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
MYCBP2	23077	broad.mit.edu	37	13	77765887	77765887	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr13:77765887C>T	ENST00000407578.2	-	28	4263	c.3997G>A	c.(3997-3999)Gca>Aca	p.A1333T	MYCBP2_ENST00000544440.2_Missense_Mutation_p.A1295T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CGGGCCCATGCCACATACCAC	0.428000													3	28					0	0	1	0	0
CUTA	51596	broad.mit.edu	37	6	33385083	33385083	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr6:33385083C>T	ENST00000374500.5	-	3	450	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000488034.1_Missense_Mutation_p.V88M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	88					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TTCTCCACCACGGCCCTGGAG	0.537000													22	33					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60062197	60062197	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:60062197T>C	ENST00000397786.2	-	14	2582	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	836					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGTGGTGTAGGATACATT	0.323000													7	15					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806868	143806868	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:143806868C>T	ENST00000408979.2	+	1	262	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTCACACCTGGCCATCAT	0.453000													7	194					0	0	1	0	0
PIGX	54965	broad.mit.edu	37	3	196460770	196460770	+	Silent	SNP	A	A	G	rs144273559	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:196460770A>G	ENST00000314118.4	+	6	933	c.651A>G	c.(649-651)ctA>ctG	p.L217L	PIGX_ENST00000541663.1_Silent_p.L168L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	258					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ATTTTTCCCTATAAGTTTTAT	0.333000													21	42					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	51					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21630844	21630844	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:21630844T>C	ENST00000444129.2	-	7	1228	c.760A>G	c.(760-762)Act>Gct	p.T254A	RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	254	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GCAGTTGCAGTCAGCCCAATT	0.368000								Other identified genes with known or suspected DNA repair function					33	60					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526724	234526724	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:234526724G>T	ENST00000373450.4	+	1	434	c.371G>T	c.(370-372)tGc>tTc	p.C124F		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTTCGCATTGCAGGAGTTTG	0.353000													5	146					1.024e-07	1.08308e-07	1	1	0
GPNMB	10457	broad.mit.edu	37	7	23300355	23300355	+	Silent	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:23300355A>G	ENST00000258733.4	+	6	1276	c.981A>G	c.(979-981)ccA>ccG	p.P327P	GPNMB_ENST00000539136.1_Silent_p.P228P|GPNMB_ENST00000381990.2_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	327	PKD.|Poly-Pro.				negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGCCACCGCCACCACCACCCA	0.502000													48	114					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447811	46447811	+	Silent	SNP	G	G	A	rs1052572		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr18:46447811G>A	ENST00000262158.2	-	4	1498	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000589634.1_Silent_p.G403G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	404	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGTAGCACTGGCCCCAGCCCT	0.617000													8	32					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493716	38493716	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:38493716A>C	ENST00000263409.4	-	14	2219	c.2057T>G	c.(2056-2058)aTa>aGa	p.I686R	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.I686R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	686	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACCAGATTCTATTACAGTTTC	0.398000			T	PLAG1	salivary adenoma								45	66					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880387	24880387	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:24880387G>A	ENST00000382554.3	+	5	2838	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	840					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCACCTGGCAGCTGAAGAAGA	0.592000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201047221	201047221	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:201047221G>A	ENST00000362061.3	-	11	1631	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	469					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCAGCACCCGGTTGGCAATG	0.587000													30	43					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558822	228558822	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:228558822C>A	ENST00000570156.2	+	105	23288	c.23214C>A	c.(23212-23214)caC>caA	p.H7738Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.H6781Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6781	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TAGCCCGGCACCTCTGCAGGG	0.657000													15	30					1.3612e-06	1.41257e-06	1	1	0
