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
MNDA	4332	broad.mit.edu	37	1	158817562	158817562	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:158817562T>C	ENST00000368141.4	+	6	1293	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	344	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACAGGATAATACAGGATCCA	0.378000													12	73					0	0	0.013537	0	0
BEND2	139105	broad.mit.edu	37	X	18192280	18192280	+	Silent	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:18192280A>C	ENST00000380033.4	-	12	1983	c.1851T>G	c.(1849-1851)tcT>tcG	p.S617S	BEND2_ENST00000380030.3_Silent_p.S526S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	617										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAAACATCCAAGAACAGCCTT	0.438000													25	58					0	0	0.003954	0	0
ZNF644	84146	broad.mit.edu	37	1	91404992	91404992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:91404992G>C	ENST00000370440.1	-	3	2136	c.1919C>G	c.(1918-1920)aCt>aGt	p.T640S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S			Q9H582	ZN644_HUMAN	zinc finger protein 644	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAATGTTTTAGTGCTATCACT	0.348000													3	112					0	0	0.004672	0	0
GPR3	2827	broad.mit.edu	37	1	27721255	27721255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:27721255C>T	ENST00000374024.3	+	2	1052	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	318					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTCCTCTTCCAAGATCCCC	0.527000													26	156					0	0	0.007291	0	0
STK33	65975	broad.mit.edu	37	11	8414087	8414087	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:8414087G>A	ENST00000447869.1	-	12	2433	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	STK33_ENST00000396672.1_Silent_p.G505G|STK33_ENST00000534493.1_Silent_p.G464G|STK33_ENST00000396673.1_Silent_p.G439G|STK33_ENST00000315204.1_Silent_p.G505G|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Silent_p.G318G			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAG	0.483000													34	201					0	0	0.004289	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398000													12	101					0	0	0.013537	0	0
NTM	50863	broad.mit.edu	37	11	132016253	132016253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:132016253G>A	ENST00000374786.1	+	2	724	c.245G>A	c.(244-246)tGg>tAg	p.W82*	NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000539799.1_Nonsense_Mutation_p.W82*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	82	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACAAGTGGTGCCTGGAT	0.567000													14	61					0	0	0.003163	0	0
IRF1	3659	broad.mit.edu	37	5	131819736	131819736	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:131819736G>A	ENST00000245414.4	-	10	1143	c.885C>T	c.(883-885)ttC>ttT	p.F295F	IRF1_ENST00000405885.2_Silent_p.F295F	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	295					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCAGATCTGTGAAGACACGCT	0.582000													5	59					0	0	0.000602	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378784	204378784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:204378784G>A	ENST00000367188.4	-	1	2135	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	586					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTTGAGTCACGACAGCCTTTC	0.438000													4	54					0	0	0.009096	0	0
CMYA5	202333	broad.mit.edu	37	5	79030301	79030301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:79030301C>G	ENST00000446378.2	+	2	5744	c.5713C>G	c.(5713-5715)Caa>Gaa	p.Q1905E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1905						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGGCTAGTCAACACGAACA	0.468000													7	42					0	0	0.003080	0	0
ZNF568	374900	broad.mit.edu	37	19	37440746	37440746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:37440746T>G	ENST00000415168.1	+	5	875	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	ZNF568_ENST00000333987.7_Missense_Mutation_p.F231V|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGACAAGACTTCAGTCATAA	0.388000													10	57					0	0	0.006214	0	0
LAMB4	22798	broad.mit.edu	37	7	107667339	107667339	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:107667339C>G	ENST00000388780.3	-	34	5251	c.5168G>C	c.(5167-5169)aGa>aCa	p.R1723T	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388781.3_Intron|LAMB4_ENST00000205386.4_Intron			A4D0S4	LAMB4_HUMAN	laminin, beta 4	0	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTTTTCTATCTTGCTGAGTT	0.458000													7	46					0	0	0.003080	0	0
ITGA3	3675	broad.mit.edu	37	17	48148225	48148225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:48148225C>T	ENST00000320031.8	+	5	1012	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*|ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	228					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTACATGATTCAGCGCAAGGA	0.502000													37	229					0	0	0.006999	0	0
TULP4	56995	broad.mit.edu	37	6	158924402	158924402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:158924402C>T	ENST00000367097.3	+	13	5064	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1236					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAGCCTCTCCTATTGCACC	0.607000													14	85					0	0	0.008871	0	0
SNORA71C	677839	broad.mit.edu	37	20	37058387	37058387	+	RNA	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:37058387T>C	ENST00000364642.1	-	0	59					NR_003017.2																						CGGCAGTTCCTCTCCCTGCAC	0.587000													3	89					0	0	0.004672	0	0
ZNF281	23528	broad.mit.edu	37	1	200377024	200377024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200377024C>A	ENST00000294740.2	-	2	1934	c.1810G>T	c.(1810-1812)Gat>Tat	p.D604Y	ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y|ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	604					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AAAACCTCATCAGGAATTCCA	0.388000													7	52					2.7689e-08	5.22864e-08	0.001984	1	0
OR4D6	219983	broad.mit.edu	37	11	59224763	59224763	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:59224763A>G	ENST00000300127.2	+	1	353	c.330A>G	c.(328-330)gcA>gcG	p.A110A		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTGGTGGGGCAGATATTTTTT	0.488000													23	163					0	0	0.002780	0	0
FAT1	2195	broad.mit.edu	37	4	187541760	187541760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:187541760C>A	ENST00000441802.2	-	10	6189	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1994	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E1994K(1)|p.E1997K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCGGCCTCGGTGGAATTC	0.418000										HNSCC(5;0.00058)			101	237					6.65942e-36	1.28881e-35	0.014410	1	0
TBC1D1	23216	broad.mit.edu	37	4	38134714	38134714	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:38134714A>G	ENST00000261439.4	+	19	3497	c.3142A>G	c.(3142-3144)Atg>Gtg	p.M1048V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1048						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGTATTTGAAATGGACATCGC	0.423000													8	51					0	0	0.004482	0	0
CACNG5	27091	broad.mit.edu	37	17	64876761	64876761	+	Missense_Mutation	SNP	G	G	A	rs145214481		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:64876761G>A	ENST00000533854.1	+	4	608	c.371G>A	c.(370-372)cGt>cAt	p.R124H	CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H|CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	124					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGACACATCCGTCCCCACCGG	0.458000													20	129					0	0	0.008871	0	0
KLHL31	401265	broad.mit.edu	37	6	53516703	53516703	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:53516703A>G	ENST00000370905.3	-	3	1738	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	KLHL31_ENST00000407079.1_Missense_Mutation_p.L533P	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCCACGGTGAGCACGTCCAC	0.736000													3	17					0	0	0.004672	0	0
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:93617301C>G	ENST00000394236.3	-	8	1156	c.840G>C	c.(838-840)aaG>aaC	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383000													5	64					0	0	0.001168	0	0
TRMT11	60487	broad.mit.edu	37	6	126334221	126334221	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:126334221C>T	ENST00000334379.5	+	11	1234	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	TRMT11_ENST00000368332.3_Silent_p.V371V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	371					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GAAGACTAGTCTATTGGTTAC	0.343000													7	30					0	0	0.003080	0	0
PSRC1	84722	broad.mit.edu	37	1	109824269	109824269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:109824269G>C	ENST00000438534.2	-	4	629	c.491C>G	c.(490-492)tCt>tGt	p.S164C	PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	164	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCTCTTTCCAGATGTAGCCCG	0.577000													18	84					0	0	0.007413	0	0
CCDC151	115948	broad.mit.edu	37	19	11532486	11532486	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:11532486G>A	ENST00000356392.4	-	11	1536	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	CCDC151_ENST00000591179.1_Silent_p.F423F|CCDC151_ENST00000545100.1_Silent_p.F429F|CCDC151_ENST00000586836.1_Silent_p.F292F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	483										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTTCCCGCGAAGCGGCCGT	0.662000													11	65					0	0	0.013537	0	0
ZWINT	11130	broad.mit.edu	37	10	58118574	58118574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:58118574C>G	ENST00000373944.3	-	6	653	c.615G>C	c.(613-615)aaG>aaC	p.K205N	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000361148.6_Intron			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						ACCTCTGCAGCTTGTCCCGCT	0.517000													20	138					0	0	0.012319	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654584	46654584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654584C>T	ENST00000253255.5	-	1	4635	c.4636G>A	c.(4636-4638)Gat>Aat	p.D1546N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1546					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCCTGATCATCTTCTATGTTG	0.483000													33	233					0	0	0.003755	0	0
ANKHD1	54882	broad.mit.edu	37	5	139885401	139885401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:139885401G>C	ENST00000297183.6	+	18	3479	c.3355G>C	c.(3355-3357)Gaa>Caa	p.E1119Q	ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1119Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTCTGAACGAACTAA	0.393000													17	149					0	0	0.008871	0	0
MUC7	4589	broad.mit.edu	37	4	71346858	71346858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:71346858C>A	ENST00000413702.1	+	4	685	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	MUC7_ENST00000304887.5_Missense_Mutation_p.P133T|MUC7_ENST00000456088.1_Missense_Mutation_p.P133T|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	133	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GACTTTTCTTCCCCAGAATGC	0.448000													13	106					4.3838e-07	8.08198e-07	0.001855	1	0
NEK3	4752	broad.mit.edu	37	13	52709904	52709904	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:52709904G>C	ENST00000400357.2	-	12	2512	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V|NEK3_ENST00000452082.2_Missense_Mutation_p.L428V			P51956	NEK3_HUMAN	NIMA-related kinase 3	424					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378000													7	39					0	0	0.001984	0	0
SAFB	6294	broad.mit.edu	37	19	5667066	5667066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:5667066G>A	ENST00000292123.5	+	18	2451	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	SAFB_ENST00000592224.1_Missense_Mutation_p.E781K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000538656.1_Missense_Mutation_p.E624K|SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	782	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCATTACCCAGAACGCCATGG	0.607000													14	113					0	0	0.002450	0	0
FGD6	55785	broad.mit.edu	37	12	95603436	95603436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:95603436G>A	ENST00000343958.4	-	2	1847	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	542					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAAATGCTGAAGGTGATTT	0.423000													10	89					0	0	0.006214	0	0
ZNF782	158431	broad.mit.edu	37	9	99581236	99581236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:99581236G>A	ENST00000481138.1	-	6	1730	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGAACCTTCTGATGTACACTG	0.418000													31	200					0	0	0.010818	0	0
IPO13	9670	broad.mit.edu	37	1	44424510	44424510	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:44424510T>C	ENST00000372343.3	+	11	2639	c.1977T>C	c.(1975-1977)gaT>gaC	p.D659D		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	659					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGAGGATGATCATGAAGGCC	0.562000													11	78					0	0	0.010729	0	0
FAM111B	374393	broad.mit.edu	37	11	58891901	58891901	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:58891901C>T	ENST00000343597.3	+	4	522	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	FAM111B_ENST00000529618.1_Silent_p.L81L|FAM111B_ENST00000411426.1_Silent_p.L81L	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	111							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTACTCAGCCCTGAGTGCTAA	0.343000													9	48					0	0	0.004482	0	0
CRY1	1407	broad.mit.edu	37	12	107415889	107415889	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:107415889T>C	ENST00000008527.5	-	2	1107	c.240A>G	c.(238-240)ccA>ccG	p.P80P		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	80	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACACATCTGCTGGTTGTCCAC	0.323000													22	127					0	0	0.006320	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292787	102292787	+	RNA	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:102292787G>C	ENST00000561463.1	+	0	833																											CTGCTTCTCAGAGCTGCTGTC	0.602000													5	22					0	0	0.001984	0	0
CPSF7	79869	broad.mit.edu	37	11	61196678	61196678	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61196678T>C	ENST00000340437.4	-	2	239	c.159A>G	c.(157-159)atA>atG	p.I53M	CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M|CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10M	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CGTCAGCATATATATCAATCA	0.483000													30	162					0	0	0.013726	0	0
HUWE1	10075	broad.mit.edu	37	X	53617986	53617986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53617986G>A	ENST00000342160.3	-	33	4526	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1357					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGATTGGAGGAGGGTGGGTT	0.488000													4	20					0	0	0.009096	0	0
C1orf127	148345	broad.mit.edu	37	1	11017770	11017770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:11017770G>A	ENST00000377004.4	-	7	595	c.596C>T	c.(595-597)tCt>tTt	p.S199F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S50F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	50										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCTTCAAGAGAAGCCACCAG	0.577000													13	106					0	0	0.013537	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065144	13065144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:13065144C>G	ENST00000316939.1	-	2	570	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627000													17	130					0	0	0.006122	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357721	149357721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:149357721G>T	ENST00000286298.4	+	2	774	c.506G>T	c.(505-507)tGc>tTc	p.C169F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	169						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.C169F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTACTGTGCCTTATGATT	0.448000													18	96					3.41278e-10	6.50771e-10	0.004990	1	0
ACVRL1	94	broad.mit.edu	37	12	52309043	52309043	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:52309043G>A	ENST00000550683.1	+	6	950	c.849G>A	c.(847-849)tcG>tcA	p.S283S	ACVRL1_ENST00000419526.2_Silent_p.S95S|ACVRL1_ENST00000388922.4_Silent_p.S269S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	269	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGCAACTCGAGCACGCAGC	0.612000													9	68					0	0	0.013537	0	0
MAS1L	116511	broad.mit.edu	37	6	29454874	29454874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:29454874G>A	ENST00000377127.3	-	1	864	c.806C>T	c.(805-807)tCg>tTg	p.S269L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	269						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.S269L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CATGGGGGCCGAGATCTGCAC	0.512000													7	37					0	0	0.001984	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163924	141163924	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:141163924G>T	ENST00000514251.1	+	4	2973	c.2694G>T	c.(2692-2694)gaG>gaT	p.E898D	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	898					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTGCATGGAGATGAGTGAAG	0.522000													16	49					6.72482e-11	1.28865e-10	0.003163	1	0
RABEPK	10244	broad.mit.edu	37	9	127990196	127990196	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:127990196G>T	ENST00000373538.3	+	6	844	c.534G>T	c.(532-534)ctG>ctT	p.L178L	RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.L178L	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	178					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TAGACACTCTGACCTGGTCAC	0.483000													10	68					9.70103e-10	1.84083e-09	0.008291	1	0
SUN3	256979	broad.mit.edu	37	7	48035654	48035654	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:48035654C>G	ENST00000453192.2	-	8	874	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E223Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	223	SUN.					integral to membrane		p.E223K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGCATTTCATGATTTAGG	0.284000													11	73					0	0	0.013537	0	0
DNAH11	8701	broad.mit.edu	37	7	21775391	21775391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:21775391C>T	ENST00000328843.6	+	47	7626	c.7595C>T	c.(7594-7596)gCa>gTa	p.A2532V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2525V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2532	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACACATTGGCAAGTCTCTCT	0.413000									Kartagener syndrome				9	88					0	0	0.004482	0	0
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977	by1000genomes	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:52623229G>C	ENST00000356770.4	-	17	2728	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								13	110					0	0	0.001855	0	0
AGTR1	185	broad.mit.edu	37	3	148459824	148459824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:148459824G>A	ENST00000542281.1	+	4	1448	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M334I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	334					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAACAAAAATGAGCACGCTTT	0.403000													7	44					0	0	0.001984	0	0
