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
IGHG4	3503	broad.mit.edu	37	14	106092259	106092259	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:106092259C>T	ENST00000390543.2	-	0	144																											GTGTGCACGCCGCTGGTCAGG	0.652000													9	65					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361486	97361486	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642000													7	14					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21515965	21515965	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:21515965G>A	ENST00000425654.2	+	7	1221		c.e7+1		CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308000													15	8					0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413000													33	63					0	0	1	0	0
ADM2	79924	broad.mit.edu	37	22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697000													11	7					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633852	70633852	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:70633852A>T	ENST00000381269.2	-	2	2041	c.1288T>A	c.(1288-1290)Tat>Aat	p.Y430N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	430	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTCCACATACATGGTCTTT	0.522000													74	102					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418000										HNSCC(36;0.09)			35	63					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17256382	17256382	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	131					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697000													2	2					0.115264	0.115264	1	1	0
PMVK	10654	broad.mit.edu	37	1	154898884	154898884	+	Missense_Mutation	SNP	G	G	A	rs150445298		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:154898884G>A	ENST00000368467.3	-	4	693	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTACAACGCGGACCGTCTGC	0.622000													4	62					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632000													30	85					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368453	45368453	+	Missense_Mutation	SNP	C	C	T	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:45368453C>T	ENST00000571680.1	+	9	1268	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice|ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542000													36	56					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143745934	143745934	+	RNA	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706000													8	6					1.26484e-09	1.35519e-09	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159655239	159655239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:159655239C>A	ENST00000297267.9	+	11	3895	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1232						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTTGCCCCTCGCGGAGGG	0.697000													4	10					0.014758	0.014848	1	1	0
SERPINI1	5274	broad.mit.edu	37	3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338000													68	221					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438000													104	633					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972595	32972595	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:32972595A>T	ENST00000544455.1	+	27	10172	c.9945A>T	c.(9943-9945)aaA>aaT	p.K3315N	BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3315					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAGAAAAAAGAACTGAATT	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			34	51					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383000													41	113					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371726	108371726	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P|SORCS1_ENST00000369698.1_Silent_p.P527P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483000													24	27					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318000													22	61					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:95610231C>T	ENST00000395505.2	-	3	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428000													33	121					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677000													15	36					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689626	88689626	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657000													24	20					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088330	32088330	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:32088330G>T	ENST00000438447.1	+	20	5164	c.4776G>T	c.(4774-4776)tcG>tcT	p.S1592S	PDZD2_ENST00000282493.3_Silent_p.S1592S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1592					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGATCCTTCGGAGTCAGAAG	0.577000													47	102					1.47857e-17	1.67099e-17	1	1	0
MORC1	27136	broad.mit.edu	37	3	108773582	108773582	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:108773582G>T	ENST00000232603.5	-	14	1405	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000483760.1_Silent_p.T441T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	441					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373000													43	118					7.05121e-23	8.13601e-23	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106091490	106091490	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:106091490C>T	ENST00000390543.2	-	0	403																											CTCAGGGGTCCGGGAGATCAT	0.592000													35	192					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652000													29	45					1.77063e-15	1.97402e-15	1	1	0
KTN1	3895	broad.mit.edu	37	14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:56142559G>C	ENST00000416613.1	+	40	3850	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368000			T	RET	papillary thryoid								26	47					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438000													34	43					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562303	52562303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:52562303C>T	ENST00000307076.4	-	6	956	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	186							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGAAGATGTCCATGAACTGC	0.572000													4	55					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363000													35	30					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:36614195T>A	ENST00000311485.3	-	2	1685	c.1524A>T	c.(1522-1524)aaA>aaT	p.K508N		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	508					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCCAGAACCTTTTTTACGGA	0.393000									Familial Hemophagocytic Lymphohistiocytosis				4	43					0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602000													26	42					4.59853e-10	4.9592e-10	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86913313	86913313	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493000													63	105					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	32					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388818	1388818	+	Silent	SNP	A	A	T	rs71299249	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:1388818A>T	ENST00000324803.4	+	1	3479	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACGTGCCCATGTGGAGTGC	0.682000													4	14					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475051	140475051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475051G>A	ENST00000194155.4	+	1	825	c.677G>A	c.(676-678)gGc>gAc	p.G226D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCCGGCACGGCCCTG	0.582000													11	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:179484368C>G	ENST00000589042.1	-	250	46900	c.46676G>C	c.