MAD2L1	4085	broad.mit.edu	37	4	120982029	120982029	+	Splice_Site	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:120982029A>G	ENST00000296509.5	-	4	784	c.445_splice	c.e4+1	p.C149_splice		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	149	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TAATACTTACAAGAAACTTCC	0.368000													7	10					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517939	172517939	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:172517939A>T	ENST00000540014.1	+	4	1076	c.757A>T	c.(757-759)Agc>Tgc	p.S253C	CREBRF_ENST00000296953.2_Missense_Mutation_p.S253C|CREBRF_ENST00000522692.1_Missense_Mutation_p.S253C|CREBRF_ENST00000520420.1_Missense_Mutation_p.S253C			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	253							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GCCCTTGTTGAGCCAGATTCA	0.443000													5	79					0	0	1	0	0
C20orf166-AS1	0	broad.mit.edu	37	20	61143780	61143780	+	RNA	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:61143780C>T	ENST00000475015.1	-	0	558				C20orf166-AS1_ENST00000412495.1_RNA																							CTCCTGCGTCCGCCCTCCGCT	0.667000													14	156					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886040	88886040	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:88886040T>C	ENST00000319675.3	-	1	256	c.160A>G	c.(160-162)Atg>Gtg	p.M54V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	54										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCTCTGCATGCAGCTTACA	0.507000													32	59					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39912083	39912083	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:39912083G>A	ENST00000393931.3	-	14	2269	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	717					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATGTCCATGTGCATCTCCA	0.637000													17	21					0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339091	11339091	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:11339091A>T	ENST00000334266.1	-	1	452	c.453T>A	c.(451-453)ttT>ttA	p.F151L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGATATCAATAAATATTTCTA	0.289000													4	40					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029672	76029672	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:76029672C>T	ENST00000275560.3	-	4	753	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	136	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGCCGCACTCGCTCAGCGCA	0.672000													7	75					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763443	13763443	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:13763443T>C	ENST00000202816.1	-	2	451	c.344A>G	c.(343-345)aAa>aGa	p.K115R		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	115	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTGGTTTCTTTCTTTTTCTC	0.274000													14	19					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735165	52735165	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:52735165C>T	ENST00000306051.2	+	1	735	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTGDR_ENST00000553372.1_Silent_p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	211						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCTGCTGGTCCTCGCCACCG	0.677000													37	56					0	0	1	0	0
PCDHB16	0	broad.mit.edu	37	5	140563061	140563061	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:140563061C>T	ENST00000361016.2	+	1	2082	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAGATTTCGAAATGGTTA	0.443000													20	73					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241669308	241669308	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:241669308A>T	ENST00000366560.3	-	6	937	c.899T>A	c.(898-900)cTt>cAt	p.L300H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	300					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTAACCTGTAAGTGCAGCCAC	0.398000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				35	47					0	0	1	0	0
MYL6B	140465	broad.mit.edu	37	12	56548975	56548975	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:56548975G>C	ENST00000553066.1	+	4	761	c.339G>C	c.(337-339)aaG>aaC	p.K113N	MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522000													5	109					0	0	1	0	0
KIAA1967	0	broad.mit.edu	37	8	22464425	22464425	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:22464425T>C	ENST00000308511.4	+	5	494	c.245T>C	c.(244-246)gTg>gCg	p.V82A	KIAA1967_ENST00000389279.3_Missense_Mutation_p.V82A|KIAA1967_ENST00000520861.1_5'UTR			Q8N163	K1967_HUMAN		82					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCTGACAGTGTGGTGAAGGGC	0.602000													30	34					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26110004	26110004	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:26110004C>T	ENST00000313735.6	-	6	829	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	199					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCAATGCAGCGTGGGGCATT	0.577000													5	71					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	33					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959037	78959037	+	Silent	SNP	A	A	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:78959037A>C	ENST00000370756.3	+	2	846	c.609A>C	c.