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
KDM6A	7403	broad.mit.edu	37	X	44921967	44921967	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chrX:44921967C>A	ENST00000377967.4	+	15	1542	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K	KDM6A_ENST00000536777.1_Missense_Mutation_p.Q456K|KDM6A_ENST00000382899.4_Missense_Mutation_p.Q508K|KDM6A_ENST00000543216.1_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	501					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)|p.0(2)		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						GCTGGAAAGTCAGTTTGTCTT	0.338000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								10	2					0.00010058	0.00010272	1	1	0
CCS	9973	broad.mit.edu	37	11	66372979	66372979	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr11:66372979G>A	ENST00000533244.1	+	7	1028	c.587G>A	c.(586-588)cGc>cAc	p.R196H	CCS_ENST00000310190.4_Missense_Mutation_p.R177H	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	196	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGATTGGCCGCAGCCTGATT	0.567000													4	87					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs113070757	byFrequency	TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642000													3	33					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187498081	187498081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:187498081C>G	ENST00000261023.3	+	6	885	c.611C>G	c.(610-612)cCt>cGt	p.P204R	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.P158R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	204					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTTGGTGGTCCTGGTAGCTTT	0.323000													26	35					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30774745	30774745	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr16:30774745G>A	ENST00000324685.6	+	4	742	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	RNF40_ENST00000563683.1_Missense_Mutation_p.E103K|RNF40_ENST00000357890.5_Missense_Mutation_p.E103K|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	103					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCAGCTGGATGAAACTGTGGA	0.532000													5	132					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	38					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19358123	19358123	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:19358123A>G	ENST00000380432.2	+	23	4303	c.4270A>G	c.(4270-4272)Aca>Gca	p.T1424A	DENND4C_ENST00000434457.2_Missense_Mutation_p.T1709A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T1660A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1424						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGCATCTCAACAGTTAGTCT	0.383000													33	39					0	0	1	0	0
GNG11	2791	broad.mit.edu	37	7	93551507	93551507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr7:93551507G>T	ENST00000248564.5	+	1	497	c.58G>T	c.(58-60)Gag>Tag	p.E20*		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AATGGAAGTTGAGCAGCTTCG	0.498000													11	6					1.36491e-13	1.4559e-13	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31515169	31515169	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr5:31515169C>G	ENST00000511367.2	-	7	1460	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	DROSHA_ENST00000344624.3_Missense_Mutation_p.E406Q|DROSHA_ENST00000442743.1_Missense_Mutation_p.E369Q|DROSHA_ENST00000513349.1_Missense_Mutation_p.E369Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	406					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTAAGAAGTTCTTCTTCTTCC	0.468000													51	62					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	74					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													4	27					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10100006	10100006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr19:10100006C>T	ENST00000264828.3	-	26	2168	c.2083G>A	c.(2083-2085)Ggg>Agg	p.G695R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	695	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGAGCCCCTTTCTCTCCC	0.602000													33	44					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607845	53607845	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr12:53607845G>C	ENST00000425354.2	-	7	1298	c.811C>G	c.(811-813)Ctg>Gtg	p.L271V	RARG_ENST00000338561.5_Missense_Mutation_p.L260V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.L199V|RARG_ENST00000394426.1_Missense_Mutation_p.L271V|RARG_ENST00000543726.1_Missense_Mutation_p.L249V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	271	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAACTTACCAGGATATCTAGG	0.537000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	343					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924123	188924123	+	Silent	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr4:188924123G>A	ENST00000326866.4	+	4	570	c.162G>A	c.(160-162)gtG>gtA	p.V54V	ZFP42_ENST00000509524.1_Silent_p.V54V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	54					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATGGCTATGTGTGCTATGAGC	0.552000													27	39					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565373	18565373	+	Silent	SNP	A	A	G	rs147985634	by1000genomes	TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388000													3	51					0	0	1	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20237339	20237339	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:20237339A>C	ENST00000175091.4	-	3	776	c.269T>G	c.(268-270)aTg>aGg	p.M90R		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	90					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTATAAACATAAGAACAGA	0.313000													32	33					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				235	23					0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403888	28403888	+	Silent	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr6:28403888C>T	ENST00000289788.4	-	2	301	c.156G>A	c.