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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
VPS13D	55187	broad.mit.edu	37	1	12418560	12418560	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:12418560G>T	uc001atv.2	+	50	10185	c.10044G>T	c.(10042-10044)CCG>CCT	p.P3348P	VPS13D_uc001atw.2_Silent_p.P3323P|VPS13D_uc001atx.2_Silent_p.P2535P	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3347					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCATGCCGGGCTGGTGTC	0.512		NA											39	17					3.55e-21	6.52e-21	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18808770	18808770	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:18808770T>C	uc001bax.2	+	1	1347	c.1295T>C	c.(1294-1296)CTG>CCG	p.L432P	KLHDC7A_uc009vpg.2_Missense_Mutation_p.L214P	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	432						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGATCTGGGCAATTGC	0.612		NA											72	40					0	0	0	0
HSPG2	3339	broad.mit.edu	37	1	22179293	22179293	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:22179293C>T	uc001bfj.2	-	52	6664	c.6624G>A	c.(6622-6624)GTG>GTA	p.V2208V	HSPG2_uc009vqd.2_Silent_p.V2209V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2208	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGCCGGGGTCACCTGGTGCA	0.657		NA											19	44					0	0	0	0
SEPN1	57190	broad.mit.edu	37	1	26138256	26138256	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:26138256C>T	uc010oer.1	+	11	1222	c.1167C>T	c.(1165-1167)CAC>CAT	p.H389H	SEPN1_uc010oes.1_Silent_p.H355H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	389						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACAGCCACCTGCCTTCAG	0.647		NA											4	17					0	0	0	0
FGR	2268	broad.mit.edu	37	1	27949593	27949593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:27949593T>A	uc001boj.2	-	2	435	c.289A>T	c.(289-291)ACC>TCC	p.T97S	FGR_uc001bok.2_Missense_Mutation_p.T97S|FGR_uc001bol.2_Missense_Mutation_p.T97S|FGR_uc001bom.2_Missense_Mutation_p.T97S	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	97	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGTGAAGGTGAGGTCATCC	0.463		NA											16	60					0	0	0	0
PTPRF	5792	broad.mit.edu	37	1	44054597	44054597	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44054597G>T	uc001cjr.2	+	8	1215	c.875G>T	c.(874-876)CGC>CTC	p.R292L	PTPRF_uc001cjs.2_Missense_Mutation_p.R292L|PTPRF_uc001cju.2_5'Flank|PTPRF_uc009vwt.2_5'Flank|PTPRF_uc001cjv.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	292	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AATGTCGTACGCTCTGCCAAC	0.597		NA											5	16					4.1e-09	6.64e-09	1	0
PTPRF	5792	broad.mit.edu	37	1	44058190	44058190	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058190C>G	uc001cjr.2	+	11	2071	c.1731C>G	c.(1729-1731)CTC>CTG	p.L577L	PTPRF_uc001cjs.2_Silent_p.L577L|PTPRF_uc001cju.2_Silent_p.L148L|PTPRF_uc009vwt.2_Silent_p.L148L|PTPRF_uc001cjv.2_Silent_p.L148L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	577	Extracellular (Potential).|Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGACACACTCTACCGCTTCC	0.602		NA											72	37					0	0	0	0
PTPRF	5792	broad.mit.edu	37	1	44058210	44058210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058210C>T	uc001cjr.2	+	11	2091	c.1751C>T	c.(1750-1752)GCA>GTA	p.A584V	PTPRF_uc001cjs.2_Missense_Mutation_p.A584V|PTPRF_uc001cju.2_Missense_Mutation_p.A155V|PTPRF_uc009vwt.2_Missense_Mutation_p.A155V|PTPRF_uc001cjv.2_Missense_Mutation_p.A155V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	584	Extracellular (Potential).|Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGGCTGCACGCTCGGAT	0.612		NA											50	32					0	0	0	0
SPATA6	54558	broad.mit.edu	37	1	48764465	48764465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:48764465C>A	uc001crr.1	-	13	1552	c.1387G>T	c.(1387-1389)GAG>TAG	p.E463*	SPATA6_uc001crs.1_Nonsense_Mutation_p.E447*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E449*	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	463					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						ATGCTGTTCTCAAAGATGGGT	0.468		NA											36	85					1.07e-15	1.9e-15	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74506982	74506982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:74506982G>C	uc001dfy.3	-	7	1825	c.1633C>G	c.(1633-1635)CTA>GTA	p.L545V	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	545										ovary(2)	2						TTCTCTTTTAGGACAGCCTCA	0.328		NA											16	48					0	0	0	0
MSH4	4438	broad.mit.edu	37	1	76365339	76365339	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:76365339C>G	uc001dhd.1	+	19	2608	c.2567C>G	c.(2566-2568)TCA>TGA	p.S856*		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	856					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						CTTCCACCATCAATTGTCTTG	0.303		NA						MMR					16	41					0	0	0	0
VCAM1	7412	broad.mit.edu	37	1	101200228	101200228	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:101200228A>G	uc001dti.2	+	8	2083	c.1963A>G	c.(1963-1965)ATC>GTC	p.I655V	VCAM1_uc001dtj.2_Missense_Mutation_p.I563V|VCAM1_uc010ouj.1_Missense_Mutation_p.I593V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	655	Ig-like C2-type 7.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCCTATACCATCCGAAAGGC	0.398		NA											23	17					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103444450	103444450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:103444450C>A	uc001dul.2	-	34	2993	c.2675G>T	c.(2674-2676)GGT>GTT	p.G892V	COL11A1_uc001duk.2_Missense_Mutation_p.G88V|COL11A1_uc001dum.2_Missense_Mutation_p.G904V|COL11A1_uc001dun.2_Missense_Mutation_p.G853V|COL11A1_uc009weh.2_Missense_Mutation_p.G776V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	892	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCTTGCACCTCTTGAACC	0.403		NA											38	25					8.69e-16	1.55e-15	1	0
C1orf103	55791	broad.mit.edu	37	1	111492660	111492660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:111492660G>T	uc001eaa.2	-	3	1938	c.1682C>A	c.(1681-1683)GCA>GAA	p.A561E	C1orf103_uc001dzz.2_Missense_Mutation_p.A25E|C1orf103_uc001eab.2_Missense_Mutation_p.A25E|C1orf103_uc001eac.1_Missense_Mutation_p.A25E	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		CAGATGTAATGCCTTATTACT	0.378		NA											13	24					5.51e-06	8.18e-06	1	0
TBX15	6913	broad.mit.edu	37	1	119474274	119474274	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:119474274A>C	uc001ehl.1	-	2	384	c.69T>G	c.(67-69)ATT>ATG	p.I23M		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	129	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTTCAGTTCCAATATCATGGA	0.493		NA											9	40					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368633	145368633	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:145368633G>T	uc001end.3	+	86	10871	c.10836G>T	c.(10834-10836)ACG>ACT	p.T3612T	NBPF9_uc010oye.1_Silent_p.T896T|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.T465T|NBPF10_uc010oyk.1_Silent_p.T253T|NBPF10_uc010oyl.1_Silent_p.T253T	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3537											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTACTTTGACGGTGACAAGTC	0.458		NA											7	521					1.64e-05	2.41e-05	1	0
GJA8	2703	broad.mit.edu	37	1	147380375	147380375	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:147380375A>T	uc001epu.1	+	2	356	c.293A>T	c.(292-294)CAC>CTC	p.H98L		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	98	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CACGCGGTGCACTACGTCCGC	0.652		NA											17	57					0	0	0	0
ECM1	1893	broad.mit.edu	37	1	150480696	150480696	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:150480696C>G	uc001eus.2	+	1	210	c.11C>G	c.(10-12)ACA>AGA	p.T4R	ECM1_uc010pce.1_5'UTR|ECM1_uc010pcf.1_5'UTR|ECM1_uc001eut.2_Missense_Mutation_p.T4R|ECM1_uc001euu.2_Missense_Mutation_p.T4R|ECM1_uc001euv.2_Missense_Mutation_p.T4R|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	4					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGGACCACAGCCAGAGCA	0.597		NA											28	55					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152188242	152188242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152188242C>A	uc001ezt.1	-	3	5939	c.5863G>T	c.(5863-5865)GGG>TGG	p.G1955W		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1955	22				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCAGACCCATGTCGGCCA	0.617		NA											9	750					0.00621372	0.00844057	1	0
FLG	2312	broad.mit.edu	37	1	152275869	152275869	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152275869A>T	uc001ezu.1	-	3	11529	c.11493T>A	c.(11491-11493)CAT>CAA	p.H3831Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3831	Filaggrin 23.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCTTCATGGTGACGCG	0.587		NA							Ichthyosis				100	340					0	0	0	0
S100A7	6278	broad.mit.edu	37	1	153430420	153430420	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:153430420G>T	uc001fbv.1	-	3	239	c.168C>A	c.(166-168)GCC>GCA	p.A56A		NM_002963	NP_002954	P31151	S10A7_HUMAN	S100 calcium binding protein A7	56	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			skin(1)	1	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGACATCGGCGAGGTAAT	0.413		NA											19	51					3.52e-12	5.95e-12	1	0
FMO3	2328	broad.mit.edu	37	1	171077253	171077253	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171077253G>T	uc001ghi.2	+	5	629	c.518G>T	c.(517-519)AGC>ATC	p.S173I	FMO3_uc001ghh.2_Missense_Mutation_p.S173I|FMO3_uc010pmb.1_Missense_Mutation_p.S153I|FMO3_uc010pmc.1_Missense_Mutation_p.S110I	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	173					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTTCCACAGCAGGGACTAT	0.438		NA											29	57					3.73e-12	6.31e-12	1	0
FMO2	2327	broad.mit.edu	37	1	171168602	171168602	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171168602T>G	uc001ghk.1	+	5	719	c.602T>G	c.(601-603)GTT>GGT	p.V201G	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	201					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATTGCTGTTGAGCTGAGT	0.498		NA											15	89					0	0	0	0
TDRD5	163589	broad.mit.edu	37	1	179620116	179620116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:179620116A>G	uc001gnf.1	+	12	2165	c.1915A>G	c.(1915-1917)ACA>GCA	p.T639A	TDRD5_uc010pnp.1_Missense_Mutation_p.T639A|TDRD5_uc001gnh.1_Missense_Mutation_p.T194A	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	639					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						TTTGTGTGACACATCCTCAAA	0.418		NA											23	67					0	0	0	0
FAM5C	339479	broad.mit.edu	37	1	190250824	190250824	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:190250824C>A	uc001gse.1	-	3	525	c.293G>T	c.(292-294)GGC>GTC	p.G98V	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	98						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CAGAGGAGAGCCAAGGAAATT	0.393		NA											20	23					4.97e-08	7.85e-08	1	0
PIGR	5284	broad.mit.edu	37	1	207105832	207105832	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207105832C>A	uc001hez.2	-	8	2161	c.1977G>T	c.(1975-1977)GGG>GGT	p.G659G	PIGR_uc009xbz.2_Silent_p.G659G	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	659	Helical; (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTCTGGCCACCCCCACAGCCA	0.647		NA											19	82					2.35e-11	3.94e-11	1	0
CR2	1380	broad.mit.edu	37	1	207648236	207648236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207648236T>A	uc001hfw.2	+	13	2308	c.2214T>A	c.(2212-2214)TTT>TTA	p.F738L	CR2_uc001hfv.2_Missense_Mutation_p.F797L|CR2_uc009xch.2_Missense_Mutation_p.F738L	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	738	Sushi 12.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CAGAAAACTTTCTATATGGAA	0.418		NA											24	83					0	0	0	0
FAM71A	149647	broad.mit.edu	37	1	212799980	212799980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:212799980G>T	uc001hjk.2	+	1	2165	c.1761G>T	c.(1759-1761)GAG>GAT	p.E587D	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	587										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACATCATGGAGACAGTGACCT	0.567		NA											27	112					3.65e-15	6.48e-15	1	0
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:216062110G>C	uc001hku.1	-	41	8268	c.7881C>G	c.(7879-7881)ATC>ATG	p.I2627M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2627	Extracellular (Potential).|Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498		NA								HNSCC(13;0.011)			17	52					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228554824	228554824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:228554824G>T	uc009xez.1	+	86	19620	c.19576G>T	c.(19576-19578)GGG>TGG	p.G6526W	OBSCN_uc001hsr.1_Missense_Mutation_p.G1155W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6526	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGGTCACGGGGCTGCTGGA	0.652		NA											4	15					3.6e-05	5.22e-05	1	0
KIAA1804	84451	broad.mit.edu	37	1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:233482322G>A	uc001hvt.3	+	2	1201	c.940G>A	c.(940-942)GAA>AAA	p.E314K	KIAA1804_uc001hvs.1_Missense_Mutation_p.E314K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	314	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GATGGCCCCCGAAGTGATCAA	0.473		NA											5	26					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237796940	237796940	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:237796940A>T	uc001hyl.1	+	43	6738	c.6618A>T	c.(6616-6618)ATA>ATT	p.I2206I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2206	Cytoplasmic (By similarity).|4 X approximate repeats.				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCTGTCGTATAAGTAGGCAGA	0.373		NA											49	125					0	0	0	0
KIF26B	55083	broad.mit.edu	37	1	245530230	245530230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:245530230G>C	uc001ibf.1	+	3	1000	c.560G>C	c.(559-561)TGC>TCC	p.C187S	KIF26B_uc010pyq.1_Missense_Mutation_p.C187S|KIF26B_uc010pyr.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACATTTGCGCCACTCAC	0.602		NA											8	34					0	0	0	0
ZNF670	93474	broad.mit.edu	37	1	247200823	247200823	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247200823T>A	uc001icd.1	-	4	1269	c.1098A>T	c.(1096-1098)GAA>GAT	p.E366D	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	366	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTCTTACATTCATAGGGTT	0.403		NA											28	68					0	0	0	0
NLRP3	114548	broad.mit.edu	37	1	247587342	247587342	+	Silent	SNP	C	C	T	rs3806267		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247587342C>T	uc001icr.2	+	5	735	c.597C>T	c.(595-597)CCC>CCT	p.P199P	NLRP3_uc001ics.2_Silent_p.P199P|NLRP3_uc001icu.2_Silent_p.P199P|NLRP3_uc001icw.2_Silent_p.P199P|NLRP3_uc001icv.2_Silent_p.P199P|NLRP3_uc010pyw.1_Silent_p.P197P|NLRP3_uc001ict.1_Silent_p.P197P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	199					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGCCCCGTGAGTCCCA	0.582		NA											21	26					0	0	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409710	7409710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409710C>T	uc009xio.1	-	4	428	c.337G>A	c.(337-339)GAG>AAG	p.E113K	SFMBT2_uc001ijn.1_Missense_Mutation_p.E113K|SFMBT2_uc010qay.1_Missense_Mutation_p.E113K|SFMBT2_uc001ijo.1_Missense_Mutation_p.E113K	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	113	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTGCGGTCCTCCCCGTAACCG	0.597		NA											11	26					0	0	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409747	7409747	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409747G>C	uc009xio.1	-	4	391	c.300C>G	c.(298-300)TGC>TGG	p.C100W	SFMBT2_uc001ijn.1_Missense_Mutation_p.C100W|SFMBT2_uc010qay.1_Missense_Mutation_p.C100W|SFMBT2_uc001ijo.1_Missense_Mutation_p.C100W	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	100	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GCAGCTGCCCGCACGTGGTAA	0.567		NA											6	26					0	0	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089499	43089499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:43089499T>C	uc001jaf.1	-	5	1014	c.899A>G	c.(898-900)CAC>CGC	p.H300R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H188R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACAATCATAGTGTTTCACAGG	0.383		NA											23	57					0	0	0	0