NCR1	9437	broad.mit.edu	37	19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:55421380G>A	ENST00000594765.1	+	5	662	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438000													23	169					0	0	0.002780	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	52					0	0	0.000602	0	0
PSMF1	9491	broad.mit.edu	37	20	1115772	1115772	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:1115772A>G	ENST00000335877.6	+	4	550	c.374A>G	c.(373-375)aAg>aGg	p.K125R	PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						AGGACCTACAAGAACAGTGAG	0.552000													7	55					0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045932	42045932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:42045932G>A	ENST00000372584.1	-	3	5551	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGGGGAGGAATTTCCTTT	0.557000													6	57					0	0	0.001984	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974913	32974913	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:32974913G>A	ENST00000229829.5	-	4	768	c.693C>T	c.(691-693)ggC>ggT	p.G231G	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	231					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACGAGGAAGCCCACCAGGC	0.627000													17	107					0	0	0.004007	0	0
HCN4	10021	broad.mit.edu	37	15	73614875	73614875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:73614875C>T	ENST00000261917.3	-	8	4552	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1187					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCCAGGTTCCCTCTGGGGT	0.582000													5	15					0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32632974	32632974	+	Silent	SNP	G	G	A	rs146604611	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:32632974G>A	ENST00000242310.4	-	1	2693	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	868					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAAGTCAGCGCAGAGCTTTA	0.468000													20	154					0	0	0.008871	0	0
SEPT3	55964	broad.mit.edu	37	22	42390724	42390724	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:42390724C>T	ENST00000396425.3	+	10	1148	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Silent_p.S275S|SEPT3_ENST00000396426.3_Intron|SEPT3_ENST00000406029.1_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTCCGGTGAGCGTGGACACAG	0.542000													11	66					0	0	0.008291	0	0
EPN1	29924	broad.mit.edu	37	19	56204351	56204351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:56204351C>A	ENST00000411543.2	+	9	2017	c.1470C>A	c.(1468-1470)ttC>ttA	p.F490L	EPN1_ENST00000085079.7_Missense_Mutation_p.F378L|EPN1_ENST00000270460.6_Missense_Mutation_p.F404L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	404	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCGACGAGTTCTCTGACTTTG	0.701000													13	117					4.3838e-07	8.08198e-07	0.001855	1	0
RUSC1	23623	broad.mit.edu	37	1	155296505	155296505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:155296505G>C	ENST00000368352.5	+	8	2147	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	666	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTGCTCTTTGAGCACCACCA	0.642000													22	89					0	0	0.002780	0	0
HTR3C	170572	broad.mit.edu	37	3	183778119	183778119	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:183778119C>G	ENST00000318351.1	+	9	1357	c.1323C>G	c.(1321-1323)gtC>gtG	p.V441V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	441						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCCTTACTGTCATTGTCCTCT	0.557000													24	183					0	0	0.003954	0	0
GCNT4	51301	broad.mit.edu	37	5	74325189	74325189	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:74325189T>C	ENST00000322348.4	-	1	1535	c.674A>G	c.(673-675)aAc>aGc	p.N225S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	225					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CCCACACAAGTTGATAACATA	0.418000													4	78					0	0	0.009096	0	0
KIAA1109	84162	broad.mit.edu	37	4	123230492	123230492	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:123230492A>G	ENST00000264501.4	+	59	10498	c.10125A>G	c.(10123-10125)gcA>gcG	p.A3375A	KIAA1109_ENST00000455637.1_Silent_p.A3375A|KIAA1109_ENST00000388738.3_Silent_p.A3375A			Q2LD37	K1109_HUMAN	KIAA1109	3375					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCACTGCATGCTCTTCAG	0.378000													11	62					0	0	0.010729	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191746	54191746	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:54191746A>G	ENST00000408494.1	+	0	12					NR_031573.1																						TCAAGCTATGAGTCTACAAAG	0.413000													3	110					0	0	0.004672	0	0
PDS5A	23244	broad.mit.edu	37	4	39910122	39910122	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:39910122T>C	ENST00000303538.8	-	11	1665	c.1126A>G	c.(1126-1128)Att>Gtt	p.I376V	PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	376					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCATGACGAATAGCTTCTTCT	0.353000													16	100					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653935	46653935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653935C>T	ENST00000253255.5	-	1	5284	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1762					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTTAGCCATCTATAGATGTC	0.423000													17	115					0	0	0.004990	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654251	46654251	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654251C>T	ENST00000253255.5	-	1	4968	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1657					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGATCTCAGTATATTTA	0.438000													10	80					0	0	0.008291	0	0
ALOX12B	242	broad.mit.edu	37	17	7984278	7984278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7984278G>A	ENST00000319144.4	-	4	711	c.451C>T	c.(451-453)Cct>Tct	p.P151S	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	151	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642000										Multiple Myeloma(8;0.094)			6	66					0	0	0.003080	0	0
USP6	9098	broad.mit.edu	37	17	5048731	5048731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:5048731C>T	ENST00000574788.1	+	27	4254	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	675					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAAATAGATCAATTATTGTG	0.358000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								9	62					0	0	0.008291	0	0
SCN1A	6323	broad.mit.edu	37	2	166854606	166854606	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:166854606A>G	ENST00000423058.2	-	23	4435	c.4418T>C	c.(4417-4419)tTc>tCc	p.F1473S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1473S|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1473						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAAGGTGAAGAAGGACCC	0.343000													4	39					0	0	0.009096	0	0
CCDC47	57003	broad.mit.edu	37	17	61838631	61838631	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:61838631A>C	ENST00000225726.5	-	5	1010	c.628T>G	c.(628-630)Tct>Gct	p.S210A	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTCGACCAGAACACCACAGG	0.433000													17	96					0	0	0.004990	0	0
ABL2	27	broad.mit.edu	37	1	179077353	179077353	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:179077353C>G	ENST00000502732.1	-	12	3252	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1017	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTGTGTTTCTGATGTGGAC	0.587000			T	ETV6	AML								19	119					0	0	0.008871	0	0
CCT2	10576	broad.mit.edu	37	12	69987352	69987352	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:69987352A>T	ENST00000543146.2	+	10	1282	c.800A>T	c.(799-801)cAt>cTt	p.H267L	CCT2_ENST00000544368.2_Missense_Mutation_p.H314L|CCT2_ENST00000299300.6_Missense_Mutation_p.H314L	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	314					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATTGAGCATGCAGATTTT	0.358000													9	45					0	0	0.008291	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	118					0	0	0.000602	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603492	19603492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:19603492C>G	ENST00000404158.1	+	6	923	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.Q169E			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	169					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGGCAGAGTCAAATACAAAA	0.517000													5	54					0	0	0.000602	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608358	31608358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:31608358C>A	ENST00000170150.3	+	13	1354	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	387						extracellular region	lipid binding										GGATGTCCAGCTCACGGTGGC	0.617000													9	93					0.000673444	0.00119621	0.008291	1	0
NBPF3	84224	broad.mit.edu	37	1	21800026	21800026	+	Silent	SNP	C	C	T	rs138236134		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:21800026C>T	ENST00000318220.6	+	10	1768	c.720C>T	c.(718-720)ctC>ctT	p.L240L	NBPF3_ENST00000318249.5_Silent_p.L296L|NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000342104.5_Silent_p.L296L			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	296	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCAACTCTCATTGACTCAT	0.463000													31	222					0	0	0.009535	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			16	50					0	0	0.004990	0	0
HUWE1	10075	broad.mit.edu	37	X	53619384	53619384	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53619384G>C	ENST00000342160.3	-	32	4403	c.3946C>G	c.(3946-3948)Caa>Gaa	p.Q1316E	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E|HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1316	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTTGACTTGAGGTTCCCGG	0.537000													18	52					0	0	0.010504	0	0
MAST1	22983	broad.mit.edu	37	19	12951862	12951862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:12951862C>G	ENST00000251472.4	+	3	269	c.230C>G	c.(229-231)tCg>tGg	p.S77W	MAST1_ENST00000591495.1_Missense_Mutation_p.S73W	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	77					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACTTCTCGTTTGCCTCC	0.632000													17	77					0	0	0.006122	0	0
TMEM177	80775	broad.mit.edu	37	2	120439337	120439337	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:120439337G>C	ENST00000424086.1	+	2	1381	c.908G>C	c.(907-909)aGg>aCg	p.R303T	TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	303						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGATGTGGAGGGGGATGCTC	0.577000													9	80					0	0	0.008291	0	0
CCDC132	55610	broad.mit.edu	37	7	92987685	92987685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:92987685C>G	ENST00000544910.1	+	29	2962	c.2742C>G	c.(2740-2742)atC>atG	p.I914M	CCDC132_ENST00000305866.5_Missense_Mutation_p.I944M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383000													12	77					0	0	0.010729	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653078	46653078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653078G>C	ENST00000253255.5	-	1	6141	c.6142C>G	c.(6142-6144)Cac>Gac	p.H2048D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2048					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTCATAATGTGATCTACCTGA	0.438000													6	59					0	0	0.003080	0	0
CEP152	22995	broad.mit.edu	37	15	49054667	49054667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:49054667T>C	ENST00000380950.2	-	18	2670	c.2483A>G	c.(2482-2484)aAg>aGg	p.K828R	CEP152_ENST00000399334.3_Missense_Mutation_p.K828R|CEP152_ENST00000325747.5_Missense_Mutation_p.K735R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	828					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)		GGCTATGTCCTTCTCTTGTTC	0.373000													40	70					0	0	0.006999	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652485	46652485	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46652485C>T	ENST00000253255.5	-	1	6734	c.6735G>A	c.(6733-6735)ggG>ggA	p.G2245G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2245					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTTTCTTCCCGTTGATGT	0.473000													10	94					0	0	0.010729	0	0
MYH1	4619	broad.mit.edu	37	17	10408257	10408257	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:10408257G>T	ENST00000226207.5	-	22	2655	c.2561C>A	c.(2560-2562)gCc>gAc	p.A854D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	854						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATGTTGGCCATCTCCTT	0.443000													18	98					0.000175454	0.00031598	0.010504	1	0
CTAGE1	64693	broad.mit.edu	37	18	19995815	19995815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr18:19995815C>T	ENST00000391403.2	-	1	2063	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	654						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CCAGTTGCTTCATTTTCAGCG	0.453000													24	244					0	0	0.003954	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654120	46654120	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654120C>T	ENST00000253255.5	-	1	5099	c.5100G>A	c.(5098-5100)aaG>aaA	p.K1700K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1700					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATCCTCTTCTTTCTTTTGA	0.418000													7	82					0	0	0.003080	0	0
RAG1	5896	broad.mit.edu	37	11	36597850	36597850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:36597850C>G	ENST00000299440.5	+	2	3108	c.2996C>G	c.(2995-2997)tCc>tGc	p.S999C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	999					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGTACACCTCCAAATACCTC	0.448000									Familial Hemophagocytic Lymphohistiocytosis				14	73					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	90136535	90136535	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:90136535G>C	ENST00000405460.2	+	78	16848	c.16752G>C	c.(16750-16752)gaG>gaC	p.E5584D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5584					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACGCCAGAGACAGGATCTT	0.428000													28	190					0	0	0.008361	0	0
NAALADL1	10004	broad.mit.edu	37	11	64813736	64813736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:64813736C>T	ENST00000358658.3	-	15	1807	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	594					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAGTGTCTCACTGTAGTCA	0.612000													12	50					0	0	0.013537	0	0
PIGB	9488	broad.mit.edu	37	15	55622047	55622047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:55622047G>A	ENST00000164305.5	+	5	939	c.648G>A	c.(646-648)atG>atA	p.M216I	PIGB_ENST00000539642.1_Missense_Mutation_p.M21I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	216					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CAAAGTCTATGAACAGGTAAG	0.308000													23	53					0	0	0.012319	0	0
RAC3	5881	broad.mit.edu	37	17	79991361	79991361	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991361C>T	ENST00000306897.4	+	5	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	112					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCATCCTCCTGGTGGGCAC	0.672000													4	47					0	0	0.001168	0	0
ZAN	7455	broad.mit.edu	37	7	100345255	100345255	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:100345255A>G	ENST00000542585.1	+	0	1162				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_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)			CAGCCGTGGGACGGATACAGG	0.527000													3	58					0	0	0.009096	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646718	127646718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:127646718G>A	ENST00000405109.1	+	3	1649	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	394										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGACAGATGAAAATTAAAA	0.393000													20	146					0	0	0.010504	0	0
TTC30A	92104	broad.mit.edu	37	2	178481760	178481760	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:178481760T>C	ENST00000355689.4	-	1	1934	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	557					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATAGTTTCCTTTGGCACAATA	0.383000													4	242					0	0	0.009096	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978631	148978631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:148978631G>A	ENST00000434415.1	+	6	1001	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	280					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCACAGTCTGAAGACGAGAT	0.627000													10	56					0	0	0.010729	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089160	43089160	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:43089160T>C	ENST00000359467.3	-	5	1352	c.1238A>G	c.(1237-1239)tAt>tGt	p.Y413C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	413						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATTACACTGATAGGGTTTCTC	0.423000													3	105					0	0	0.004672	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654948	46654948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654948C>T	ENST00000253255.5	-	1	4271	c.4272G>A	c.(4270-4272)atG>atA	p.M1424I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1424					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATTGATCTCATGTATTTCC	0.348000													8	60					0	0	0.003080	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463505	130463505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130463505G>C	ENST00000356763.3	-	2	1115	c.558C>G	c.(556-558)ttC>ttG	p.F186L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	186	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATGTGTCAAAGAAATAATTGA	0.408000													11	48					0	0	0.008291	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025612	16025612	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:16025612C>T	ENST00000326742.7	-	9	1210	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	CYP4F11_ENST00000248041.7_Silent_p.T403T|CYP4F11_ENST00000402119.3_Silent_p.T403T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	403					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAAAGTCCTGCGTGCAACATC	0.632000													19	106					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179440094	179440094	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:179440094C>G	ENST00000589042.1	-	326	70989	c.70765G>C	c.(70765-70767)Gaa>Caa	p.E23589Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN_ENST00000591111.1_Missense_Mutation_p.E21948Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21948	Fibronectin type-III 71.						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)			ACAACACATTCTAACCCTTTC	0.507000													11	67					0	0	0.010729	0	0
ELN	2006	broad.mit.edu	37	7	73466086	73466086	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:73466086G>C	ENST00000252034.7	+	16	1205	c.806G>C	c.(805-807)gGa>gCa	p.G269A	ELN_ENST00000380562.4_Missense_Mutation_p.G269A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A|ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	269	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ACAGGTGCTGGAGCAGCCGGA	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	0.000602	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654926	46654926	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654926C>T	ENST00000253255.5	-	1	4293	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1432					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.E1432*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACACTTTCAATTCCTATC	0.348000													8	61					0	0	0.003080	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138429966	138429966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:138429966G>C	ENST00000310018.2	-	14	1662	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	460					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACCCGTGTAGATGGAGAAGA	0.488000													9	88					0	0	0.004482	0	0