(607-609)ctA>ctC	p.L203L	PTGFR_ENST00000370757.3_Silent_p.L203L|PTGFR_ENST00000370758.1_Silent_p.L203L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	203					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTATCTTCTACTTTTTTCTT	0.393000													26	45					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591965	37591965	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:37591965C>T	ENST00000284437.6	+	3	466	c.288C>T	c.(286-288)tgC>tgT	p.C96C	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.C96C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	96										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						ACCATGCCTGCGGTGTCAACG	0.647000													34	46					0	0	1	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066083	153066083	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:153066083G>T	ENST00000368751.1	-	2	219	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K			P22531	SPR2E_HUMAN	small proline-rich protein 2E	49					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGCACTGCTGAGGTGGG	0.592000													74	239					1.2582e-26	1.35688e-26	1	1	0
WSB2	55884	broad.mit.edu	37	12	118474220	118474220	+	Silent	SNP	G	G	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:118474220G>C	ENST00000315436.3	-	6	897	c.756C>G	c.(754-756)gcC>gcG	p.A252A	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000542304.1_Silent_p.A27A|WSB2_ENST00000441406.2_Silent_p.A269A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	252					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGACAAGCAGGGCAGAGTCGG	0.517000													28	123					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11402103	11402103	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:11402103C>G	ENST00000354449.3	+	14	1553	c.1528C>G	c.(1528-1530)Cat>Gat	p.H510D	ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	510					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTCATGAGACATGGTCTGAA	0.458000													87	99					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:113539707G>A	ENST00000546530.1	-	20	2500	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627000													8	69					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12783981	12783981	+	Silent	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:12783981A>G	ENST00000314124.7	-	5	683	c.327T>C	c.(325-327)gtT>gtC	p.V109V	TMEM40_ENST00000435575.1_Silent_p.V33V|TMEM40_ENST00000435218.2_Silent_p.V79V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000431022.2_Silent_p.V125V	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CATCCTTCAAAACGTCAGGCT	0.512000													53	80					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283375	63283375	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:63283375C>G	ENST00000366671.3	+	5	1265	c.989C>G	c.(988-990)gCc>gGc	p.A330G	OTX1_ENST00000282549.2_Missense_Mutation_p.A330G	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	330						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTTCCTCCGCCTGGAAACTC	0.577000													27	55					0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667000													43	67					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													7	317					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597000													7	25					0	0	1	0	0
P2RY6	0	broad.mit.edu	37	11	73007592	73007592	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:73007592C>G	ENST00000393590.2	+	2	328	c.29C>G	c.(28-30)gCt>gGt	p.A10G	P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAGGCCAGGCTCTGGGCTTG	0.602000													5	207					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066160	87066160	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr15:87066160G>A	ENST00000441037.2	+	18	2632	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCATTGGCCGAAGTCCCGTG	0.522000													4	195					0	0	1	0	0
TSEN54	283989	broad.mit.edu	37	17	73518111	73518111	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:73518111G>T	ENST00000333213.6	+	8	985	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTGCGCGCCCCAGCCCC	0.652000													4	6					0.00024832	0.00024832	1	1	0
POU3F1	5453	broad.mit.edu	37	1	38512169	38512171	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:38512169_38512171delCGC	ENST00000373012.2	-	1	279_281	c.245_247delGCG	c.(244-249)gat>g	p.GD82del		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	82	Gly-rich.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGCCCAATCGCCGCCGCCGCC	0.773													2	4	---	---	---	---					
ZBTB41	360023	broad.mit.edu	37	1	197128614	197128637	+	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TATTTGCAGGTTGAGGAGTAAGAG	-	rs35114924		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENST00000367405.4	-	10	2650_2673	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	c.(2581-2607)ata>a	p.TLTPQPANI861del	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGTTGAGGAGTAAGAGTATATTTTTC	0.420													19	187	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	4	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132425287	132425291	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:132425287_132425291delTCCTT	ENST00000304858.2	+	11	1567_1571	c.1278_1282delTCCTT	c.(1276-1284)gctcfs	p.APF426fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	426					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCATGCTGCTCCTTTCTCTAAAGT	0.385													12	34	---	---	---	---