ANUBL1	93550	broad.mit.edu	37	10	46121668	46121668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:46121668C>A	uc001jcp.3	-	7	1845	c.1603G>T	c.(1603-1605)GGG>TGG	p.G535W	ANUBL1_uc001jcl.3_Missense_Mutation_p.G55W|ANUBL1_uc001jcm.3_Missense_Mutation_p.G535W|ANUBL1_uc009xmu.2_Missense_Mutation_p.G461W|ANUBL1_uc001jcn.3_Missense_Mutation_p.G461W|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	535							zinc ion binding				0						GATCTTTTCCCAAGTGAATCA	0.388		NA											20	72					8.34e-07	1.27e-06	1	0
PPYR1	5540	broad.mit.edu	37	10	47087815	47087815	+	Silent	SNP	C	C	G	rs142467576		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:47087815C>G	uc001jee.2	+	3	1451	c.1032C>G	c.(1030-1032)GCC>GCG	p.A344A	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.A344A	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	344	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						AGCAGAGCGCCCCCCTGGAGG	0.562		NA											17	82					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55568470	55568470	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:55568470A>T	uc010qhs.1	-	37	5750	c.5355T>A	c.(5353-5355)GGT>GGA	p.G1785G	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.G1778G|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTTGTAACCTTCAGAGT	0.483		NA								HNSCC(58;0.16)			6	19					0	0	0	0
ANK3	288	broad.mit.edu	37	10	61830610	61830610	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:61830610T>C	uc001jky.2	-	37	10221	c.10029A>G	c.(10027-10029)CAA>CAG	p.Q3343Q	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3343					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTTTTTCTTTTTGTTCATCGT	0.403		NA											43	85					0	0	0	0
ARID5B	84159	broad.mit.edu	37	10	63851213	63851213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:63851213G>T	uc001jlt.1	+	10	2017	c.1991G>T	c.(1990-1992)GGG>GTG	p.G664V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	664					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCTGACTGGGCCCATGAAC	0.532		NA											8	31					0.00307968	0.00421185	1	0
JMJD1C	221037	broad.mit.edu	37	10	64960389	64960389	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:64960389A>C	uc001jmn.2	-	11	5423	c.5123T>G	c.(5122-5124)CTG>CGG	p.L1708R	JMJD1C_uc001jml.2_Missense_Mutation_p.L1489R|JMJD1C_uc001jmm.2_Missense_Mutation_p.L1420R|JMJD1C_uc010qiq.1_Missense_Mutation_p.L1526R|JMJD1C_uc009xpi.2_Missense_Mutation_p.L1526R|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1708					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTTTGCTTCAGCTTCTTGAC	0.373		NA											3	16					0	0	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687888	68687888	+	Missense_Mutation	SNP	G	G	T	rs150432500		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:68687888G>T	uc001jmz.1	+	2	1764	c.1214G>T	c.(1213-1215)GGC>GTC	p.G405V	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G405V	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	405	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						ACAGAGCCCGGCCCAGAGACC	0.617		NA											23	56					3.6e-14	6.28e-14	1	0
DNAJC12	56521	broad.mit.edu	37	10	69571401	69571401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:69571401G>A	uc001jnb.2	-	3	346	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	DNAJC12_uc001jnc.2_Nonsense_Mutation_p.Q60*	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	60	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						TTTGCCTTCTGCAGTTTCTGA	0.458		NA											23	69					0	0	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050778	81050778	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81050778G>C	uc001kaf.2	+	10	1175	c.603G>C	c.(601-603)GCG>GCC	p.A201A	ZMIZ1_uc001kag.2_Silent_p.A77A|ZMIZ1_uc001kah.1_Silent_p.A77A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCATGGCGTCGGGCATGA	0.617		NA											12	110					0	0	0	0
ANXA11	311	broad.mit.edu	37	10	81928966	81928966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81928966G>C	uc001kbq.1	-	6	1145	c.320C>G	c.(319-321)CCA>CGA	p.P107R	ANXA11_uc010qlx.1_Missense_Mutation_p.P207R|ANXA11_uc001kbr.1_Missense_Mutation_p.P107R|ANXA11_uc001kbs.1_Missense_Mutation_p.P107R|ANXA11_uc001kbt.1_Missense_Mutation_p.P107R|ANXA11_uc010qly.1_Missense_Mutation_p.P74R|ANXA11_uc009xsq.1_Missense_Mutation_p.P107R|ANXA11_uc001kbu.1_Missense_Mutation_p.P107R	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	107					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCCTGGGGGTGGATACATCCC	0.701		NA											15	20					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	84498357	84498357	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:84498357C>A	uc001kco.2	+	3	1005	c.978C>A	c.(976-978)GTC>GTA	p.V326V	NRG3_uc010qlz.1_Silent_p.V326V|NRG3_uc001kcp.2_Silent_p.V105V|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	326	EGF-like.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAAGGAGTCCGTTGTGATC	0.388		NA											11	36					0.00010058	0.00014364	1	0
LRIT1	26103	broad.mit.edu	37	10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:85992290C>T	uc001kcz.1	-	4	1287	c.1265G>A	c.(1264-1266)CGG>CAG	p.R422Q		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	422	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GGGTCCTGCCCGCCCATCAGA	0.617		NA											20	64					0	0	0	0
KIF20B	9585	broad.mit.edu	37	10	91497825	91497825	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:91497825A>C	uc001kgs.1	+	20	3299	c.3227A>C	c.(3226-3228)CAT>CCT	p.H1076P	KIF20B_uc001kgr.1_Missense_Mutation_p.H1036P|KIF20B_uc001kgt.1_Missense_Mutation_p.H287P|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1076					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						AAAAAAAGTCATCAGATTGAG	0.358		NA											19	45					0	0	0	0
SLIT1	6585	broad.mit.edu	37	10	98803255	98803255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:98803255G>T	uc001kmw.2	-	19	2121	c.1869C>A	c.(1867-1869)AAC>AAA	p.N623K	SLIT1_uc009xvh.1_Missense_Mutation_p.N633K	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	623	LRR 15.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCTGATGCGGTTGTTCCGCA	0.652		NA											13	21					9.05e-12	1.52e-11	1	0
C10orf2	56652	broad.mit.edu	37	10	102749398	102749399	+	Splice_Site	DNP	CA	CA	TT			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102749398_102749399CA>TT	uc001ksf.2	+	2	1919	c.1244_splice	c.e2-2	p.G415_splice	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Splice_Site_p.G415_splice|C10orf2_uc001ksi.2_Splice_Site|C10orf2_uc010qpv.1_Splice_Site|C10orf2_uc001ksh.2_Splice_Site	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A						cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CACCCCACTGCAGGGCCAACAG	0.535		NA											18	63					0	0	0	0
LZTS2	84445	broad.mit.edu	37	10	102763890	102763890	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102763890C>A	uc001ksj.2	+	3	1104	c.1035C>A	c.(1033-1035)GAC>GAA	p.D345E	LZTS2_uc010qpw.1_Missense_Mutation_p.D345E|LZTS2_uc001ksk.2_Missense_Mutation_p.D345E|LZTS2_uc001ksl.2_Missense_Mutation_p.D345E|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	345	Potential.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCGGGACAGTCTGGACG	0.632		NA											11	40					6.4e-05	9.21e-05	1	0
SLK	9748	broad.mit.edu	37	10	105762811	105762811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:105762811G>T	uc001kxo.1	+	9	1909	c.1875G>T	c.(1873-1875)GAG>GAT	p.E625D	SLK_uc001kxp.1_Missense_Mutation_p.E625D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	625	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGTTCAGAGAACATAATGG	0.388		NA											10	24					3.86e-05	5.58e-05	1	0
ATRNL1	26033	broad.mit.edu	37	10	116930892	116930892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:116930892C>G	uc001lcg.2	+	8	1576	c.1190C>G	c.(1189-1191)ACA>AGA	p.T397R	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.T397R|ATRNL1_uc009xyq.2_Missense_Mutation_p.Q368E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	397	Kelch 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383		NA											42	41					0	0	0	0
ADAM12	8038	broad.mit.edu	37	10	127738229	127738229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:127738229G>C	uc001ljk.2	-	15	2041	c.1628C>G	c.(1627-1629)CCT>CGT	p.P543R	ADAM12_uc010qul.1_Missense_Mutation_p.P494R|ADAM12_uc001ljm.2_Missense_Mutation_p.P543R|ADAM12_uc001ljn.2_Missense_Mutation_p.P540R|ADAM12_uc001ljl.3_Missense_Mutation_p.P540R	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	543	Extracellular (Potential).|Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGGGGCAGGTTTAGCACC	0.473		NA											32	36					0	0	0	0
EBF3	253738	broad.mit.edu	37	10	131639253	131639253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:131639253G>T	uc001lki.1	-	14	1448	c.1389C>A	c.(1387-1389)TAC>TAA	p.Y463*		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	472	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCTGGGGACGTAGCCTCGCG	0.547		NA											41	80					2.41e-17	4.33e-17	1	0
CYP2E1	1571	broad.mit.edu	37	10	135350720	135350720	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:135350720G>T	uc001lnj.1	+	7	1154	c.1121G>T	c.(1120-1122)CGA>CTA	p.R374L	CYP2E1_uc001lnk.1_Missense_Mutation_p.R237L|CYP2E1_uc009ybl.1_Missense_Mutation_p.R175L|CYP2E1_uc009ybm.1_Missense_Mutation_p.R28L|CYP2E1_uc001lnl.1_Missense_Mutation_p.R175L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	374					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGCAACCCGAGACACCATT	0.527		NA							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				14	67					6.72e-11	1.12e-10	1	0
ART1	417	broad.mit.edu	37	11	3681167	3681167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:3681167C>T	uc001lye.1	+	3	519	c.418C>T	c.(418-420)CGC>TGC	p.R140C	ART1_uc009yeb.1_Missense_Mutation_p.R140C	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	140					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGAGGCGGGCCGCTCCCGGGC	0.667		NA											13	33					0	0	0	0
OR52A1	23538	broad.mit.edu	37	11	5172865	5172865	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5172865A>G	uc010qyy.1	-	1	735	c.735T>C	c.(733-735)ATT>ATC	p.I245I		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGAGCAATGCAGGTAT	0.428		NA											13	43					0	0	0	0
OR51B5	282763	broad.mit.edu	37	11	5364185	5364185	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5364185G>T	uc001map.1	-	1	570	c.570C>A	c.(568-570)ACC>ACA	p.T190T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.T190T	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAGGTGGTATCAGCAC	0.428		NA											48	71					2.59e-38	4.94e-38	1	0
OR56A4	120793	broad.mit.edu	37	11	6023944	6023944	+	Missense_Mutation	SNP	C	C	A	rs144089765		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:6023944C>A	uc010qzv.1	-	1	435	c.435G>T	c.(433-435)AGG>AGT	p.R145S		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGATCGACCTGAGGTCAA	0.547		NA											27	61					2.8e-10	4.62e-10	1	0
IPO7	10527	broad.mit.edu	37	11	9466672	9466672	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:9466672A>C	uc001mho.2	+	25	3190	c.3048A>C	c.(3046-3048)GGA>GGC	p.G1016G		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	1016					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCATGGAGGATACAAATTCA	0.378		NA											15	46					0	0	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077157	19077157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:19077157C>A	uc001mph.2	-	2	881	c.793G>T	c.(793-795)GTT>TTT	p.V265F		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	265	Helical; Name=7; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GACAGGACAACTGAAACTGGA	0.478		NA											26	37					7.34e-06	1.09e-05	1	0
PAX6	5080	broad.mit.edu	37	11	31823216	31823216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:31823216C>A	uc001mtd.3	-	5	1140	c.250G>T	c.(250-252)GTA>TTA	p.V84L	PAX6_uc001mte.3_Missense_Mutation_p.V84L|PAX6_uc001mtg.3_Missense_Mutation_p.V98L|PAX6_uc001mtf.3_Missense_Mutation_p.V84L|PAX6_uc001mth.3_Missense_Mutation_p.V84L|PAX6_uc009yjr.2_Missense_Mutation_p.V84L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	84	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					ATTTTGCTTACAACTTCTGGA	0.502		NA							Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				23	59					1.87e-06	2.81e-06	1	0
CRY2	1408	broad.mit.edu	37	11	45892072	45892072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:45892072A>T	uc010rgn.1	+	9	1623	c.1601A>T	c.(1600-1602)TAC>TTC	p.Y534F	CRY2_uc009ykw.2_Missense_Mutation_p.Y452F|CRY2_uc010rgo.1_Missense_Mutation_p.Y256F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	513					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						CTTTCGCGCTACCGGGGACTC	0.542		NA											8	29					0	0	0	0
PTPRJ	5795	broad.mit.edu	37	11	48168496	48168496	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:48168496A>G	uc001ngp.3	+	15	3335	c.2980A>G	c.(2980-2982)ATC>GTC	p.I994V		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	994	Helical; (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GGGAGGCTTCATCTTCTGGAG	0.398		NA											96	115					0	0	0	0
OR4C12	283093	broad.mit.edu	37	11	50003578	50003578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:50003578C>T	uc010ria.1	-	1	460	c.460G>A	c.(460-462)GCA>ACA	p.A154T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGAATAGTTGCATGAAGAAAT	0.478		NA											42	162					0	0	0	0
OR4C46	119749	broad.mit.edu	37	11	51515337	51515337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:51515337C>A	uc010ric.1	+	1	56	c.56C>A	c.(55-57)CCA>CAA	p.P19Q		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACAGAGAATCCAAAGATGCAG	0.363		NA											20	98					0.000175454	0.000249192	1	0
TRIM48	79097	broad.mit.edu	37	11	55035843	55035843	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55035843A>T	uc010rid.1	+	4	659	c.573A>T	c.(571-573)TTA>TTT	p.L191F		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	175						intracellular	zinc ion binding				0						GAGACATATTATACAGGTGAG	0.338		NA											12	46					0	0	0	0
OR5I1	10798	broad.mit.edu	37	11	55703379	55703379	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703379A>G	uc010ris.1	-	1	498	c.498T>C	c.(496-498)TTT>TTC	p.F166F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATTTCAGAATAAAGGCAAAGG	0.413		NA											28	28					0	0	0	0
OR5I1	10798	broad.mit.edu	37	11	55703773	55703773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703773G>A	uc010ris.1	-	1	104	c.104C>T	c.(103-105)ACA>ATA	p.T35I		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCATACAATGTCAGAAACAT	0.393		NA											8	28					0	0	0	0
OR5T3	390154	broad.mit.edu	37	11	56020200	56020200	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56020200C>T	uc010rjd.1	+	1	525	c.525C>T	c.(523-525)ATC>ATT	p.I175I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	175	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TGCCACTCATCACTGCTTCCT	0.433		NA											99	120					0	0	0	0
OR8J1	219477	broad.mit.edu	37	11	56127929	56127929	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56127929T>C	uc010rjh.1	+	1	207	c.207T>C	c.(205-207)ATT>ATC	p.I69I		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGGCTCTCATTAATCTTGGTA	0.453		NA											27	108					0	0	0	0
