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
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													4	71					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510462	49510462	+	Silent	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:49510462G>C	ENST00000396029.3	-	5	1356	c.789C>G	c.(787-789)ccC>ccG	p.P263P	ADNP_ENST00000349014.3_Silent_p.P263P|ADNP_ENST00000371602.4_Silent_p.P263P|ADNP_ENST00000396032.3_Silent_p.P263P	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTTGGATCGGGGAACCACTA	0.488000													5	67					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	195					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8315968	8315968	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:8315968C>G	ENST00000251363.5	+	3	308	c.8C>G	c.(7-9)tCc>tGc	p.S3C	CERS4_ENST00000559336.1_Missense_Mutation_p.S3C|CERS4_ENST00000558331.1_Intron|CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.S3C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	3						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGAATGCTGTCCAGTTTCAAC	0.577000													5	452					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830938	72830938	+	Silent	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:72830938G>A	ENST00000268489.5	-	9	6315	c.5643C>T	c.(5641-5643)gtC>gtT	p.V1881V	ZFHX3_ENST00000397992.5_Silent_p.V967V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1881					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTCTTTGATGACCAATTTGT	0.542000													24	111					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100510212	100510212	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:100510212T>A	ENST00000395209.3	+	20	2747	c.2220T>A	c.(2218-2220)aaT>aaA	p.N740K	DRP2_ENST00000541709.1_Missense_Mutation_p.N662K|DRP2_ENST00000402866.1_Missense_Mutation_p.N740K|DRP2_ENST00000538510.1_Missense_Mutation_p.N740K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	740					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTTCTTTAATGACAGCTTGT	0.463000													7	222					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742868	242742868	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:242742868C>T	ENST00000192314.6	+	4	615	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	162					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCCCGCCTTCCGGGGCGCCCC	0.602000													6	23					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349694	100349694	+	RNA	SNP	G	G	A	rs13241331		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:100349694G>A	ENST00000542585.1	+	0	2114				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_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)			AAAACCCACCGTCCCCACAGA	0.517000													5	137					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	113					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53571499	53571499	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:53571499T>C	ENST00000025008.5	-	13	2250	c.1727A>G	c.(1726-1728)gAt>gGt	p.D576G	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D576G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D576G	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	576					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGAAATATCTGGAAGTTC	0.289000													10	30					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53815440	53815440	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:53815440A>T	ENST00000396328.1	-	19	3467	c.3228T>A	c.(3226-3228)tgT>tgA	p.C1076*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1076*|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1073*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1086*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1076										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCCAAGGCACATCTGTCAG	0.458000													61	208					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36051822	36051822	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:36051822T>C	ENST00000262623.3	-	5	461	c.433A>G	c.(433-435)Atc>Gtc	p.I145V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	145					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGAGAGCGATTGCCAGGTAC	0.577000													10	94					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801203	169801203	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:169801203C>A	ENST00000263817.6	-	21	2646	c.2522G>T	c.(2521-2523)gGg>gTg	p.G841V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	841	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AATATCTTGCCCCAGCATTGC	0.458000													12	181					6.40141e-05	6.65747e-05	1	1	0
ABHD12B	145447	broad.mit.edu	37	14	51370812	51370812	+	Silent	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr14:51370812T>C	ENST00000337334.2	+	12	978	c.963T>C	c.(961-963)aaT>aaC	p.N321N	ABHD12B_ENST00000353130.1_Silent_p.N244N|ABHD12B_ENST00000395752.1_Silent_p.N214N|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	321							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTGCACGCAATGCATACAGGA	0.433000													5	189					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975407	183975407	+	Missense_Mutation	SNP	C	C	T	rs146338541		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr3:183975407C>T	ENST00000402825.3	+	2	343	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ECE2_ENST00000324557.4_Missense_Mutation_p.R115W|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	115	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGATGTGCGGAAGCTGGA	0.612000													26	39					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127765811	127765811	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:127765811C>T	ENST00000336505.5	-	10	958	c.900G>A	c.(898-900)atG>atA	p.M300I	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.M323I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	300					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GAGCTTGTAACATCCGGAACA	0.393000													20	101					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616420	86616420	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:86616420A>G	ENST00000325875.3	+	3	851	c.519A>G	c.