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
ECT2L	345930	broad.mit.edu	37	6	139167808	139167808	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:139167808G>A	ENST00000423192.1	+	7	1058	c.897G>A	c.(895-897)gcG>gcA	p.A299A	ECT2L_ENST00000367682.2_Silent_p.A299A|ECT2L_ENST00000541398.1_Silent_p.A230A			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	299					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGATTCCTGCGTATGAGGTAG	0.383000			"""N, Splice, Mis"""		ETP ALL								104	145					0	0	0.870114	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328365	62328365	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:62328365G>A	ENST00000369996.1	+	1	345	c.245G>A	c.(244-246)tGg>tAg	p.W82*	RTEL1_ENST00000318100.4_Silent_p.L1384L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1384L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	82					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACGCAGTTCTGGAACTACCTA	0.697000													5	14					0	0	0.217242	0	0
ANK1	286	broad.mit.edu	37	8	41530033	41530033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:41530033C>G	ENST00000396942.1	-	38	5018	c.4935G>C	c.(4933-4935)agG>agC	p.R1645S	ANK1_ENST00000396945.1_Missense_Mutation_p.R1645S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1645S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1645S|ANK1_ENST00000265709.8_Missense_Mutation_p.R1686S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1645S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1645S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1645	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTTCTGACCTCTGACCTT	0.537000													7	177					0	0	0.248553	0	0
GCNT2	2651	broad.mit.edu	37	6	10529618	10529618	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:10529618G>A	ENST00000379597.3	+	1	1030	c.474G>A	c.(472-474)tcG>tcA	p.S158S	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.S158S			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	158						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.S158S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGAAGGAGTCGGTTGTCTATG	0.532000													15	21					0	0	0.457914	0	0
MTMR2	8898	broad.mit.edu	37	11	95569371	95569371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:95569371G>A	ENST00000393223.3	-	16	2157	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	MTMR2_ENST00000346299.5_Missense_Mutation_p.R571C|MTMR2_ENST00000409459.1_Missense_Mutation_p.R499C|MTMR2_ENST00000352297.7_Missense_Mutation_p.R499C	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	571	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTAGGTGGCGCATGCTGGCT	0.453000													5	291					0	0	0.184627	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	77					0	0	0.217242	0	0
MAP1A	4130	broad.mit.edu	37	15	43821514	43821514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:43821514C>A	ENST00000382031.1	+	5	8588	c.8557C>A	c.(8557-8559)Cca>Aca	p.P2853T	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2615T|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2615T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2615						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCCAAGCCAGCGTCCCC	0.662000													25	22					2.79863e-10	3.33683e-10	0.681144	1	0
XIRP2	129446	broad.mit.edu	37	2	168105632	168105632	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr2:168105632A>G	ENST00000409195.1	+	9	7819	c.7730A>G	c.(7729-7731)aAt>aGt	p.N2577S	XIRP2_ENST00000295237.9_Missense_Mutation_p.N2577S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N2355S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2402					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGCCAAAATCAACACATA	0.343000													51	55					0	0	0.870114	0	0
MRPL27	51264	broad.mit.edu	37	17	48447949	48447949	+	Splice_Site	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:48447949T>A	ENST00000442592.3	-	2	77		c.e2-2		MRPL27_ENST00000225969.4_Splice_Site|MRPL27_ENST00000503633.1_Splice_Site|MRPL27_ENST00000507088.1_Splice_Site|MRPL27_ENST00000511860.1_Splice_Site			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27						translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGGATGTAACTGCAGAGAAAA	0.498000													5	147					0	0	0.184627	0	0
KRT14	3861	broad.mit.edu	37	17	39740135	39740135	+	Silent	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:39740135G>T	ENST00000167586.6	-	4	890	c.804C>A	c.(802-804)gtC>gtA	p.V268V		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	268	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCTCCACATTGACATCTCCAC	0.567000													31	44					1.75199e-13	2.17246e-13	0.717897	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216155	20216155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:20216155G>A	ENST00000331723.1	+	1	569	c.569G>A	c.(568-570)tGc>tAc	p.C190Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTGGCCTGCATGGACACC	0.483000													17	53					0	0	0.500413	0	0
NOS1AP	9722	broad.mit.edu	37	1	162124256	162124256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:162124256G>A	ENST00000361897.5	+	2	569	c.167G>A	c.(166-168)cGc>cAc	p.R56H	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R56H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	56	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.R56H(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCTGCCATGCGCCGGATACGG	0.607000													10	15					0	0	0.411799	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													6	78					0	0	0.248553	0	0