OR5M11	219487	broad.mit.edu	37	11	56309852	56309852	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56309852T>C	uc010rjl.1	-	1	882	c.882A>G	c.(880-882)AAA>AAG	p.K294K		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCTTCACATCTTTATTCCTCA	0.373		NA											11	40					0	0	0	0
OR5M1	390168	broad.mit.edu	37	11	56380575	56380575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56380575C>A	uc001nja.1	-	1	404	c.404G>T	c.(403-405)AGG>ATG	p.R135M		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CTTGGACATCCTGGAACTGTA	0.453		NA											34	50					9.66e-10	1.58e-09	1	0
OR5B3	441608	broad.mit.edu	37	11	58170806	58170806	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:58170806A>G	uc010rkf.1	-	1	77	c.77T>C	c.(76-78)TTT>TCT	p.F26S		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACGTTATAAAGAGGGGAAC	0.413		NA											24	68					0	0	0	0
TUT1	64852	broad.mit.edu	37	11	62343587	62343587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:62343587C>T	uc001nto.2	-	9	1756	c.1718G>A	c.(1717-1719)CGC>CAC	p.R573H	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.R69H	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	535	PAP-associated.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GGGGCCAAGGCGCAGACCCTC	0.622		NA											11	39					0	0	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64335111C>A	uc001oai.2	+	7	1473	c.1099C>A	c.(1099-1101)CTG>ATG	p.L367M	SLC22A11_uc001oaj.2_Missense_Mutation_p.L367M|SLC22A11_uc009ypq.2_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	367	Helical; (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632		NA											80	80					5.95e-44	1.14e-43	1	0
SLC22A12	116085	broad.mit.edu	37	11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64367324C>T	uc001oam.1	+	7	1994	c.1247C>T	c.(1246-1248)GCA>GTA	p.A416V	SLC22A12_uc001oal.1_Missense_Mutation_p.A195V|SLC22A12_uc009yps.1_Missense_Mutation_p.A382V|SLC22A12_uc001oan.1_Missense_Mutation_p.A308V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A234V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	416	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CTGTTGCTGGCAGGGCTCTGC	0.657		NA											8	33					0	0	0	0
RHOD	29984	broad.mit.edu	37	11	66834226	66834226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:66834226C>T	uc001ojv.2	+	3	323	c.238C>T	c.(238-240)CGC>TGC	p.R80C		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						TGACTATGACCGCCTGCGGCC	0.592		NA											31	115					0	0	0	0
LRP5	4041	broad.mit.edu	37	11	68177399	68177399	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68177399C>T	uc001ont.2	+	10	2184	c.2109C>T	c.(2107-2109)TTC>TTT	p.F703F	LRP5_uc009ysg.2_Silent_p.F113F	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	703	LDL-receptor class B 11.|Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GCCGCGCCTTCATGAACGGGA	0.488		NA											24	59					0	0	0	0
CPT1A	1374	broad.mit.edu	37	11	68540781	68540781	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68540781C>T	uc001oog.3	-	14	1862	c.1692G>A	c.(1690-1692)ACG>ACA	p.T564T	CPT1A_uc001oof.3_Silent_p.T564T|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	564	Cytoplasmic (Potential).|Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCTGGGCTCGTGCGACATT	0.527		NA											11	47					0	0	0	0
GDPD5	81544	broad.mit.edu	37	11	75150960	75150960	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:75150960G>T	uc001owo.3	-	16	2057	c.1520C>A	c.(1519-1521)TCC>TAC	p.S507Y	GDPD5_uc001owp.3_Missense_Mutation_p.S507Y|GDPD5_uc001own.3_Missense_Mutation_p.S262Y|GDPD5_uc009yuc.2_Missense_Mutation_p.S369Y|GDPD5_uc009yud.2_Missense_Mutation_p.S388Y	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	507	Helical; (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						GAGGGTGAAGGAGACCAGGTC	0.627		NA											18	57					6.5e-13	1.11e-12	1	0
AMOTL1	154810	broad.mit.edu	37	11	94533100	94533100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:94533100G>T	uc001pfb.2	+	3	914	c.744G>T	c.(742-744)GAG>GAT	p.E248D	AMOTL1_uc001pfc.2_Missense_Mutation_p.E198D	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	248						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATAAGGACGAGGCGCTGAAGG	0.612		NA											11	47					1.09e-07	1.69e-07	1	0
KIAA1377	57562	broad.mit.edu	37	11	101834402	101834402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:101834402G>C	uc001pgm.2	+	6	2906	c.2636G>C	c.(2635-2637)TGT>TCT	p.C879S	KIAA1377_uc001pgn.2_Missense_Mutation_p.C835S|KIAA1377_uc010run.1_Missense_Mutation_p.C680S|KIAA1377_uc009yxa.1_Missense_Mutation_p.C680S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	879							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCATCATATTGTTCTTCAGAG	0.418		NA											24	18					0	0	0	0
CASP4	837	broad.mit.edu	37	11	104819393	104819393	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:104819393C>A	uc001pid.1	-	6	865	c.792G>T	c.(790-792)GGG>GGT	p.G264G	CASP4_uc001pib.1_Silent_p.G208G|CASP4_uc009yxg.1_Silent_p.G173G	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	264					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCCACAGTTCCCCACGGTTTG	0.493		NA											18	44					1.68e-08	2.68e-08	1	0
GRIA4	2893	broad.mit.edu	37	11	105774688	105774688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105774688T>C	uc001pix.2	+	8	1480	c.1034T>C	c.(1033-1035)ATG>ACG	p.M345T	GRIA4_uc001piu.1_Missense_Mutation_p.M345T|GRIA4_uc001piw.2_Missense_Mutation_p.M345T|GRIA4_uc009yxk.1_Missense_Mutation_p.M345T	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	345	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAATTGACATGGAGAGGACA	0.398		NA											18	76					0	0	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105950303	105950303	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105950303C>G	uc001pjc.1	+	2	439	c.293C>G	c.(292-294)TCA>TGA	p.S98*	KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_RNA	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	98					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCAAAGGACTCATCGAATCCT	0.388		NA											14	42					0	0	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485323	110485323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:110485323G>C	uc001pkz.1	-	7	877	c.592C>G	c.(592-594)CTC>GTC	p.L198V	ARHGAP20_uc001pky.1_Missense_Mutation_p.L175V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L162V|ARHGAP20_uc001pla.1_Missense_Mutation_p.L162V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	198	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGATTTTGAGGGGAATGCTC	0.413		NA											10	35					0	0	0	0
BCL9L	283149	broad.mit.edu	37	11	118772310	118772310	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118772310C>A	uc001pug.2	-	6	3107	c.2142G>T	c.(2140-2142)GCG>GCT	p.A714A	BCL9L_uc009zal.2_Silent_p.A709A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	714	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGTCGGTGCGCCTGCATCA	0.662		NA											20	54					5.35e-07	8.21e-07	1	0
VPS11	55823	broad.mit.edu	37	11	118944567	118944567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118944567C>G	uc010ryx.1	+	8	1186	c.1144C>G	c.(1144-1146)CTG>GTG	p.L382V	VPS11_uc010ryy.1_Missense_Mutation_p.L228V	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	382					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GAGCCAGCATCTGGACAGTGA	0.478		NA											7	24					0	0	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283417	126283417	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:126283417G>C	uc001qds.2	+	10	1008	c.789G>C	c.(787-789)CTG>CTC	p.L263L	ST3GAL4_uc001qdt.2_Silent_p.L259L|ST3GAL4_uc009zcc.2_Silent_p.L99L|ST3GAL4_uc009zcd.2_Silent_p.L252L|ST3GAL4_uc001qdu.2_Silent_p.L259L|ST3GAL4_uc001qdv.2_Silent_p.L263L|ST3GAL4_uc009zce.2_Silent_p.L259L|ST3GAL4_uc001qdw.2_Silent_p.L252L|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_Silent_p.L99L|ST3GAL4_uc001qdz.2_Silent_p.L99L	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	263	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCACGGGCCTGTTGGCCATCA	0.527		NA											13	27					0	0	0	0
NFRKB	4798	broad.mit.edu	37	11	129758530	129758530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:129758530C>A	uc001qfi.2	-	4	497	c.296G>T	c.(295-297)CGC>CTC	p.R99L	NFRKB_uc001qfg.2_Missense_Mutation_p.R112L|NFRKB_uc001qfh.2_Missense_Mutation_p.R122L|NFRKB_uc010sbw.1_Missense_Mutation_p.R99L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	99					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTCCAAAGCGGAAGTTCTC	0.502		NA											19	43					2.28e-05	3.33e-05	1	0
GALNT8	26290	broad.mit.edu	37	12	4835951	4835951	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:4835951C>T	uc001qne.1	+	2	557	c.465C>T	c.(463-465)AAC>AAT	p.N155N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	155	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						ACCTCAGCAACCAGCTGCCTC	0.567		NA											37	76					0	0	0	0
KCNA1	3736	broad.mit.edu	37	12	5021762	5021762	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:5021762C>T	uc001qnh.2	+	2	2323	c.1218C>T	c.(1216-1218)GTC>GTT	p.V406V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	406	Helical; Name=Segment S6; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGTACCTGTCATTGTGTCCA	0.517		NA											170	304					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7636247	7636247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:7636247G>C	uc001qsz.3	-	12	2932	c.2804C>G	c.(2803-2805)CCC>CGC	p.P935R	CD163_uc001qta.3_Missense_Mutation_p.P935R|CD163_uc009zfw.2_Missense_Mutation_p.P968R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	935	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						ACAGGAAGTGGGTCCTTCCTG	0.468		NA											23	55					0	0	0	0
A2M	2	broad.mit.edu	37	12	9230012	9230012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:9230012C>A	uc001qvk.1	-	27	3394	c.3281G>T	c.(3280-3282)GGA>GTA	p.G1094V	A2M_uc001qvj.1_Missense_Mutation_p.G136V|A2M_uc009zgk.1_Missense_Mutation_p.G944V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1094					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	ATCTTCTACTCCTCCCTGTGA	0.453		NA											7	24					7.48e-07	1.14e-06	1	0
CLEC1B	51266	broad.mit.edu	37	12	10147807	10147807	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:10147807G>T	uc001qwu.2	-	5	677	c.477C>A	c.(475-477)GTC>GTA	p.V159V	CLEC1B_uc009zhd.2_Silent_p.V126V	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	159	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						GAGATAATCCGACCCAACGAA	0.433		NA											73	406					1.76e-36	3.34e-36	1	0
PDE3A	5139	broad.mit.edu	37	12	20769241	20769241	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20769241T>C	uc001reh.1	+	4	1369	c.1347T>C	c.(1345-1347)GGT>GGC	p.G449G		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGCCACAGGTCTACCCACCT	0.562		NA											35	82					0	0	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874784	20874784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20874784G>T	uc001rej.3	+	9	1177	c.822G>T	c.(820-822)TGG>TGT	p.W274C	SLCO1C1_uc010sii.1_Missense_Mutation_p.W274C|SLCO1C1_uc010sij.1_Missense_Mutation_p.W225C|SLCO1C1_uc009zip.2_Missense_Mutation_p.W108C|SLCO1C1_uc001rei.2_Missense_Mutation_p.W274C|SLCO1C1_uc010sik.1_Missense_Mutation_p.W156C	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	274	Helical; Name=6; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TAGGAGCCTGGTGGCTTGGCT	0.423		NA											18	32					2.46e-09	4e-09	1	0
OVCH1	341350	broad.mit.edu	37	12	29630038	29630038	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:29630038T>C	uc001rix.1	-	12	1374	c.1374A>G	c.(1372-1374)ATA>ATG	p.I458M		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	458	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCTACCTTTATAATGTGCT	0.393		NA											8	20					0	0	0	0
KIF21A	55605	broad.mit.edu	37	12	39716684	39716684	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39716684C>A	uc001rly.2	-	27	3603	c.3457G>T	c.(3457-3459)GCC>TCC	p.A1153S	KIF21A_uc001rlv.2_Missense_Mutation_p.A158S|KIF21A_uc001rlw.2_Missense_Mutation_p.A470S|KIF21A_uc001rlx.2_Missense_Mutation_p.A1140S|KIF21A_uc001rlz.2_Missense_Mutation_p.A1117S|KIF21A_uc010skl.1_Missense_Mutation_p.A1133S	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCCTTCGGGCCTAGTCAAAG	0.433		NA											23	73					3.62e-10	5.97e-10	1	0
KIF21A	55605	broad.mit.edu	37	12	39724658	39724658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39724658T>G	uc001rly.2	-	23	3355	c.3209A>C	c.(3208-3210)AAA>ACA	p.K1070T	KIF21A_uc001rlv.2_Missense_Mutation_p.K82T|KIF21A_uc001rlw.2_Missense_Mutation_p.K387T|KIF21A_uc001rlx.2_Missense_Mutation_p.K1057T|KIF21A_uc001rlz.2_Missense_Mutation_p.K1034T|KIF21A_uc010skl.1_Missense_Mutation_p.K1057T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1070	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGTTTGTTTGAGTCGACC	0.403		NA											14	55					0	0	0	0
CNTN1	1272	broad.mit.edu	37	12	41418967	41418967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:41418967G>A	uc001rmm.1	+	21	2652	c.2539G>A	c.(2539-2541)GCC>ACC	p.A847T	CNTN1_uc001rmn.1_Missense_Mutation_p.A836T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	847	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTATTGGGCTGCCCATGACAA	0.433		NA											37	174					0	0	0	0
FAM113B	91523	broad.mit.edu	37	12	47629873	47629873	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:47629873T>C	uc001rpn.2	+	4	1758	c.1027T>C	c.(1027-1029)TCC>CCC	p.S343P	FAM113B_uc001rpq.2_Missense_Mutation_p.S343P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	343	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					TGCCTGTTTTTCCTCAGACCA	0.393		NA											13	207					0	0	0	0
ACVRL1	94	broad.mit.edu	37	12	52312877	52312877	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52312877C>A	uc001rzj.2	+	9	1638	c.1355C>A	c.(1354-1356)CCT>CAT	p.P452H	ACVRL1_uc001rzk.2_Missense_Mutation_p.P452H|ACVRL1_uc010snm.1_Missense_Mutation_p.P278H	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	452	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCACCATCCCTAACCGGCTG	0.587		NA							Hereditary_Hemorrhagic_Telangiectasia				19	62					1.56e-12	2.67e-12	1	0
KRT85	3891	broad.mit.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52756641G>T	uc001sag.2	-	6	1194	c.1074C>A	c.(1072-1074)TGC>TGA	p.C358*		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	358	Rod.|Coil 2.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597		NA											57	97					3.89e-19	7.11e-19	1	0
OR10A7	121364	broad.mit.edu	37	12	55614811	55614811	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:55614811G>C	uc010spf.1	+	1	3	c.3G>C	c.(1-3)ATG>ATC	p.M1I		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TCTAAGATATGATCTGTGAAA	0.313		NA											24	108					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57578167	57578167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57578167G>A	uc001snd.2	+	38	6584	c.6118G>A	c.(6118-6120)GGC>AGC	p.G2040S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2040	LDL-receptor class B 19.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCTAGATGGCACGGAGCG	0.597		NA											27	49					0	0	0	0
KIF5A	3798	broad.mit.edu	37	12	57969038	57969038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57969038C>G	uc001sor.1	+	16	2096	c.1888C>G	c.(1888-1890)CAG>GAG	p.Q630E	KIF5A_uc010srr.1_Missense_Mutation_p.Q541E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	630					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						CTCATCCTGCCAGCTCCTCAT	0.552		NA											3	20					0	0	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147483	62147483	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:62147483G>T	uc001sqw.2	-	4	1817	c.304C>A	c.(304-306)CTA>ATA	p.L102I	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.L102I|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	102						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTCCCTCTAGACATGGCTGC	0.403		NA											37	79					6.03e-27	1.13e-26	1	0
