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
APLF	200558	broad.mit.edu	37	2	68729908	68729908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:68729908C>T	ENST00000303795.4	+	3	385	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	72	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAGAGTCAGCTCTTACCATT	0.303000													31	76					0	0	0.760397	0	0
FCRLB	127943	broad.mit.edu	37	1	161697075	161697075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697075C>A	ENST00000367948.2	+	8	1119	c.904C>A	c.(904-906)Cca>Aca	p.P302T	FCRLB_ENST00000367946.3_Silent_p.L253L|FCRLB_ENST00000336830.5_Missense_Mutation_p.S267Y|FCRLB_ENST00000392158.1_Missense_Mutation_p.P302T|FCRLB_ENST00000367944.3_Missense_Mutation_p.S260Y|FCRLB_ENST00000367945.1_Silent_p.L246L|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	302						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCCCAGCTCCATGGGCCGC	0.652000													11	36					0.000673444	0.00070198	0.361761	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184386	130184386	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:130184386T>C	ENST00000422113.2	-	2	1263	c.937A>G	c.(937-939)Aga>Gga	p.R313G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	313						integral to membrane		p.R313G(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGAATTTCTGGAGATGGAA	0.502000													10	22					0	0	0.335167	0	0
HECTD1	25831	broad.mit.edu	37	14	31598317	31598317	+	Silent	SNP	A	A	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:31598317A>C	ENST00000399332.1	-	25	4748	c.4260T>G	c.(4258-4260)gcT>gcG	p.A1420A	HECTD1_ENST00000553700.1_Silent_p.A1420A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1420	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATGGACATCAGCTCCTGAAA	0.478000													3	126					0	0	0.150653	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGCGTCGTGCACGGGT	0.741000	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	5					0	0	0.184627	0	0
MAP3K6	9064	broad.mit.edu	37	1	27682581	27682581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:27682581G>C	ENST00000374040.3	-	26	3883	c.3623C>G	c.(3622-3624)tCa>tGa	p.S1208*	MAP3K6_ENST00000493901.1_Nonsense_Mutation_p.S1216*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.S1216*			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1216					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGTCCGTTGAAAGAGCAGC	0.562000													14	41					0	0	0.520397	0	0
ATP5S	27109	broad.mit.edu	37	14	50792426	50792426	+	Silent	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:50792426A>G	ENST00000311459.7	+	5	1013	c.633A>G	c.(631-633)aaA>aaG	p.K211K	ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000554438.1_3'UTR	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	211					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TGGAACTAAAATTACAATTGA	0.308000													28	55					0	0	0.681144	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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	45					0.000422831	0.000448347	0.500413	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42110413	42110413	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42110413A>T	ENST00000457542.2	+	18	2288	c.2002A>T	c.(2002-2004)Atc>Ttc	p.I668F	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.I551F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.I668F|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.I674F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.I507F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	674								p.I668F(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCTCAGGGATCTACATTGC	0.572000													11	49					0	0	0.435327	0	0
PAN2	9924	broad.mit.edu	37	12	56720656	56720656	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:56720656A>T	ENST00000425394.2	-	7	1383	c.1007T>A	c.(1006-1008)tTt>tAt	p.F336Y	PAN2_ENST00000548043.1_Missense_Mutation_p.F336Y|PAN2_ENST00000257931.5_Missense_Mutation_p.F336Y|PAN2_ENST00000440411.3_Missense_Mutation_p.F336Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557000													32	71					0	0	0.750413	0	0
B3GALTL	145173	broad.mit.edu	37	13	31891811	31891811	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr13:31891811G>A	ENST00000343307.4	+	13	1322	c.1173G>A	c.(1171-1173)acG>acA	p.T391T		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	391					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCTACATCACGGGAGGAGGAG	0.527000													15	50					0	0	0.479597	0	0
CXorf22	170063	broad.mit.edu	37	X	35993984	35993984	+	Silent	SNP	C	C	A	rs138251686		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:35993984C>A	ENST00000297866.5	+	15	2733	c.2667C>A	c.(2665-2667)ccC>ccA	p.P889P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	889										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATGGCAACCCGTAAACACAG	0.358000													22	38					7.87624e-14	9.054e-14	0.639603	1	0
UGT2B11	10720	broad.mit.edu	37	4	70071211	70071211	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:70071211C>G	ENST00000446444.1	-	4	1085	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	359					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAAGGTCATTCTGGGGTATCC	0.373000													7	127					0	0	0.248553	0	0