(154-156)agG>agA	p.R52R	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	52	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						AGCAGAACTGCCTGAAGCGTC	0.542000													9	13					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349042	103349042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chrX:103349042G>A	ENST00000357421.4	-	2	1079	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	300					transport	integral to membrane|mitochondrial inner membrane											CTCTTTCCTGGAGTGCGACTT	0.498000													3	26					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238244973	238244973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:238244973C>T	ENST00000295550.4	-	40	9222	c.8770G>A	c.(8770-8772)Gcc>Acc	p.A2924T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A2317T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2718T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2723T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2724T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2718T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2924	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCTTTGTGGCCACAGGCTTG	0.587000													82	104					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14972	14972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chrM:14972G>A	ENST00000361789.2	+	1	226	c.226G>A	c.(226-228)Ggc>Agc	p.G76S						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						ACGTAAATTATGGCTGAATCA	0.483000													2	0					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981310	61981310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr20:61981310G>A	ENST00000370263.4	-	5	1674	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	485					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTCCGAGACCGGCACCGGACG	0.711000													4	9					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11097856	11097856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr1:11097856G>A	ENST00000400897.3	-	7	917	c.902C>T	c.(901-903)cCt>cTt	p.P301L		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	301	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CATCGGATAAGGGCAAGGCTG	0.493000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	51					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	39					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243809335	243809335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr1:243809335C>T	ENST00000366539.1	-	5	489	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	AKT3_ENST00000263826.5_Missense_Mutation_p.E97K|AKT3_ENST00000336199.5_Missense_Mutation_p.E97K|AKT3_ENST00000366540.1_Missense_Mutation_p.E97K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	97	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TCTGTCCATTCTTCCCTATAA	0.313000													17	26					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575410	61575410	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:61575410T>C	ENST00000398571.2	-	15	1956	c.1880A>G	c.(1879-1881)gAt>gGt	p.D627G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	627					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCATGATCATCGTCTTCATC	0.493000													20	20					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072518	9072518	+	Silent	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr19:9072518G>A	ENST00000397910.4	-	3	15131	c.14928C>T	c.(14926-14928)acC>acT	p.T4976T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4978	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						GACCTGTTTGGGTGGTGATGG	0.488000													30	51					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135961693	135961693	+	RNA	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:135961693C>T	ENST00000411440.2	+	0	528					NR_001275.2																						CTCGGATGCCCGTCTACCCCA	0.612000													12	9					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101147691	101147691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr10:101147691C>T	ENST00000356713.4	+	8	2744	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	CNNM1_ENST00000370528.3_Missense_Mutation_p.R748W|CNNM1_ENST00000446890.1_Missense_Mutation_p.R748W|CNNM1_ENST00000370534.4_Missense_Mutation_p.R475W	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	819			R -> Q (in dbSNP:rs2298316).		ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCCCACAACCCGGGGCACACC	0.622000													22	32					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50752244	50752244	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr19:50752244G>T	ENST00000440075.2	+	13	1377	c.1330G>T	c.(1330-1332)Gct>Tct	p.A444S	MYH14_ENST00000596571.1_Splice_Site_p.A436S|MYH14_ENST00000376970.2_Splice_Site_p.A436S|MYH14_ENST00000601313.1_Splice_Site_p.A444S|MYH14_ENST00000598205.1_Splice_Site_p.A444S|MYH14_ENST00000262269.8_Splice_Site_p.A444S|MYH14_ENST00000425460.1_Splice_Site_p.A444S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	436	Myosin head-like.			A -> G (in Ref. 5; BG468611).	axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGTCCCACAGGCTGACTTCGC	0.677000													21	21					1.64293e-13	1.71437e-13	1	1	0
DLG5	9231	broad.mit.edu	37	10	79590555	79590555	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr10:79590555T>A	ENST00000372391.2	-	10	1830	c.1825A>T	c.(1825-1827)Att>Ttt	p.I609F	DLG5_ENST00000372388.2_Missense_Mutation_p.I609F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	609					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCGTGTCAATGGCCGAGTCG	0.552000													20	22					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378551	133378551	+	Silent	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr12:133378551G>A	ENST00000204726.3	-	8	2160	c.1602C>T	c.(1600-1602)caC>caT	p.H534H	GOLGA3_ENST00000450791.2_Silent_p.H534H|GOLGA3_ENST00000537452.1_Silent_p.H534H|GOLGA3_ENST00000456883.2_Silent_p.H534H|GOLGA3_ENST00000545875.1_Silent_p.H534H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	534					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCAGGTCGTGCACTGAAA	0.672000													3	26					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951845	46951845	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr21:46951845T>C	ENST00000311124.4	-	3	559	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	SLC19A1_ENST00000380010.4_Missense_Mutation_p.Y136C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.Y96C|SLC19A1_ENST00000567670.1_Missense_Mutation_p.Y136C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	136					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTAGGAGGAATAGGCGATGCG	0.662000													9	4					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81593759	81593759	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr15:81593759T>G	ENST00000394660.2	+	15	3584	c.3224T>G	c.