CTSS	1520	broad.mit.edu	37	1	150722557	150722557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:150722557C>T	ENST00000368985.3	-	6	978	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CTSS_ENST00000448301.2_Missense_Mutation_p.E190K|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	240					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCTTCTTTCAGGACA	0.393000													8	29					0	0	0.003080	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632584	19632584	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:19632584G>A	ENST00000235835.3	-	6	867	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	282					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.A282A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCATATGCGGCCTGCAGGG	0.632000													10	66					0	0	0.008291	0	0
ZNF7	7553	broad.mit.edu	37	8	146067676	146067676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:146067676C>G	ENST00000528372.1	+	5	1424	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299*			P17097	ZNF7_HUMAN	zinc finger protein 7	395					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CTAAAAGCCTCAGACAGTCCA	0.493000													7	79					0	0	0.001984	0	0
ZNF281	23528	broad.mit.edu	37	1	200376835	200376835	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200376835C>G	ENST00000294740.2	-	2	2123	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGGAGTATTCTTGCAACATA	0.403000													8	91					0	0	0.004482	0	0
MYLIP	29116	broad.mit.edu	37	6	16143386	16143386	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:16143386G>T	ENST00000349606.4	+	3	561	c.57G>T	c.(55-57)ctG>ctT	p.L19L	MYLIP_ENST00000356840.3_Silent_p.L200L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	200	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGCAGAAACTGCTCATTGGGG	0.433000													4	66					0.00024832	0.000445145	0.009096	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19702122	19702122	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:19702122T>A	ENST00000397821.3	-	6	835	c.545A>T	c.(544-546)gAg>gTg	p.E182V	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	182					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCCATCACTCTCGGAGCCTGT	0.537000													8	38					0	0	0.003080	0	0
RBM12B	389677	broad.mit.edu	37	8	94746869	94746869	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:94746869A>G	ENST00000399300.2	-	3	1983	c.1770T>C	c.(1768-1770)ccT>ccC	p.P590P	RBM12B_ENST00000517700.1_Silent_p.P590P|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	590							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGAAGGCCGCCTGA	0.617000													21	81					0	0	0.012319	0	0
DCHS2	54798	broad.mit.edu	37	4	155254167	155254167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:155254167C>T	ENST00000357232.3	-	9	1695	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	566	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCAGCAGGGCTGCCTGAGGA	0.607000													9	84					0	0	0.004482	0	0
ADCY7	113	broad.mit.edu	37	16	50348223	50348223	+	Silent	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:50348223C>A	ENST00000394697.2	+	24	3217	c.2877C>A	c.(2875-2877)gcC>gcA	p.A959A	ADCY7_ENST00000254235.3_Silent_p.A959A			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCAGCATGCCCACATTGGTG	0.622000													5	37					0.00116845	0.00205668	0.001168	1	0
NBPF9	400818	broad.mit.edu	37	1	144816648	144816648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:144816648G>C	ENST00000440491.2	+	5	781	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CTCTCATGTTGAACGGGAAGA	0.458000													39	275					0	0	0.008740	0	0
ALMS1	7840	broad.mit.edu	37	2	73828456	73828456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:73828456G>A	ENST00000264448.6	+	19	12115	c.12004G>A	c.(12004-12006)Gag>Aag	p.E4002K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4002					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCACTGCGGGAGCAGAACTG	0.582000													18	106					0	0	0.006122	0	0
UVSSA	57654	broad.mit.edu	37	4	1360143	1360143	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:1360143C>T	ENST00000389851.4	+	8	1659	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.D404D|UVSSA_ENST00000507531.1_Silent_p.D404D	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	404																	AAGATGAGGACGATGAGGACT	0.587000													20	163					0	0	0.002780	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597525	62597525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:62597525G>A	ENST00000450537.1	-	5	1063	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGTGGCACGAGGTGCTTTG	0.582000													9	62					0	0	0.006214	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152892	101152892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:101152892A>T	ENST00000372782.3	-	5	501	c.454T>A	c.(454-456)Tta>Ata	p.L152I	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	449						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTCCATTAATTGCTTCAGT	0.403000													10	27					0	0	0.008291	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883604	58883604	+	RNA	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:58883604C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gcagctgcctctgaggcctca	0.582000													7	65					0	0	0.001984	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	9					0	0	0.003080	0	0
ZNF91	7644	broad.mit.edu	37	19	23544684	23544684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:23544684G>T	ENST00000300619.7	-	4	1302	c.1097C>A	c.(1096-1098)gCt>gAt	p.A366D	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	366						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)				CTTATGATTAGCAAGGGTTGA	0.348000													11	42					6.40141e-05	0.000115821	0.010729	1	0
ZIC5	85416	broad.mit.edu	37	13	100617654	100617654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:100617654C>T	ENST00000267294.4	-	2	2202	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	657					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCACAACTTCAGGGTTCCCG	0.478000													13	69					0	0	0.013537	0	0
FCRL4	83417	broad.mit.edu	37	1	157556033	157556033	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:157556033C>A	ENST00000271532.1	-	6	1195	c.1060G>T	c.(1060-1062)Gca>Tca	p.A354S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	354	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TATCCCCCTGCATGGCTCTGT	0.537000													5	106					3.59834e-05	6.57161e-05	0.001168	1	0
DLG5	9231	broad.mit.edu	37	10	79570931	79570931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:79570931C>G	ENST00000372391.2	-	23	4389	c.4384G>C	c.(4384-4386)Gag>Cag	p.E1462Q	DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1462					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATGGATGCTCCGGGGTGGTG	0.637000													14	79					0	0	0.004007	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132920	64132920	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:64132920G>C	ENST00000295902.6	-	7	1831	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	416						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGAGCTGCAGAGGGCTCTGG	0.612000													21	93					0	0	0.008871	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653873	46653873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653873C>T	ENST00000253255.5	-	1	5346	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1783					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGAGCTTTCAGGAAGAAAT	0.423000													19	172					0	0	0.010504	0	0
BMPER	168667	broad.mit.edu	37	7	34125426	34125426	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:34125426C>G	ENST00000297161.2	+	14	1841	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	BMPER_ENST00000426693.1_Silent_p.L489L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGCATCTCAAGGGCAAGC	0.433000													9	43					0	0	0.004482	0	0
ETS1	2113	broad.mit.edu	37	11	128359290	128359290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:128359290T>C	ENST00000392668.3	-	5	498	c.430A>G	c.(430-432)Atg>Gtg	p.M144V	ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M100V|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V|ETS1_ENST00000526145.1_Missense_Mutation_p.M100V	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	100					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCTCCATTCATACAGAACTTC	0.532000													18	139					0	0	0.006122	0	0
POT1	25913	broad.mit.edu	37	7	124503479	124503479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124503479C>A	ENST00000357628.3	-	8	1069	c.471G>T	c.(469-471)caG>caT	p.Q157H	POT1_ENST00000393329.1_Missense_Mutation_p.Q26H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	157					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACTGCATTGGCTGAACATCAC	0.408000													12	77					0.00136819	0.00239742	0.013537	1	0
UGT1A6	54578	broad.mit.edu	37	2	234602064	234602064	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:234602064C>G	ENST00000305139.6	+	1	553	c.414C>G	c.(412-414)ttC>ttG	p.F138L	UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCCTGAACTTCTTTAAGGAGA	0.488000													10	73					0	0	0.008291	0	0
MOV10	4343	broad.mit.edu	37	1	113238852	113238852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:113238852C>T	ENST00000369644.1	+	13	2723	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.T621I|MOV10_ENST00000369645.1_Missense_Mutation_p.T621I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	621					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTCTTAATTACCACCCTCATC	0.532000													5	52					0	0	0.001984	0	0
SLC25A25	114789	broad.mit.edu	37	9	130863479	130863479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:130863479G>C	ENST00000373066.5	+	2	731	c.324G>C	c.(322-324)aaG>aaC	p.K108N	SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N|SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N|SLC25A25_ENST00000373064.5_Missense_Mutation_p.K88N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	88	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGTGTTTAAGAGTTTGGACA	0.512000													13	130					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654124	46654124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654124C>T	ENST00000253255.5	-	1	5095	c.5096G>A	c.(5095-5097)aGa>aAa	p.R1699K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1699					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCTCTTCTTTCTTTTGAATAT	0.418000													7	87					0	0	0.003080	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452968	130452968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130452968G>C	ENST00000356763.3	-	4	1431	c.874C>G	c.(874-876)Cag>Gag	p.Q292E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAATCATCTGAGTTACCTAT	0.348000													9	65					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64564717	64564717	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:64564717A>G	ENST00000357395.3	+	63	12458	c.1314A>G	c.(1312-1314)aaA>aaG	p.K438K	SYNE2_ENST00000394768.2_Silent_p.K438K|SYNE2_ENST00000358025.3_Silent_p.K4053K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.K687K|SYNE2_ENST00000344113.4_Silent_p.K4053K|SYNE2_ENST00000554584.1_Silent_p.K4086K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4053					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGAGAAAAGAAGACCTGT	0.448000													11	81					0	0	0.008291	0	0
SPINT2	10653	broad.mit.edu	37	19	38781203	38781203	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:38781203C>G	ENST00000301244.7	+	6	1015	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	CTB-102L5.4_ENST00000591889.1_Silent_p.P71P|SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	194					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCTGCCCCTTGGCTCAAA	0.612000													4	25					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40364331	40364331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40364331C>T	ENST00000221347.6	-	31	14318	c.14311G>A	c.(14311-14313)Gaa>Aaa	p.E4771K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4771	TIL 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAGCCTTCACGGCAGGCC	0.652000													10	71					0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25701358	25701358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:25701358G>A	ENST00000376351.3	+	4	1650	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	431						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATGCTGCTCGACTTCGTTAG	0.488000													8	175					0	0	0.006214	0	0
SEC31B	25956	broad.mit.edu	37	10	102249138	102249138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:102249138C>T	ENST00000370345.3	-	23	3139	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1014	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCTGGGGGCATAAATGTCT	0.527000													9	43					0	0	0.010729	0	0
PDXDC1	23042	broad.mit.edu	37	16	15130131	15130131	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:15130131G>A	ENST00000396410.4	+	23	2463	c.2366G>A	c.(2365-2367)tGa>tAa	p.*789*	PDXDC1_ENST00000563679.1_Silent_p.*807*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000450288.2_Silent_p.*761*|PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000325823.7_Silent_p.*774*|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	0					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCTTAAGATGAGACTCATTG	0.478000													11	85					0	0	0.008291	0	0
ZNF610	162963	broad.mit.edu	37	19	52852486	52852486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:52852486C>G	ENST00000601151.1	+	3	513	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000403906.3_Missense_Mutation_p.Q21E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCTCTTCCTCAGGTAAAGTG	0.448000													6	34					0	0	0.003080	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134182	119134182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:119134182G>A	ENST00000264245.4	+	12	3938	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCAGGTCTCTGAGCCAGGAGA	0.532000													6	74					0	0	0.001168	0	0
HDAC7	51564	broad.mit.edu	37	12	48188581	48188581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48188581C>T	ENST00000080059.7	-	12	1419	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000427332.2_Missense_Mutation_p.E435K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	435	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCTCTGGCCTCAGGCTGCCCA	0.657000													11	68					0	0	0.010729	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620188	144620188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:144620188C>T	ENST00000262577.5	-	2	1380	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	450					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGCTGCGTCTCCGGATGAT	0.617000													9	85					0	0	0.006214	0	0
GRID1	2894	broad.mit.edu	37	10	87966143	87966143	+	Silent	SNP	G	G	T	rs61744114		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:87966143G>T	ENST00000327946.7	-	3	583	c.498C>A	c.(496-498)gtC>gtA	p.V166V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	166						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTAGAACATGACGAACTTCT	0.622000										Multiple Myeloma(13;0.14)			11	39					3.03607e-14	5.84669e-14	0.013537	1	0
KRT39	390792	broad.mit.edu	37	17	39122956	39122956	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:39122956G>A	ENST00000355612.2	-	1	188	c.153C>T	c.(151-153)ctC>ctT	p.L51L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	51	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGGGAATTCTGAGAACGTGGC	0.498000													41	243					0	0	0.006999	0	0
AKAP10	11216	broad.mit.edu	37	17	19850729	19850729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:19850729C>T	ENST00000225737.6	-	5	1124	c.967G>A	c.(967-969)Gac>Aac	p.D323N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	323	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CCTATGATGTCATTTCTCATT	0.323000													12	98					0	0	0.010729	0	0
POT1	25913	broad.mit.edu	37	7	124503478	124503478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124503478G>A	ENST00000357628.3	-	8	1070	c.472C>T	c.(472-474)Cca>Tca	p.P158S	POT1_ENST00000393329.1_Missense_Mutation_p.P27S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	158					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TACTGCATTGGCTGAACATCA	0.408000													11	79					0	0	0.010729	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964913	88964913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:88964913G>A	ENST00000333190.4	+	4	3226	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	873						intracellular	zinc ion binding	p.E873*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAAATCAAGAGTCTTTGGG	0.428000										HNSCC(36;0.09)			8	60					0	0	0.003080	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36927505	36927505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:36927505G>C	ENST00000269554.3	-	8	1308	c.828C>G	c.(826-828)atC>atG	p.I276M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	276	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTAGTCCATGATCTTCAGCT	0.562000													8	39					0	0	0.003080	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434561	3434561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:3434561C>T	ENST00000396852.4	-	6	1439	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D378N|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D166N|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.D89N|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.D378N|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D89N|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.D166N|LA16c-306E5.2_ENST00000575785.1_RNA					zinc finger and SCAN domain containing 32																		ACAGTGCCATCTTCTACCTCC	0.527000													18	129					0	0	0.006122	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431887	67431887	+	Missense_Mutation	SNP	C	C	T	rs147016371	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:67431887C>T	ENST00000349015.3	-	8	1291	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	285					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTGGAGAAGGCGTACAGGGCC	0.637000													15	124					0	0	0.004007	0	0
GPR37	2861	broad.mit.edu	37	7	124404013	124404013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124404013T>C	ENST00000303921.2	-	1	1668	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	340						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTACCTCTATATAGGGCACG	0.498000													34	211					0	0	0.004878	0	0