FN1	2335	broad.mit.edu	37	2	216298182	216298182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:216298182C>T	ENST00000354785.4	-	3	649	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FN1_ENST00000356005.4_Missense_Mutation_p.E94K|FN1_ENST00000346544.3_Missense_Mutation_p.E94K|FN1_ENST00000345488.5_Missense_Mutation_p.E94K|FN1_ENST00000336916.4_Missense_Mutation_p.E94K|FN1_ENST00000446046.1_Missense_Mutation_p.E94K|FN1_ENST00000426059.1_Missense_Mutation_p.E94K|FN1_ENST00000432072.2_Missense_Mutation_p.E94K|FN1_ENST00000443816.1_Missense_Mutation_p.E94K|FN1_ENST00000421182.1_Missense_Mutation_p.E94K|FN1_ENST00000359671.1_Missense_Mutation_p.E94K|FN1_ENST00000357867.4_Missense_Mutation_p.E94K|FN1_ENST00000357009.2_Missense_Mutation_p.E94K|FN1_ENST00000323926.6_Missense_Mutation_p.E94K			P02751	FINC_HUMAN	fibronectin 1	94	Fibrin- and heparin-binding 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGTCTCTTCAGCTGAGGGG	0.468000													10	32					0	0	0.361761	0	0
RSPH9	221421	broad.mit.edu	37	6	43638533	43638533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:43638533G>T	ENST00000372165.4	+	6	783	c.730G>T	c.(730-732)Gag>Tag	p.E244*	RSPH9_ENST00000372163.4_Missense_Mutation_p.W226C	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		p.W226C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGGGTCCTGGAGCATCCAGA	0.642000									Kartagener syndrome				6	51					7.48243e-07	8.21731e-07	0.335167	1	0
MAP6	4135	broad.mit.edu	37	11	75298616	75298616	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:75298616G>A	ENST00000304771.3	-	4	2680	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	MAP6_ENST00000526740.1_Missense_Mutation_p.P315S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	644	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGATGCTCTGGGACCATGGGA	0.517000													44	138					0	0	0.870114	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559527	129559527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:129559527G>T	ENST00000422113.2	-	9	2519	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F269L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	731						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATCAAGGAGAAGTCTTTCC	0.473000													13	35					1.61879e-10	1.82671e-10	0.411799	1	0
PLB1	151056	broad.mit.edu	37	2	28761181	28761181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:28761181C>T	ENST00000422425.2	+	10	628	c.584C>T	c.(583-585)tCa>tTa	p.S195L	PLB1_ENST00000327757.5_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	185	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCTCCTCTCACAGAATGGG	0.657000													3	22					0	0	0.184627	0	0
ZFP36	7538	broad.mit.edu	37	19	39898771	39898771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:39898771G>A	ENST00000597629.1	+	2	505	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.R138H			P26651	TTP_HUMAN	ZFP36 ring finger protein	138					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGCCAATCGCCACCCCAAA	0.612000													37	93					0	0	0.804634	0	0
GCC1	79571	broad.mit.edu	37	7	127223255	127223255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:127223255C>T	ENST00000321407.2	-	2	1565	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	381						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGGCTTTCTCGTAGGTGCCT	0.547000													32	92					0	0	0.769981	0	0
BAGE2	85319	broad.mit.edu	37	21	11039138	11039138	+	RNA	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr21:11039138G>A	ENST00000470054.1	-	0	1065									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATAATGAAGTGCTTTC	0.403000													17	295					0	0	0.557998	0	0
FAT1	2195	broad.mit.edu	37	4	187518254	187518254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:187518254C>T	ENST00000441802.2	-	25	12649	c.12440G>A	c.(12439-12441)gGc>gAc	p.G4147D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4147	EGF-like 5; calcium-binding (Potential).				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			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						GTGATAGGAGCCGTGCGTGTT	0.587000										HNSCC(5;0.00058)			9	16					0	0	0.307466	0	0
FSCB	84075	broad.mit.edu	37	14	44974982	44974982	+	Silent	SNP	G	G	A	rs140508672	by1000genomes	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:44974982G>A	ENST00000340446.4	-	1	1500	c.1209C>T	c.(1207-1209)ggC>ggT	p.G403G		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	403	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCAAGGGCGCCCTCAGCTG	0.517000													20	69					0	0	0.592651	0	0
LCT	3938	broad.mit.edu	37	2	136546023	136546023	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:136546023G>A	ENST00000264162.2	-	17	5665	c.5655C>T	c.(5653-5655)taC>taT	p.Y1885Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1885					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAAAGAGAACGTACAAAGCTG	0.522000													31	146					0	0	0.769981	0	0