(46675-46677)aGa>aCa	p.R15559T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13918	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTAGCTCTGGCTTCTTT	0.373000													43	75					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:70667725T>C	ENST00000260126.3	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358000													28	49					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205156	56205156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr18:56205156C>T	ENST00000361673.3	-	5	2476	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	755							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGAGAACACACCTGGGGAC	0.502000													6	121					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652000													47	22					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517000													48	252					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109016914	109016914	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:109016914C>A	ENST00000388962.3	-	3	1299	c.1140G>T	c.(1138-1140)ccG>ccT	p.P380P	SELPLG_ENST00000228463.6_Silent_p.P406P|SELPLG_ENST00000550948.1_Silent_p.P390P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642000													20	8					8.00594e-06	8.30805e-06	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458000													106	247					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	15					1.5739e-10	1.70851e-10	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542000													59	157					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	27					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358000													5	6					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438000													36	27					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91178026	91178026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:91178026G>A	ENST00000370445.4	-	3	1048	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	336						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTGTACATGGCAGCGGCAGC	0.647000													7	15					0	0	1	0	0
SLF2	55719	broad.mit.edu	37	10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:102684308A>G	ENST00000238961.3	+	5	1698	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517																	CATTCTACAGAATCCACCAAA	0.393000													70	82					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398000													19	50					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617000													30	53					2.68265e-12	2.95092e-12	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26242142	26242142	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:26242142C>G	ENST00000335473.7	+	19	3694	c.3444C>G	c.(3442-3444)ggC>ggG	p.G1148G	MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667000													9	15					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCCAGCTCTCGGGCACTGCAC	0.463000													72	152					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413000													56	41					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80401777	80401777	+	Silent	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:80401777G>C	ENST00000336995.7	-	6	669	c.222C>G	c.(220-222)ccC>ccG	p.P74P	C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000585064.1_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGCACACCGGGAATGTGCC	0.706000													8	168					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739124	164739124	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:164739124G>T	ENST00000264382.3	-	27	3209	c.3147C>A	c.(3145-3147)aaC>aaA	p.N1049K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1049	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGTTGGAATGTTTAACGGTA	0.368000										HNSCC(35;0.089)			402	263					3.03833e-170	3.58088e-170	1	1	0
NOXA1	10811	broad.mit.edu	37	9	140327703	140327703	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327703C>T	ENST00000341349.2	+	10	1077	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NOXA1_ENST00000392815.2_Silent_p.P243P	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	299			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GTGAGGACCCCGCGGGTGCTG	0.652000													4	13					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642000													32	83					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475050	140475050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475050G>T	ENST00000194155.4	+	1	824	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCT	0.582000													11	27					4.68919e-08	4.95972e-08	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90767686	90767686	+	Missense_Mutation	SNP	C	C	T	rs150270537		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:90767686C>T	ENST00000354366.3	-	7	1674	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GCCAGCCTGCCGCAGAAAGTG	0.517000													21	31					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652000													8	15					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629946	47629946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:47629946T>C	ENST00000546455.1	+	4	1831	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S					PC-esterase domain containing 1B																		CATGCAGGTTTCTTCGTCGAA	0.522000													58	168					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117347	53117347	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V			P51522	ZNF83_HUMAN	zinc finger protein 83	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353000													28	24					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61859022	61859022	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000577730.1_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458000													31	84					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774779	151774779	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597000													82	89					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378000													55	54					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140327704	140327704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327704G>T	ENST00000341349.2	+	10	1078	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	300			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		TGAGGACCCCGCGGGTGCTGG	0.652000													4	13					0.00024832	0.000254489	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	82					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557000													24	41					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:163387C>T	ENST00000606975.1	-	0	534																											CACAGCCTGTCTGATCTGGTG	0.468000													4	23					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577000													26	60					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749187	25749187	+	RNA	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:25749187G>A	ENST00000586223.1	+	0	1088					NR_033892.1																						GAGTGTATAAGGGCATTCCCA	0.498000													7	25					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:114173351T>G	ENST00000259335.4	-	23	2819	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418000													199	180					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019475	74019475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672000													38	54					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCCGGTGCTATTTCCATG	0.458000													21	59					2.70639e-06	2.8263e-06	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171810	68171810	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498000													29	62					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231221	7231221	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:7231221G>A	ENST00000379938.2	+	10	3426	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632000													12	4					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443000													37	53					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68729736	68729736	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000429102.2_Silent_p.L730L|CDH3_ENST00000581171.1_Silent_p.L675L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582000													48	56					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684252	41684252	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478000													16	42					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													37	38					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602000													44	92					0	0	1	0	0