EGFL8	80864	broad.mit.edu	37	6	32134741	32134741	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:32134741G>T	ENST00000395512.1	+	5	494	c.389G>T	c.(388-390)tGc>tTc	p.C130F	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.C130F			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	130	EGF-like 1.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCTGACCAGTGCGAGTGCGCC	0.652000													4	95					0.00024832	0.000285108	0.150653	1	0
BEND2	139105	broad.mit.edu	37	X	18195875	18195875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:18195875G>A	ENST00000380033.4	-	10	1576	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	BEND2_ENST00000380030.3_Missense_Mutation_p.P391S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	482										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCTTTTTGGATCACCAAGA	0.378000													14	107					0	0	0.479597	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445930	87445930	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr16:87445930T>G	ENST00000268616.4	-	12	2203	c.1986A>C	c.(1984-1986)caA>caC	p.Q662H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	662					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.Q662H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCACACTTATTTGCACATTAT	0.532000													127	84					0	0	0.870114	0	0
PIGC	5279	broad.mit.edu	37	1	172411036	172411036	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:172411036G>A	ENST00000367728.1	-	1	2190	c.727C>T	c.(727-729)Cta>Tta	p.L243L	PIGC_ENST00000258324.1_Silent_p.L243L|PIGC_ENST00000344529.4_Silent_p.L243L|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	243					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						ATGGACAGTAGGCCTCCCACG	0.498000													44	30					0	0	0.840704	0	0
RNF213	57674	broad.mit.edu	37	17	78326742	78326742	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:78326742C>A	ENST00000582970.1	+	33	10449	c.10306C>A	c.(10306-10308)Ctg>Atg	p.L3436M	RNF213_ENST00000336301.6_Missense_Mutation_p.L1509M|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L3485M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCACAGGGCTGTGGCAGTC	0.562000													9	139					0.000673444	0.000745599	0.361761	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200827083	200827083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:200827083G>A	ENST00000358823.2	+	17	4603	c.4333G>A	c.(4333-4335)Gct>Act	p.A1445T	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A1429T|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A1456T	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1456	CKK.					cytoplasm|microtubule	protein binding										CCACATACCCGCTAAAACTTT	0.373000													4	157					0	0	0.150653	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	49					0	0	0.184627	0	0
DOCK3	1795	broad.mit.edu	37	3	51198105	51198105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:51198105G>T	ENST00000266037.9	+	12	1032	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	337						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAAAGGAAGAAAAGGATTT	0.438000													5	7					0.000602214	0.00067886	0.184627	1	0
SHPRH	257218	broad.mit.edu	37	6	146276439	146276439	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr6:146276439C>T	ENST00000367503.3	-	2	418	c.20G>A	c.(19-21)cGt>cAt	p.R7H	SHPRH_ENST00000438092.2_Missense_Mutation_p.R7H|SHPRH_ENST00000367505.2_Missense_Mutation_p.R7H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R7H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	7					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGAGGAGCACGTTTCCGTCG	0.428000													42	55					0	0	0.864702	0	0
ODF3	113746	broad.mit.edu	37	11	198284	198284	+	Silent	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:198284A>G	ENST00000325113.4	+	4	713	c.396A>G	c.(394-396)cgA>cgG	p.R132R	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Silent_p.R132R	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	132					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCATTCCGAGTGGACAGCA	0.607000													7	19					0	0	0.307466	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	13					0	0	0.115264	0	0
ZNF414	84330	broad.mit.edu	37	19	8576734	8576734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:8576734T>A	ENST00000393927.4	-	5	754	c.641A>T	c.(640-642)gAc>gTc	p.D214V	ZNF414_ENST00000255616.8_Missense_Mutation_p.D214V	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CGGCTCTCGGTCCAGGGCCGG	0.746000													5	3					0	0	0.184627	0	0
C17orf97	400566	broad.mit.edu	37	17	263553	263553	+	Missense_Mutation	SNP	C	C	A	rs71369085		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:263553C>A	ENST00000360127.6	+	2	935	c.919C>A	c.(919-921)Ccc>Acc	p.P307T	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	337	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGGCTTCCACCCCGACCCCAA	0.672000													4	44					0.150653	0.153123	0.150653	1	0
SGK2	10110	broad.mit.edu	37	20	42208658	42208658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr20:42208658A>G	ENST00000373100.1	+	13	1356	c.896A>G	c.(895-897)gAc>gGc	p.D299G	SGK2_ENST00000423407.3_Missense_Mutation_p.D299G|SGK2_ENST00000373092.3_Missense_Mutation_p.D299G|SGK2_ENST00000341458.4_Missense_Mutation_p.D359G|SGK2_ENST00000373077.1_Missense_Mutation_p.D298G|SGK2_ENST00000426287.1_Missense_Mutation_p.D325G			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	359	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.D359G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AACTGGGATGACCTGTACCAC	0.498000													19	28					0	0	0.608945	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282113	71282113	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:71282113T>C	ENST00000335793.3	-	2	921	c.527A>G	c.(526-528)gAc>gGc	p.D176G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D106G			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	176					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGAGGGGGTCAGGGGAATG	0.657000													25	28					0	0	0.667858	0	0