PRDM2	7799	broad.mit.edu	37	1	14106924	14106924	+	Silent	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:14106924A>G	ENST00000235372.7	+	8	3490	c.2634A>G	c.(2632-2634)gtA>gtG	p.V878V	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V677V|PRDM2_ENST00000311066.5_Silent_p.V878V|PRDM2_ENST00000343137.4_Silent_p.V677V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	878						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTAGTGCTGTAAAGAAAAGGA	0.423000													26	68					0	0	0.706142	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573780	53573780	+	Missense_Mutation	SNP	G	G	A	rs151174558		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:53573780G>A	ENST00000025008.5	-	10	1943	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R474C|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R474C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	474					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.R474C(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTACGAGGCGGAGCAAAGCT	0.378000													16	66					0	0	0.500413	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983757	2983757	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr16:2983757C>T	ENST00000399667.2	+	6	1653	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	FLYWCH1_ENST00000253928.9_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	430						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGGGCAGCTTCCTGGTGTACG	0.682000													7	9					0	0	0.278610	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	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 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			8	15					0	0	0.335167	0	0
OR4A15	81328	broad.mit.edu	37	11	55135388	55135388	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:55135388T>A	ENST00000314706.3	+	1	29	c.29T>A	c.(28-30)tTt>tAt	p.F10Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AATCTCAAATTTATCACTGAC	0.408000													7	43					0	0	0.278610	0	0
GABRA4	2557	broad.mit.edu	37	4	46930431	46930431	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:46930431G>A	ENST00000264318.3	-	9	2458	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	492					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAGCCCCTATGGTATTAACTG	0.473000													16	77					0	0	0.520397	0	0
ADAM29	11086	broad.mit.edu	37	4	175897355	175897355	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:175897355G>T	ENST00000359240.3	+	5	1349	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	ADAM29_ENST00000404450.4_Missense_Mutation_p.V227F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V227F|ADAM29_ENST00000445694.1_Missense_Mutation_p.V227F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	227	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGATCTATATGTTATTGTTAA	0.338000													23	42					1.10513e-12	1.25862e-12	0.624587	1	0
SMOC1	64093	broad.mit.edu	37	14	70490018	70490018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:70490018G>A	ENST00000381280.4	+	11	1398	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R382Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	382	EF-hand 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R382Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTAACAAGCGGGAGATGAAG	0.542000													20	61					0	0	0.592651	0	0
KCNB1	3745	broad.mit.edu	37	20	47991218	47991218	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr20:47991218G>A	ENST00000371741.4	-	2	1045	c.879C>T	c.(877-879)cgC>cgT	p.R293R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGACCACGCGGCGGACATTCT	0.537000													20	34					0	0	0.592651	0	0
TIGD3	220359	broad.mit.edu	37	11	65123651	65123651	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65123651G>A	ENST00000309880.5	+	2	579	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	124	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGGCTGGCTGGTCCGCTGGA	0.662000													11	42					0	0	0.411799	0	0
NELL2	4753	broad.mit.edu	37	12	45170851	45170851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:45170851C>G	ENST00000429094.2	-	7	1240	c.736G>C	c.(736-738)Gat>Cat	p.D246H	NELL2_ENST00000437801.2_Missense_Mutation_p.D296H|NELL2_ENST00000551601.1_Missense_Mutation_p.D245H|NELL2_ENST00000549027.1_Missense_Mutation_p.D245H|NELL2_ENST00000333837.4_Missense_Mutation_p.D269H|NELL2_ENST00000395487.2_Missense_Mutation_p.D245H|NELL2_ENST00000452445.2_Missense_Mutation_p.D246H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	246	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D246H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCTAAAATATCCTGTAGCTCC	0.378000													12	49					0	0	0.387290	0	0
RAB1B	81876	broad.mit.edu	37	11	66043605	66043605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:66043605G>T	ENST00000311481.6	+	6	649	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	RAB1B_ENST00000527397.1_Nonsense_Mutation_p.E136*|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	168					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CATGGCTGCTGAAATCAAAAA	0.597000													5	22					0.184627	0.186141	0.184627	1	0
FAM161B	145483	broad.mit.edu	37	14	74413239	74413239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:74413239G>A	ENST00000286544.3	-	2	511	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	FAM161B_ENST00000534936.1_Missense_Mutation_p.P42S	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTGGCCCTGGGCAAAACCAGC	0.507000													4	139					0	0	0.150653	0	0
DHX34	9704	broad.mit.edu	37	19	47856424	47856424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:47856424A>G	ENST00000328771.4	+	2	486	c.137A>G	c.(136-138)gAa>gGa	p.E46G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	46						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTCTTCCGTGAAGAGGATTAC	0.537000													17	40					0	0	0.575678	0	0