C12orf66	144577	broad.mit.edu	37	12	64587735	64587735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:64587735C>T	uc001srw.3	-	3	1284	c.1225G>A	c.(1225-1227)GAG>AAG	p.E409K	C12orf66_uc009zql.2_Missense_Mutation_p.E356K	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	409										ovary(1)	1						TTCTTTGACTCAAAAATGATG	0.443		NA											55	112					0	0	0	0
IFNG	3458	broad.mit.edu	37	12	68551716	68551716	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68551716A>T	uc001stw.1	-	3	469	c.343T>A	c.(343-345)TTC>ATC	p.F115I		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	115					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AGCTTTTCGAAGTCATCTCGT	0.368		NA											24	94					0	0	0	0
IL26	55801	broad.mit.edu	37	12	68595635	68595635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68595635C>T	uc001stx.1	-	5	541	c.506G>A	c.(505-507)AGC>AAC	p.S169N		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	169					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGACTGCTTTCCAATAA	0.294		NA											19	30					0	0	0	0
TPH2	121278	broad.mit.edu	37	12	72425354	72425354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72425354C>T	uc009zrw.1	+	11	1493	c.1352C>T	c.(1351-1353)ACA>ATA	p.T451I	TPH2_uc001swy.2_Missense_Mutation_p.T361I	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	AATCCCTACACACAGAGTATT	0.408		NA											15	72					0	0	0	0
TRHDE	29953	broad.mit.edu	37	12	72771839	72771839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72771839C>G	uc001sxa.2	+	3	1148	c.1118C>G	c.(1117-1119)ACA>AGA	p.T373R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	373	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CTCCATATAACAAAGAGATTA	0.333		NA											21	88					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83251085	83251085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:83251085C>G	uc001szt.2	+	2	812	c.380C>G	c.(379-381)CCC>CGC	p.P127R	TMTC2_uc001szr.1_Missense_Mutation_p.P127R|TMTC2_uc001szs.1_Missense_Mutation_p.P127R|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	127	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GCTTCTCACCCCATTCACACG	0.517		NA											18	69					0	0	0	0
CEP290	80184	broad.mit.edu	37	12	88478552	88478552	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:88478552C>G	uc001tar.2	-	35	4859	c.4515G>C	c.(4513-4515)CTG>CTC	p.L1505L	CEP290_uc001taq.2_Silent_p.L565L	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						ATCGAAGCCTCAGTTCATTGA	0.363		NA											20	56					0	0	0	0
C12orf74	338809	broad.mit.edu	37	12	93101490	93101490	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:93101490G>T	uc001tch.1	+	3	802	c.572G>T	c.(571-573)TGA>TTA	p.*191L	C12orf74_uc001tci.2_3'UTR	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	191											0						GACATCTGTTGACTATTTACT	0.363		NA											6	32					0.00198382	0.00272549	1	0
ELK3	2004	broad.mit.edu	37	12	96641260	96641260	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:96641260A>C	uc001teo.1	+	3	1029	c.750A>C	c.(748-750)TCA>TCC	p.S250S		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	250					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					CCCCCAACTCACCCCTCCCTT	0.582		NA											6	136					0	0	0	0
SSH1	54434	broad.mit.edu	37	12	109182593	109182593	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:109182593T>C	uc001tnm.2	-	15	2408	c.2321A>G	c.(2320-2322)AAG>AGG	p.K774R	SSH1_uc001tnl.2_Missense_Mutation_p.K462R	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	774					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CGATTCTTCCTTTATTACCAC	0.468		NA											65	89					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110230484	110230484	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:110230484C>A	uc001tpj.1	-	10	1892	c.1797G>T	c.(1795-1797)ACG>ACT	p.T599T	TRPV4_uc001tpg.1_Silent_p.T565T|TRPV4_uc001tph.1_Silent_p.T552T|TRPV4_uc001tpi.1_Silent_p.T492T|TRPV4_uc001tpk.1_Silent_p.T599T|TRPV4_uc001tpl.1_Silent_p.T539T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	599	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TATAGGTCCCCGTCAGCTTCA	0.577		NA											22	41					1.87e-06	2.81e-06	1	0
HVCN1	84329	broad.mit.edu	37	12	111089187	111089187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:111089187C>G	uc001trs.1	-	6	643	c.478G>C	c.(478-480)GTC>CTC	p.V160L	HVCN1_uc001trq.1_Missense_Mutation_p.V160L|HVCN1_uc001trt.1_Missense_Mutation_p.V160L|HVCN1_uc010syd.1_Missense_Mutation_p.V140L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	160	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						AGGCGGAAGACAAATAATTTA	0.468		NA											32	54					0	0	0	0
NOS1	4842	broad.mit.edu	37	12	117662875	117662875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:117662875T>C	uc001twm.1	-	25	4458	c.3772A>G	c.(3772-3774)ATT>GTT	p.I1258V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1258	NADP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGGGCAATGCCGGTGCCT	0.602		NA											86	133					0	0	0	0
CLIP1	6249	broad.mit.edu	37	12	122825885	122825885	+	Silent	SNP	T	T	A	rs150031777		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:122825885T>A	uc001ucg.1	-	10	1972	c.1866A>T	c.(1864-1866)CTA>CTT	p.L622L	CLIP1_uc001uch.1_Silent_p.L611L|CLIP1_uc001uci.1_Silent_p.L576L|CLIP1_uc001ucj.1_Silent_p.L312L|CLIP1_uc009zxo.1_Silent_p.L178L	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	622	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGACTTCCATAGAGCTATCA	0.488		NA											76	105					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004094	126004094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:126004094G>T	uc001uhe.1	+	4	1209	c.1201G>T	c.(1201-1203)GAC>TAC	p.D401Y		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	401	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGATTGAGGACTCCATGAG	0.532		NA											15	98					2.32e-05	3.38e-05	1	0
EP400	57634	broad.mit.edu	37	12	132491392	132491392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:132491392G>A	uc001ujn.2	+	14	3309	c.3274G>A	c.(3274-3276)GCT>ACT	p.A1092T	EP400_uc001ujl.2_Missense_Mutation_p.A1091T|EP400_uc001ujm.2_Missense_Mutation_p.A1092T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1128	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGATCATTGCTTTTTTTGC	0.428		NA											24	36					0	0	0	0
ELF1	1997	broad.mit.edu	37	13	41515109	41515109	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:41515109T>C	uc001uxs.2	-	8	1577	c.1204A>G	c.(1204-1206)AGA>GGA	p.R402G	ELF1_uc010tfc.1_Missense_Mutation_p.R378G|ELF1_uc010acd.2_Missense_Mutation_p.R295G	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	402					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTACTGGTTCTAGCTGCTTCT	0.468		NA											60	24					0	0	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725938	45725938	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:45725938A>G	uc001uzw.2	+	4	436	c.276A>G	c.(274-276)ACA>ACG	p.T92T	GTF2F2_uc001uzv.2_Silent_p.T92T	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	92					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GAGGACAGACATTAACAGTAT	0.373		NA											58	20					0	0	0	0
PCDH20	64881	broad.mit.edu	37	13	61987508	61987508	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:61987508T>C	uc001vid.3	-	2	1088	c.724A>G	c.(724-726)AAT>GAT	p.N242D	PCDH20_uc010thj.1_Missense_Mutation_p.N242D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	215	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTACCCCATTAATGCCTACA	0.532		NA											50	45					0	0	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193874	100193874	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:100193874C>A	uc001voj.1	+	9	1103	c.970C>A	c.(970-972)CGG>AGG	p.R324R	TM9SF2_uc010afz.1_Silent_p.R159R	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	324	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358		NA											24	45					1.18e-14	2.08e-14	1	0
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20528889C>T	uc001vwn.1	+	1	686	c.686C>T	c.(685-687)TCA>TTA	p.S229L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438		NA											77	78					0	0	0	0
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20871907T>A	uc001vxe.2	-	6	1209	c.1169A>T	c.(1168-1170)CAC>CTC	p.H390L	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627		NA											37	79					0	0	0	0
RNASE4	6038	broad.mit.edu	37	14	21167532	21167532	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:21167532T>A	uc001vxy.3	+	2	565	c.2T>A	c.(1-3)ATG>AAG	p.M1K	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.M1K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	1					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAGATACTGATGGCTCTGCAG	0.532		NA											32	100					0	0	0	0
PSMB11	122706	broad.mit.edu	37	14	23512042	23512042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23512042C>T	uc010ake.1	+	1	667	c.608C>T	c.(607-609)GCC>GTC	p.A203V		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGCCTACGCCCTGGCTCGC	0.627		NA											28	36					0	0	0	0
MYH6	4624	broad.mit.edu	37	14	23862578	23862578	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23862578C>A	uc001wjv.2	-	23	3145	c.3078G>T	c.(3076-3078)AAG>AAT	p.K1026N		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1026	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTTGACCTTAGACTTGG	0.517		NA											36	145					2.2e-14	3.88e-14	1	0
DHRS2	10202	broad.mit.edu	37	14	24108190	24108190	+	Silent	SNP	C	C	A	rs146713514	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24108190C>A	uc001wkt.3	+	2	564	c.117C>A	c.(115-117)GCC>GCA	p.A39A	DHRS2_uc010aku.1_Silent_p.A39A|DHRS2_uc001wku.3_Silent_p.A39A|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.A39A	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	17					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		ACCGGGTAGCCGTGGTCACGG	0.612		NA											50	84					4.26e-23	7.88e-23	1	0
REC8	9985	broad.mit.edu	37	14	24641797	24641797	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24641797C>T	uc001wmr.2	+	2	463	c.36C>T	c.(34-36)ACC>ACT	p.T12T	REC8_uc001wms.2_Silent_p.T12T	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	12					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCCACACCGGCTGCTTTG	0.612		NA											8	44					0	0	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217975	36217975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:36217975T>C	uc001wti.2	-	10	1458	c.1067A>G	c.(1066-1068)AAA>AGA	p.K356R	RALGAPA1_uc001wtj.2_Missense_Mutation_p.K356R|RALGAPA1_uc010tpv.1_Missense_Mutation_p.K356R|RALGAPA1_uc010tpw.1_Missense_Mutation_p.K356R|RALGAPA1_uc001wtk.1_Missense_Mutation_p.K207R	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	356					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TCTGTCTGTTTTATCAGCATT	0.353		NA											16	84					0	0	0	0
MDGA2	161357	broad.mit.edu	37	14	47504488	47504488	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:47504488A>T	uc001wwj.3	-	8	1534	c.1338T>A	c.(1336-1338)GTT>GTA	p.V446V	MDGA2_uc001wwi.3_Silent_p.V217V|MDGA2_uc010ani.2_Intron	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	446	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TTTCCTGTGGAACAGTCAGAT	0.373		NA											41	56					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50596694	50596694	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:50596694G>C	uc001wxs.3	-	21	3462	c.3364C>G	c.(3364-3366)CTT>GTT	p.L1122V	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.L1089V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1122					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTGGCAAAAGCACTGGAGCA	0.274		NA											6	33					0	0	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048102	58048102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:58048102G>A	uc001xdb.1	-	4	745	c.745C>T	c.(745-747)CTT>TTT	p.L249F	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.L90F	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						GTTCTTTTAAGAAAGAGTTTC	0.413		NA											6	30					0	0	0	0
C14orf39	317761	broad.mit.edu	37	14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:60903645T>C	uc001xez.3	-	18	1792	c.1682A>G	c.(1681-1683)CAG>CGG	p.Q561R	C14orf39_uc010apo.2_Missense_Mutation_p.Q272R	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	561								p.Q561E(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323		NA											65	195					0	0	0	0
TMED10	10972	broad.mit.edu	37	14	75614419	75614419	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:75614419T>G	uc001xrm.1	-	3	426	c.359A>C	c.(358-360)CAA>CCA	p.Q120P	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	120	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GATCACGAGTTGGTCAGGTAT	0.493		NA											55	218					0	0	0	0
ANGEL1	23357	broad.mit.edu	37	14	77274328	77274328	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:77274328G>A	uc001xsv.2	-	3	926	c.813C>T	c.(811-813)GAC>GAT	p.D271D	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	271										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AATTGAGGATGTCTGGATGGC	0.498		NA											6	54					0	0	0	0
C14orf102	55051	broad.mit.edu	37	14	90769079	90769079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:90769079C>T	uc001xyi.1	-	6	1427	c.1396G>A	c.(1396-1398)GAA>AAA	p.E466K	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.1_Missense_Mutation_p.E235K	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	466							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ATGGCCTCTTCCGTGCCAGGC	0.413		NA											8	44					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94044388	94044388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94044388G>T	uc001ybv.1	+	15	1964	c.1881G>T	c.(1879-1881)ATG>ATT	p.M627I	KIAA1409_uc001ybs.1_Missense_Mutation_p.M627I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	804						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCATCCTCATGTTTGATCTTC	0.403		NA											6	68					0.00198382	0.00272549	1	0
KIAA1409	57578	broad.mit.edu	37	14	94088986	94088986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94088986C>T	uc001ybv.1	+	28	5025	c.4942C>T	c.(4942-4944)CCT>TCT	p.P1648S	KIAA1409_uc001ybs.1_Missense_Mutation_p.P1626S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1803						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAGTGAGAAGCCTGATACCAG	0.498		NA											9	52					0	0	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94914815G>T	uc001ydd.1	-	2	357	c.297C>A	c.(295-297)ATC>ATA	p.I99I		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622		NA											24	142					2.89e-11	4.82e-11	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936102	94936102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94936102C>A	uc001ydf.2	-	2	291	c.130G>T	c.(130-132)GCC>TCC	p.A44S	SERPINA9_uc001yde.2_Missense_Mutation_p.A44S|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.A44S|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	26					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCACTGGGGGCATTGGCCGGG	0.532		NA											15	91					4.75e-09	7.68e-09	1	0
CLMN	79789	broad.mit.edu	37	14	95670290	95670290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:95670290C>G	uc001yef.2	-	9	1512	c.1396G>C	c.(1396-1398)GTT>CTT	p.V466L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	466						integral to membrane	actin binding				0				Epithelial(152;0.193)		GCAACCTCAACTGCCAAGACA	0.488		NA											13	74					0	0	0	0