CLDN18	51208	broad.mit.edu	37	3	137749947	137749947	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr3:137749947G>T	ENST00000183605.5	+	5	976	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CLDN18_ENST00000343735.4_Missense_Mutation_p.E250D	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	250					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.E250D(2)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAGAGGACGAGGTACAATCTT	0.517000													46	66					3.7052e-28	4.78589e-28	0.864702	1	0
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343000													5	68					0.014758	0.0152499	0.184627	1	0
ASPM	259266	broad.mit.edu	37	1	197112489	197112489	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:197112489A>G	ENST00000367409.4	-	3	1149	c.893T>C	c.(892-894)cTt>cCt	p.L298P	ASPM_ENST00000294732.7_Missense_Mutation_p.L298P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	298					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTGGGGGTAAGACTAAGTTT	0.318000													38	63					0	0	0.819951	0	0
IL3RA	3563	broad.mit.edu	37	X	1484134	1484134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:1484134C>T	ENST00000331035.4	+	9	1212	c.863C>T	c.(862-864)cCc>cTc	p.P288L	IL3RA_ENST00000381469.2_Missense_Mutation_p.P210L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	288						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGGAGCACCCCCCAGCGCTTC	0.652000													15	36					0	0	0.539581	0	0
RFX4	5992	broad.mit.edu	37	12	107113755	107113755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:107113755C>A	ENST00000392842.1	+	12	1570	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.H395N|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.H292N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	386	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding	p.H386N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGAGTTTGACCATCTCTTGGA	0.473000													16	39					8.28177e-16	1.0479e-15	0.557998	1	0
PFKP	5214	broad.mit.edu	37	10	3178006	3178006	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:3178006A>G	ENST00000381075.2	+	23	2401	c.2177A>G	c.(2176-2178)gAg>gGg	p.E726G	PFKP_ENST00000381072.1_Missense_Mutation_p.E152G|PFKP_ENST00000381125.4_Missense_Mutation_p.E734G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	734					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.E734G(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGTGGCAGAGCTGAAGAAG	0.413000													26	6					0	0	0.729181	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864204	102864204	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622000													3	67					0	0	0.150653	0	0
MRPL17	63875	broad.mit.edu	37	11	6704488	6704488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr11:6704488C>T	ENST00000288937.6	-	1	144	c.40G>A	c.(40-42)Gta>Ata	p.V14I		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	14					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGGCGAAATACGCGGCCATGG	0.637000											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	33					0	0	0.115264	0	0
TCF7L2	6934	broad.mit.edu	37	10	114919707	114919707	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:114919707G>A	ENST00000355995.4	+	14	1905	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TCF7L2_ENST00000369386.1_Silent_p.A92A|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Silent_p.A182A|TCF7L2_ENST00000369397.4_Silent_p.A443A|TCF7L2_ENST00000536810.1_Silent_p.A449A|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.A443A|TCF7L2_ENST00000534894.1_Silent_p.A466A|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000355717.4_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	466	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AATGCCGAGCGCGCTTTGGCC	0.512000			T	VTI1A	colorectal								17	17					0	0	0.575678	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21762877	21762877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:21762877C>T	ENST00000206660.6	+	2	127	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R43W|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R43W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	43					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGGATGAACCGGGAGGAATT	0.408000													16	25					0	0	0.500413	0	0
MYL6B	140465	broad.mit.edu	37	12	56547746	56547746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr12:56547746C>A	ENST00000553066.1	+	2	466	c.44C>A	c.(43-45)cCc>cAc	p.P15H	MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.P15H|MYL6B_ENST00000552568.1_Missense_Mutation_p.P15H|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.P15H			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	15					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)			CCAGCAGGGCCCTCCATCTCC	0.587000													3	37					0.004672	0.00499421	0.115264	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	65					0	0	0.115264	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	28					0	0	0.520397	0	0
BRF1	2972	broad.mit.edu	37	14	105692446	105692446	+	Silent	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr14:105692446C>T	ENST00000546474.1	-	10	15967	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	BRF1_ENST00000392557.4_Silent_p.R132R|BRF1_ENST00000446501.2_Silent_p.R98R|BRF1_ENST00000379937.2_Silent_p.R309R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Silent_p.R132R|BRF1_ENST00000440513.3_Silent_p.R221R|BRF1_ENST00000327359.3_Silent_p.R221R	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	336					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGGCCTTTGGCCGGCTGTTTT	0.463000													4	125					0	0	0.184627	0	0