ARSD	414	broad.mit.edu	37	X	2825395	2825395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:2825395T>C	ENST00000381154.1	-	10	1774	c.1699A>G	c.(1699-1701)Atc>Gtc	p.I567V		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	567						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				TTCCACAGGATGTTGCTCATG	0.617000													6	27					0	0	0.001168	0	0
PSD4	23550	broad.mit.edu	37	2	113943603	113943603	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:113943603G>C	ENST00000245796.6	+	5	1594	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	PSD4_ENST00000441564.2_Missense_Mutation_p.E439Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	467					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGTCCCAGGAGGGCAGCCC	0.617000													8	59					0	0	0.003080	0	0
BZRAP1	9256	broad.mit.edu	37	17	56397485	56397485	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:56397485G>T	ENST00000355701.3	-	12	2349	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	BZRAP1_ENST00000268893.6_Silent_p.T433T|BZRAP1_ENST00000343736.4_Silent_p.T493T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	493						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAATCCAAGGTAGACTGTT	0.592000													9	47					3.09899e-07	5.76797e-07	0.004482	1	0
AP3D1	8943	broad.mit.edu	37	19	2110168	2110168	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2110168C>T	ENST00000355272.6	-	28	3437	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTGAGCTTCTGCGCCATGA	0.642000													9	39					0	0	0.006214	0	0
FLAD1	80308	broad.mit.edu	37	1	154956218	154956218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:154956218G>C	ENST00000368433.1	+	1	391	c.48G>C	c.(46-48)agG>agC	p.R16S	FLAD1_ENST00000292180.3_Missense_Mutation_p.R16S|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	16					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAACAAAGGAGTCGCTTGT	0.478000													4	75					0	0	0.009096	0	0
GFI1B	8328	broad.mit.edu	37	9	135862790	135862790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:135862790G>C	ENST00000339463.3	+	7	1041	c.222G>C	c.(220-222)agG>agC	p.R74S	GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S|GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	74					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACTTGGCCAGGATGGCCCCGG	0.617000													10	35					0	0	0.013537	0	0
CWC22	57703	broad.mit.edu	37	2	180838488	180838488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:180838488G>A	ENST00000410053.3	-	7	922	c.623C>T	c.(622-624)tCt>tTt	p.S208F	CWC22_ENST00000295749.6_Missense_Mutation_p.S208F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	208	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GAAGATTGGAGAAGCACTCTG	0.328000													7	50					0	0	0.004482	0	0
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502000													7	53					0	0	0.001984	0	0
RAC3	5881	broad.mit.edu	37	17	79991599	79991599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991599C>G	ENST00000306897.4	+	6	611	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	158					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAGTGCTCAGCCCTGACC	0.657000													9	43					0	0	0.004482	0	0
IGHA1	3493	broad.mit.edu	37	14	106174257	106174257	+	RNA	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:106174257C>G	ENST00000390547.2	-	0	531																											CCACAGAGGTCACGCTCAGGT	0.617000													4	24					0	0	0.009096	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													3	83					0	0	0.009096	0	0
ADCY6	112	broad.mit.edu	37	12	49165584	49165584	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:49165584T>C	ENST00000307885.4	-	18	3654	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S	ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S|ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	987					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCAGAGAAGTTGGCAATGGA	0.537000													9	56					0	0	0.004482	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654045	46654045	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654045C>T	ENST00000253255.5	-	1	5174	c.5175G>A	c.(5173-5175)ttG>ttA	p.L1725L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1725					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGATAAGGATCAACAGAAGGG	0.383000													8	52					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103455092	103455092	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:103455092C>G	ENST00000358392.2	-	29	2729	c.2412G>C	c.(2410-2412)atG>atC	p.M804I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	792	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTAGACCCATGTCACCTT	0.289000													4	55					0	0	0.000602	0	0
KANK1	23189	broad.mit.edu	37	9	711776	711776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:711776G>A	ENST00000382303.1	+	7	1662	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q|KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	337					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGCTCTCCCGGGCCCGAAGA	0.537000													8	91					0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40366539	40366539	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40366539C>T	ENST00000221347.6	-	30	13702	c.13695G>A	c.(13693-13695)caG>caA	p.Q4565Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4565	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGAGTCCAGCTGGAAAGGCA	0.677000													10	60					0	0	0.008291	0	0
BCL6B	255877	broad.mit.edu	37	17	6930392	6930392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6930392G>C	ENST00000293805.5	+	8	1401	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	437						nucleus	zinc ion binding			skin(1)	1						CCACACCGGAGAGAAGCCTTA	0.632000													4	61					0	0	0.009096	0	0
PLAUR	5329	broad.mit.edu	37	19	44160641	44160641	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:44160641T>C	ENST00000221264.4	-	4	888	c.462A>G	c.(460-462)gaA>gaG	p.E154E	PLAUR_ENST00000601723.1_Silent_p.E154E|PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000340093.3_Silent_p.E154E	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	154	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTTCTTCACCTTCCTGGATCC	0.577000													23	119					0	0	0.003954	0	0
KIAA0753	9851	broad.mit.edu	37	17	6510503	6510503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6510503C>G	ENST00000361413.3	-	11	2275	c.1917G>C	c.(1915-1917)caG>caC	p.Q639H	KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	639						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATATTTACCTCTGTTTTTGCA	0.373000													20	167					0	0	0.012319	0	0
PROM2	150696	broad.mit.edu	37	2	95941259	95941259	+	Splice_Site	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:95941259G>T	ENST00000317620.9	+	2	427		c.e2+1		PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAATGAGGTGAGCAAGCT	0.602000													5	45					0.00116845	0.00205668	0.001168	1	0
DCDC2	51473	broad.mit.edu	37	6	24205370	24205370	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:24205370G>T	ENST00000378450.3	-	1	161	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	76	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAATCCAATTGTGACATCGTG	0.403000													8	143					1.06961e-07	2.00038e-07	0.003080	1	0
USH2A	7399	broad.mit.edu	37	1	215823958	215823958	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:215823958G>A	ENST00000366943.2	-	65	14705	c.14319C>T	c.(14317-14319)agC>agT	p.S4773S	USH2A_ENST00000307340.3_Silent_p.S4773S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4773	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGGGCGCTGCTGGAGAACA	0.493000										HNSCC(13;0.011)			15	88					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654407	46654407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654407C>G	ENST00000253255.5	-	1	4812	c.4813G>C	c.(4813-4815)Gac>Cac	p.D1605H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1605					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTGACTTGTCATAGCCGTAA	0.393000													6	53					0	0	0.001168	0	0
BRCA2	675	broad.mit.edu	37	13	32972546	32972546	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:32972546A>G	ENST00000544455.1	+	27	10123	c.9896A>G	c.(9895-9897)cAg>cGg	p.Q3299R	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3299					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGCATTTCAGCCACCAAGG	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	93					0	0	0.004672	0	0
C12orf54	121273	broad.mit.edu	37	12	48888620	48888620	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48888620G>A	ENST00000314014.2	+	8	413	c.282G>A	c.(280-282)ttG>ttA	p.L94L	C12orf54_ENST00000548364.1_Silent_p.L94L|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	94										endometrium(1)|large_intestine(4)	5						CCCCAAAGTTGAGAAGATTGC	0.483000													11	120					0	0	0.010729	0	0
NCOR2	9612	broad.mit.edu	37	12	124832798	124832798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:124832798C>T	ENST00000356219.3	-	30	4083	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1303K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1311					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGCCGTCTCATGGGGGGGT	0.622000											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0	0	0.010729	0	0
VPS13C	54832	broad.mit.edu	37	15	62256970	62256970	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:62256970G>C	ENST00000261517.5	-	31	3215	c.3142C>G	c.(3142-3144)Caa>Gaa	p.Q1048E	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1048					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTATGCTTTGATCATCAGAT	0.328000													22	57					0	0	0.014323	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37524339	37524339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:37524339G>C	ENST00000299824.1	+	4	642	c.453G>C	c.(451-453)aaG>aaC	p.K151N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	151					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCTGGTGAAGATCCTCGTTC	0.577000													5	25					0	0	0.000602	0	0
KCNB2	9312	broad.mit.edu	37	8	73849039	73849039	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCCGCCGACGATAATCACC	0.512000													13	111					0	0	0.001855	0	0
RSRC2	65117	broad.mit.edu	37	12	122991393	122991393	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:122991393C>T	ENST00000331738.7	-	9	1258	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	RSRC2_ENST00000354654.2_Silent_p.L323L|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	371										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAATACCCATCAATTTCCTAA	0.368000													12	116					0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55955577	55955577	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:55955577G>C	ENST00000409834.1	-	0	558				PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q391E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E			Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATGGACTTTGATTGTTTTCA	0.393000										HNSCC(58;0.16)			6	47					0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887265	12887265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:12887265C>T	ENST00000535591.1	-	3	787	c.592G>A	c.(592-594)Gtt>Att	p.V198I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	198										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGAGAGAACGAGCTTCTGA	0.517000													12	458					0	0	0.013537	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987709	223987709	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:223987709T>A	ENST00000391879.2	-	0	67				TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000498843.1_5'UTR			Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACGGACGCACTTTCTTCTCTT	0.428000													5	51					0	0	0.000602	0	0
CHEK2	11200	broad.mit.edu	37	22	29121060	29121060	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:29121060T>C	ENST00000382580.2	-	5	701	c.626A>G	c.(625-627)aAt>aGt	p.N209S	CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S|CHEK2_ENST00000405598.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	166					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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAAGGTTCCATTGCCACTGTG	0.353000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	76					0	0	0.001984	0	0
UNC13B	10497	broad.mit.edu	37	9	35231142	35231142	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:35231142G>A	ENST00000378495.3	+	3	300	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	26	C2 1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTGACCCTGAAAGTACAGA	0.393000													5	33					0	0	0.000602	0	0
ARID1B	57492	broad.mit.edu	37	6	157505453	157505453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:157505453A>G	ENST00000346085.5	+	13	3435	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y1132C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1132					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAAAAGCAGTATATTCAGTAC	0.517000													13	53					0	0	0.002450	0	0
CPT1B	1375	broad.mit.edu	37	22	51010730	51010730	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:51010730C>G	ENST00000360719.2	-	12	1497	c.1360G>C	c.(1360-1362)Gac>Cac	p.D454H	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	454					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGATTTGTCAAACCACCTG	0.507000													6	38					0	0	0.001168	0	0
TSC2	7249	broad.mit.edu	37	16	2098710	2098710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:2098710G>C	ENST00000219476.3	+	2	724	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	32	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGTCTGCAGAGGGTAAACA	0.502000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	89					0	0	0.004482	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													4	54					0	0	0.009096	0	0
GP5	2814	broad.mit.edu	37	3	194118031	194118031	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:194118031C>G	ENST00000401815.1	-	1	1052	c.981G>C	c.(979-981)ctG>ctC	p.L327L	GP5_ENST00000323007.3_Silent_p.L327L			P40197	GPV_HUMAN	glycoprotein V (platelet)	327					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGCGCGCTCAGCCGCGGGC	0.726000													3	22					0	0	0.009096	0	0
ZNF77	58492	broad.mit.edu	37	19	2934164	2934164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2934164C>G	ENST00000314531.4	-	4	1053	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTTTCTCTCCAGTGTGC	0.458000													9	91					0	0	0.004482	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61957758	61957758	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61957758T>C	ENST00000306238.3	+	1	71	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	1						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TAAGCCACCATGAGGCTGTCG	0.577000													3	57					0	0	0.004672	0	0
TMEM196	256130	broad.mit.edu	37	7	19765219	19765219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:19765219C>A	ENST00000405844.1	-	3	1072	c.377G>T	c.(376-378)tGt>tTt	p.C126F	TMEM196_ENST00000405764.3_Missense_Mutation_p.C126F|TMEM196_ENST00000422233.1_Missense_Mutation_p.C58F|TMEM196_ENST00000433641.1_Missense_Mutation_p.C58F|TMEM196_ENST00000493519.1_Missense_Mutation_p.C58F			Q5HYL7	TM196_HUMAN	transmembrane protein 196	132						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GGCTAGTCGACAAGTGAGCCA	0.498000													11	52					6.40141e-05	0.000115821	0.010729	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135862907	135862907	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:135862907G>A	ENST00000250617.6	-	1	1340	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	45	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAGTCTGTTGATCAGTTTGC	0.433000													9	114					0	0	0.006214	0	0
ITGAM	3684	broad.mit.edu	37	16	31282283	31282283	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:31282283C>G	ENST00000544665.3	+	6	507	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	ITGAM_ENST00000287497.8_Missense_Mutation_p.Q146E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	146					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGTGTCCTCAAGAGGATAG	0.453000													42	216					0	0	0.010771	0	0
SI	6476	broad.mit.edu	37	3	164776814	164776814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:164776814C>G	ENST00000264382.3	-	12	1397	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	445	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTTCCCCTCTCATAGGTTG	0.363000										HNSCC(35;0.089)			3	48					0	0	0.004672	0	0
MNDA	4332	broad.mit.edu	37	1	158817562	158817562	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:158817562T>C	ENST00000368141.4	+	6	1293	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	344	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACAGGATAATACAGGATCCA	0.378000													12	73					0	0	0.001368	0	0
BEND2	139105	broad.mit.edu	37	X	18192280	18192280	+	Silent	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:18192280A>C	ENST00000380033.4	-	12	1983	c.1851T>G	c.(1849-1851)tcT>tcG	p.S617S	BEND2_ENST00000380030.3_Silent_p.S526S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	617										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAAACATCCAAGAACAGCCTT	0.438000													25	58					0	0	0.003954	0	0
ZNF644	84146	broad.mit.edu	37	1	91404992	91404992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:91404992G>C	ENST00000370440.1	-	3	2136	c.1919C>G	c.(1918-1920)aCt>aGt	p.T640S	ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAATGTTTTAGTGCTATCACT	0.348000													3	112					0	0	0.004672	0	0
GPR3	2827	broad.mit.edu	37	1	27721255	27721255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:27721255C>T	ENST00000374024.3	+	2	1052	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	318					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTCCTCTTCCAAGATCCCC	0.527000													26	156					0	0	0.007291	0	0
STK33	65975	broad.mit.edu	37	11	8414087	8414087	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:8414087G>A	ENST00000447869.1	-	12	2433	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	STK33_ENST00000396673.1_Silent_p.G439G|STK33_ENST00000534493.1_Silent_p.G464G|STK33_ENST00000358872.3_Silent_p.G318G|STK33_ENST00000315204.1_Silent_p.G505G|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Silent_p.G505G			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAG	0.483000													34	201					0	0	0.004289	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398000													12	101					0	0	0.001368	0	0
NTM	50863	broad.mit.edu	37	11	132016253	132016253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:132016253G>A	ENST00000374786.1	+	2	724	c.245G>A	c.(244-246)tGg>tAg	p.W82*	NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*|NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000539799.1_Nonsense_Mutation_p.W82*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	82	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACAAGTGGTGCCTGGAT	0.567000													14	61					0	0	0.003163	0	0