HRNR	388697	broad.mit.edu	37	1	152192821	152192821	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192821C>G	ENST00000368801.2	-	3	1359	c.1284G>C	c.(1282-1284)caG>caC	p.Q428H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	428					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCCACGCTGGCCGTGGC	0.612000													18	44					0	0	0.575678	0	0
DOK6	220164	broad.mit.edu	37	18	67406313	67406313	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:67406313A>T	ENST00000382713.5	+	6	902	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	238				M -> V (in Ref. 5; BAB71577).			insulin receptor binding	p.M238L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TGAAAGATTAATGCTAGAAAT	0.443000													34	35					0	0	0.796494	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778484	31778484	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:31778484G>A	ENST00000375654.4	-	2	1455	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	HSPA1L_ENST00000417199.3_Silent_p.I422I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	422					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCTTGGTGGGGATGGTGGAGT	0.597000													23	68					0	0	0.608945	0	0
EPDR1	54749	broad.mit.edu	37	7	37988572	37988572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37988572G>A	ENST00000199448.4	+	2	779	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	EPDR1_ENST00000476620.1_Missense_Mutation_p.E32K|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.E254K|EPDR1_ENST00000425345.1_Missense_Mutation_p.E73K	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	134					cell-matrix adhesion	extracellular region	calcium ion binding	p.E254K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CTCCACCTTTGAAGACCAGTA	0.512000													15	26					0	0	0.479597	0	0
SIX2	10736	broad.mit.edu	37	2	45233324	45233324	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:45233324C>T	ENST00000303077.6	-	2	1180	c.861G>A	c.(859-861)gtG>gtA	p.V287V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	287						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGTCCACGAGGTTGG	0.642000													13	56					0	0	0.435327	0	0
FKBP8	23770	broad.mit.edu	37	19	18649084	18649084	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:18649084G>A	ENST00000597960.2	-	5	834	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FKBP8_ENST00000453489.2_Silent_p.F266F|FKBP8_ENST00000222308.3_Silent_p.F238F|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Silent_p.F237F			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	237					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGCCAGGACGAAGTCCGCCC	0.667000													5	68					0	0	0.217242	0	0
WASF1	8936	broad.mit.edu	37	6	110423257	110423257	+	Silent	SNP	T	T	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:110423257T>G	ENST00000392589.1	-	10	1892	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	WASF1_ENST00000392587.2_Silent_p.V352V|WASF1_ENST00000392588.1_Silent_p.V352V|WASF1_ENST00000359451.2_Silent_p.V352V|WASF1_ENST00000392586.1_Silent_p.V352V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	352	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTGGGGGAGGTACTGGAGGGG	0.572000													8	33					0	0	0.500413	0	0
GPR179	440435	broad.mit.edu	37	17	36485397	36485397	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr17:36485397C>A	ENST00000342292.4	-	11	4075	c.4055G>T	c.(4054-4056)aGt>aTt	p.S1352I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1352						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCCTCCACACTGTCCCCCGC	0.627000													10	44					1.58986e-06	1.73056e-06	0.361761	1	0
ARF4	378	broad.mit.edu	37	3	57569702	57569702	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:57569702T>C	ENST00000303436.6	-	3	448	c.181A>G	c.(181-183)Att>Gtt	p.I61V	ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000496292.1_Missense_Mutation_p.I34V|ARF4_ENST00000489843.1_Intron	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	61					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	p.I61V(1)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GTGAAACAAATGTTCTTATAT	0.353000													26	35					0	0	0.729181	0	0
GCM2	9247	broad.mit.edu	37	6	10874807	10874807	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:10874807G>A	ENST00000379491.4	-	5	1089	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	314					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTATGAATTGACATTACATT	0.428000													52	131					0	0	0.870114	0	0
PRDM11	56981	broad.mit.edu	37	11	45246383	45246383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:45246383C>T	ENST00000263765.4	+	8	1709	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.S487L|PRDM11_ENST00000424263.2_Missense_Mutation_p.S453L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	487								p.S487L(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGAGTTCTCGGACCCTGCA	0.542000													30	68					0	0	0.740014	0	0
ETV1	2115	broad.mit.edu	37	7	13935510	13935510	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:13935510T>C	ENST00000343495.5	-	13	2099	c.1361A>G	c.(1360-1362)aAc>aGc	p.N454S	ETV1_ENST00000405218.2_Missense_Mutation_p.N472S|ETV1_ENST00000403685.1_Missense_Mutation_p.N454S|ETV1_ENST00000399357.3_Missense_Mutation_p.N369S|ETV1_ENST00000405358.4_Missense_Mutation_p.N486S|ETV1_ENST00000403527.1_Missense_Mutation_p.N432S|ETV1_ENST00000405192.2_Missense_Mutation_p.N449S|ETV1_ENST00000430479.1_Missense_Mutation_p.N472S|ETV1_ENST00000242066.5_Missense_Mutation_p.N454S|ETV1_ENST00000420159.2_Missense_Mutation_p.N414S			P50549	ETV1_HUMAN	ets variant 1	472					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGCCTTCGTTGTAGGGGTG	0.483000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	20					0	0	0.248553	0	0