RNF24	11237	broad.mit.edu	37	20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:3914726G>A	ENST00000336095.5	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562000													55	88					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron|SKIL_ENST00000259119.4_Missense_Mutation_p.K440R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	440					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398000													52	426					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	546	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353000													57	80					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41557787	41557787	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:41557787G>A	ENST00000373060.1	+	11	1694	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	FOXP4_ENST00000409208.1_Silent_p.P400P|FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000373057.3_Silent_p.P410P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	412					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCCCCGACCTCGGCCG	0.672000													4	48					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483000													17	29					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					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						GCCTGAATGTCCCTATGGACC	0.423000													38	95					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393621	164393621	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478000													36	21					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420628	49420628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:49420628C>T	ENST00000301067.7	-	48	15120	c.15121G>A	c.(15121-15123)Ggg>Agg	p.G5041R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAGTGGCCCCGTCACCCTCC	0.607000													31	89					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383000									Kartagener syndrome				38	66					1.57019e-19	1.78677e-19	1	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50475259	50475259	+	RNA	SNP	G	G	C	rs12463036	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:50475259G>C	ENST00000602139.1	+	0	1205									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TGGGGTCCTGGAGCTGCCTCG	0.672000													2	5					0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428000													33	53					9.65021e-13	1.06865e-12	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68696742	68696742	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622000													41	100					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512000													37	70					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56167806	56167806	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428000													34	29					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572000													137	40					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129146962	129146962	+	Missense_Mutation	SNP	C	C	T	rs141901231	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:129146962C>T	ENST00000540052.1	+	3	258	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000488135.1_3'UTR	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGA	0.567000													6	99					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811475	23811475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617000													23	30					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567000													34	24					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:53233376A>G	ENST00000535397.1	+	6	525	c.152A>G	c.(151-153)aAa>aGa	p.K51R	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249000													17	23					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598207	49598207	+	RNA	SNP	T	T	C	rs71479502	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:49598207T>C	ENST00000527477.1	+	0	811																											TCCTCTTCCTTCTGCTCCAAG	0.502000													3	30					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587000													58	99					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:7578553T>C	ENST00000420246.2	-	5	509	c.375_splice	c.e5-1	p.Y126_splice	TP53_ENST00000413465.2_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(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)		GGCAGGGGAGTACTGTAGGAA	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)			22	12					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104314	142104314	+	RNA	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:142104314A>T	ENST00000390379.1	-	0	150																											TACCAGGACAAGTATCCATGG	0.512000													84	100					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607000													148	54					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337236	102337236	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532000													8	109					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393000													43	165					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12975624	12975624	+	Splice_Site	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1366_splice	c.e13-1	p.G456_splice		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	456	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537000													21	45					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72998278	72998278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:72998278C>T	ENST00000337231.5	+	4	873	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	154												all_lung(278;0.226)					CGCAGGCGTACCATCCACACC	0.647000													4	13					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488000										HNSCC(54;0.14)			19	47					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552000													87	138					1.02218e-41	1.19617e-41	1	1	0
SAP130	79595	broad.mit.edu	37	2	128775458	128775458	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:128775458G>A	ENST00000357702.5	-	3	353	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498000													31	52					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:58834054T>C	ENST00000414170.3	+	4	631	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652000													14	11					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433000													55	99					4.88482e-21	5.59719e-21	1	1	0