IRF1	3659	broad.mit.edu	37	5	131819736	131819736	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:131819736G>A	ENST00000245414.4	-	10	1143	c.885C>T	c.(883-885)ttC>ttT	p.F295F	IRF1_ENST00000405885.2_Silent_p.F295F	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	295					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCAGATCTGTGAAGACACGCT	0.582000													5	59					0	0	0.000602	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378784	204378784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:204378784G>A	ENST00000367188.4	-	1	2135	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	586					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTTGAGTCACGACAGCCTTTC	0.438000													4	54					0	0	0.000248	0	0
CMYA5	202333	broad.mit.edu	37	5	79030301	79030301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:79030301C>G	ENST00000446378.2	+	2	5744	c.5713C>G	c.(5713-5715)Caa>Gaa	p.Q1905E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1905						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGGCTAGTCAACACGAACA	0.468000													7	42					0	0	0.003080	0	0
ZNF568	374900	broad.mit.edu	37	19	37440746	37440746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:37440746T>G	ENST00000415168.1	+	5	875	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.F231V|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGACAAGACTTCAGTCATAA	0.388000													10	57					0	0	0.006214	0	0
LAMB4	22798	broad.mit.edu	37	7	107667339	107667339	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:107667339C>G	ENST00000388780.3	-	34	5251	c.5168G>C	c.(5167-5169)aGa>aCa	p.R1723T	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388781.3_Intron|LAMB4_ENST00000205386.4_Intron			A4D0S4	LAMB4_HUMAN	laminin, beta 4	0	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTTTTCTATCTTGCTGAGTT	0.458000													7	46					0	0	0.003080	0	0
ITGA3	3675	broad.mit.edu	37	17	48148225	48148225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:48148225C>T	ENST00000320031.8	+	5	1012	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*|ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	228					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTACATGATTCAGCGCAAGGA	0.502000													37	229					0	0	0.006999	0	0
TULP4	56995	broad.mit.edu	37	6	158924402	158924402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:158924402C>T	ENST00000367097.3	+	13	5064	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1236					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAGCCTCTCCTATTGCACC	0.607000													14	85					0	0	0.008871	0	0
SNORA71C	677839	broad.mit.edu	37	20	37058387	37058387	+	RNA	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:37058387T>C	ENST00000364642.1	-	0	59					NR_003017.2																						CGGCAGTTCCTCTCCCTGCAC	0.587000													3	89					0	0	0.004672	0	0
ZNF281	23528	broad.mit.edu	37	1	200377024	200377024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:200377024C>A	ENST00000294740.2	-	2	1934	c.1810G>T	c.(1810-1812)Gat>Tat	p.D604Y	ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y|ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	604					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AAAACCTCATCAGGAATTCCA	0.388000													7	52					2.7689e-08	5.25415e-08	0.001984	1	0
OR4D6	219983	broad.mit.edu	37	11	59224763	59224763	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:59224763A>G	ENST00000300127.2	+	1	353	c.330A>G	c.(328-330)gcA>gcG	p.A110A		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTGGTGGGGCAGATATTTTTT	0.488000													23	163					0	0	0.002780	0	0
FAT1	2195	broad.mit.edu	37	4	187541760	187541760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:187541760C>A	ENST00000441802.2	-	10	6189	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1994	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E1994K(1)|p.E1997K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCGGCCTCGGTGGAATTC	0.418000										HNSCC(5;0.00058)			101	237					6.65942e-36	1.29526e-35	0.003610	1	0
TBC1D1	23216	broad.mit.edu	37	4	38134714	38134714	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:38134714A>G	ENST00000261439.4	+	19	3497	c.3142A>G	c.(3142-3144)Atg>Gtg	p.M1048V	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1048						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGTATTTGAAATGGACATCGC	0.423000													8	51					0	0	0.004482	0	0
CACNG5	27091	broad.mit.edu	37	17	64876761	64876761	+	Missense_Mutation	SNP	G	G	A	rs145214481		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:64876761G>A	ENST00000533854.1	+	4	608	c.371G>A	c.(370-372)cGt>cAt	p.R124H	CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H|CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	124					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGACACATCCGTCCCCACCGG	0.458000													20	129					0	0	0.008871	0	0
KLHL31	401265	broad.mit.edu	37	6	53516703	53516703	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:53516703A>G	ENST00000370905.3	-	3	1738	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	KLHL31_ENST00000407079.1_Missense_Mutation_p.L533P	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCCACGGTGAGCACGTCCAC	0.736000													3	17					0	0	0.004672	0	0
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:93617301C>G	ENST00000394236.3	-	8	1156	c.840G>C	c.(838-840)aaG>aaC	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383000													5	64					0	0	0.001168	0	0
TRMT11	60487	broad.mit.edu	37	6	126334221	126334221	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:126334221C>T	ENST00000334379.5	+	11	1234	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	TRMT11_ENST00000368332.3_Silent_p.V371V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	371					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GAAGACTAGTCTATTGGTTAC	0.343000													7	30					0	0	0.003080	0	0
PSRC1	84722	broad.mit.edu	37	1	109824269	109824269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:109824269G>C	ENST00000438534.2	-	4	629	c.491C>G	c.(490-492)tCt>tGt	p.S164C	PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C|PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	164	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCTCTTTCCAGATGTAGCCCG	0.577000													18	84					0	0	0.007413	0	0
CCDC151	115948	broad.mit.edu	37	19	11532486	11532486	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:11532486G>A	ENST00000356392.4	-	11	1536	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	CCDC151_ENST00000586836.1_Silent_p.F292F|CCDC151_ENST00000545100.1_Silent_p.F429F|CCDC151_ENST00000591179.1_Silent_p.F423F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	483										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTTCCCGCGAAGCGGCCGT	0.662000													11	65					0	0	0.001368	0	0
ZWINT	11130	broad.mit.edu	37	10	58118574	58118574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:58118574C>G	ENST00000373944.3	-	6	653	c.615G>C	c.(613-615)aaG>aaC	p.K205N	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						ACCTCTGCAGCTTGTCCCGCT	0.517000													20	138					0	0	0.001882	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654584	46654584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654584C>T	ENST00000253255.5	-	1	4635	c.4636G>A	c.(4636-4638)Gat>Aat	p.D1546N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1546					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCCTGATCATCTTCTATGTTG	0.483000													33	233					0	0	0.003755	0	0
ANKHD1	54882	broad.mit.edu	37	5	139885401	139885401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:139885401G>C	ENST00000297183.6	+	18	3479	c.3355G>C	c.(3355-3357)Gaa>Caa	p.E1119Q	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1119Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTCTGAACGAACTAA	0.393000													17	149					0	0	0.008871	0	0
MUC7	4589	broad.mit.edu	37	4	71346858	71346858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:71346858C>A	ENST00000413702.1	+	4	685	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P133T|MUC7_ENST00000304887.5_Missense_Mutation_p.P133T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	133	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GACTTTTCTTCCCCAGAATGC	0.448000													13	106					4.3838e-07	8.12047e-07	0.001855	1	0
NEK3	4752	broad.mit.edu	37	13	52709904	52709904	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr13:52709904G>C	ENST00000400357.2	-	12	2512	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V|NEK3_ENST00000452082.2_Missense_Mutation_p.L428V			P51956	NEK3_HUMAN	NIMA-related kinase 3	424					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378000													7	39					0	0	0.001984	0	0
SAFB	6294	broad.mit.edu	37	19	5667066	5667066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:5667066G>A	ENST00000292123.5	+	18	2451	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K|SAFB_ENST00000592224.1_Missense_Mutation_p.E781K|SAFB_ENST00000538656.1_Missense_Mutation_p.E624K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	782	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCATTACCCAGAACGCCATGG	0.607000													14	113					0	0	0.002450	0	0
FGD6	55785	broad.mit.edu	37	12	95603436	95603436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:95603436G>A	ENST00000343958.4	-	2	1847	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	542					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAAATGCTGAAGGTGATTT	0.423000													10	89					0	0	0.006214	0	0
ZNF782	158431	broad.mit.edu	37	9	99581236	99581236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:99581236G>A	ENST00000481138.1	-	6	1730	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGAACCTTCTGATGTACACTG	0.418000													31	200					0	0	0.002096	0	0
IPO13	9670	broad.mit.edu	37	1	44424510	44424510	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:44424510T>C	ENST00000372343.3	+	11	2639	c.1977T>C	c.(1975-1977)gaT>gaC	p.D659D		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	659					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGAGGATGATCATGAAGGCC	0.562000													11	78					0	0	0.000978	0	0
FAM111B	374393	broad.mit.edu	37	11	58891901	58891901	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:58891901C>T	ENST00000343597.3	+	4	522	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	FAM111B_ENST00000411426.1_Silent_p.L81L|FAM111B_ENST00000529618.1_Silent_p.L81L	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	111							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTACTCAGCCCTGAGTGCTAA	0.343000													9	48					0	0	0.004482	0	0
CRY1	1407	broad.mit.edu	37	12	107415889	107415889	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:107415889T>C	ENST00000008527.5	-	2	1107	c.240A>G	c.(238-240)ccA>ccG	p.P80P		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	80	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACACATCTGCTGGTTGTCCAC	0.323000													22	127					0	0	0.006320	0	0
CPSF7	79869	broad.mit.edu	37	11	61196678	61196678	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:61196678T>C	ENST00000340437.4	-	2	239	c.159A>G	c.(157-159)atA>atG	p.I53M	CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10M|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CGTCAGCATATATATCAATCA	0.483000													30	162					0	0	0.002836	0	0
HUWE1	10075	broad.mit.edu	37	X	53617986	53617986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:53617986G>A	ENST00000342160.3	-	33	4526	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1357					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGATTGGAGGAGGGTGGGTT	0.488000													4	20					0	0	0.000248	0	0
C1orf127	148345	broad.mit.edu	37	1	11017770	11017770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:11017770G>A	ENST00000377004.4	-	7	595	c.596C>T	c.(595-597)tCt>tTt	p.S199F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S50F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	50										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCTTCAAGAGAAGCCACCAG	0.577000													13	106					0	0	0.001368	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065144	13065144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:13065144C>G	ENST00000316939.1	-	2	570	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627000													17	130					0	0	0.006122	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357721	149357721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:149357721G>T	ENST00000286298.4	+	2	774	c.506G>T	c.(505-507)tGc>tTc	p.C169F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	169						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.C169F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTACTGTGCCTTATGATT	0.448000													18	96					3.41278e-10	6.53977e-10	0.004990	1	0
ACVRL1	94	broad.mit.edu	37	12	52309043	52309043	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:52309043G>A	ENST00000550683.1	+	6	950	c.849G>A	c.(847-849)tcG>tcA	p.S283S	ACVRL1_ENST00000388922.4_Silent_p.S269S|ACVRL1_ENST00000419526.2_Silent_p.S95S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	269	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGCAACTCGAGCACGCAGC	0.612000													9	68					0	0	0.001368	0	0
MAS1L	116511	broad.mit.edu	37	6	29454874	29454874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:29454874G>A	ENST00000377127.3	-	1	864	c.806C>T	c.(805-807)tCg>tTg	p.S269L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	269						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.S269L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CATGGGGGCCGAGATCTGCAC	0.512000													7	37					0	0	0.001984	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163924	141163924	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:141163924G>T	ENST00000514251.1	+	4	2973	c.2694G>T	c.(2692-2694)gaG>gaT	p.E898D	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	898					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTGCATGGAGATGAGTGAAG	0.522000													16	49					6.72482e-11	1.29503e-10	0.003163	1	0
RABEPK	10244	broad.mit.edu	37	9	127990196	127990196	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:127990196G>T	ENST00000373538.3	+	6	844	c.534G>T	c.(532-534)ctG>ctT	p.L178L	RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.L178L	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	178					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TAGACACTCTGACCTGGTCAC	0.483000													10	68					9.70103e-10	1.84985e-09	0.008291	1	0
SUN3	256979	broad.mit.edu	37	7	48035654	48035654	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:48035654C>G	ENST00000453192.2	-	8	874	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E223Q|SUN3_ENST00000473723.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	223	SUN.					integral to membrane		p.E223K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGCATTTCATGATTTAGG	0.284000													11	73					0	0	0.001368	0	0
DNAH11	8701	broad.mit.edu	37	7	21775391	21775391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:21775391C>T	ENST00000328843.6	+	47	7626	c.7595C>T	c.(7594-7596)gCa>gTa	p.A2532V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2525V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2532	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACACATTGGCAAGTCTCTCT	0.413000									Kartagener syndrome				9	88					0	0	0.004482	0	0
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977	by1000genomes	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:52623229G>C	ENST00000356770.4	-	17	2728	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								13	110					0	0	0.001855	0	0
AGTR1	185	broad.mit.edu	37	3	148459824	148459824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:148459824G>A	ENST00000542281.1	+	4	1448	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	AGTR1_ENST00000497524.1_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	334					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAACAAAAATGAGCACGCTTT	0.403000													7	44					0	0	0.001984	0	0
NCR1	9437	broad.mit.edu	37	19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:55421380G>A	ENST00000594765.1	+	5	662	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438000													23	169					0	0	0.002780	0	0
PSMF1	9491	broad.mit.edu	37	20	1115772	1115772	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:1115772A>G	ENST00000335877.6	+	4	550	c.374A>G	c.(373-375)aAg>aGg	p.K125R	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R|PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						AGGACCTACAAGAACAGTGAG	0.552000													7	55					0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045932	42045932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:42045932G>A	ENST00000372584.1	-	3	5551	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGGGGAGGAATTTCCTTT	0.557000													6	57					0	0	0.001984	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974913	32974913	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:32974913G>A	ENST00000229829.5	-	4	768	c.693C>T	c.(691-693)ggC>ggT	p.G231G	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	231					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACGAGGAAGCCCACCAGGC	0.627000													17	107					0	0	0.004007	0	0
HCN4	10021	broad.mit.edu	37	15	73614875	73614875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr15:73614875C>T	ENST00000261917.3	-	8	4552	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1187					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCCAGGTTCCCTCTGGGGT	0.582000													5	15					0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32632974	32632974	+	Silent	SNP	G	G	A	rs146604611	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:32632974G>A	ENST00000242310.4	-	1	2693	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	868					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAAGTCAGCGCAGAGCTTTA	0.468000													20	154					0	0	0.008871	0	0
SEPT3	55964	broad.mit.edu	37	22	42390724	42390724	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:42390724C>T	ENST00000396425.3	+	10	1148	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Silent_p.S275S|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000396426.3_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	0					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTCCGGTGAGCGTGGACACAG	0.542000													11	66					0	0	0.008291	0	0
EPN1	29924	broad.mit.edu	37	19	56204351	56204351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:56204351C>A	ENST00000411543.2	+	9	2017	c.1470C>A	c.(1468-1470)ttC>ttA	p.F490L	EPN1_ENST00000270460.6_Missense_Mutation_p.F404L|EPN1_ENST00000085079.7_Missense_Mutation_p.F378L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	404	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCGACGAGTTCTCTGACTTTG	0.701000													13	117					4.3838e-07	8.12047e-07	0.001855	1	0
RUSC1	23623	broad.mit.edu	37	1	155296505	155296505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:155296505G>C	ENST00000368352.5	+	8	2147	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	666	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTGCTCTTTGAGCACCACCA	0.642000													22	89					0	0	0.002780	0	0
HTR3C	170572	broad.mit.edu	37	3	183778119	183778119	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:183778119C>G	ENST00000318351.1	+	9	1357	c.1323C>G	c.(1321-1323)gtC>gtG	p.V441V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	441						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCCTTACTGTCATTGTCCTCT	0.557000													24	183					0	0	0.003954	0	0