PLEC	5339	broad.mit.edu	37	8	144993862	144993862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144993862C>T	ENST00000322810.4	-	32	10707	c.10538G>A	c.(10537-10539)cGc>cAc	p.R3513H	PLEC_ENST00000357649.2_Missense_Mutation_p.R3380H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3403H|PLEC_ENST00000345136.3_Missense_Mutation_p.R3376H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3399H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3344H|PLEC_ENST00000354589.3_Missense_Mutation_p.R3376H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3354H|PLEC_ENST00000356346.3_Missense_Mutation_p.R3362H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3513	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCCCGGCGCATGGCCTC	0.687000													12	27					0	0	0.457914	0	0
EPHA10	284656	broad.mit.edu	37	1	38227606	38227606	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:38227606G>A	ENST00000373048.4	-	3	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	EPHA10_ENST00000319637.6_Silent_p.F107F|EPHA10_ENST00000427468.2_Silent_p.F107F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	107						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGGAGTGTGAACTGCAGTT	0.622000													41	101					0	0	0.859065	0	0
CDS1	1040	broad.mit.edu	37	4	85566477	85566477	+	Splice_Site	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:85566477A>T	ENST00000295887.5	+	12	1678	c.1256_splice	c.e12+1	p.R419_splice		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	419					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAGTTTTATAAGGTACTTTTA	0.328000													29	30					0	0	0.706142	0	0
CDYL	9425	broad.mit.edu	37	6	4935984	4935984	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:4935984G>A	ENST00000328908.5	+	5	1220	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000343762.5_Silent_p.E177E|CDYL_ENST00000449732.2_Silent_p.E177E|CDYL_ENST00000397588.3_Silent_p.E309E			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	363					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGTCCTCAGAGAATAACTCAC	0.532000													23	70					0	0	0.667858	0	0
STAB1	23166	broad.mit.edu	37	3	52553341	52553341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:52553341G>A	ENST00000321725.6	+	49	5172	c.5096G>A	c.(5095-5097)gGc>gAc	p.G1699D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1699	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G1699D(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGTGAACGGCATCCTGCAC	0.642000													63	76					0	0	0.870114	0	0
HLA-A	3105	broad.mit.edu	37	6	29910349	29910349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:29910349C>T	ENST00000396634.1	+	3	360	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATGGCGCCCCGAACCCTCCT	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	33					0	0	0.435327	0	0
TOR4A	54863	broad.mit.edu	37	9	140173372	140173372	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:140173372C>T	ENST00000357503.2	+	2	427	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	77					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CAAAGTTCTTCACCTTCGACA	0.736000													4	4					0	0	0.184627	0	0
SYPL2	284612	broad.mit.edu	37	1	110022065	110022065	+	Silent	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:110022065G>C	ENST00000369872.3	+	6	930	c.714G>C	c.(712-714)ccG>ccC	p.P238P	SYPL2_ENST00000401021.3_Silent_p.P174P	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	238	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGGAGACCCCGTGGCATGGAc	0.582000													22	51					0	0	0.624587	0	0
ATG2A	23130	broad.mit.edu	37	11	64665596	64665596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:64665596C>T	ENST00000421419.2	-	34	4940	c.4826G>A	c.(4825-4827)gGc>gAc	p.G1609D	ATG2A_ENST00000377264.3_Missense_Mutation_p.G1607D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1607							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGTTGATGCCGGCCACCAG	0.627000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	143					0	0	0.150653	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55605735	55605735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:55605735C>T	ENST00000263433.3	-	13	1676	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R480H|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R554H	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	554						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCGAGACTGGCGCATGAGACG	0.642000													12	50					0	0	0.500413	0	0
EPPK1	83481	broad.mit.edu	37	8	144944533	144944533	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr8:144944533C>T	ENST00000525985.1	-	2	2960	c.2889G>A	c.(2887-2889)ctG>ctA	p.L963L				P58107	EPIPL_HUMAN	epiplakin 1	963						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCCAGCAGGGCCAGGG	0.716000													3	12					0	0	0.115264	0	0
SART1	9092	broad.mit.edu	37	11	65735028	65735028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65735028G>A	ENST00000312397.5	+	11	1492	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	467					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCCGAGTGGAGAAC	0.682000													10	20					0	0	0.335167	0	0