PAFAH2	5051	broad.mit.edu	37	1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468000													24	28					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557000													10	5					2.17888e-05	2.24697e-05	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:17407860T>C	ENST00000470360.1	+	7	986	c.869T>C	c.(868-870)aTg>aCg	p.M290T	SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448000													31	10					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	381										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537000													15	35					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458000													4	32					0.014758	0.014848	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180397180	180397180	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:180397180G>C	ENST00000442201.2	-	0	108				CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTGCAAACGGATAGAGAAGA	0.582000													45	450					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	284					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328000								Other identified genes with known or suspected DNA repair function					24	73					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000228327.6_Missense_Mutation_p.S80R|NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413000										HNSCC(70;0.22)			61	24					3.36121e-32	3.90563e-32	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76555134	76555134	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:76555134T>C	ENST00000307431.8	+	17	2845	c.2460T>C	c.(2458-2460)ttT>ttC	p.F820F	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.F824F|CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000377504.4_Silent_p.F772F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408000													79	249					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2384					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498000													26	17					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127715225C>T	ENST00000336505.5	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358000													43	43					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567000													70	31					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106092259	106092259	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:106092259C>T	ENST00000390543.2	-	0	144																											GTGTGCACGCCGCTGGTCAGG	0.652000													9	65					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361486	97361486	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642000													7	14					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21515965	21515965	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:21515965G>A	ENST00000425654.2	+	7	1221		c.e7+1		CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308000													15	8					0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413000													33	63					0	0	1	0	0
ADM2	79924	broad.mit.edu	37	22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000395737.1_Missense_Mutation_p.S96L|ADM2_ENST00000362068.2_Missense_Mutation_p.R13W	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697000													11	7					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418000										HNSCC(36;0.09)			35	63					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17256382	17256382	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	131					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697000													2	2					0.115264	0.115264	1	1	0
PMVK	10654	broad.mit.edu	37	1	154898884	154898884	+	Missense_Mutation	SNP	G	G	A	rs150445298		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:154898884G>A	ENST00000368467.3	-	4	693	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTACAACGCGGACCGTCTGC	0.622000													4	62					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632000													30	85					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368453	45368453	+	Missense_Mutation	SNP	C	C	T	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:45368453C>T	ENST00000571680.1	+	9	1268	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000560629.1_Splice_Site_p.H408_splice|ITGB3_ENST00000559488.1_Splice_Site_p.T420_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T373_splice			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542000													36	56					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684252	41684252	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478000													16	42					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	27					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143745934	143745934	+	RNA	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706000													8	6					1.26484e-09	1.3647e-09	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159655239	159655239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:159655239C>A	ENST00000297267.9	+	11	3895	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1169H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1232						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTTGCCCCTCGCGGAGGG	0.697000													4	10					0.014758	0.0148485	1	1	0
SERPINI1	5274	broad.mit.edu	37	3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338000													68	221					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438000													104	633					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972595	32972595	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:32972595A>T	ENST00000544455.1	+	27	10172	c.9945A>T	c.(9943-9945)aaA>aaT	p.K3315N	BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3315					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAGAAAAAAGAACTGAATT	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			34	51					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383000													41	113					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371726	108371726	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000369698.1_Silent_p.P527P|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483000													24	27					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R|FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318000													22	61					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140245541	140245541	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140245541A>G	ENST00000340951.4	-	14	1638	c.1443T>C	c.(1441-1443)caT>caC	p.H481H	EXD3_ENST00000342129.4_Silent_p.H161H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	481					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTTCTCCACATGGGCCAGGG	0.672000													6	6					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:95610231C>T	ENST00000395505.2	-	3	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000375495.3_Missense_Mutation_p.E280K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428000													33	121					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677000													15	36					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689626	88689626	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657000													24	20					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108773582	108773582	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:108773582G>T	ENST00000232603.5	-	14	1405	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000483760.1_Silent_p.T441T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	441					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373000													43	118					7.05121e-23	8.14365e-23	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106091490	106091490	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:106091490C>T	ENST00000390543.2	-	0	403																											CTCAGGGGTCCGGGAGATCAT	0.592000													35	192					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652000													29	45					1.77063e-15	1.98893e-15	1	1	0