(3223-3225)cTt>cGt	p.L1075R	IL16_ENST00000302987.4_Missense_Mutation_p.L1075R|IL16_ENST00000394652.2_Missense_Mutation_p.L374R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1075	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACAGTTCCCTTCAGTCTGGT	0.463000													35	34					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96336437	96336437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr10:96336437C>T	ENST00000348459.5	+	10	1012	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	HELLS_ENST00000394044.1_Missense_Mutation_p.H303Y|HELLS_ENST00000394045.1_Missense_Mutation_p.H303Y|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.H303Y|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	303	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AATGTTATATCATGGAACCCA	0.299000													11	13					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946887	227946887	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:227946887G>A	ENST00000396625.3	-	23	1847	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	COL4A4_ENST00000329662.7_Missense_Mutation_p.S547F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	547	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGTGGTCCAGAGGCACCATG	0.398000													4	137					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121175763	121175763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr12:121175763C>T	ENST00000242592.4	+	5	747	c.596C>T	c.(595-597)gCc>gTc	p.A199V	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	199						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GTGGTCTTTGCCAGCACGGAC	0.622000													4	83					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936563	30936563	+	Silent	SNP	C	C	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr19:30936563C>T	ENST00000355537.3	+	2	2241	c.2094C>T	c.(2092-2094)agC>agT	p.S698S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGAGGAGAGCGGGGTCGGAG	0.697000													12	21					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20363514	20363514	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:20363514T>C	ENST00000380338.4	-	7	1577	c.1291A>G	c.(1291-1293)Atg>Gtg	p.M431V	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000380321.1_Missense_Mutation_p.M25V|MLLT3_ENST00000429426.2_Missense_Mutation_p.M428V|MLLT3_ENST00000355930.6_Missense_Mutation_p.M25V	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGCCTCTCCATTTCAGAGTCA	0.458000			T	MLL	ALL								47	61					0	0	1	0	0
TXNDC12	51060	broad.mit.edu	37	1	52489170	52489170	+	Silent	SNP	G	G	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr1:52489170G>T	ENST00000371626.4	-	6	1506	c.432C>A	c.(430-432)gcC>gcA	p.A144A	TXNDC12_ENST00000471493.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	214	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TACCTTGCTCGGCACTGACAT	0.418000													3	55					1	1	1	1	0
ZFP36L2	678	broad.mit.edu	37	2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)cagdel	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764													2	4	---	---	---	---					
FAM47E	100129583	broad.mit.edu	37	4	77177576	77177576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr4:77177576delC	ENST00000515604.1	+	2	346	c.320delC	c.(319-321)gccfs	p.A107fs	FAM47E_ENST00000424749.2_Frame_Shift_Del_p.A107fs|FAM47E_ENST00000515589.1_3'UTR|FAM47E_ENST00000510197.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000339906.6_Intron	NM_001242939.1	NP_001229868.1	Q6ZV65	FA47E_HUMAN	family with sequence similarity 47, member E	107																	CTCTCGCCAGCCCAGCAGGCT	0.567													2	4	---	---	---	---					
SPATA31D3	389762	broad.mit.edu	37	9	84564328	84564328	+	RNA	DEL	A	A	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:84564328delA	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TAACATATGGAAAACAAGAAA	0.413													3	3	---	---	---	---					
TOR2A	27433	broad.mit.edu	37	9	130494894	130494894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr9:130494894delG	ENST00000373284.5	-	4	716	c.670delC	c.(670-672)ctgfs	p.L224fs	TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	224					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						AGCTCCTGCAGGAGGATCTCC	0.677													2	4	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636148	73636149	+	In_Frame_Ins	INS	-	-	CAT			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr13:73636148_73636149insCAT	ENST00000377687.4	+	2	947_948	c.411_412insCAT	c.(412-414)gtc>CATgtc	p.137_138insH	KLF5_ENST00000539231.1_In_Frame_Ins_p.46_47insH|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	137					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCAACATGAACGTCTTCCTCCC	0.460													55	95	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3778456	3778468	+	Frame_Shift_Del	DEL	GCAGCTGCCTCCG	GCAGCTGCCTCCG	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr16:3778456_3778468delGCAGCTGCCTCCG	ENST00000262367.5	-	31	7389_7401	c.6580_6592delCGGAGGCAGCTGC	c.(6580-6594)cggaggcagctgctgfs	p.RRQLL2194fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.RRQLL2156fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2194					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tgctgctgcagcagctgcCTCCGTAACATTTCT	0.606			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						22	43	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58621251	58621252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr16:58621251_58621252insT	ENST00000317147.5	-	5	707_708	c.375_376insA	c.(373-378)caagagfs	p.E126fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.E126fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.E126fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	126					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCACTCACCTCTTGTACTTTGC	0.327													29	55	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DK-A6B0-01A-11D-A31L-08	TCGA-DK-A6B0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0db67942-1e14-448d-a7d5-b46e15557cd1	dd33d326-0c08-4ffb-8f1d-d1f4a7bbb015	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	161	---	---	---	---