ELMO1	9844	broad.mit.edu	37	7	37264524	37264524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:37264524G>A	ENST00000310758.4	-	9	1308	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q221*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q221*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	221					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.Q221*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATCTCCTGCGCCACTTTC	0.532000													13	29					0	0	0.457914	0	0
TRMT13	54482	broad.mit.edu	37	1	100598746	100598746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:100598746C>A	ENST00000370141.2	+	1	28	c.22C>A	c.(22-24)Ccg>Acg	p.P8T	TRMT13_ENST00000370143.1_Missense_Mutation_p.P8T	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		CGCGACGTCGCCGCACGCGCC	0.552000													8	33					0.000274275	0.000293355	0.307466	1	0
DCC	1630	broad.mit.edu	37	18	50942511	50942511	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:50942511A>C	ENST00000442544.2	+	21	3764	c.3148A>C	c.(3148-3150)Atg>Ctg	p.M1050L	DCC_ENST00000581580.1_Missense_Mutation_p.M685L|DCC_ENST00000412726.1_Missense_Mutation_p.M878L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1050					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.M1050L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTGACAAAATGGCTAATGA	0.378000													10	10					0	0	0.411799	0	0
BRINP2	57795	broad.mit.edu	37	1	177249883	177249883	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:177249883G>A	ENST00000361539.4	+	8	1883	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		524						extracellular region		p.R524H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGGATAGCCGCATTGAGGTA	0.567000													13	22					0	0	0.457914	0	0
ARID2	196528	broad.mit.edu	37	12	46244616	46244616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:46244616C>T	ENST00000334344.6	+	15	2882	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q514*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q755*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	904	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q904*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCCCTTCTCAGCAAGTTTC	0.483000			"""N, S, F"""		hepatocellular carcinoma								16	63					0	0	0.479597	0	0
MOV10	4343	broad.mit.edu	37	1	113240920	113240920	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:113240920C>T	ENST00000369644.1	+	17	3189	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	MOV10_ENST00000369645.1_Silent_p.I776I|MOV10_ENST00000357443.2_Silent_p.I776I|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.I776I			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	776					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)		GCTTTCCCATCATCTTTCACG	0.557000													7	28					0	0	0.248553	0	0
PCNXL3	399909	broad.mit.edu	37	11	65393198	65393198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:65393198G>A	ENST00000355703.3	+	19	3750	c.3211G>A	c.(3211-3213)Gtc>Atc	p.V1071I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1071						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCCAGCACCGTCTTTATTGC	0.627000											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	0.307466	0	0
ZNF510	22869	broad.mit.edu	37	9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358000													29	67					0	0	0.717897	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299900	145299900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:145299900C>G	ENST00000342960.5	+	6	984	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Missense_Mutation_p.Q46E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	317										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGTCCGG	0.428000													22	134					0	0	0.769981	0	0
LPHN3	23284	broad.mit.edu	37	4	62598970	62598970	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr4:62598970A>T	ENST00000512091.1	+	7	1640	c.893A>T	c.(892-894)gAa>gTa	p.E298V	LPHN3_ENST00000504896.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514157.1_Missense_Mutation_p.E298V|LPHN3_ENST00000507625.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506720.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506700.1_Missense_Mutation_p.E298V|LPHN3_ENST00000545650.1_Missense_Mutation_p.E298V|LPHN3_ENST00000511324.1_Missense_Mutation_p.E366V|LPHN3_ENST00000509896.1_Missense_Mutation_p.E366V|LPHN3_ENST00000514591.1_Missense_Mutation_p.E298V|LPHN3_ENST00000506746.1_Missense_Mutation_p.E366V|LPHN3_ENST00000507164.1_Missense_Mutation_p.E366V|LPHN3_ENST00000508946.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514996.1_Missense_Mutation_p.E298V|LPHN3_ENST00000508693.1_Missense_Mutation_p.E366V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	298	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACGGATCGAAGGAACATGG	0.393000													8	37					0	0	0.307466	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508605	106508605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:106508605C>T	ENST00000359195.3	+	2	909	c.599C>T	c.(598-600)cCg>cTg	p.P200L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P200L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P200L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	200					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCATGCACCCGTGGGTGACG	0.622000													15	50					0	0	0.479597	0	0