BCL11B	64919	broad.mit.edu	37	14	99641175	99641175	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:99641175G>A	uc001yga.2	-	4	2265	c.1998C>T	c.(1996-1998)CCC>CCT	p.P666P	BCL11B_uc001ygb.2_Silent_p.P595P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	666						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAAGAGCCCGGGGAAGGGCT	0.478		NA	T	TLX3	T-ALL								3	11					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500485	102500485	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:102500485T>G	uc001yks.2	+	55	10750	c.10586T>G	c.(10585-10587)TTC>TGC	p.F3529C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3529					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAGAACTTGTTCACTACCTGG	0.507		NA											41	219					0	0	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416154	103416154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:103416154C>A	uc001ymi.1	-	26	3629	c.3397G>T	c.(3397-3399)GAA>TAA	p.E1133*	CDC42BPB_uc001ymj.1_Nonsense_Mutation_p.E235*	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1133	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GATTTTCCTTCAGGCAGATCA	0.527		NA											52	90					8.79e-14	1.53e-13	1	0
GPR132	29933	broad.mit.edu	37	14	105521755	105521755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105521755C>A	uc001yqd.2	-	3	902	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Intron|GPR132_uc010axe.1_RNA	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	1	Extracellular (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		gcattgggcacattcacattc	0.015		NA											51	96					9.91e-18	1.8e-17	1	0
OR4N4	283694	broad.mit.edu	37	15	22383249	22383249	+	Missense_Mutation	SNP	G	G	T	rs112081824	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:22383249G>T	uc001yuc.1	+	7	1758	c.777G>T	c.(775-777)ATG>ATT	p.M259I	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.M259I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATCTACATGTGCCCTTTCA	0.453		NA											41	208					3.43e-23	6.37e-23	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890840	23890840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:23890840G>A	uc001ywj.3	-	1	336	c.241C>T	c.(241-243)CCT>TCT	p.P81S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCAGGAAGGCTGGAGCGGC	0.667		NA											6	9					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922500	24922500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:24922500G>T	uc001ywo.2	+	1	1960	c.1486G>T	c.(1486-1488)GAC>TAC	p.D496Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	496	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCTCACTTCTGACCCCCCAAC	0.522		NA											43	191					9.73e-26	1.82e-25	1	0
ATP10A	57194	broad.mit.edu	37	15	26026179	26026179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:26026179C>G	uc010ayu.2	-	2	747	c.641G>C	c.(640-642)GGC>GCC	p.G214A		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCCGAGAAGCCGCGGACCAC	0.612		NA											13	68					0	0	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167082	42167082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:42167082G>A	uc001zos.2	-	23	4688	c.4355C>T	c.(4354-4356)GCC>GTC	p.A1452V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1487	Spectrin 11.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGGGGAGGCGGCCATGCC	0.637		NA											8	44					0	0	0	0
EPB42	2038	broad.mit.edu	37	15	43507460	43507460	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:43507460T>C	uc001zra.3	-	3	563	c.263A>G	c.(262-264)AAG>AGG	p.K88R	EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.K118R|EPB42_uc010udm.1_Intron	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	88					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACTCCACCACTTTCGGTCCCC	0.562		NA											29	88					0	0	0	0
GATM	2628	broad.mit.edu	37	15	45660362	45660362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:45660362C>T	uc001zvc.2	-	4	910	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	GATM_uc001zvb.2_Missense_Mutation_p.R65Q|GATM_uc010uev.1_Missense_Mutation_p.R247Q	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	194					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCTGTACGCTCGGTACTCAAA	0.493		NA											11	43					0	0	0	0
PRTG	283659	broad.mit.edu	37	15	55965629	55965629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:55965629C>T	uc002adg.2	-	10	1840	c.1792G>A	c.(1792-1794)GGG>AGG	p.G598R	PRTG_uc002adh.2_Missense_Mutation_p.G100R	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	598	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTCCCAGCCCCACTCTGGTG	0.488		NA											18	70					0	0	0	0
AQP9	366	broad.mit.edu	37	15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:58458911C>T	uc002aez.2	+	2	508	c.151C>T	c.(151-153)CGA>TGA	p.R51*	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_5'UTR	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	51	Extracellular (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468		NA											51	186					0	0	0	0
CA12	771	broad.mit.edu	37	15	63632630	63632630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:63632630C>T	uc002amc.2	-	7	760	c.604G>A	c.(604-606)GTC>ATC	p.V202I	CA12_uc002amd.2_Missense_Mutation_p.V202I|CA12_uc002ame.2_Missense_Mutation_p.V142I	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	202	Extracellular (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)	AATCCCGGGACGAATGCTTCC	0.562		NA											12	49					0	0	0	0
IQCH	64799	broad.mit.edu	37	15	67757586	67757586	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:67757586T>G	uc002aqo.1	+	17	2674	c.2627T>G	c.(2626-2628)GTT>GGT	p.V876G	IQCH_uc002aqq.1_Missense_Mutation_p.V533G|IQCH_uc002aqp.1_Missense_Mutation_p.V537G|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	876										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CCCCGCTTTGTTCCAAAGGAA	0.517		NA											45	48					0	0	0	0
FAM108C1	58489	broad.mit.edu	37	15	80988172	80988172	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:80988172G>T	uc002bfu.2	+	1	521	c.402G>T	c.(400-402)ACG>ACT	p.T134T	FAM108C1_uc002bft.2_Silent_p.T127T	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	134							hydrolase activity				0						GCCGCTACACGCTGCTCTTCT	0.652		NA											5	9					0.000602214	0.000838832	1	0
ACAN	176	broad.mit.edu	37	15	89403596	89403596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:89403596G>T	uc010upo.1	+	13	7246	c.6872G>T	c.(6871-6873)GGG>GTG	p.G2291V	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2291					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGGAGCTGGGACCTGCAAG	0.617		NA											20	18					1.01e-13	1.75e-13	1	0
C15orf58	390637	broad.mit.edu	37	15	90784840	90784840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:90784840C>A	uc002bpc.2	+	4	879	c.700C>A	c.(700-702)CCA>ACA	p.P234T		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	234					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						GGAGCAGGCGCCAAGCGAGCC	0.632		NA											20	64					2.38e-13	4.1e-13	1	0
ARRDC4	91947	broad.mit.edu	37	15	98513117	98513117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:98513117A>G	uc010bom.2	+	6	1046	c.887A>G	c.(886-888)TAC>TGC	p.Y296C	ARRDC4_uc002bui.3_Missense_Mutation_p.Y209C	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	296					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATTAGGTATACATTCACATT	0.353		NA											10	37					0	0	0	0
WDR24	84219	broad.mit.edu	37	16	737322	737322	+	Missense_Mutation	SNP	C	C	T	rs145838196	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:737322C>T	uc002ciz.1	-	3	1514	c.754G>A	c.(754-756)GCC>ACC	p.A252T	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCCACCGAGGCGATGGTCTGC	0.637		NA											21	59					0	0	0	0
SOX8	30812	broad.mit.edu	37	16	1035270	1035270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:1035270C>T	uc002ckn.2	+	3	1340	c.1225C>T	c.(1225-1227)CAC>TAC	p.H409Y		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	409					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				CCCCTGCTTCCACTCGCCGCG	0.692		NA											10	40					0	0	0	0
GLYR1	84656	broad.mit.edu	37	16	4861228	4861228	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:4861228G>T	uc002cxx.3	-	15	1567	c.1530C>A	c.(1528-1530)GCC>GCA	p.A510A	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.A424A|GLYR1_uc002cya.2_Silent_p.A504A|GLYR1_uc010uxv.1_Silent_p.A429A	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	510					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CCAGCGCAATGGCTAAGCGGA	0.493		NA											35	119					4.63e-21	8.49e-21	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858285	9858285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:9858285G>T	uc002czo.3	-	13	3664	c.3116C>A	c.(3115-3117)GCA>GAA	p.A1039E	GRIN2A_uc010uym.1_Missense_Mutation_p.A1039E|GRIN2A_uc010uyn.1_Missense_Mutation_p.A882E|GRIN2A_uc002czr.3_Missense_Mutation_p.A1039E	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1039	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTATTCTCTGCTGTTGCCTC	0.537		NA											88	101					4.93e-40	9.41e-40	1	0
TMC5	79838	broad.mit.edu	37	16	19488760	19488760	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:19488760A>T	uc002dgc.3	+	13	2840	c.2091_splice	c.e13-2	p.R697_splice	TMC5_uc010vaq.1_Splice_Site_p.R645_splice|TMC5_uc002dgb.3_Splice_Site_p.R697_splice|TMC5_uc010var.1_Splice_Site_p.R697_splice|TMC5_uc002dgd.1_Splice_Site_p.R451_splice|TMC5_uc002dge.3_Splice_Site_p.R451_splice|TMC5_uc002dgf.3_Splice_Site_p.R380_splice|TMC5_uc002dgg.3_Splice_Site_p.R338_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a							integral to membrane				skin(1)	1						TCTTCTGTTTAGAAACATCTT	0.249		NA											15	48					0	0	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203779	23203779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:23203779C>A	uc002dlm.1	+	4	864	c.725C>A	c.(724-726)CCT>CAT	p.P242H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	242	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCACAGGTGCCTCTGGAGAAG	0.498		NA											19	61					7.08e-05	0.000101615	1	0
STX4	6810	broad.mit.edu	37	16	31049253	31049253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:31049253G>C	uc002eal.2	+	6	609	c.385G>C	c.(385-387)GTC>CTC	p.V129L	STX4_uc002eak.2_Missense_Mutation_p.V127L|STX4_uc002eam.2_Missense_Mutation_p.V51L	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	129	Cytoplasmic (Potential).|Potential.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						TTAGCATGGGGTCCTGTCCCA	0.537		NA											21	83					0	0	0	0
HEATR3	55027	broad.mit.edu	37	16	50118116	50118116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50118116A>G	uc002efw.2	+	9	1366	c.1204A>G	c.(1204-1206)AGT>GGT	p.S402G	HEATR3_uc002efx.2_Missense_Mutation_p.S316G	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	402							binding			ovary(1)|skin(1)	2						GAATTCCTTCAGTGAGTGCGG	0.502		NA											15	81					0	0	0	0
NOD2	64127	broad.mit.edu	37	16	50733572	50733572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50733572C>A	uc002egm.1	+	2	352	c.247C>A	c.(247-249)CAC>AAC	p.H83N	NOD2_uc010cbj.1_Missense_Mutation_p.H56N|NOD2_uc010cbk.1_Missense_Mutation_p.H56N|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	83	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GCCTCTCTCCCACTTGGCCAG	0.637		NA											53	49					9.55e-19	1.74e-18	1	0
SALL1	6299	broad.mit.edu	37	16	51174936	51174936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:51174936G>T	uc010vgs.1	-	2	1228	c.1197C>A	c.(1195-1197)AAC>AAA	p.N399K	SALL1_uc010vgr.1_Missense_Mutation_p.N302K|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	399					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAAAACCGAGTTAGCGGAGG	0.498		NA											32	148					1.63e-12	2.77e-12	1	0
SLC12A3	6559	broad.mit.edu	37	16	56899255	56899255	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899255C>T	uc010ccm.2	+	1	137	c.108C>T	c.(106-108)GCC>GCT	p.A36A	SLC12A3_uc002ekd.3_Silent_p.A36A|SLC12A3_uc010ccn.2_Silent_p.A36A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	36	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CACCAGCTGCCTATGACAGCA	0.597		NA											35	162					0	0	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899257	56899257	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899257A>T	uc010ccm.2	+	1	139	c.110A>T	c.(109-111)TAT>TTT	p.Y37F	SLC12A3_uc002ekd.3_Missense_Mutation_p.Y37F|SLC12A3_uc010ccn.2_Missense_Mutation_p.Y37F	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	37	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGCCTATGACAGCAGC	0.597		NA											38	164					0	0	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917998	56917998	+	Silent	SNP	G	G	T	rs138625602		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56917998G>T	uc010ccm.2	+	14	1736	c.1707G>T	c.(1705-1707)GCG>GCT	p.A569A	SLC12A3_uc002ekd.3_Silent_p.A569A|SLC12A3_uc010ccn.2_Silent_p.A568A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	569	Cytoplasmic (Potential).		A -> V (in GS).|A -> E (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACAAGTGGGCGGCGCTGTTTG	0.592		NA											10	83					1.09e-07	1.69e-07	1	0
ZFP90	146198	broad.mit.edu	37	16	68591909	68591909	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:68591909G>A	uc010cff.2	+	3	334	c.42G>A	c.(40-42)GTG>GTA	p.V14V	ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Silent_p.V14V|ZFP90_uc002ewe.2_Silent_p.V14V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	14	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGGAATCAGTGACATTCAAAG	0.463		NA											22	135					0	0	0	0
HAS3	3038	broad.mit.edu	37	16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:69148385G>C	uc010cfh.2	+	4	1102	c.878G>C	c.(877-879)AGC>ACC	p.S293T	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.S293T	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	293	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597		NA											26	87					0	0	0	0
DHX38	9785	broad.mit.edu	37	16	72132917	72132917	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:72132917T>A	uc002fcb.2	+	6	1211	c.856T>A	c.(856-858)TCC>ACC	p.S286T	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	286					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				ACACTTGGGGTCCACCCCGCG	0.617		NA											8	23					0	0	0	0
NUDT7	283927	broad.mit.edu	37	16	77759434	77759434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77759434G>T	uc010chd.2	+	2	211	c.142G>T	c.(142-144)GCT>TCT	p.A48S	NUDT7_uc002fff.2_Missense_Mutation_p.A48S|NUDT7_uc010vnj.1_Missense_Mutation_p.A48S	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	48	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						GCCATTGGTGGCTAAAGAAGG	0.428		NA											12	50					0.00136819	0.00188976	1	0
VAT1L	57687	broad.mit.edu	37	16	77918505	77918505	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77918505T>C	uc002ffg.1	+	7	980	c.883T>C	c.(883-885)TGG>CGG	p.W295R		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	295							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTCTTTGCAGTGGTGGCAGGT	0.502		NA											8	23					0	0	0	0
SNAI3	333929	broad.mit.edu	37	16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:88747799C>T	uc002flj.2	-	2	468	c.400G>A	c.(400-402)GGG>AGG	p.G134R	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	134					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667		NA											59	75					0	0	0	0
DPEP1	1800	broad.mit.edu	37	16	89696828	89696828	+	Missense_Mutation	SNP	G	G	A	rs150374214	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:89696828G>A	uc010cin.2	+	2	213	c.10G>A	c.(10-12)GGA>AGA	p.G4R	DPEP1_uc002fnr.3_Missense_Mutation_p.G4R|DPEP1_uc002fns.3_Missense_Mutation_p.G4R	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	4					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATGTGGAGCGGATGGTGGCT	0.632		NA											16	91					0	0	0	0
KIAA0664	23277	broad.mit.edu	37	17	2604689	2604689	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:2604689G>A	uc002fuy.1	-	6	842	c.756C>T	c.(754-756)ACC>ACT	p.T252T	KIAA0664_uc002fux.1_Silent_p.T184T	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	252							binding			breast(2)	2						GTGTGGACGCGGTGATGCTGA	0.652		NA											10	2					0	0	0	0