KTN1	3895	broad.mit.edu	37	14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:56142559G>C	ENST00000416613.1	+	40	3850	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000395314.3_Missense_Mutation_p.A1260P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368000			T	RET	papillary thryoid								26	47					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438000													34	43					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562303	52562303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:52562303C>T	ENST00000307076.4	-	6	956	c.556G>A	c.(556-558)Gac>Aac	p.D186N	NT5DC2_ENST00000307092.4_Missense_Mutation_p.D127N|NT5DC2_ENST00000422318.2_Missense_Mutation_p.D223N|NT5DC2_ENST00000459839.1_Missense_Mutation_p.D198N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	186							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAGAAGATGTCCATGAACTGC	0.572000													4	55					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363000													35	30					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:36614195T>A	ENST00000311485.3	-	2	1685	c.1524A>T	c.(1522-1524)aaA>aaT	p.K508N		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	508					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCCAGAACCTTTTTTACGGA	0.393000									Familial Hemophagocytic Lymphohistiocytosis				4	43					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458473	248458473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:248458473C>T	ENST00000317996.1	-	1	407	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGCACAGCTGCCAGCTCATGA	0.607000													25	31					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86913313	86913313	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493000													63	105					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	32					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388818	1388818	+	Silent	SNP	A	A	T	rs71299249	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:1388818A>T	ENST00000324803.4	+	1	3479	c.519A>T	c.(517-519)ccA>ccT	p.P173P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACACGTGCCCATGTGGAGTGC	0.682000													4	14					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475051	140475051	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140475051G>A	ENST00000194155.4	+	1	825	c.677G>A	c.(676-678)gGc>gAc	p.G226D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCCGGCACGGCCCTG	0.582000													11	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:179484368C>G	ENST00000589042.1	-	250	46900	c.46676G>C	c.(46675-46677)aGa>aCa	p.R15559T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13918T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13918	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTAGCTCTGGCTTCTTT	0.373000													43	75					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:70667725T>C	ENST00000260126.3	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358000													28	49					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205156	56205156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr18:56205156C>T	ENST00000361673.3	-	5	2476	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	755							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGAGAACACACCTGGGGAC	0.502000													6	121					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652000													47	22					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517000													48	252					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109016914	109016914	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:109016914C>A	ENST00000388962.3	-	3	1299	c.1140G>T	c.(1138-1140)ccG>ccT	p.P380P	SELPLG_ENST00000550948.1_Silent_p.P390P|SELPLG_ENST00000228463.6_Silent_p.P406P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642000													20	8					8.00594e-06	8.4165e-06	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458000													106	247					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	15					1.5739e-10	1.72079e-10	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542000													59	157					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358000													5	6					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438000													36	27					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													3	27					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91178026	91178026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:91178026G>A	ENST00000370445.4	-	3	1048	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	336						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCTGTACATGGCAGCGGCAGC	0.647000													7	15					0	0	1	0	0
SLF2	55719	broad.mit.edu	37	10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr10:102684308A>G	ENST00000238961.3	+	5	1698	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517																	CATTCTACAGAATCCACCAAA	0.393000													70	82					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398000													19	50					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617000													30	53					2.68265e-12	2.97267e-12	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26242142	26242142	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:26242142C>G	ENST00000335473.7	+	19	3694	c.3444C>G	c.(3442-3444)ggC>ggG	p.G1148G	MYO18B_ENST00000407587.2_Silent_p.G1149G|MYO18B_ENST00000536101.1_Silent_p.G1148G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667000													9	15					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TCCAGCTCTCGGGCACTGCAC	0.463000													72	152					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	11					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413000													56	41					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80401777	80401777	+	Silent	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:80401777G>C	ENST00000336995.7	-	6	669	c.222C>G	c.(220-222)ccC>ccG	p.P74P	C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000578919.1_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000577732.1_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000585064.1_3'UTR			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGCACACCGGGAATGTGCC	0.706000													8	168					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140327703	140327703	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140327703C>T	ENST00000341349.2	+	10	1077	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NOXA1_ENST00000392815.2_Silent_p.P243P	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	299			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GTGAGGACCCCGCGGGTGCTG	0.652000													4	13					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642000													32	83					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475050	140475050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140475050G>T	ENST00000194155.4	+	1	824	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		226	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCT	0.582000													11	27					4.68919e-08	5.02632e-08	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90767686	90767686	+	Missense_Mutation	SNP	C	C	T	rs150270537		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:90767686C>T	ENST00000354366.3	-	7	1674	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GCCAGCCTGCCGCAGAAAGTG	0.517000													21	31					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652000													8	15					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629946	47629946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:47629946T>C	ENST00000546455.1	+	4	1831	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S					PC-esterase domain containing 1B																		CATGCAGGTTTCTTCGTCGAA	0.522000													58	168					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117347	53117347	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.V157V|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V			P51522	ZNF83_HUMAN	zinc finger protein 83	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353000													28	24					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61859022	61859022	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000299345.6_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000577730.1_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458000													31	84					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774779	151774779	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597000													