LONP1	9361	broad.mit.edu	37	19	5699115	5699115	+	Silent	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:5699115G>A	ENST00000360614.3	-	10	1765	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	LONP1_ENST00000540670.2_Silent_p.I340I|LONP1_ENST00000590729.1_Silent_p.I406I|LONP1_ENST00000585374.1_Silent_p.I422I|LONP1_ENST00000593119.1_Silent_p.I472I	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	536					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGCGCGGGCGATGGAGCGAG	0.632000													17	71					0	0	0.539581	0	0
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGATTTCGAGTGAGCCA	0.408000										TSP Lung(27;0.18)			13	26					0	0	0.457914	0	0
CTDP1	9150	broad.mit.edu	37	18	77489013	77489013	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr18:77489013G>C	ENST00000299543.7	+	11	2671	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	CTDP1_ENST00000075430.7_Intron	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	842					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CAGTATGTCTGAGACAATGCC	0.592000													4	189					0	0	0.150653	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:21771560A>G	ENST00000206660.6	+	5	658	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220V|RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403000													9	24					0	0	0.335167	0	0
FMN2	56776	broad.mit.edu	37	1	240370958	240370958	+	Missense_Mutation	SNP	C	C	G	rs6143701		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:240370958C>G	ENST00000319653.9	+	5	3076	c.2846C>G	c.(2845-2847)cCc>cGc	p.P949R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	949	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCCGGAGCGGCA	0.697000													5	20					0	0	0.248553	0	0
ANKH	56172	broad.mit.edu	37	5	14716914	14716914	+	Missense_Mutation	SNP	C	C	T	rs148228793		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:14716914C>T	ENST00000284268.6	-	9	1372	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	ANKH_ENST00000535119.1_Missense_Mutation_p.V150M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	348					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.V348M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCAGACACGTTGGGTGTC	0.463000													8	23					0	0	0.278610	0	0
HRNR	388697	broad.mit.edu	37	1	152192700	152192700	+	Missense_Mutation	SNP	C	C	G	rs147754674		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:152192700C>G	ENST00000368801.2	-	3	1480	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	469					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567000													42	109					0	0	0.834066	0	0
PDIK1L	149420	broad.mit.edu	37	1	26448944	26448944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:26448944A>G	ENST00000374271.4	+	4	1189	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDIK1L_ENST00000374269.1_Missense_Mutation_p.N301S	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	301	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCTATGAATGGGCGAATG	0.398000													21	45					0	0	0.592651	0	0
FPGT	8790	broad.mit.edu	37	1	74671407	74671407	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:74671407A>G	ENST00000370898.2	+	4	1713	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Y305C|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CTGAATAGCTATAAGTTGCTG	0.338000													17	43					0	0	0.520397	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	26					0	0	0.115264	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	168					0	0	0.184627	0	0
GPR149	344758	broad.mit.edu	37	3	154055685	154055685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr3:154055685C>T	ENST00000389740.2	-	4	2098	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGTTTCCCCTAGGTCACAT	0.438000													4	143					0	0	0.150653	0	0
MED14	9282	broad.mit.edu	37	X	40511065	40511065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chrX:40511065C>T	ENST00000324817.1	-	31	4476	c.4358G>A	c.(4357-4359)cGt>cAt	p.R1453H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1453					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTATGGACGCCCACCAGG	0.388000													3	3					0	0	0.115264	0	0
HMGCR	3156	broad.mit.edu	37	5	74655134	74655134	+	Splice_Site	SNP	A	A	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr5:74655134A>G	ENST00000287936.4	+	17	2453	c.2298_splice	c.e17+1	p.Q766_splice	HMGCR_ENST00000511206.1_Splice_Site_p.Q766_splice|HMGCR_ENST00000343975.5_Splice_Site_p.Q713_splice	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	766	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCCTGTGGACAGGTGAGCTCT	0.453000													12	33					0	0	0.387290	0	0
UBE4A	9354	broad.mit.edu	37	11	118243810	118243810	+	Missense_Mutation	SNP	A	A	C	rs111254610		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:118243810A>C	ENST00000252108.3	+	7	862	c.731A>C	c.(730-732)gAt>gCt	p.D244A	UBE4A_ENST00000431736.2_Missense_Mutation_p.D251A	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	244					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.D251A(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GATTTTGAAGATGTAACTGAG	0.333000													11	24					0	0	0.361761	0	0