FGB	2244	broad.mit.edu	37	4	155490819	155490819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr4:155490819C>T	ENST00000302068.4	+	7	1175	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	FGB_ENST00000509493.1_Missense_Mutation_p.S152L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	371	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S371L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCAGATCTCAGTGAACAAA	0.448000													21	42					0	0	0.592651	0	0
KNDC1	85442	broad.mit.edu	37	10	135026377	135026377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr10:135026377C>T	ENST00000304613.3	+	24	4415	c.4394C>T	c.(4393-4395)aCg>aTg	p.T1465M	KNDC1_ENST00000368572.2_Missense_Mutation_p.T1467M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1465					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.T1465M(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACTTCCTGACGGAGTACAGC	0.657000													17	22					0	0	0.520397	0	0
REXO1	57455	broad.mit.edu	37	19	1818781	1818781	+	Silent	SNP	G	G	A	rs138422554	by1000genomes	TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr19:1818781G>A	ENST00000170168.4	-	9	2920	c.2826C>T	c.(2824-2826)aaC>aaT	p.N942N		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	942						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTAGCCGTTCTCCTTGA	0.667000													11	19					0	0	0.411799	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581481	140581481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr5:140581481C>T	ENST00000354757.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R347W	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682000													5	105					0	0	0.184627	0	0
CEP152	22995	broad.mit.edu	37	15	49097837	49097837	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:49097837C>A	ENST00000380950.2	-	2	197	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	CEP152_ENST00000325747.5_Missense_Mutation_p.D4Y|CEP152_ENST00000399334.3_Missense_Mutation_p.D4Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	4					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCAAAGTCTAATGACATG	0.398000													4	63					2.56e-06	2.99472e-06	0.150653	1	0
TEX9	374618	broad.mit.edu	37	15	56665657	56665657	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr15:56665657G>T	ENST00000561221.2	+	3	143	c.138G>T	c.(136-138)ttG>ttT	p.L46F	TEX9_ENST00000559142.1_3'UTR|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000352903.2_Missense_Mutation_p.L46F|TEX9_ENST00000558083.2_5'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	46										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		ATGCAGAATTGCAGGCAAAAA	0.274000													10	10					1.61879e-10	1.96794e-10	0.411799	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	14					0	0	0.115264	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047662	46047662	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr21:46047662T>A	ENST00000397911.3	+	1	623	c.574T>A	c.(574-576)Tgc>Agc	p.C192S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	192	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TAAGCCTGTCTGCTGCAAACC	0.597000													9	225					0	0	0.335167	0	0
FAM135B	51059	broad.mit.edu	37	8	139164859	139164859	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr8:139164859T>A	ENST00000395297.1	-	13	2029	c.1859A>T	c.(1858-1860)aAg>aTg	p.K620M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	620										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCTATTCCCTTTCCTAGAGT	0.473000										HNSCC(54;0.14)			39	88					0	0	0.804634	0	0
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1861-1866)ggtcttfs	p.L622fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599													14	56	---	---	---	---					
CGN	57530	broad.mit.edu	37	1	151491486	151491487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:151491486_151491487insT	ENST00000271636.7	+	2	624_625	c.491_492insT	c.(490-492)gtcfs	p.V164fs		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	158	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGAAAGTGGCTTCCCCAGGTA	0.584													7	123	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152084158	152084175	+	In_Frame_Del	DEL	TCTTGCTCCCGCCTTAGT	TCTTGCTCCCGCCTTAGT	-			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:152084158_152084175delTCTTGCTCCCGCCTTAGT	ENST00000368804.1	-	2	1517_1534	c.1518_1535delACTAAGGCGGGAGCAAGA	c.(1516-1536)cag>ca	p.QLRREQE506del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	506	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGC	0.651													16	152	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													3	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													4	8	---	---	---	---					
UPK3A	7380	broad.mit.edu	37	22	45691552	45691553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5979-01A-11D-1683-08	TCGA-CV-5979-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2c31b58-c5b3-4fc3-be99-b978d2961f86	360e4ed7-d780-4769-98e9-3dd07468d2b0	g.chr22:45691552_45691553insC	ENST00000216211.4	+	6	848_849	c.816_817insC	c.(814-819)ggcgccfs	p.A273fs	UPK3A_ENST00000396082.2_Frame_Shift_Ins_p.A152fs	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	273			P -> L (in RADYS; with severe vesicoureteric reflux; normal targeting to the cell surface).		epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAACCGGGGGCCGCCACTGGA	0.629													9	80	---	---	---	---