GCNT4	51301	broad.mit.edu	37	5	74325189	74325189	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:74325189T>C	ENST00000322348.4	-	1	1535	c.674A>G	c.(673-675)aAc>aGc	p.N225S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	225					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CCCACACAAGTTGATAACATA	0.418000													4	78					0	0	0.000248	0	0
KIAA1109	84162	broad.mit.edu	37	4	123230492	123230492	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:123230492A>G	ENST00000264501.4	+	59	10498	c.10125A>G	c.(10123-10125)gcA>gcG	p.A3375A	KIAA1109_ENST00000455637.1_Silent_p.A3375A|KIAA1109_ENST00000388738.3_Silent_p.A3375A			Q2LD37	K1109_HUMAN	KIAA1109	3375					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCACTGCATGCTCTTCAG	0.378000													11	62					0	0	0.000978	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191746	54191746	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:54191746A>G	ENST00000408494.1	+	0	12					NR_031573.1																						TCAAGCTATGAGTCTACAAAG	0.413000													3	110					0	0	0.004672	0	0
PDS5A	23244	broad.mit.edu	37	4	39910122	39910122	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:39910122T>C	ENST00000303538.8	-	11	1665	c.1126A>G	c.(1126-1128)Att>Gtt	p.I376V	PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	376					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCATGACGAATAGCTTCTTCT	0.353000													16	100					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653935	46653935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46653935C>T	ENST00000253255.5	-	1	5284	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1762					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTTAGCCATCTATAGATGTC	0.423000													17	115					0	0	0.004990	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654251	46654251	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654251C>T	ENST00000253255.5	-	1	4968	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1657					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGATCTCAGTATATTTA	0.438000													10	80					0	0	0.008291	0	0
ALOX12B	242	broad.mit.edu	37	17	7984278	7984278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:7984278G>A	ENST00000319144.4	-	4	711	c.451C>T	c.(451-453)Cct>Tct	p.P151S	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	151	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642000										Multiple Myeloma(8;0.094)			6	66					0	0	0.003080	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	7					0	0	0.000248	0	0
USP6	9098	broad.mit.edu	37	17	5048731	5048731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:5048731C>T	ENST00000574788.1	+	27	4254	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	675					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAAATAGATCAATTATTGTG	0.358000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								9	62					0	0	0.008291	0	0
SCN1A	6323	broad.mit.edu	37	2	166854606	166854606	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:166854606A>G	ENST00000423058.2	-	23	4435	c.4418T>C	c.(4417-4419)tTc>tCc	p.F1473S	SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1473S|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1473						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCAAGGTGAAGAAGGACCC	0.343000													4	39					0	0	0.000248	0	0
CCDC47	57003	broad.mit.edu	37	17	61838631	61838631	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:61838631A>C	ENST00000225726.5	-	5	1010	c.628T>G	c.(628-630)Tct>Gct	p.S210A	CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A|CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTCGACCAGAACACCACAGG	0.433000													17	96					0	0	0.004990	0	0
ABL2	27	broad.mit.edu	37	1	179077353	179077353	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:179077353C>G	ENST00000502732.1	-	12	3252	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1017	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTGTGTTTCTGATGTGGAC	0.587000			T	ETV6	AML								19	119					0	0	0.008871	0	0
CCT2	10576	broad.mit.edu	37	12	69987352	69987352	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:69987352A>T	ENST00000543146.2	+	10	1282	c.800A>T	c.(799-801)cAt>cTt	p.H267L	CCT2_ENST00000544368.2_Missense_Mutation_p.H314L|CCT2_ENST00000299300.6_Missense_Mutation_p.H314L	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	314					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATTGAGCATGCAGATTTT	0.358000													9	45					0	0	0.008291	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603492	19603492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:19603492C>G	ENST00000404158.1	+	6	923	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	169					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGGCAGAGTCAAATACAAAA	0.517000													5	54					0	0	0.000602	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608358	31608358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:31608358C>A	ENST00000170150.3	+	13	1354	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	387						extracellular region	lipid binding										GGATGTCCAGCTCACGGTGGC	0.617000													9	93					0.000673444	0.0012017	0.008291	1	0
NBPF3	84224	broad.mit.edu	37	1	21800026	21800026	+	Silent	SNP	C	C	T	rs138236134		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:21800026C>T	ENST00000318220.6	+	10	1768	c.720C>T	c.(718-720)ctC>ctT	p.L240L	NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000342104.5_Silent_p.L296L|NBPF3_ENST00000318249.5_Silent_p.L296L			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	296	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCAACTCTCATTGACTCAT	0.463000													31	222					0	0	0.001786	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			16	50					0	0	0.004990	0	0
HUWE1	10075	broad.mit.edu	37	X	53619384	53619384	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:53619384G>C	ENST00000342160.3	-	32	4403	c.3946C>G	c.(3946-3948)Caa>Gaa	p.Q1316E	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1316	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTTGACTTGAGGTTCCCGG	0.537000													18	52					0	0	0.001523	0	0
MAST1	22983	broad.mit.edu	37	19	12951862	12951862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:12951862C>G	ENST00000251472.4	+	3	269	c.230C>G	c.(229-231)tCg>tGg	p.S77W	MAST1_ENST00000591495.1_Missense_Mutation_p.S73W	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	77					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACTTCTCGTTTGCCTCC	0.632000													17	77					0	0	0.006122	0	0
TMEM177	80775	broad.mit.edu	37	2	120439337	120439337	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:120439337G>C	ENST00000424086.1	+	2	1381	c.908G>C	c.(907-909)aGg>aCg	p.R303T	TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	303						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGATGTGGAGGGGGATGCTC	0.577000													9	80					0	0	0.008291	0	0
CCDC132	55610	broad.mit.edu	37	7	92987685	92987685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:92987685C>G	ENST00000544910.1	+	29	2962	c.2742C>G	c.(2740-2742)atC>atG	p.I914M	CCDC132_ENST00000305866.5_Missense_Mutation_p.I944M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000541136.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383000													12	77					0	0	0.000978	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653078	46653078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46653078G>C	ENST00000253255.5	-	1	6141	c.6142C>G	c.(6142-6144)Cac>Gac	p.H2048D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2048					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTCATAATGTGATCTACCTGA	0.438000													6	59					0	0	0.003080	0	0
CEP152	22995	broad.mit.edu	37	15	49054667	49054667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr15:49054667T>C	ENST00000380950.2	-	18	2670	c.2483A>G	c.(2482-2484)aAg>aGg	p.K828R	CEP152_ENST00000399334.3_Missense_Mutation_p.K828R|CEP152_ENST00000325747.5_Missense_Mutation_p.K735R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	828					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)		GGCTATGTCCTTCTCTTGTTC	0.373000													40	70					0	0	0.006999	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652485	46652485	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46652485C>T	ENST00000253255.5	-	1	6734	c.6735G>A	c.(6733-6735)ggG>ggA	p.G2245G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2245					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTTTCTTCCCGTTGATGT	0.473000													10	94					0	0	0.000978	0	0
MYH1	4619	broad.mit.edu	37	17	10408257	10408257	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:10408257G>T	ENST00000226207.5	-	22	2655	c.2561C>A	c.(2560-2562)gCc>gAc	p.A854D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	854						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATGTTGGCCATCTCCTT	0.443000													18	98					0.000175454	0.00031745	0.001523	1	0
CTAGE1	64693	broad.mit.edu	37	18	19995815	19995815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr18:19995815C>T	ENST00000391403.2	-	1	2063	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	654						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CCAGTTGCTTCATTTTCAGCG	0.453000													24	244					0	0	0.003954	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654120	46654120	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654120C>T	ENST00000253255.5	-	1	5099	c.5100G>A	c.(5098-5100)aaG>aaA	p.K1700K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1700					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATCCTCTTCTTTCTTTTGA	0.418000													7	82					0	0	0.003080	0	0
RAG1	5896	broad.mit.edu	37	11	36597850	36597850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:36597850C>G	ENST00000299440.5	+	2	3108	c.2996C>G	c.(2995-2997)tCc>tGc	p.S999C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	999					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGTACACCTCCAAATACCTC	0.448000									Familial Hemophagocytic Lymphohistiocytosis				14	73					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	90136535	90136535	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr5:90136535G>C	ENST00000405460.2	+	78	16848	c.16752G>C	c.(16750-16752)gaG>gaC	p.E5584D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5584					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACGCCAGAGACAGGATCTT	0.428000													28	190					0	0	0.008361	0	0
NAALADL1	10004	broad.mit.edu	37	11	64813736	64813736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:64813736C>T	ENST00000358658.3	-	15	1807	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000355369.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	594					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAGTGTCTCACTGTAGTCA	0.612000													12	50					0	0	0.001368	0	0
PIGB	9488	broad.mit.edu	37	15	55622047	55622047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr15:55622047G>A	ENST00000164305.5	+	5	939	c.648G>A	c.(646-648)atG>atA	p.M216I	PIGB_ENST00000539642.1_Missense_Mutation_p.M21I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	216					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CAAAGTCTATGAACAGGTAAG	0.308000													23	53					0	0	0.001882	0	0
RAC3	5881	broad.mit.edu	37	17	79991361	79991361	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:79991361C>T	ENST00000306897.4	+	5	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	112					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCATCCTCCTGGTGGGCAC	0.672000													4	47					0	0	0.001168	0	0
ZAN	7455	broad.mit.edu	37	7	100345255	100345255	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:100345255A>G	ENST00000542585.1	+	0	1162				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_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)			CAGCCGTGGGACGGATACAGG	0.527000													3	58					0	0	0.000248	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646718	127646718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:127646718G>A	ENST00000405109.1	+	3	1649	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	394										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGACAGATGAAAATTAAAA	0.393000													20	146					0	0	0.001523	0	0
TTC30A	92104	broad.mit.edu	37	2	178481760	178481760	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:178481760T>C	ENST00000355689.4	-	1	1934	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	557					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATAGTTTCCTTTGGCACAATA	0.383000													4	242					0	0	0.000248	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978631	148978631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:148978631G>A	ENST00000434415.1	+	6	1001	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	280					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCACAGTCTGAAGACGAGAT	0.627000													10	56					0	0	0.000978	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089160	43089160	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:43089160T>C	ENST00000359467.3	-	5	1352	c.1238A>G	c.(1237-1239)tAt>tGt	p.Y413C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	413						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATTACACTGATAGGGTTTCTC	0.423000													3	105					0	0	0.004672	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654948	46654948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654948C>T	ENST00000253255.5	-	1	4271	c.4272G>A	c.(4270-4272)atG>atA	p.M1424I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1424					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATTGATCTCATGTATTTCC	0.348000													8	60					0	0	0.003080	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463505	130463505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:130463505G>C	ENST00000356763.3	-	2	1115	c.558C>G	c.(556-558)ttC>ttG	p.F186L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	186	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATGTGTCAAAGAAATAATTGA	0.408000													11	48					0	0	0.008291	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025612	16025612	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:16025612C>T	ENST00000326742.7	-	9	1210	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	CYP4F11_ENST00000402119.3_Silent_p.T403T|CYP4F11_ENST00000248041.7_Silent_p.T403T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	403					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAAAGTCCTGCGTGCAACATC	0.632000													19	106					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179440094	179440094	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:179440094C>G	ENST00000589042.1	-	326	70989	c.70765G>C	c.(70765-70767)Gaa>Caa	p.E23589Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21948Q|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21948	Fibronectin type-III 71.						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)			ACAACACATTCTAACCCTTTC	0.507000													11	67					0	0	0.000978	0	0
ELN	2006	broad.mit.edu	37	7	73466086	73466086	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:73466086G>C	ENST00000252034.7	+	16	1205	c.806G>C	c.(805-807)gGa>gCa	p.G269A	ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A|ELN_ENST00000380562.4_Missense_Mutation_p.G269A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A|ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	269	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ACAGGTGCTGGAGCAGCCGGA	0.597000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	0.000602	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654926	46654926	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654926C>T	ENST00000253255.5	-	1	4293	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1432					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.E1432*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACACTTTCAATTCCTATC	0.348000													8	61					0	0	0.003080	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138429966	138429966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:138429966G>C	ENST00000310018.2	-	14	1662	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	460					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACCCGTGTAGATGGAGAAGA	0.488000													9	88					0	0	0.004482	0	0
CTSS	1520	broad.mit.edu	37	1	150722557	150722557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:150722557C>T	ENST00000368985.3	-	6	978	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CTSS_ENST00000448301.2_Missense_Mutation_p.E190K|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	240					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCTTCTTTCAGGACA	0.393000													8	29					0	0	0.003080	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632584	19632584	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:19632584G>A	ENST00000235835.3	-	6	867	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	282					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.A282A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCATATGCGGCCTGCAGGG	0.632000													10	66					0	0	0.008291	0	0
ZNF7	7553	broad.mit.edu	37	8	146067676	146067676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr8:146067676C>G	ENST00000528372.1	+	5	1424	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	395					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CTAAAAGCCTCAGACAGTCCA	0.493000													7	79					0	0	0.001984	0	0
ZNF281	23528	broad.mit.edu	37	1	200376835	200376835	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:200376835C>G	ENST00000294740.2	-	2	2123	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGGAGTATTCTTGCAACATA	0.403000													8	91					0	0	0.004482	0	0
MYLIP	29116	broad.mit.edu	37	6	16143386	16143386	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:16143386G>T	ENST00000349606.4	+	3	561	c.57G>T	c.(55-57)ctG>ctT	p.L19L	MYLIP_ENST00000356840.3_Silent_p.L200L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	200	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGCAGAAACTGCTCATTGGGG	0.433000													4	66					0.00024832	0.000447206	0.000248	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19702122	19702122	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:19702122T>A	ENST00000397821.3	-	6	835	c.545A>T	c.(544-546)gAg>gTg	p.E182V	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	182					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCCATCACTCTCGGAGCCTGT	0.537000													8	38					0	0	0.003080	0	0
RBM12B	389677	broad.mit.edu	37	8	94746869	94746869	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr8:94746869A>G	ENST00000399300.2	-	3	1983	c.1770T>C	c.(1768-1770)ccT>ccC	p.P590P	RBM12B_ENST00000517700.1_Silent_p.P590P|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	590							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGAAGGCCGCCTGA	0.617000													21	81					0	0	0.001882	0	0