(517-519)atA>atG	p.I173M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	173					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGGAAATATATCTTTCCGTC	0.358000													5	58					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131249199	131249199	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:131249199C>A	ENST00000357668.1	-	3	255	c.228G>T	c.(226-228)aaG>aaT	p.K76N	ASAP1_ENST00000518721.1_Missense_Mutation_p.K76N			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	76					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTTTACAGACTTCTTCACTT	0.289000													4	17					1	1	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33246141	33246141	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:33246141C>T	ENST00000404816.2	+	3	1084	c.731C>T	c.(730-732)cCt>cTt	p.P244L	LTBP1_ENST00000354476.3_Missense_Mutation_p.P244L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	244					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCGTGGGGCCCTCCTGAGCAA	0.572000													6	206					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	94					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091947	143091947	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr6:143091947G>A	ENST00000367603.2	-	5	4671	c.3929C>T	c.(3928-3930)tCt>tTt	p.S1310F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1310F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCTGCTCAGAGGGCGTTTC	0.507000													5	233					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741322	207741322	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:207741322G>T	ENST00000367049.4	+	25	4106	c.4106G>T	c.(4105-4107)cGc>cTc	p.R1369L	CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.R919L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R919L|CR1_ENST00000367053.1_Missense_Mutation_p.R919L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCACCATCCGCTGCACAAGT	0.547000													13	165					4.3838e-07	4.6522e-07	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137814301	137814301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:137814301C>T	ENST00000409968.1	+	3	629	c.451C>T	c.(451-453)Cga>Tga	p.R151*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.R10*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R151*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R120*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAGCTGAACCGAACTGTGGT	0.537000													20	90					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642000													7	207					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	84					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906793	129906793	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr10:129906793C>G	ENST00000368654.3	-	13	3686	c.3311G>C	c.(3310-3312)gGc>gCc	p.G1104A	MKI67_ENST00000368653.3_Missense_Mutation_p.G744A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1104	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTTGAAGCCAGCCAGGTC	0.507000													34	275					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627000													5	58					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643082	1643082	+	Missense_Mutation	SNP	T	T	C	rs59610171		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1643082T>C	ENST00000399682.1	-	1	286	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	81	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAGAGCCATAGCCCCCCTT	0.657000													5	308					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22261130	22261130	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:22261130C>T	ENST00000324559.8	+	9	1095	c.778C>T	c.(778-780)Cca>Tca	p.P260S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	260						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATTGGAAGCCATCAGAACC	0.398000													27	185					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254054	49254054	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49254054A>G	ENST00000310160.3	-	4	1459	c.485T>C	c.(484-486)cTg>cCg	p.L162P		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	162					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGAGCTTCAGGAAAGGATC	0.617000													34	310					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54565249	54565249	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:54565249C>T	ENST00000251636.5	-	21	3434	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1096							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACCACTGGGTCAAGGCAGCCA	0.388000													4	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179482973	179482973	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:179482973C>G	ENST00000589042.1	-	252	47436	c.47212G>C	c.(47212-47214)Gtt>Ctt	p.V15738L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6865L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6673L|TTN_ENST00000359218.5_Missense_Mutation_p.V6798L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14097L|TTN_ENST00000342992.6_Missense_Mutation_p.V13170L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14097	Fibronectin type-III 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTGCCAACTCTGTTTCTT	0.418000													11	157					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93181726	93181726	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:93181726T>C	ENST00000322349.8	-	22	3331	c.3067A>G	c.(3067-3069)Aaa>Gaa	p.K1023E		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1023	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCTGACTTTTTTCATAGTTG	0.388000													7	36					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66928503	66928503	+	Silent	SNP	A	A	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr17:66928503A>C	ENST00000269080.2	-	6	860	c.723T>G	c.(721-723)tcT>tcG	p.S241S	ABCA8_ENST00000586539.1_Silent_p.S241S|ABCA8_ENST00000430352.2_Silent_p.S241S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	241						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGACATTAACAGATGCATAGT	0.378000													6	52					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	96					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42154399	42154399	+	Translation_Start_Site	SNP	A	A	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:42154399A>T	ENST00000300398.4	+	0	2007				MEI1_ENST00000540833.1_Missense_Mutation_p.H401L|MEI1_ENST00000400107.1_Missense_Mutation_p.H29L|MEI1_ENST00000401548.3_Missense_Mutation_p.H661L|MEI1_ENST00000540880.1_De_novo_Start_OutOfFrame			Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1								binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCCTGCAGCATGGGCTGCCC	0.527000													8	56					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32058048	32058048	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:32058048C>G	ENST00000438447.1	+	12	2427	c.2039C>G	c.