USP6	9098	broad.mit.edu	37	17	5050447	5050447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:5050447G>A	uc002gau.1	+	29	4619	c.2389G>A	c.(2389-2391)GTC>ATC	p.V797I	USP6_uc002gav.1_Missense_Mutation_p.V797I|USP6_uc010ckz.1_Missense_Mutation_p.V480I	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	797					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TGAAATTCCTGTCCCTTCATC	0.398		NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								17	39					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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	14					0	0	0	0
ELAC2	60528	broad.mit.edu	37	17	12916588	12916588	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:12916588C>A	uc002gnz.3	-	6	590	c.495G>T	c.(493-495)GTG>GTT	p.V165V	ELAC2_uc010vvo.1_5'UTR|ELAC2_uc010vvp.1_Silent_p.V146V|ELAC2_uc010vvq.1_Silent_p.V165V|ELAC2_uc010vvr.1_Silent_p.V165V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	165				V -> M (in Ref. 2; AK001392).	tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						AGTGGGGCCGCACAGCTACAA	0.493		NA							Hereditary_Prostate_Cancer				9	15					3.1e-07	4.78e-07	1	0
TRIM16	10626	broad.mit.edu	37	17	15517267	15517267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:15517267C>G	uc002gor.1	-	9	2018	c.1681G>C	c.(1681-1683)GGG>CGG	p.G561R	CDRT1_uc002gov.3_Missense_Mutation_p.G251R			O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;	Error:Variant_position_missing_in_O95361_after_alignment					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GGATCGTACCCTGGCTTGGTT	0.478		NA											8	121					0	0	0	0
NCOR1	9611	broad.mit.edu	37	17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:16068406G>C	uc002gpo.2	-	5	745	c.505C>G	c.(505-507)CAA>GAA	p.Q169E	NCOR1_uc002gpn.2_Missense_Mutation_p.Q169E|NCOR1_uc002gpp.1_Missense_Mutation_p.Q60E|NCOR1_uc002gpr.2_Missense_Mutation_p.Q60E|NCOR1_uc002gps.1_Missense_Mutation_p.Q169E|NCOR1_uc010coz.1_Translation_Start_Site|NCOR1_uc010cpb.1_Missense_Mutation_p.Q169E|NCOR1_uc010cpa.1_Missense_Mutation_p.Q169E|NCOR1_uc002gpu.2_Missense_Mutation_p.Q169E	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	169	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393		NA											3	98					0	0	0	0
C17orf66	256957	broad.mit.edu	37	17	34182684	34182684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:34182684T>A	uc002hke.1	-	14	1498	c.1349A>T	c.(1348-1350)CAG>CTG	p.Q450L	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q410L	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	450							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCACAGCCTGGTGGTTTTC	0.532		NA											43	43					0	0	0	0
CCR7	1236	broad.mit.edu	37	17	38711638	38711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:38711638G>A	uc002huw.2	-	3	556	c.493C>T	c.(493-495)CAC>TAC	p.H165Y		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	165	Cytoplasmic (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				CGGTGGCGGTGAGCTGAGACA	0.552		NA											5	31					0	0	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:39316759T>C	uc002hwc.2	-	1	225	c.185A>G	c.(184-186)CAC>CGC	p.H62R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	62	9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662		NA											3	122					0	0	0	0
BECN1	8678	broad.mit.edu	37	17	40970594	40970594	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:40970594G>C	uc002ibo.3	-	6	591	c.456C>G	c.(454-456)CTC>CTG	p.L152L	BECN1_uc010whb.1_Silent_p.L65L|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Silent_p.L152L	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	152	Potential.				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGTGACGTTGAGCTGAGTGT	0.512		NA											14	57					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41226510	41226510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:41226510C>T	uc002icq.2	-	14	4745	c.4513G>A	c.(4513-4515)GAT>AAT	p.D1505N	BRCA1_uc010whp.1_Missense_Mutation_p.D354N|BRCA1_uc010whl.1_Missense_Mutation_p.D401N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1434N|BRCA1_uc002icu.2_Missense_Mutation_p.D401N|BRCA1_uc010cyx.2_Missense_Mutation_p.D1458N|BRCA1_uc002ict.2_Missense_Mutation_p.D1526N|BRCA1_uc010whn.1_5'UTR|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.D234N|BRCA1_uc002idc.1_Missense_Mutation_p.D401N|BRCA1_uc010whr.1_Missense_Mutation_p.D355N	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1505					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCTATCATCTAATGATGGG	0.443		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			11	38					0	0	0	0
STRADA	92335	broad.mit.edu	37	17	61781806	61781806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:61781806G>A	uc002jbm.2	-	11	1154	c.995C>T	c.(994-996)CCC>CTC	p.P332L	STRADA_uc002jbn.2_Missense_Mutation_p.P274L|STRADA_uc002jbo.2_Missense_Mutation_p.P295L|STRADA_uc002jbp.2_Missense_Mutation_p.P295L|STRADA_uc002jbq.2_Missense_Mutation_p.P274L|STRADA_uc010wpq.1_Missense_Mutation_p.P288L|STRADA_uc010wpr.1_Missense_Mutation_p.P303L|STRADA_uc010ddw.2_Missense_Mutation_p.P303L|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	332	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						GGAGGGCCGGGGGGTGCTGGT	0.642		NA											23	22					0	0	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854905	62854905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:62854905G>A	uc002jey.2	-	12	5332	c.4801C>T	c.(4801-4803)CTC>TTC	p.L1601F	LRRC37A3_uc010wqg.1_Missense_Mutation_p.L719F|LRRC37A3_uc002jex.1_Missense_Mutation_p.L578F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L639F	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601	Helical; (Potential).					integral to membrane					0						ACCTCAATGAGGCAGAGAAGT	0.378		NA											9	48					0	0	0	0
RGS9	8787	broad.mit.edu	37	17	63133680	63133680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:63133680C>A	uc002jfe.2	+	1	132	c.22C>A	c.(22-24)CAG>AAG	p.Q8K	RGS9_uc010dem.2_Missense_Mutation_p.Q8K|RGS9_uc002jfd.2_Missense_Mutation_p.Q8K|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	8					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						ACACCAAGGCCAGCAGTACAG	0.617		NA											18	43					4.63e-17	8.3e-17	1	0
ITGB4	3691	broad.mit.edu	37	17	73738820	73738820	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:73738820C>T	uc002jpg.2	+	25	3127	c.2940C>T	c.(2938-2940)AAC>AAT	p.N980N	ITGB4_uc002jph.2_Silent_p.N980N|ITGB4_uc002jpi.3_Silent_p.N980N|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.2_Silent_p.N980N	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	980	Cytoplasmic (Potential).|Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGTAAACATCACCATCA	0.443		NA											8	69					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	G	A	rs144070062	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:78321975G>A	uc002jyh.1	+	4	4282	c.4059G>A	c.(4057-4059)GCG>GCA	p.A1353A		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617		NA											31	42					0	0	0	0
C18orf1	753	broad.mit.edu	37	18	13621178	13621178	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:13621178A>T	uc002ksa.2	+	5	912	c.244A>T	c.(244-246)ATC>TTC	p.I82F	C18orf1_uc002ksb.2_Missense_Mutation_p.I82F|C18orf1_uc002kse.2_Missense_Mutation_p.I45F|C18orf1_uc002ksf.2_Missense_Mutation_p.I45F|C18orf1_uc002ksg.1_Missense_Mutation_p.I5F|C18orf1_uc002ksh.1_Missense_Mutation_p.I24F|C18orf1_uc002ksi.1_Missense_Mutation_p.I24F	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	82	Helical; (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		GGTGGTGGTCATCGTCTGCCT	0.617		NA											41	110					0	0	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368510	55368510	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:55368510G>A	uc002lgw.2	-	4	429	c.429C>T	c.(427-429)ACC>ACT	p.T143T	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	143	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GCACTAGTGTGGTGTACCAAG	0.458		NA							Byler_disease				23	18					0	0	0	0
CNDP1	84735	broad.mit.edu	37	18	72245483	72245483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:72245483C>T	uc002llq.2	+	9	1299	c.1088C>T	c.(1087-1089)ACA>ATA	p.T363I	CNDP1_uc002lls.2_Missense_Mutation_p.T166I	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	363					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAACTAAAACAGTCATACCT	0.423		NA											22	21					0	0	0	0
GALR1	2587	broad.mit.edu	37	18	74962925	74962925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:74962925C>G	uc002lms.3	+	1	918	c.421C>G	c.(421-423)CGG>GGG	p.R141G		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	141	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGCACTCGCGGCGCTCCTC	0.652		NA											16	18					0	0	0	0
ADNP2	22850	broad.mit.edu	37	18	77896155	77896155	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:77896155G>C	uc002lnw.2	+	4	3314	c.2859G>C	c.(2857-2859)CCG>CCC	p.P953P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	953					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGCCCAGCCGGGTTTTATTC	0.532		NA											22	29					0	0	0	0
SLC25A23	79085	broad.mit.edu	37	19	6442073	6442073	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:6442073G>T	uc002mex.1	-	10	1462	c.1320C>A	c.(1318-1320)CCC>CCA	p.P440P	SLC25A23_uc010duu.1_Intron|SLC25A23_uc002meu.2_Intron|SLC25A23_uc002mev.2_Intron|SLC25A23_uc002mew.1_Intron|SLC25A23_uc010xjd.1_Silent_p.P201P	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	440	Solcar 3.|Helical; Name=6; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						TCATGAAGTTGGGGGCGATCC	0.622		NA											8	48					0.000274275	0.000385606	1	0
RAB11B	9230	broad.mit.edu	37	19	8464858	8464858	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:8464858G>T	uc002mju.3	+	2	248	c.152G>T	c.(151-153)CGC>CTC	p.R51L	RAB11B_uc010xkd.1_Missense_Mutation_p.R51L	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						TTCGCCACCCGCAGCATCCAG	0.662		NA											16	42					1.57e-10	2.61e-10	1	0
MUC16	94025	broad.mit.edu	37	19	9062568	9062568	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9062568G>T	uc002mkp.2	-	3	25082	c.24878C>A	c.(24877-24879)TCT>TAT	p.S8293Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8295	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACAGGAAGAGAAGCGGAAGG	0.512		NA											16	79					1.36e-06	2.06e-06	1	0
MUC16	94025	broad.mit.edu	37	19	9071210	9071210	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9071210T>C	uc002mkp.2	-	3	16440	c.16236A>G	c.(16234-16236)ACA>ACG	p.T5412T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5414	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T5412K(1)		lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCGGCTTCTGTGTGTGCAG	0.502		NA											93	449					0	0	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422874	11422874	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11422874C>A	uc002mqv.1	+	6	813	c.663C>A	c.(661-663)AGC>AGA	p.S221R	TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	221	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						TGAGTGGGAGCTCTCTGGGAG	0.398		NA											4	19					0.00024832	0.000350478	1	0
LPPR2	64748	broad.mit.edu	37	19	11470311	11470311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11470311C>T	uc002mre.1	+	4	507	c.170C>T	c.(169-171)GCC>GTC	p.A57V	LPPR2_uc002mrf.1_Missense_Mutation_p.A32V|LPPR2_uc010dxy.1_5'Flank	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	57						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						AGTACCTACGCCAAGCCCTAC	0.602		NA											6	52					0	0	0	0
ZNF625	90589	broad.mit.edu	37	19	12256755	12256756	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256755_12256756CC>AA	uc002mth.2	-	4	627_628	c.277_278GG>TT	c.(277-279)GGG>TTG	p.G93L	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.G127L	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTTTCCCCCCAGTGTGAGCC	0.426		NA											28	97					0	0	0	0
TECR	9524	broad.mit.edu	37	19	14674476	14674476	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14674476A>T	uc002mza.2	+	4	252	c.125A>T	c.(124-126)CAG>CTG	p.Q42L	TECR_uc002mzb.2_Missense_Mutation_p.Q57L|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Missense_Mutation_p.Q42L|TECR_uc002mze.2_5'Flank|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	42					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						GCAGATCCGCAGTGGTACCCC	0.701		NA											13	41					0	0	0	0
EMR2	30817	broad.mit.edu	37	19	14862462	14862462	+	Missense_Mutation	SNP	C	C	G	rs143659792	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14862462C>G	uc002mzp.1	-	16	2266	c.1810G>C	c.(1810-1812)GGT>CGT	p.G604R	EMR2_uc010dzs.1_Missense_Mutation_p.G63R|EMR2_uc010xnw.1_Missense_Mutation_p.G546R|EMR2_uc002mzo.1_Missense_Mutation_p.G593R|EMR2_uc002mzq.1_Missense_Mutation_p.G544R|EMR2_uc002mzr.1_Missense_Mutation_p.G555R|EMR2_uc002mzs.1_Missense_Mutation_p.G462R|EMR2_uc002mzt.1_Missense_Mutation_p.G500R|EMR2_uc002mzu.1_Missense_Mutation_p.G511R|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	604	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						TGCAAGGTACCGGCGATGATG	0.567		NA											25	43					0	0	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004623	18004623	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18004623T>A	uc002nhr.3	+	15	2216	c.1869T>A	c.(1867-1869)GCT>GCA	p.A623A		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	623	Cytoplasmic (Potential).				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			skin(2)|ovary(1)|central_nervous_system(1)	4						TGGAGGGGGCTGGCTCTTGGA	0.602		NA											5	10					0	0	0	0
IL12RB1	3594	broad.mit.edu	37	19	18179338	18179338	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18179338T>A	uc002nhw.1	-	11	1254	c.1190_splice	c.e11-1	p.A397_splice	IL12RB1_uc010xqb.1_Splice_Site_p.A397_splice|IL12RB1_uc002nhx.1_Splice_Site_p.A437_splice	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TGTAGGTTGCTGGAAGGATAA	0.358		NA											33	197					0	0	0	0
HOMER3	9454	broad.mit.edu	37	19	19042356	19042356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:19042356G>T	uc002nku.2	-	7	1422	c.769C>A	c.(769-771)CTG>ATG	p.L257M	HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.L221M|HOMER3_uc010ebz.2_Missense_Mutation_p.L257M|HOMER3_uc002nkw.2_Missense_Mutation_p.L257M|HOMER3_uc002nkv.2_Missense_Mutation_p.L257M	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	257	Potential.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			AGCTGTTCCAGCGACTGGCCC	0.637		NA											43	91					7.53e-24	1.4e-23	1	0
ZNF737	100129842	broad.mit.edu	37	19	20727933	20727933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:20727933T>A	uc002npa.2	-	4	1256	c.1076A>T	c.(1075-1077)CAC>CTC	p.H359L		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AATTATCTTGTGTGTAGTAAG	0.388		NA											20	73					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22154889	22154889	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:22154889T>C	uc002nqp.2	-	6	2714	c.2565_splice	c.e6-1	p.N855_splice	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAATGTACTAAAGCCTTTG	0.358		NA											30	55					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30935396	30935396	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:30935396T>A	uc002nsu.1	+	2	1065	c.927T>A	c.(925-927)GCT>GCA	p.A309A	ZNF536_uc010edd.1_Silent_p.A309A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	309	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ACTTCGCGGCTTCGCAGGAGG	0.642		NA											84	116					0	0	0	0