DCHS2	54798	broad.mit.edu	37	4	155254167	155254167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:155254167C>T	ENST00000357232.3	-	9	1695	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	566	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCAGCAGGGCTGCCTGAGGA	0.607000													9	84					0	0	0.004482	0	0
ADCY7	113	broad.mit.edu	37	16	50348223	50348223	+	Silent	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr16:50348223C>A	ENST00000394697.2	+	24	3217	c.2877C>A	c.(2875-2877)gcC>gcA	p.A959A	ADCY7_ENST00000254235.3_Silent_p.A959A			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCAGCATGCCCACATTGGTG	0.622000													5	37					0.00116845	0.00206602	0.001168	1	0
NBPF9	400818	broad.mit.edu	37	1	144816648	144816648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:144816648G>C	ENST00000440491.2	+	5	781	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CTCTCATGTTGAACGGGAAGA	0.458000													39	275					0	0	0.008740	0	0
ALMS1	7840	broad.mit.edu	37	2	73828456	73828456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:73828456G>A	ENST00000264448.6	+	19	12115	c.12004G>A	c.(12004-12006)Gag>Aag	p.E4002K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4002					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCACTGCGGGAGCAGAACTG	0.582000													18	106					0	0	0.006122	0	0
UVSSA	57654	broad.mit.edu	37	4	1360143	1360143	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr4:1360143C>T	ENST00000389851.4	+	8	1659	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	UVSSA_ENST00000511216.1_Silent_p.D404D|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Silent_p.D404D	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	404																	AAGATGAGGACGATGAGGACT	0.587000													20	163					0	0	0.002780	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597525	62597525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:62597525G>A	ENST00000450537.1	-	5	1063	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGTGGCACGAGGTGCTTTG	0.582000													9	62					0	0	0.006214	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152892	101152892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:101152892A>T	ENST00000372782.3	-	5	501	c.454T>A	c.(454-456)Tta>Ata	p.L152I	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	449						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTCCATTAATTGCTTCAGT	0.403000													10	27					0	0	0.008291	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883604	58883604	+	RNA	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:58883604C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gcagctgcctctgaggcctca	0.582000													7	65					0	0	0.001984	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	9					0	0	0.003080	0	0
ZNF91	7644	broad.mit.edu	37	19	23544684	23544684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:23544684G>T	ENST00000300619.7	-	4	1302	c.1097C>A	c.(1096-1098)gCt>gAt	p.A366D	ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	366						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)				CTTATGATTAGCAAGGGTTGA	0.348000													11	42					6.40141e-05	0.000116362	0.000978	1	0
ZIC5	85416	broad.mit.edu	37	13	100617654	100617654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr13:100617654C>T	ENST00000267294.4	-	2	2202	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	657					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCACAACTTCAGGGTTCCCG	0.478000													13	69					0	0	0.001368	0	0
FCRL4	83417	broad.mit.edu	37	1	157556033	157556033	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:157556033C>A	ENST00000271532.1	-	6	1195	c.1060G>T	c.(1060-1062)Gca>Tca	p.A354S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	354	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TATCCCCCTGCATGGCTCTGT	0.537000													5	106					3.59834e-05	6.60261e-05	0.001168	1	0
DLG5	9231	broad.mit.edu	37	10	79570931	79570931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:79570931C>G	ENST00000372391.2	-	23	4389	c.4384G>C	c.(4384-4386)Gag>Cag	p.E1462Q	DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1462					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATGGATGCTCCGGGGTGGTG	0.637000													14	79					0	0	0.004007	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132920	64132920	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:64132920G>C	ENST00000295902.6	-	7	1831	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	416						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGAGCTGCAGAGGGCTCTGG	0.612000													21	93					0	0	0.008871	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653873	46653873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46653873C>T	ENST00000253255.5	-	1	5346	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1783					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGAGCTTTCAGGAAGAAAT	0.423000													19	172					0	0	0.001523	0	0
BMPER	168667	broad.mit.edu	37	7	34125426	34125426	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:34125426C>G	ENST00000297161.2	+	14	1841	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	BMPER_ENST00000426693.1_Silent_p.L489L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGCATCTCAAGGGCAAGC	0.433000													9	43					0	0	0.004482	0	0
ETS1	2113	broad.mit.edu	37	11	128359290	128359290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:128359290T>C	ENST00000392668.3	-	5	498	c.430A>G	c.(430-432)Atg>Gtg	p.M144V	ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V|ETS1_ENST00000526145.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M100V	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	100					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCTCCATTCATACAGAACTTC	0.532000													18	139					0	0	0.006122	0	0
POT1	25913	broad.mit.edu	37	7	124503479	124503479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:124503479C>A	ENST00000357628.3	-	8	1069	c.471G>T	c.(469-471)caG>caT	p.Q157H	POT1_ENST00000393329.1_Missense_Mutation_p.Q26H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	157					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACTGCATTGGCTGAACATCAC	0.408000													12	77					0.00136819	0.00240827	0.001368	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	48					0	0	0.000248	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602064	234602064	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:234602064C>G	ENST00000305139.6	+	1	553	c.414C>G	c.(412-414)ttC>ttG	p.F138L	UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CCCTGAACTTCTTTAAGGAGA	0.488000													10	73					0	0	0.008291	0	0
MOV10	4343	broad.mit.edu	37	1	113238852	113238852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:113238852C>T	ENST00000369644.1	+	13	2723	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	MOV10_ENST00000369645.1_Missense_Mutation_p.T621I|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.T621I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	621					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTCTTAATTACCACCCTCATC	0.532000													5	52					0	0	0.001984	0	0
SLC25A25	114789	broad.mit.edu	37	9	130863479	130863479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:130863479G>C	ENST00000373066.5	+	2	731	c.324G>C	c.(322-324)aaG>aaC	p.K108N	SLC25A25_ENST00000373064.5_Missense_Mutation_p.K88N|SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	88	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGTGTTTAAGAGTTTGGACA	0.512000													13	130					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654124	46654124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654124C>T	ENST00000253255.5	-	1	5095	c.5096G>A	c.(5095-5097)aGa>aAa	p.R1699K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1699					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCTCTTCTTTCTTTTGAATAT	0.418000													7	87					0	0	0.003080	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452968	130452968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:130452968G>C	ENST00000356763.3	-	4	1431	c.874C>G	c.(874-876)Cag>Gag	p.Q292E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAATCATCTGAGTTACCTAT	0.348000													9	65					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64564717	64564717	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr14:64564717A>G	ENST00000357395.3	+	63	12458	c.1314A>G	c.(1312-1314)aaA>aaG	p.K438K	SYNE2_ENST00000394768.2_Silent_p.K438K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.K4086K|SYNE2_ENST00000358025.3_Silent_p.K4053K|SYNE2_ENST00000344113.4_Silent_p.K4053K|SYNE2_ENST00000555002.1_Silent_p.K687K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4053					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGAGAAAAGAAGACCTGT	0.448000													11	81					0	0	0.008291	0	0
SPINT2	10653	broad.mit.edu	37	19	38781203	38781203	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:38781203C>G	ENST00000301244.7	+	6	1015	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V|CTB-102L5.4_ENST00000591889.1_Silent_p.P71P	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	194					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCTGCCCCTTGGCTCAAA	0.612000													4	25					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40364331	40364331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:40364331C>T	ENST00000221347.6	-	31	14318	c.14311G>A	c.(14311-14313)Gaa>Aaa	p.E4771K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4771	TIL 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAGCCTTCACGGCAGGCC	0.652000													10	71					0	0	0.000978	0	0
GPR158	57512	broad.mit.edu	37	10	25701358	25701358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:25701358G>A	ENST00000376351.3	+	4	1650	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	431						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATGCTGCTCGACTTCGTTAG	0.488000													8	175					0	0	0.006214	0	0
SEC31B	25956	broad.mit.edu	37	10	102249138	102249138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:102249138C>T	ENST00000370345.3	-	23	3139	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1014	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCTGGGGGCATAAATGTCT	0.527000													9	43					0	0	0.000978	0	0
PDXDC1	23042	broad.mit.edu	37	16	15130131	15130131	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr16:15130131G>A	ENST00000396410.4	+	23	2463	c.2366G>A	c.(2365-2367)tGa>tAa	p.*789*	PDXDC1_ENST00000325823.7_Silent_p.*774*|PDXDC1_ENST00000450288.2_Silent_p.*761*|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000563679.1_Silent_p.*807*	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	0					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCTTAAGATGAGACTCATTG	0.478000													11	85					0	0	0.008291	0	0
ZNF610	162963	broad.mit.edu	37	19	52852486	52852486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:52852486C>G	ENST00000601151.1	+	3	513	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000403906.3_Missense_Mutation_p.Q21E|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCTCTTCCTCAGGTAAAGTG	0.448000													6	34					0	0	0.003080	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134182	119134182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:119134182G>A	ENST00000264245.4	+	12	3938	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCAGGTCTCTGAGCCAGGAGA	0.532000													6	74					0	0	0.001168	0	0
HDAC7	51564	broad.mit.edu	37	12	48188581	48188581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:48188581C>T	ENST00000080059.7	-	12	1419	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	HDAC7_ENST00000427332.2_Missense_Mutation_p.E435K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	435	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCTCTGGCCTCAGGCTGCCCA	0.657000													11	68					0	0	0.000978	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620188	144620188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr8:144620188C>T	ENST00000262577.5	-	2	1380	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	450					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGCTGCGTCTCCGGATGAT	0.617000													9	85					0	0	0.006214	0	0
GRID1	2894	broad.mit.edu	37	10	87966143	87966143	+	Silent	SNP	G	G	T	rs61744114		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:87966143G>T	ENST00000327946.7	-	3	583	c.498C>A	c.(496-498)gtC>gtA	p.V166V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	166						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTAGAACATGACGAACTTCT	0.622000										Multiple Myeloma(13;0.14)			11	39					3.03607e-14	5.87578e-14	0.001368	1	0
KRT39	390792	broad.mit.edu	37	17	39122956	39122956	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:39122956G>A	ENST00000355612.2	-	1	188	c.153C>T	c.(151-153)ctC>ctT	p.L51L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	51	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGGGAATTCTGAGAACGTGGC	0.498000													41	243					0	0	0.006999	0	0
AKAP10	11216	broad.mit.edu	37	17	19850729	19850729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:19850729C>T	ENST00000225737.6	-	5	1124	c.967G>A	c.(967-969)Gac>Aac	p.D323N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	323	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CCTATGATGTCATTTCTCATT	0.323000													12	98					0	0	0.000978	0	0
POT1	25913	broad.mit.edu	37	7	124503478	124503478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:124503478G>A	ENST00000357628.3	-	8	1070	c.472C>T	c.(472-474)Cca>Tca	p.P158S	POT1_ENST00000393329.1_Missense_Mutation_p.P27S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	158					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TACTGCATTGGCTGAACATCA	0.408000													11	79					0	0	0.000978	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964913	88964913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:88964913G>A	ENST00000333190.4	+	4	3226	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	873						intracellular	zinc ion binding	p.E873*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAAATCAAGAGTCTTTGGG	0.428000										HNSCC(36;0.09)			8	60					0	0	0.003080	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36927505	36927505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:36927505G>C	ENST00000269554.3	-	8	1308	c.828C>G	c.(826-828)atC>atG	p.I276M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	276	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTAGTCCATGATCTTCAGCT	0.562000													8	39					0	0	0.003080	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3434561	3434561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr16:3434561C>T	ENST00000396852.4	-	6	1439	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D166N|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.D378N|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D378N|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D89N|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.D89N|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.D166N					zinc finger and SCAN domain containing 32																		ACAGTGCCATCTTCTACCTCC	0.527000													18	129					0	0	0.006122	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431887	67431887	+	Missense_Mutation	SNP	C	C	T	rs147016371	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:67431887C>T	ENST00000349015.3	-	8	1291	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	285					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTGGAGAAGGCGTACAGGGCC	0.637000													15	124					0	0	0.004007	0	0
GPR37	2861	broad.mit.edu	37	7	124404013	124404013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:124404013T>C	ENST00000303921.2	-	1	1668	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	340						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTACCTCTATATAGGGCACG	0.498000													34	211					0	0	0.004878	0	0
ARSD	414	broad.mit.edu	37	X	2825395	2825395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:2825395T>C	ENST00000381154.1	-	10	1774	c.1699A>G	c.(1699-1701)Atc>Gtc	p.I567V		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	567						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				TTCCACAGGATGTTGCTCATG	0.617000													6	27					0	0	0.001168	0	0
PSD4	23550	broad.mit.edu	37	2	113943603	113943603	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:113943603G>C	ENST00000245796.6	+	5	1594	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	PSD4_ENST00000441564.2_Missense_Mutation_p.E439Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	467					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGTCCCAGGAGGGCAGCCC	0.617000													8	59					0	0	0.003080	0	0
BZRAP1	9256	broad.mit.edu	37	17	56397485	56397485	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:56397485G>T	ENST00000355701.3	-	12	2349	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	BZRAP1_ENST00000343736.4_Silent_p.T493T|BZRAP1_ENST00000268893.6_Silent_p.T433T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	493						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAATCCAAGGTAGACTGTT	0.592000													9	47					3.09899e-07	5.7957e-07	0.004482	1	0
AP3D1	8943	broad.mit.edu	37	19	2110168	2110168	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:2110168C>T	ENST00000355272.6	-	28	3437	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000350812.6_Silent_p.Q846Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTTGAGCTTCTGCGCCATGA	0.642000													9	39					0	0	0.006214	0	0
FLAD1	80308	broad.mit.edu	37	1	154956218	154956218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:154956218G>C	ENST00000368433.1	+	1	391	c.48G>C	c.(46-48)agG>agC	p.R16S	FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Missense_Mutation_p.R16S|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000368432.1_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	16					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAACAAAGGAGTCGCTTGT	0.478000													4	75					0	0	0.000248	0	0
GFI1B	8328	broad.mit.edu	37	9	135862790	135862790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:135862790G>C	ENST00000339463.3	+	7	1041	c.222G>C	c.(220-222)agG>agC	p.R74S	GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S|GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	74					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACTTGGCCAGGATGGCCCCGG	0.617000													10	35					0	0	0.001368	0	0
CWC22	57703	broad.mit.edu	37	2	180838488	180838488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:180838488G>A	ENST00000410053.3	-	7	922	c.623C>T	c.(622-624)tCt>tTt	p.S208F	CWC22_ENST00000295749.6_Missense_Mutation_p.S208F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	208	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GAAGATTGGAGAAGCACTCTG	0.328000													7	50					0	0	0.004482	0	0
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502000													7	53					0	0	0.001984	0	0
RAC3	5881	broad.mit.edu	37	17	79991599	79991599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:79991599C>G	ENST00000306897.4	+	6	611	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	158					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAGTGCTCAGCCCTGACC	0.657000													9	43					0	0	0.004482	0	0