82	89					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378000													55	54					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140327704	140327704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:140327704G>T	ENST00000341349.2	+	10	1078	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	300			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		TGAGGACCCCGCGGGTGCTGG	0.652000													4	13					0.00024832	0.000256129	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	82					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557000													24	41					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163387	163387	+	RNA	SNP	C	C	T	rs3008286	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:163387C>T	ENST00000606975.1	-	0	534																											CACAGCCTGTCTGATCTGGTG	0.468000													4	23					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577000													26	60					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749187	25749187	+	RNA	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:25749187G>A	ENST00000586223.1	+	0	1088					NR_033892.1																						GAGTGTATAAGGGCATTCCCA	0.498000													7	25					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:114173351T>G	ENST00000259335.4	-	23	2819	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	KIAA0368_ENST00000338205.5_Missense_Mutation_p.K762N	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418000													199	180					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019475	74019475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672000													38	54					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCCGGTGCTATTTCCATG	0.458000													21	59					2.70639e-06	2.86354e-06	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171810	68171810	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498000													29	62					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231221	7231221	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:7231221G>A	ENST00000379938.2	+	10	3426	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379933.3_Silent_p.A963A|RREB1_ENST00000349384.6_Silent_p.A963A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632000													12	4					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443000													37	53					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68729736	68729736	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582000													48	56					0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602000													26	42					4.59853e-10	4.99443e-10	1	1	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													37	38					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602000													44	92					0	0	1	0	0
RNF24	11237	broad.mit.edu	37	20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:3914726G>A	ENST00000336095.5	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.1_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562000													55	88					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	440					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398000													52	426					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	546	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353000													57	80					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41557787	41557787	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr6:41557787G>A	ENST00000373060.1	+	11	1694	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	FOXP4_ENST00000307972.4_Silent_p.P412P|FOXP4_ENST00000373057.3_Silent_p.P410P|FOXP4_ENST00000373063.3_Silent_p.P399P|FOXP4_ENST00000409208.1_Silent_p.P400P	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	412					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCACCCCCCGACCTCGGCCG	0.672000													4	48					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483000													17	29					0	0	1	0	0
APLF	200558	broad.mit.edu	37	2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					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						GCCTGAATGTCCCTATGGACC	0.423000													38	95					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393621	164393621	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478000													36	21					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420628	49420628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:49420628C>T	ENST00000301067.7	-	48	15120	c.15121G>A	c.(15121-15123)Ggg>Agg	p.G5041R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAGTGGCCCCGTCACCCTCC	0.607000													31	89					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383000									Kartagener syndrome				38	66					1.57019e-19	1.78828e-19	1	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50475259	50475259	+	RNA	SNP	G	G	C	rs12463036	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:50475259G>C	ENST00000602139.1	+	0	1205									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TGGGGTCCTGGAGCTGCCTCG	0.672000													2	5					0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428000													33	53					9.65021e-13	1.07662e-12	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68696742	68696742	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622000													41	100					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512000													37	70					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56167806	56167806	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428000													34	29					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572000													137	40					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129146962	129146962	+	Missense_Mutation	SNP	C	C	T	rs141901231	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:129146962C>T	ENST00000540052.1	+	3	258	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Missense_Mutation_p.R72W|BCORL1_ENST00000359304.2_Missense_Mutation_p.R72W|BCORL1_ENST00000303743.5_Missense_Mutation_p.R72W	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGA	0.567000													6	99					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811475	23811475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617000													23	30					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567000													34	24					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr13:53233376A>G	ENST00000535397.1	+	6	525	c.152A>G	c.(151-153)aAa>aGa	p.K51R	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.7_Missense_Mutation_p.K107R|SUGT1_ENST00000343788.6_Missense_Mutation_p.K107R			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249000													17	23					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598207	49598207	+	RNA	SNP	T	T	C	rs71479502	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:49598207T>C	ENST00000527477.1	+	0	811																											TCCTCTTCCTTCTGCTCCAAG	0.502000													3	30					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587000													58	99					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104314	142104314	+	RNA	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:142104314A>T	ENST00000390379.1	-	0	150																											TACCAGGACAAGTATCCATGG	0.512000													84	100					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000549903.1_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000261400.3_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607000													148	54					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337236	102337236	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.C190W	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532000													8	109					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393000													43	165					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12975624	12975624	+	Splice_Site	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1366_splice	c.e13-1	p.G456_splice		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	456	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537000													21	45					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72998278	72998278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:72998278C>T	ENST00000337231.5	+	4	873	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	154												all_lung(278;0.226)					CGCAGGCGTACCATCCACACC	0.647000													4	13					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488000										HNSCC(54;0.14)			19	47					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552000													87	138					1.02218e-41	1.19741e-41	1	1	0