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:35757268C>T	uc002nyl.2	+	6	1152	c.929C>T	c.(928-930)GCC>GTC	p.A310V	LSR_uc002nym.2_Missense_Mutation_p.A291V|LSR_uc002nyn.2_Missense_Mutation_p.A242V|LSR_uc002nyo.2_Missense_Mutation_p.A291V|LSR_uc010xsr.1_Missense_Mutation_p.A202V|LSR_uc002nyp.2_Missense_Mutation_p.A273V|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617		NA											5	174					0	0	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357267	36357267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:36357267C>T	uc002ocb.3	+	15	2212	c.2000C>T	c.(1999-2001)CCT>CTT	p.P667L	KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Missense_Mutation_p.P614L|KIRREL2_uc002ocd.3_Missense_Mutation_p.P629L|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	667	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACCCCACCCTCGAGCTTTC	0.612		NA											77	155					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:40367841T>G	uc002omp.3	-	29	13127	c.13119A>C	c.(13117-13119)GCA>GCC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4373	TIL 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627		NA											9	27					0	0	0	0
ZNF222	7673	broad.mit.edu	37	19	44536610	44536610	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:44536610A>G	uc002oyc.2	+	4	966	c.783A>G	c.(781-783)ATA>ATG	p.I261M	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.I301M|ZNF222_uc002oyd.2_Missense_Mutation_p.I207M	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	261	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				AATGTGAAATATGTGGTAAGA	0.393		NA											39	99					0	0	0	0
LIG1	3978	broad.mit.edu	37	19	48620966	48620966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:48620966G>A	uc002pia.1	-	26	2632	c.2512C>T	c.(2512-2514)CCC>TCC	p.P838S	LIG1_uc010xze.1_Missense_Mutation_p.P531S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.P770S|LIG1_uc010xzg.1_Missense_Mutation_p.P807S	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	838					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACAGCGCTGGGGTCCAGCCAG	0.662		NA						NER					12	26					0	0	0	0
HRC	3270	broad.mit.edu	37	19	49658346	49658346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:49658346G>T	uc002pmv.2	-	1	336	c.149C>A	c.(148-150)TCC>TAC	p.S50Y	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	50					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTCCTCGGAGAGCCCGGC	0.602		NA											19	93					2.32e-17	4.19e-17	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022385	51022385	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:51022385C>A	uc002pss.2	-	3	722	c.585G>T	c.(583-585)CTG>CTT	p.L195L		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	195	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGATGTATTCCAGCCGCTTGA	0.652		NA											9	28					2.18e-05	3.19e-05	1	0
ZNF616	90317	broad.mit.edu	37	19	52619407	52619407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:52619407C>A	uc002pym.2	-	4	1293	c.1010G>T	c.(1009-1011)AGC>ATC	p.S337I	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	337	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAGGTTTGAGCTCCGTTTAAA	0.398		NA											32	120					6.51e-10	1.07e-09	1	0
VN1R2	317701	broad.mit.edu	37	19	53761833	53761833	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:53761833G>C	uc002qbi.2	+	1	289	c.205G>C	c.(205-207)GTG>CTG	p.V69L		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	69	Helical; Name=1; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		tctttgtcttgtgtctttatt	0.055		NA											4	7					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54313795	54313795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:54313795T>A	uc002qch.3	-	3	1338	c.1118A>T	c.(1117-1119)TAC>TTC	p.Y373F	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.Y373F|NLRP12_uc002qcj.3_Missense_Mutation_p.Y373F|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.Y373F	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	373	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGTAGAAGTATTCCTTCCT	0.557		NA											79	225					0	0	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55377864	55377864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:55377864C>A	uc002qhl.3	+	8	1208	c.1145C>A	c.(1144-1146)ACA>AAA	p.T382K	KIR3DL2_uc010esh.2_Missense_Mutation_p.T365K|KIR3DL2_uc002qho.3_Missense_Mutation_p.T382K			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	382	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GGGGACAGAACAGTGAATAGG	0.532		NA											25	123					1.85e-09	3.01e-09	1	0
NLRP11	204801	broad.mit.edu	37	19	56300307	56300307	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:56300307T>A	uc010ygf.1	-	11	3432	c.2721A>T	c.(2719-2721)CGA>CGT	p.R907R	NLRP11_uc002qlz.2_Silent_p.R754R|NLRP11_uc002qmb.2_Silent_p.R808R|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	907							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGCAAGAGATCGACAGCAGG	0.458		NA											14	36					0	0	0	0
ZFP28	140612	broad.mit.edu	37	19	57066324	57066324	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:57066324A>G	uc002qnj.2	+	8	2241	c.2170A>G	c.(2170-2172)ACT>GCT	p.T724A	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGACTGCACACTGGCCAAAG	0.413		NA											19	59					0	0	0	0
ZNF530	348327	broad.mit.edu	37	19	58118332	58118332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58118332G>C	uc002qpk.2	+	3	1659	c.1439G>C	c.(1438-1440)CGA>CCA	p.R480P	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACCTCATTCGACACCAGACA	0.438		NA											35	33					0	0	0	0
ZNF587	84914	broad.mit.edu	37	19	58370975	58370975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58370975C>T	uc002qql.2	+	3	1333	c.1195C>T	c.(1195-1197)CAG>TAG	p.Q399*	ZNF587_uc002qqb.2_Nonsense_Mutation_p.Q356*|ZNF587_uc010yhh.1_Nonsense_Mutation_p.Q356*|ZNF587_uc002qqi.1_Nonsense_Mutation_p.Q356*|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Nonsense_Mutation_p.Q398*	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	399	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTTCACCATCAGCGAGGTCA	0.473		NA											66	97					0	0	0	0
MSGN1	343930	broad.mit.edu	37	2	17998364	17998364	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:17998364G>A	uc010yjt.1	+	1	579	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	193					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCAGAGCGCGTGAGCTCCAT	0.542		NA											24	21					0	0	0	0
ASXL2	55252	broad.mit.edu	37	2	26101041	26101041	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:26101041G>T	uc002rgs.2	-	1	272	c.51C>A	c.(49-51)GCC>GCA	p.A17A		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACCGTCTTGGCGGCCTCCG	0.667		NA											7	146					1.11e-12	1.89e-12	1	0
RASGRP3	25780	broad.mit.edu	37	2	33740206	33740206	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:33740206G>C	uc002rox.2	+	4	630	c.3G>C	c.(1-3)ATG>ATC	p.M1I	RASGRP3_uc010ync.1_Missense_Mutation_p.M1I|RASGRP3_uc002roy.2_Missense_Mutation_p.M1I	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	1					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					AAATAACCATGGGATCAAGTG	0.428		NA											20	89					0	0	0	0
CRIM1	51232	broad.mit.edu	37	2	36583743	36583743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:36583743A>G	uc002rpd.2	+	1	347	c.308A>G	c.(307-309)GAG>GGG	p.E103G		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	103	IGFBP N-terminal.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCCTCACCGAGTACGAAGCG	0.687		NA											11	53					0	0	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235842	37235842	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:37235842T>C	uc002rpp.1	-	28	4530	c.4434A>G	c.(4432-4434)CCA>CCG	p.P1478P	HEATR5B_uc010ezy.1_Silent_p.P62P|HEATR5B_uc002rpq.3_Silent_p.P62P	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1478							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GACTGAGTGTTGGTAGTTCAG	0.413		NA											12	79					0	0	0	0
EPAS1	2034	broad.mit.edu	37	2	46607729	46607729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:46607729C>T	uc002ruv.2	+	12	2406	c.1918C>T	c.(1918-1920)CCC>TCC	p.P640S	EPAS1_uc002ruw.2_Missense_Mutation_p.P106S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	640					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCCAGTGGCCCCCAGATCC	0.617		NA											52	100					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874155	48874155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:48874155C>T	uc010yol.1	+	5	2970	c.2923C>T	c.(2923-2925)CCC>TCC	p.P975S	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P1022S|GTF2A1L_uc002rws.1_Missense_Mutation_p.P318S|GTF2A1L_uc010yom.1_Missense_Mutation_p.P284S|GTF2A1L_uc002rwt.2_Missense_Mutation_p.P318S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	975					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATAGAGGAACCCAGCAACAT	0.413		NA											7	25					0	0	0	0
FSHR	2492	broad.mit.edu	37	2	49190015	49190015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:49190015T>A	uc002rww.2	-	10	2019	c.1945A>T	c.(1945-1947)ATG>TTG	p.M649L	FSHR_uc002rwx.2_Missense_Mutation_p.M587L|FSHR_uc010fbn.2_Missense_Mutation_p.M623L	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	649	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGCTTGCATTTCATAGCAG	0.483		NA							Gonadal_Dysgenesis_46_XX				13	40					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50724827	50724827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:50724827C>A	uc010fbq.2	-	14	4120	c.2643G>T	c.(2641-2643)AGG>AGT	p.R881S	NRXN1_uc002rxb.3_Missense_Mutation_p.R513S|NRXN1_uc002rxe.3_Missense_Mutation_p.R841S|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGAACTCCAGCCTAGTATGAT	0.388		NA											12	46					7.93e-07	1.21e-06	1	0
PSME4	23198	broad.mit.edu	37	2	54137242	54137242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:54137242C>A	uc002rxp.2	-	21	2598	c.2542G>T	c.(2542-2544)GAG>TAG	p.E848*	PSME4_uc010yop.1_Nonsense_Mutation_p.E734*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Nonsense_Mutation_p.E223*|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	848					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTTTGTCTCTTCCAAGGAC	0.333		NA											91	105					1.09e-41	2.09e-41	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69043495	69043495	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:69043495G>T	uc002seu.2	+	7	1242	c.878_splice	c.e7+1	p.R293_splice	ARHGAP25_uc010fdg.2_Splice_Site_p.R294_splice|ARHGAP25_uc010yql.1_Splice_Site_p.R254_splice|ARHGAP25_uc002sev.2_Splice_Site_p.R287_splice|ARHGAP25_uc002sew.2_Splice_Site_p.R286_splice|ARHGAP25_uc002sex.2_Splice_Site_p.R287_splice|ARHGAP25_uc010fdh.1_Splice_Site|ARHGAP25_uc002sey.2_Splice_Site_p.R20_splice	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						ACATCTGCAGGTGAGAGGCCC	0.488		NA											13	50					7.93e-07	1.21e-06	1	0
EXOC6B	23233	broad.mit.edu	37	2	72722617	72722617	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:72722617T>A	uc010fep.2	-	15	1633	c.1495A>T	c.(1495-1497)AAC>TAC	p.N499Y	EXOC6B_uc002sij.2_Missense_Mutation_p.N499Y	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	499					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TTAATTTGGTTGTAAACTTTT	0.313		NA											3	19					0	0	0	0
DQX1	165545	broad.mit.edu	37	2	74750470	74750470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74750470T>A	uc010yrw.1	-	5	1176	c.1011A>T	c.(1009-1011)CAA>CAT	p.Q337H	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	337	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CGATGACATGTTGGATGGAAG	0.542		NA											50	236					0	0	0	0
C2orf65	130951	broad.mit.edu	37	2	74867187	74867187	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74867187C>T	uc002smy.2	-	2	333	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q	C2orf65_uc010ysa.1_Silent_p.Q72Q|C2orf65_uc002smz.2_Silent_p.Q72Q	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	72					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						TGCACTCATGCTGATCTTGTA	0.333		NA											27	26					0	0	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745762	77745762	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:77745762A>T	uc002snr.2	-	3	1648	c.1233T>A	c.(1231-1233)CCT>CCA	p.P411P	LRRTM4_uc002snq.2_Silent_p.P411P|LRRTM4_uc002sns.2_Silent_p.P411P|LRRTM4_uc002snt.2_Silent_p.P412P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GCTCTGCGCCAGGAATCTGAA	0.483		NA											12	62					0	0	0	0
REG1A	5967	broad.mit.edu	37	2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:79348716G>T	uc002snz.2	+	3	196	c.93G>T	c.(91-93)CAG>CAT	p.Q31H	REG1A_uc010ffx.1_Missense_Mutation_p.Q31H|REG1A_uc010ysd.1_Missense_Mutation_p.Q31H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	31					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						AGTTGCCCCAGGCCCGGATCA	0.517		NA											101	219					4.18e-38	7.96e-38	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530349	80530349	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:80530349C>A	uc002sok.1	-	2	866	c.596G>T	c.(595-597)AGT>ATT	p.S199I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	199	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCGCGCCAGACTCTTGAGCTG	0.582		NA								HNSCC(69;0.2)			33	88					3.9e-15	6.91e-15	1	0
ACTR1B	10120	broad.mit.edu	37	2	98275915	98275915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:98275915C>T	uc002syb.2	-	4	423	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	72						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CATGGGGTAGCGGATGGTCAG	0.647		NA											58	139					0	0	0	0
INPP4A	3631	broad.mit.edu	37	2	99155434	99155434	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:99155434G>A	uc002syy.2	+	9	1053	c.660G>A	c.(658-660)TTG>TTA	p.L220L	INPP4A_uc010yvj.1_Silent_p.L220L|INPP4A_uc010yvk.1_Silent_p.L220L|INPP4A_uc002syx.2_Silent_p.L220L|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	220					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						AGGACACTTTGCTGAAATCGG	0.488		NA											7	9					0	0	0	0
AFF3	3899	broad.mit.edu	37	2	100199351	100199351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:100199351C>A	uc002tag.2	-	16	2938	c.2702G>T	c.(2701-2703)CGA>CTA	p.R901L	AFF3_uc002taf.2_Missense_Mutation_p.R926L|AFF3_uc010fiq.1_Missense_Mutation_p.R901L|AFF3_uc010yvr.1_Missense_Mutation_p.R1054L|AFF3_uc002tah.1_Missense_Mutation_p.R926L	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	901					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GCCATTAGGTCGGCTGGAAGA	0.483		NA											29	42					7.38e-10	1.21e-09	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:105889341G>C	uc002tcq.2	-	10	2027	c.1943C>G	c.(1942-1944)TCT>TGT	p.S648C	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.S417C|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.S648C	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	648					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						GTATAAATCAGATTTCTGGAG	0.557		NA											19	46					0	0	0	0
FBLN7	129804	broad.mit.edu	37	2	112942839	112942839	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:112942839C>T	uc002tho.1	+	7	1141	c.870C>T	c.(868-870)ACC>ACT	p.T290T	FBLN7_uc002thn.2_Silent_p.T290T|FBLN7_uc010fki.1_Silent_p.T244T|FBLN7_uc010fkj.1_Silent_p.T156T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	290	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						GCATCAACACCGGTGGAAGCT	0.582		NA											20	89					0	0	0	0
