3	1097	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	345	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTTGCCAC	0.488000													5	326					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472099	134472099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:134472099G>A	ENST00000319914.5	-	9	1958	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	311					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCCGTCTTGCGAAAAGCCCCC	0.562000													13	386					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660518	90660518	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:90660518C>A	ENST00000257749.4	-	7	2014	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	436						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCACAAGCGCTGGAGGAGAA	0.592000													3	41					0.115264	0.117185	1	1	0
RELL1	768211	broad.mit.edu	37	4	37640115	37640115	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr4:37640115C>A	ENST00000454158.2	-	4	485	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	133						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCCTTTAAGACATCAGCATTC	0.358000													17	30					1.56452e-12	1.7352e-12	1	1	0
PSG4	5672	broad.mit.edu	37	19	43702387	43702387	+	Silent	SNP	A	A	G	rs137963702	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:43702387A>G	ENST00000405312.3	-	3	708	c.471T>C	c.(469-471)aaT>aaC	p.N157N	PSG4_ENST00000244295.9_Silent_p.N157N|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	157	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCCTGGGATTTAAGTTGC	0.532000													4	213					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68855984	68855984	+	Missense_Mutation	SNP	C	C	G	rs121964877		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:68855984C>G	ENST00000261769.5	+	12	1983	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	598	Cadherin 5.		R -> Q (in a gastric cancer sample).		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			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)		ACCAGAACCTCGAACTATATT	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	83					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118479418	118479418	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:118479418G>T	ENST00000349139.4	+	4	455	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	136						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGGGATGTGATCAATGAAA	0.368000													21	26					2.98393e-07	3.25035e-07	1	1	0
ASNSD1	54529	broad.mit.edu	37	2	190531324	190531324	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:190531324C>G	ENST00000260952.4	+	4	879	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	156	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAGTTTCTGCCTCTCTTCAGT	0.398000													51	81					0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.306_splice	c.e2+1	p.T102_splice	DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652000													4	27					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946380	45946380	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:45946380G>A	ENST00000348697.2	+	14	1729	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000327858.6_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K			P23142	FBLN1_HUMAN	fibulin 1	528	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACATTGATGAGTGTGTGAC	0.587000													9	35					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285375	220285375	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:220285375G>T	ENST00000373960.3	+	4	980	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602000													27	38					9.04072e-19	1.04054e-18	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101347235	101347235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:101347235C>A	ENST00000344327.3	-	6	1965	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	514					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCCTGAGTCCAGATTTCTTT	0.383000													5	73					0.00116845	0.00120805	1	1	0
CACNB4	785	broad.mit.edu	37	2	152698423	152698423	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:152698423C>T	ENST00000360283.6	-	12	1454	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000534999.1_Silent_p.G398G|CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000539935.1_Silent_p.G432G|CACNB4_ENST00000201943.5_Intron			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	432					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G432G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473000													39	73					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	79					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54860001	54860001	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr15:54860001T>C	ENST00000545554.1	+	29	5962	c.5962T>C	c.(5962-5964)Tac>Cac	p.Y1988H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1988H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1988	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGTAGCAATACTTTCATGC	0.353000													5	9					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140530499	140530499	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:140530499C>T	ENST00000231136.1	+	1	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCCCCGGTCAGGGAC	0.582000													4	48					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938642	107938642	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:107938642C>G	ENST00000328300.6	+	52	5211	c.4967C>G	c.(4966-4968)gCa>gGa	p.A1656G	COL4A5_ENST00000361603.2_Missense_Mutation_p.A1650G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1650	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTGGCTGGCAACTGTAGAT	0.448000									Alport syndrome with Diffuse Leiomyomatosis				38	4					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													5	8	---	---	---	---					
GBP3	2635	broad.mit.edu	37	1	89479884	89479885	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:89479884_89479885delAA	ENST00000370481.4	-	5	726_727	c.506_507delTT	c.(505-507)tfs	p.F169fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	169						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGAAGCTCACAAAGTCAGCTGA	0.455													32	58	---	---	---	---					
RBKS	64080	broad.mit.edu	37	2	28070964	28070964	+	Splice_Site	DEL	C	C	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:28070964delC	ENST00000302188.3	-	3	975	c.222_splice	c.e3-1	p.V75_splice	RBKS_ENST00000444339.2_Splice_Site_p.V75_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	75					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCTTTGCCAACCTGTACCAAA	0.279													2	4	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)tgfs	p.L214fs	ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637													2	4	---	---	---	---					
ARHGDIA	396	broad.mit.edu	37	17	79826902	79826904	+	In_Frame_Del	DEL	CTC	CTC	-	rs150457411		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:79826902_79826904delCTC	ENST00000269321.7	-	6	598_600	c.463_465delGAG	c.(463-465)del	p.E155del	ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	155					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACTCGTACTCCTCGGCCCGG	0.650													9	49	---	---	---	---