SAP130	79595	broad.mit.edu	37	2	128775458	128775458	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:128775458G>A	ENST00000357702.5	-	3	353	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000259235.3_Silent_p.V74V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498000													31	52					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:58834054T>C	ENST00000414170.3	+	4	631	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000299022.5_Missense_Mutation_p.V115A|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Missense_Mutation_p.V115A			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652000													14	11					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433000													55	99					4.88482e-21	5.60218e-21	1	1	0
PAFAH2	5051	broad.mit.edu	37	1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468000													24	28					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557000													10	5					2.17888e-05	2.27602e-05	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:17407860T>C	ENST00000470360.1	+	7	986	c.869T>C	c.(868-870)aTg>aCg	p.M290T	SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T|SLC7A2_ENST00000494857.1_Missense_Mutation_p.M250T			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448000													31	10					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	381										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537000													15	35					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													4	60					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458000													4	32					0.014758	0.0148485	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180397180	180397180	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:180397180G>C	ENST00000442201.2	-	0	108				CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTGCAAACGGATAGAGAAGA	0.582000													45	450					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	284					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328000								Other identified genes with known or suspected DNA repair function					24	73					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413000										HNSCC(70;0.22)			61	24					3.36121e-32	3.90949e-32	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76555134	76555134	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:76555134T>C	ENST00000307431.8	+	17	2845	c.2460T>C	c.(2458-2460)ttT>ttC	p.F820F	CNTNAP4_ENST00000478060.1_Silent_p.F748F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.F772F|CNTNAP4_ENST00000476707.1_Silent_p.F824F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408000													79	249					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2384					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498000													26	17					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:127715225C>T	ENST00000336505.5	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358000													43	43					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567000													70	31					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-	rs146752637		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cfs	p.QLCNIPV1575fs	LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564													23	102	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													11	855	---	---	---	---					
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:69962284_69962290delTTTTGCT	ENST00000305231.7	+	1	92_98	c.46_52delTTTTGCT	c.(46-54)ttfs	p.FCF16fs	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAGCTCTGG	0.420													105	196	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7373015	7373015	+	RNA	DEL	T	T	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:7373015delT	ENST00000513219.1	-	0	172																											CTGATTGGTCTTCATCCAACA	0.458													2	4	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													7	9	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													7	528	---	---	---	---					
CALB2	794	broad.mit.edu	37	16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)ccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587													50	135	---	---	---	---					
ZNF791	163049	broad.mit.edu	37	19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tgfs	p.W47fs	ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318													26	15	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													11	21	---	---	---	---					
LTBP1	4052	broad.mit.edu	37	2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-	rs146752637		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cfs	p.QLCNIPV1575fs	LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs|LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564													23	102	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2554-2559)gaaaaafs	p.EK852fs	SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322													7	901	---	---	---	---					
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr4:69962284_69962290delTTTTGCT	ENST00000305231.7	+	1	92_98	c.46_52delTTTTGCT	c.(46-54)ttfs	p.FCF16fs	UGT2B7_ENST00000508661.1_Frame_Shift_Del_p.FCF16fs|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAGCTCTGG	0.420													105	196	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7373015	7373015	+	RNA	DEL	T	T	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr5:7373015delT	ENST00000513219.1	-	0	172																											CTGATTGGTCTTCATCCAACA	0.458													2	4	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494017	65494018	+	In_Frame_Ins	INS	-	-	GCA			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr8:65494017_65494018insGCA	ENST00000321870.1	+	1	1204_1205	c.670_671insGCA	c.(670-672)cgg>GCAcgg	p.223_224insA	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	223	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						tagcggcagcggcggcagcagc	0.723													4	5	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													9	110	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	6	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	9	---	---	---	---					
CALB2	794	broad.mit.edu	37	16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)ccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587													50	135	---	---	---	---					
ZNF791	163049	broad.mit.edu	37	19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tgfs	p.W47fs	ZNF791_ENST00000446165.1_Intron|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318													26	15	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													10	58	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													8	128	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	268e0e78-73a5-43f9-a25f-cd862c4438bd	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													11	21	---	---	---	---					