IGHA1	3493	broad.mit.edu	37	14	106174257	106174257	+	RNA	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr14:106174257C>G	ENST00000390547.2	-	0	531																											CCACAGAGGTCACGCTCAGGT	0.617000													4	24					0	0	0.000248	0	0
ADCY6	112	broad.mit.edu	37	12	49165584	49165584	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:49165584T>C	ENST00000307885.4	-	18	3654	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S	ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S|ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	987					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCAGAGAAGTTGGCAATGGA	0.537000													9	56					0	0	0.004482	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654045	46654045	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654045C>T	ENST00000253255.5	-	1	5174	c.5175G>A	c.(5173-5175)ttG>ttA	p.L1725L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1725					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGATAAGGATCAACAGAAGGG	0.383000													8	52					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103455092	103455092	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:103455092C>G	ENST00000358392.2	-	29	2729	c.2412G>C	c.(2410-2412)atG>atC	p.M804I	COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	792	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTAGACCCATGTCACCTT	0.289000													4	55					0	0	0.000602	0	0
KANK1	23189	broad.mit.edu	37	9	711776	711776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:711776G>A	ENST00000382303.1	+	7	1662	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	337					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGCTCTCCCGGGCCCGAAGA	0.537000													8	91					0	0	0.006214	0	0
FCGBP	8857	broad.mit.edu	37	19	40366539	40366539	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:40366539C>T	ENST00000221347.6	-	30	13702	c.13695G>A	c.(13693-13695)caG>caA	p.Q4565Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4565	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGAGTCCAGCTGGAAAGGCA	0.677000													10	60					0	0	0.008291	0	0
BCL6B	255877	broad.mit.edu	37	17	6930392	6930392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:6930392G>C	ENST00000293805.5	+	8	1401	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	437						nucleus	zinc ion binding			skin(1)	1						CCACACCGGAGAGAAGCCTTA	0.632000													4	61					0	0	0.000248	0	0
PLAUR	5329	broad.mit.edu	37	19	44160641	44160641	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:44160641T>C	ENST00000221264.4	-	4	888	c.462A>G	c.(460-462)gaA>gaG	p.E154E	PLAUR_ENST00000340093.3_Silent_p.E154E|PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000601723.1_Silent_p.E154E	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	154	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTTCTTCACCTTCCTGGATCC	0.577000													23	119					0	0	0.003954	0	0
KIAA0753	9851	broad.mit.edu	37	17	6510503	6510503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:6510503C>G	ENST00000361413.3	-	11	2275	c.1917G>C	c.(1915-1917)caG>caC	p.Q639H	KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H|KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	639						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATATTTACCTCTGTTTTTGCA	0.373000													20	167					0	0	0.001882	0	0
PROM2	150696	broad.mit.edu	37	2	95941259	95941259	+	Splice_Site	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:95941259G>T	ENST00000317620.9	+	2	427		c.e2+1		PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAATGAGGTGAGCAAGCT	0.602000													5	45					0.00116845	0.00206602	0.001168	1	0
DCDC2	51473	broad.mit.edu	37	6	24205370	24205370	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:24205370G>T	ENST00000378450.3	-	1	161	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	76	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAATCCAATTGTGACATCGTG	0.403000													8	143					1.06961e-07	2.01005e-07	0.003080	1	0
USH2A	7399	broad.mit.edu	37	1	215823958	215823958	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:215823958G>A	ENST00000366943.2	-	65	14705	c.14319C>T	c.(14317-14319)agC>agT	p.S4773S	USH2A_ENST00000307340.3_Silent_p.S4773S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4773	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGGGCGCTGCTGGAGAACA	0.493000										HNSCC(13;0.011)			15	88					0	0	0.003163	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654407	46654407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:46654407C>G	ENST00000253255.5	-	1	4812	c.4813G>C	c.(4813-4815)Gac>Cac	p.D1605H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1605					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTGACTTGTCATAGCCGTAA	0.393000													6	53					0	0	0.001168	0	0
BRCA2	675	broad.mit.edu	37	13	32972546	32972546	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr13:32972546A>G	ENST00000544455.1	+	27	10123	c.9896A>G	c.(9895-9897)cAg>cGg	p.Q3299R	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3299					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGCATTTCAGCCACCAAGG	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	93					0	0	0.004672	0	0
C12orf54	121273	broad.mit.edu	37	12	48888620	48888620	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:48888620G>A	ENST00000314014.2	+	8	413	c.282G>A	c.(280-282)ttG>ttA	p.L94L	C12orf54_ENST00000548364.1_Silent_p.L94L|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	94										endometrium(1)|large_intestine(4)	5						CCCCAAAGTTGAGAAGATTGC	0.483000													11	120					0	0	0.000978	0	0
NCOR2	9612	broad.mit.edu	37	12	124832798	124832798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:124832798C>T	ENST00000356219.3	-	30	4083	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1303K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1311					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGCCGTCTCATGGGGGGGT	0.622000											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0	0	0.000978	0	0
VPS13C	54832	broad.mit.edu	37	15	62256970	62256970	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr15:62256970G>C	ENST00000261517.5	-	31	3215	c.3142C>G	c.(3142-3144)Caa>Gaa	p.Q1048E	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1048					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTATGCTTTGATCATCAGAT	0.328000													22	57					0	0	0.002299	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37524339	37524339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:37524339G>C	ENST00000299824.1	+	4	642	c.453G>C	c.(451-453)aaG>aaC	p.K151N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	151					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCTGGTGAAGATCCTCGTTC	0.577000													5	25					0	0	0.000602	0	0
KCNB2	9312	broad.mit.edu	37	8	73849039	73849039	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCCGCCGACGATAATCACC	0.512000													13	111					0	0	0.001855	0	0
RSRC2	65117	broad.mit.edu	37	12	122991393	122991393	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr12:122991393C>T	ENST00000331738.7	-	9	1258	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	RSRC2_ENST00000354654.2_Silent_p.L323L|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	371										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAATACCCATCAATTTCCTAA	0.368000													12	116					0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55955577	55955577	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr10:55955577G>C	ENST00000409834.1	-	0	558				PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q391E			Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATGGACTTTGATTGTTTTCA	0.393000										HNSCC(58;0.16)			6	47					0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887265	12887265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:12887265C>T	ENST00000535591.1	-	3	787	c.592G>A	c.(592-594)Gtt>Att	p.V198I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	198										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGAGAGAACGAGCTTCTGA	0.517000													12	458					0	0	0.001368	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987709	223987709	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:223987709T>A	ENST00000391879.2	-	0	67				TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000498843.1_5'UTR			Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2						apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACGGACGCACTTTCTTCTCTT	0.428000													5	51					0	0	0.000602	0	0
CHEK2	11200	broad.mit.edu	37	22	29121060	29121060	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:29121060T>C	ENST00000382580.2	-	5	701	c.626A>G	c.(625-627)aAt>aGt	p.N209S	CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	166					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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAAGGTTCCATTGCCACTGTG	0.353000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	76					0	0	0.001984	0	0
UNC13B	10497	broad.mit.edu	37	9	35231142	35231142	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:35231142G>A	ENST00000378495.3	+	3	300	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	26	C2 1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTGACCCTGAAAGTACAGA	0.393000													5	33					0	0	0.000602	0	0
ARID1B	57492	broad.mit.edu	37	6	157505453	157505453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr6:157505453A>G	ENST00000346085.5	+	13	3435	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y1132C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1132					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAAAAGCAGTATATTCAGTAC	0.517000													13	53					0	0	0.002450	0	0
CPT1B	1375	broad.mit.edu	37	22	51010730	51010730	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr22:51010730C>G	ENST00000360719.2	-	12	1497	c.1360G>C	c.(1360-1362)Gac>Cac	p.D454H	CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	454					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGATTTGTCAAACCACCTG	0.507000													6	38					0	0	0.001168	0	0
TSC2	7249	broad.mit.edu	37	16	2098710	2098710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr16:2098710G>C	ENST00000219476.3	+	2	724	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000382538.6_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	32	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGTCTGCAGAGGGTAAACA	0.502000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	89					0	0	0.004482	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													4	54					0	0	0.000248	0	0
GP5	2814	broad.mit.edu	37	3	194118031	194118031	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:194118031C>G	ENST00000401815.1	-	1	1052	c.981G>C	c.(979-981)ctG>ctC	p.L327L	GP5_ENST00000323007.3_Silent_p.L327L			P40197	GPV_HUMAN	glycoprotein V (platelet)	327					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGCGCGCTCAGCCGCGGGC	0.726000													3	22					0	0	0.000248	0	0
ZNF77	58492	broad.mit.edu	37	19	2934164	2934164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr19:2934164C>G	ENST00000314531.4	-	4	1053	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTTTCTCTCCAGTGTGC	0.458000													9	91					0	0	0.004482	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61957758	61957758	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr11:61957758T>C	ENST00000306238.3	+	1	71	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	1						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TAAGCCACCATGAGGCTGTCG	0.577000													3	57					0	0	0.004672	0	0
TMEM196	256130	broad.mit.edu	37	7	19765219	19765219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:19765219C>A	ENST00000405844.1	-	3	1072	c.377G>T	c.(376-378)tGt>tTt	p.C126F	TMEM196_ENST00000405764.3_Missense_Mutation_p.C126F|TMEM196_ENST00000422233.1_Missense_Mutation_p.C58F|TMEM196_ENST00000493519.1_Missense_Mutation_p.C58F|TMEM196_ENST00000433641.1_Missense_Mutation_p.C58F			Q5HYL7	TM196_HUMAN	transmembrane protein 196	132						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GGCTAGTCGACAAGTGAGCCA	0.498000													11	52					6.40141e-05	0.000116362	0.000978	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135862907	135862907	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:135862907G>A	ENST00000250617.6	-	1	1340	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	45	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAGTCTGTTGATCAGTTTGC	0.433000													9	114					0	0	0.006214	0	0
ITGAM	3684	broad.mit.edu	37	16	31282283	31282283	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr16:31282283C>G	ENST00000544665.3	+	6	507	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	ITGAM_ENST00000287497.8_Missense_Mutation_p.Q146E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	146					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGTGTCCTCAAGAGGATAG	0.453000													42	216					0	0	0.002522	0	0
SI	6476	broad.mit.edu	37	3	164776814	164776814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:164776814C>G	ENST00000264382.3	-	12	1397	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	445	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTTCCCCTCTCATAGGTTG	0.363000										HNSCC(35;0.089)			3	48					0	0	0.004672	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
IL1RAP	3556	broad.mit.edu	37	3	190362120	190362121	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:190362120_190362121insA	ENST00000412504.2	+	9	1387_1388	c.1135_1136insA	c.(1135-1137)tgtfs	p.C379fs	IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.C379fs			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	379					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGTTGTTTACCATGTTTACTGG	0.416													20	47	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													3	4	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													6	3	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139402819	139402820	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139402819_139402820delCA	ENST00000277541.6	-	20	3264_3265	c.3189_3190delTG	c.(3187-3192)tgacfs	p.CD1063fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1063	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGGAGTCACACCAGTGCA	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	237	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													4	5	---	---	---	---					
DAAM1	23002	broad.mit.edu	37	14	59792758	59792758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:59792758delT	ENST00000395125.1	+	9	1160	c.1137delT	c.(1135-1137)cafs	p.H379fs	DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	379	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTACCCGCATTTCATGTCCA	0.443													7	50	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													4	2	---	---	---	---					
THRA	7067	broad.mit.edu	37	17	38241015	38241022	+	Frame_Shift_Del	DEL	CATCGCAG	CATCGCAG	-	rs11545238		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:38241015_38241022delCATCGCAG	ENST00000450525.2	+	6	1014_1021	c.523_530delCATCGCAG	c.(523-531)cfs	p.HRS175fs	THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000264637.4_Frame_Shift_Del_p.HRS175fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	175					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CACAGAGGCCCATCGCAGCACCAATGCC	0.606													14	186	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													4	5	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31022294	31022294	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:31022294delA	ENST00000375687.4	+	13	2203	c.1779delA	c.(1777-1779)atfs	p.I593fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.C594fs*25(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTACCAGATATGCCCCCGGA	0.532			"""F, N, Mis"""		"""MDS, CMML"""								11	91	---	---	---	---					
TCEAL3	85012	broad.mit.edu	37	X	102864119	102864120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:102864119_102864120insA	ENST00000372628.1	+	3	485_486	c.127_128insA	c.(127-129)atgfs	p.M43fs	TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	43	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						ggggaagacagaatgcgaggga	0.535													16	33	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													8	105	---	---	---	---					
IL1RAP	3556	broad.mit.edu	37	3	190362120	190362121	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr3:190362120_190362121insA	ENST00000412504.2	+	9	1387_1388	c.1135_1136insA	c.(1135-1137)tgtfs	p.C379fs	IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.C379fs			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	379					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGTTGTTTACCATGTTTACTGG	0.416													20	47	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_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													2	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139402819	139402820	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr9:139402819_139402820delCA	ENST00000277541.6	-	20	3264_3265	c.3189_3190delTG	c.(3187-3192)tgacfs	p.CD1063fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1063	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGGAGTCACACCAGTGCA	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	237	---	---	---	---					
DAAM1	23002	broad.mit.edu	37	14	59792758	59792758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr14:59792758delT	ENST00000395125.1	+	9	1160	c.1137delT	c.(1135-1137)cafs	p.H379fs	DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	379	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTACCCGCATTTCATGTCCA	0.443													7	50	---	---	---	---					
THRA	7067	broad.mit.edu	37	17	38241015	38241022	+	Frame_Shift_Del	DEL	CATCGCAG	CATCGCAG	-	rs11545238		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr17:38241015_38241022delCATCGCAG	ENST00000450525.2	+	6	1014_1021	c.523_530delCATCGCAG	c.(523-531)cfs	p.HRS175fs	THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000264637.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	175					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CACAGAGGCCCATCGCAGCACCAATGCC	0.606													14	186	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31022294	31022294	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chr20:31022294delA	ENST00000375687.4	+	13	2203	c.1779delA	c.(1777-1779)atfs	p.I593fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q592fs*5(1)|p.C594fs*25(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTACCAGATATGCCCCCGGA	0.532			"""F, N, Mis"""		"""MDS, CMML"""								11	91	---	---	---	---					
TCEAL3	85012	broad.mit.edu	37	X	102864119	102864120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125ccb76-bf8d-4ce7-a04c-4424d6da0322	8e550489-3da4-4a0f-8c20-b649aa5e7648	g.chrX:102864119_102864120insA	ENST00000372628.1	+	3	485_486	c.127_128insA	c.(127-129)atgfs	p.M43fs	TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	43	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						ggggaagacagaatgcgaggga	0.535													16	33	---	---	---	---					