FCRLB	127943	broad.mit.edu	37	1	161697178	161697178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:161697178C>T	ENST00000367948.2	+	8	1222	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	FCRLB_ENST00000367946.3_Missense_Mutation_p.P288S|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S336F|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P281S|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	336						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AACACCACCTCCACCGGGCTG	0.692000													16	30					0	0	0.479597	0	0
GLYAT	10249	broad.mit.edu	37	11	58478154	58478154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr11:58478154G>A	ENST00000344743.3	-	5	538	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L133F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L133F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	133					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCCATATAGAGAATGCGTTGT	0.428000													32	87					0	0	0.769981	0	0
AGMO	392636	broad.mit.edu	37	7	15599868	15599868	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr7:15599868A>T	ENST00000342526.3	-	2	324	c.155T>A	c.(154-156)cTg>cAg	p.L52Q		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	52					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGTTCAAGCAGCATCAAAGA	0.408000													18	47					0	0	0.557998	0	0
IL16	3603	broad.mit.edu	37	15	81592385	81592385	+	Silent	SNP	G	G	A	rs142057384		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:81592385G>A	ENST00000394660.2	+	14	3078	c.2718G>A	c.(2716-2718)tcG>tcA	p.S906S	IL16_ENST00000302987.4_Silent_p.S906S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S205S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	906			S -> L (in dbSNP:rs17875513).		immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TACTGTCCTCGGGGTCCCCTG	0.647000													3	78					0	0	0.115264	0	0
CACNA1E	777	broad.mit.edu	37	1	181701838	181701838	+	Silent	SNP	C	C	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:181701838C>T	ENST00000526775.1	+	19	2724	c.2559C>T	c.(2557-2559)acC>acT	p.T853T	CACNA1E_ENST00000367567.4_Silent_p.T479T|CACNA1E_ENST00000367573.2_Silent_p.T872T|CACNA1E_ENST00000357570.5_Silent_p.T823T|CACNA1E_ENST00000358338.5_Silent_p.T804T|CACNA1E_ENST00000360108.3_Silent_p.T853T|CACNA1E_ENST00000367570.1_Silent_p.T872T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	872					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						ACCAGAGGACCCCTTTGTCCC	0.672000													10	14					0	0	0.361761	0	0
POLR3C	10623	broad.mit.edu	37	1	145608112	145608113	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:145608112_145608113insA	ENST00000334163.3	-	4	744_745	c.584_585insT	c.(583-585)tatfs	p.Y195fs	POLR3C_ENST00000369294.1_Frame_Shift_Ins_p.Y195fs|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	195					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCTTACCTATCAAGCTGAGTTT	0.426													23	65	---	---	---	---					
CR1	1378	broad.mit.edu	37	1	207741172	207741172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr1:207741172delT	ENST00000367049.4	+	25	3956	c.3956delT	c.(3955-3957)acfs	p.I1319fs	CR1_ENST00000367051.1_Frame_Shift_Del_p.I869fs|CR1_ENST00000400960.2_Frame_Shift_Del_p.I869fs|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Frame_Shift_Del_p.I869fs	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	869	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTAGAAATCTTTTGTCCA	0.408													18	47	---	---	---	---					
COL21A1	81578	broad.mit.edu	37	6	56047356	56047357	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr6:56047356_56047357delAC	ENST00000244728.5	-	2	457_458	c.60_61delGT	c.(58-63)gttafs	p.VL20fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.VL20fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.VL20fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	20					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTTCAGCTAACACAGAATTCT	0.347													6	9	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													2	4	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													11	185	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													8	413	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													4	4	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003295	42003297	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr15:42003295_42003297delCAT	ENST00000219905.7	+	8	3013_3015	c.2832_2834delCAT	c.(2830-2835)ggc>gg	p.GI944del	MGA_ENST00000389936.4_In_Frame_Del_p.GI944del|MGA_ENST00000570161.1_In_Frame_Del_p.GI944del|MGA_ENST00000566586.1_In_Frame_Del_p.GI944del|MGA_ENST00000545763.1_In_Frame_Del_p.GI944del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	944						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTCAGGCATCATCTCAGAA	0.384													48	93	---	---	---	---					
EMC10	284361	broad.mit.edu	37	19	50985131	50985132	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5976-01A-11D-1683-08	TCGA-CV-5976-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b643ce3-43bc-4a14-942a-0d6fcffa0312	2a7557e4-67ae-450b-be12-566874b58886	g.chr19:50985131_50985132insG	ENST00000376918.3	+	7	738_739	c.692_693insG	c.(691-693)cggfs	p.R231fs	EMC10_ENST00000598585.1_Intron|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Intron	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10									p.A234fs*56(1)									CACATCATCCTGGGGGGGGCCG	0.738													5	9	---	---	---	---					