(2038-2040)cCc>cGc	p.P680R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P680R			O15018	PDZD2_HUMAN	PDZ domain containing 2	680					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCTCACACCCTGCTCGACA	0.532000											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	82					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111367947	111367947	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr13:111367947G>T	ENST00000375774.3	+	1	619	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	53					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGACGAGTTGATTTGAACGT	0.592000													9	45					5.4927e-09	5.95043e-09	1	1	0
BANP	54971	broad.mit.edu	37	16	88061220	88061220	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:88061220C>T	ENST00000393207.1	+	8	1224	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	BANP_ENST00000355163.5_Missense_Mutation_p.R310W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000538234.1_Missense_Mutation_p.R343W|BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	335	Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAGCTTCTCGCGGAGAACGCC	0.682000													4	162					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49131530	49131530	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49131530G>T	ENST00000443164.1	+	4	1759	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	SPHK2_ENST00000245222.4_Missense_Mutation_p.G290W|SPHK2_ENST00000601712.1_Missense_Mutation_p.G254W|SPHK2_ENST00000600537.1_Missense_Mutation_p.G231W|SPHK2_ENST00000340932.3_Missense_Mutation_p.G254W|SPHK2_ENST00000599748.1_Missense_Mutation_p.G254W|SPHK2_ENST00000599029.1_Missense_Mutation_p.G254W|SPHK2_ENST00000598088.1_Missense_Mutation_p.G290W			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	290					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACCAGCACGGGGGGTAGGT	0.622000													4	87					0.00909568	0.00927403	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871941	51871941	+	Silent	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:51871941G>C	ENST00000371497.5	+	2	2831	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	TSHZ2_ENST00000329613.6_Silent_p.L645L|TSHZ2_ENST00000603338.2_Silent_p.L645L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	648					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACCGAGCTGGGTCCCCTGA	0.567000													6	107					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	56					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127897	152127897	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:152127897C>T	ENST00000316073.3	-	3	1742	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	560	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCTGACCGTAGTGGGAA	0.502000													7	901					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725620	12725620	+	Silent	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:12725620G>A	ENST00000380682.1	+	13	1826	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	440	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGACTCTCCTGGTTGGGCCCC	0.458000													5	154					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44176008	44176008	+	Splice_Site	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:44176008C>G	ENST00000417257.1	-	13	1205		c.e13-1		FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Splice_Site	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5							cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATCCCTGCTCTGAGGTTAAA	0.498000													13	80					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807628	18807628	+	Silent	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:18807628T>C	ENST00000400664.1	+	1	205	c.153T>C	c.(151-153)aaT>aaC	p.N51N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	51						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGGAATGGCCAGGCAG	0.667000													6	43					0	0	1	0	0
PUSL1	126789	broad.mit.edu	37	1	1245216	1245216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:1245216delC	ENST00000379031.5	+	5	706	c.629delC	c.(628-630)acfs	p.T210fs	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCTTGGTCACCCCCGAGGAG	0.667													2	4	---	---	---	---					
AC074391.1	0	broad.mit.edu	37	2	65738847	65738847	+	RNA	DEL	T	T	-	rs111377658		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294													2	4	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													10	50	---	---	---	---					
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A	rs80359854		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)aaafs	p.K251fs	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome				7	123	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													7	19	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													93	402	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCCGTGGCTCC	rs71025763		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1651199_1651200insGGCCGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCCGTGGCTCC	c.(127-132)gggctg>ggGGCCGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													37	118	---	---	---	---					
KRT85	3891	broad.mit.edu	37	12	52757867	52757867	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:52757867delC	ENST00000257901.3	-	4	846	c.771delG	c.(769-771)agfs	p.R258fs	KRT85_ENST00000544265.1_Frame_Shift_Del_p.R46fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	258	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATAGAGGCGCCTCAGGAAGC	0.612													14	228	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													7	312	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cccfs	p.P1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728													14	40	---	---	---	---					
MIR3648	0	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													5	7	---	---	---	---