POLR1B	84172	broad.mit.edu	37	2	113316883	113316883	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:113316883A>G	uc002thw.2	+	9	1924	c.1344A>G	c.(1342-1344)CTA>CTG	p.L448L	POLR1B_uc010fkn.2_Silent_p.L392L|POLR1B_uc002thx.2_Silent_p.L309L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Silent_p.L486L|POLR1B_uc002thy.2_Silent_p.L309L|POLR1B_uc010yxo.1_Silent_p.L225L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	448					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						TTGGCCTCCTACAAGATTCTG	0.433		NA											62	215					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141458106	141458106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:141458106G>T	uc002tvj.1	-	41	7484	c.6512C>A	c.(6511-6513)GCC>GAC	p.A2171D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2171	Extracellular (Potential).|EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408		NA								TSP Lung(27;0.18)			14	91					2.63e-14	4.59e-14	1	0
LRP1B	53353	broad.mit.edu	37	2	142004851	142004851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:142004851C>G	uc002tvj.1	-	5	1508	c.536G>C	c.(535-537)AGT>ACT	p.S179T	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	179	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCACACAACTGCAAGTGTA	0.388		NA								TSP Lung(27;0.18)			27	66					0	0	0	0
NMI	9111	broad.mit.edu	37	2	152138463	152138463	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:152138463T>C	uc002txi.2	-	3	506	c.176A>G	c.(175-177)CAG>CGG	p.Q59R	NMI_uc010zbx.1_Missense_Mutation_p.Q59R|NMI_uc002txj.2_Intron	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	59					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAGTACCTGGAATTCTTT	0.284		NA											14	53					0	0	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566132	155566132	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:155566132G>A	uc002tyv.1	+	2	915	c.720G>A	c.(718-720)GAG>GAA	p.E240E	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	240	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	AGACACCTGAGGGTGAGTTCC	0.448		NA											25	70					0	0	0	0
DPP4	1803	broad.mit.edu	37	2	162876781	162876781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:162876781G>T	uc002ubz.2	-	14	1763	c.1202C>A	c.(1201-1203)ACC>AAC	p.T401N	DPP4_uc010fpb.2_Missense_Mutation_p.T77N	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	401	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	GACTTCCCAGGTGCCTTTTGT	0.333		NA											14	48					4.93e-13	8.47e-13	1	0
SCN1A	6323	broad.mit.edu	37	2	166892851	166892851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:166892851C>G	uc010zcz.1	-	16	3121	c.3103G>C	c.(3103-3105)GAT>CAT	p.D1035H	SCN1A_uc002udo.3_Missense_Mutation_p.D915H|SCN1A_uc010fpk.2_Missense_Mutation_p.D887H	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1046						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAATTTCATCTAAAATCTTT	0.318		NA											26	25					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168107290	168107290	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:168107290G>T	uc002udx.2	+	8	9406	c.9388G>T	c.(9388-9390)GCC>TCC	p.A3130S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A2955S|XIRP2_uc010fpq.2_Missense_Mutation_p.A2908S|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2955					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAATCTACTGCCCGACGAAC	0.438		NA											41	42					1.31e-17	2.37e-17	1	0
LRP2	4036	broad.mit.edu	37	2	170028586	170028586	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:170028586A>G	uc002ues.2	-	58	11415	c.11202T>C	c.(11200-11202)CCT>CCC	p.P3734P		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3734	LDL-receptor class A 31.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCCAACGAAGAGGGATGCAGT	0.473		NA											41	45					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179395060	179395060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179395060C>G	uc010zfg.1	-	307	98802	c.98578G>C	c.(98578-98580)GAT>CAT	p.D32860H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26555H|TTN_uc010zfi.1_Missense_Mutation_p.D26488H|TTN_uc010zfj.1_Missense_Mutation_p.D26363H|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33787							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTTGTATCCTGCAACCCA	0.428		NA											27	123					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179419418	179419418	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179419418G>T	uc010zfg.1	-	281	81176	c.80952C>A	c.(80950-80952)ACC>ACA	p.T26984T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T20679T|TTN_uc010zfi.1_Silent_p.T20612T|TTN_uc010zfj.1_Silent_p.T20487T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27911							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGAGAAGGGTGATCTTCT	0.473		NA											61	82					3.84e-29	7.27e-29	1	0
TTN	7273	broad.mit.edu	37	2	179442239	179442239	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179442239T>C	uc010zfg.1	-	273	61345	c.61121_splice	c.e273-1	p.E20374_splice	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.E14069_splice|TTN_uc010zfi.1_Splice_Site_p.E14002_splice|TTN_uc010zfj.1_Splice_Site_p.E13877_splice|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGCCTCTGCAAAGAAAA	0.343		NA											13	34					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179490067	179490067	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179490067T>C	uc010zfg.1	-	190	37001	c.36777A>G	c.(36775-36777)TTA>TTG	p.L12259L	TTN_uc010zfh.1_Silent_p.L5954L|TTN_uc010zfi.1_Silent_p.L5887L|TTN_uc010zfj.1_Silent_p.L5762L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13186							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCATCTTCTAACTTTACAT	0.353		NA											119	90					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179578835	179578835	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179578835C>T	uc010zfg.1	-	89	23042	c.22818G>A	c.(22816-22818)GAG>GAA	p.E7606E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4267E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8533							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGTACACTCCAAGGTAC	0.388		NA											8	36					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179612696	179612696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179612696C>A	uc002unb.2	-	46	14655	c.14431G>T	c.(14431-14433)GAC>TAC	p.D4811Y	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTGTGGTCTTCCAAAGTG	0.483		NA											9	52					0.000274275	0.000385606	1	0
TTN	7273	broad.mit.edu	37	2	179617888	179617888	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179617888A>G	uc010zfg.1	-	45	10547	c.10323T>C	c.(10321-10323)CAT>CAC	p.H3441H	TTN_uc010zfh.1_Silent_p.H3587H|TTN_uc010zfi.1_Silent_p.H3520H|TTN_uc010zfj.1_Silent_p.H3395H|TTN_uc002umz.1_Silent_p.H102H|TTN_uc002unb.2_Silent_p.H3441H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATCCTCTCATGCAAAATTG	0.284		NA											7	30					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801353	185801353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185801353T>A	uc002uph.2	+	4	1824	c.1230T>A	c.(1228-1230)ACT>ACA	p.T410T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TTAACATAACTATACATAAGA	0.383		NA											34	106					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803105	185803105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185803105T>A	uc002uph.2	+	4	3576	c.2982T>A	c.(2980-2982)TAT>TAA	p.Y994*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	994						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GGCTGCGTTATAATTCAGGAA	0.433		NA											44	47					0	0	0	0
COL3A1	1281	broad.mit.edu	37	2	189868759	189868759	+	Missense_Mutation	SNP	C	C	A	rs112640146		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:189868759C>A	uc002uqj.1	+	39	2830	c.2713C>A	c.(2713-2715)CCA>ACA	p.P905T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	905	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATGGGCCCCCAGGTCCTGC	0.527		NA											6	27					0.00116845	0.0016151	1	0
DNAH7	56171	broad.mit.edu	37	2	196753557	196753557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:196753557T>A	uc002utj.3	-	32	5296	c.5195A>T	c.(5194-5196)GAG>GTG	p.E1732V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATCCATTGGCTCAAAAATTAG	0.343		NA											10	33					0	0	0	0
SF3B1	23451	broad.mit.edu	37	2	198263271	198263271	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198263271C>G	uc002uue.2	-	21	3096	c.3048G>C	c.(3046-3048)CTG>CTC	p.L1016L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1016	HEAT 8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTAGGCAGCAGATCTTTAA	0.353		NA											31	75					0	0	0	0
BOLL	66037	broad.mit.edu	37	2	198646475	198646475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198646475G>A	uc002uus.2	-	2	410	c.100C>T	c.(100-102)CGC>TGC	p.R34C	BOLL_uc002uur.2_Missense_Mutation_p.R40C|BOLL_uc002uut.2_Missense_Mutation_p.R46C|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_Missense_Mutation_p.R40C	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	34	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						ACAAAGATGCGATTAGGGATC	0.363		NA											27	98					0	0	0	0
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:201846100G>T	uc002uws.3	-	12	1674	c.1486C>A	c.(1486-1488)CGG>AGG	p.R496R	FAM126B_uc002uwu.2_Silent_p.R470R|FAM126B_uc002uwv.2_Silent_p.R496R	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	496						intracellular				ovary(1)	1						TGACCTAGCCGGTCTTCCTGC	0.512		NA											4	45					0.00024832	0.000350478	1	0
ALS2CR4	65062	broad.mit.edu	37	2	202494493	202494493	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:202494493C>A	uc002uyh.1	-	9	737	c.636G>T	c.(634-636)TGG>TGT	p.W212C	ALS2CR4_uc002uyg.1_Missense_Mutation_p.W204C|ALS2CR4_uc010zho.1_Missense_Mutation_p.W7C|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	236						integral to membrane	protein binding				0						CTCTGGTGGTCCAGGAAGGCT	0.428		NA											26	78					2.45e-14	4.3e-14	1	0
PTH2R	5746	broad.mit.edu	37	2	209302279	209302279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:209302279G>T	uc002vdb.2	+	3	409	c.196G>T	c.(196-198)GAA>TAA	p.E66*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.E77*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	66	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTTCCCTGAATGGGATGG	0.343		NA											23	26					7.88e-14	1.37e-13	1	0
VWC2L	402117	broad.mit.edu	37	2	215301351	215301351	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:215301351A>T	uc002vet.2	+	3	521	c.391_splice	c.e3-2	p.P131_splice	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing							extracellular region					0						ATTTGTTCCTAGCCCTCTCCA	0.428		NA											33	24					0	0	0	0
CXCR1	3577	broad.mit.edu	37	2	219029140	219029140	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:219029140G>T	uc002vhc.2	-	2	914	c.795C>A	c.(793-795)GAC>GAA	p.D265E		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	265	Extracellular (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						TCATGAGGGTGTCTGCCAGCA	0.592		NA											31	98					1.75e-13	3.03e-13	1	0
RHBDD1	84236	broad.mit.edu	37	2	227731999	227731999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:227731999G>T	uc002voi.2	+	3	652	c.531G>T	c.(529-531)TGG>TGT	p.W177C	RHBDD1_uc010fxc.2_Missense_Mutation_p.W177C	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	177						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398		NA											80	79					9.11e-29	1.72e-28	1	0
ALPP	250	broad.mit.edu	37	2	233244620	233244620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233244620C>A	uc002vsq.2	+	5	796	c.631C>A	c.(631-633)CAG>AAG	p.Q211K	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	211						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CATCGCTACGCAGCTCATCTC	0.672		NA											16	85					4.97e-08	7.85e-08	1	0
ALPPL2	251	broad.mit.edu	37	2	233272622	233272622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233272622C>A	uc002vss.3	+	5	596	c.543C>A	c.(541-543)CAC>CAA	p.H181Q		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	181					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCTACGCCCACACGGTGAACC	0.627		NA											25	91					9.58e-11	1.59e-10	1	0
INPP5D	3635	broad.mit.edu	37	2	234112790	234112790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234112790G>C	uc010zmo.1	+	25	3147	c.2994G>C	c.(2992-2994)AAG>AAC	p.K998N	INPP5D_uc010zmp.1_Missense_Mutation_p.K997N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	998	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCTGGGGAAGAACGCAGGGG	0.473		NA											4	11					0	0	0	0
TRPM8	79054	broad.mit.edu	37	2	234862641	234862641	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234862641C>T	uc002vvh.2	+	10	1261	c.1221C>T	c.(1219-1221)GCC>GCT	p.A407A	TRPM8_uc010fyj.2_Silent_p.A95A	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	407	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGCAATGCCATCTCCTACG	0.368		NA											24	8					0	0	0	0
ING5	84289	broad.mit.edu	37	2	242648716	242648716	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:242648716G>T	uc002wcd.2	+	3	220	c.195G>T	c.(193-195)CTG>CTT	p.L65L	ING5_uc002wcc.1_Silent_p.L65L	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	65					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGAGCGCCTGCAGAAGATCC	0.567		NA											58	206					4.17e-28	7.85e-28	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3675353	3675353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3675353T>A	uc002wja.2	-	11	2901	c.2901A>T	c.(2899-2901)TCA>TCT	p.S967S	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Silent_p.S967S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	967	Ig-like C2-type 9.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TCGTGGTGGCTGAGCCTGGGG	0.622		NA											15	60					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677790	3677790	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3677790G>A	uc002wja.2	-	9	2322	c.2322C>T	c.(2320-2322)TGC>TGT	p.C774C	SIGLEC1_uc002wiz.3_Silent_p.C774C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	774	Ig-like C2-type 7.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TCAGGATGCGGCAGGCGTAAA	0.637		NA											23	62					0	0	0	0
LRRN4	164312	broad.mit.edu	37	20	6021815	6021815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:6021815G>T	uc002wmo.2	-	5	2300	c.2076C>A	c.(2074-2076)GGC>GGA	p.G692G		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	692	Helical; (Potential).					integral to membrane				skin(3)	3						CGAGCAACAGGCCGCTGGCGG	0.697		NA											4	17					2.56e-06	3.84e-06	1	0
JAG1	182	broad.mit.edu	37	20	10653648	10653648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:10653648C>A	uc002wnw.2	-	2	604	c.88G>T	c.(88-90)GGG>TGG	p.G30W		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	30					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CCCGAGGCCCCACACACCTGC	0.647		NA							Alagille_Syndrome				9	61					3.86e-05	5.58e-05	1	0
C20orf7	79133	broad.mit.edu	37	20	13789488	13789488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13789488G>A	uc002wom.2	+	8	751	c.718G>A	c.(718-720)GAC>AAC	p.D240N	C20orf7_uc002won.2_Missense_Mutation_p.D212N|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	240					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				TTTTAAATAGGACACTGATGA	0.209		NA											18	25					0	0	0	0
SEL1L2	80343	broad.mit.edu	37	20	13840045	13840045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13840045G>T	uc010gcf.2	-	18	1763	c.1681C>A	c.(1681-1683)CAT>AAT	p.H561N	SEL1L2_uc002woq.3_Missense_Mutation_p.H422N|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	561	Extracellular (Potential).|Sel1-like 10.					integral to membrane	binding			ovary(2)	2						CCATAGTAATGGTAATCTCCA	0.368		NA											6	39					8.13e-05	0.000116264	1	0
SEL1L2	80343	broad.mit.edu	37	20	13868451	13868451	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13868451C>T	uc010gcf.2	-	8	791	c.709G>A	c.(709-711)GTT>ATT	p.V237I	SEL1L2_uc002woq.3_Missense_Mutation_p.V98I|SEL1L2_uc010zrl.1_Missense_Mutation_p.V237I|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	237	Sel1-like 4.|Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						CTTAGGGCAACTTCACAATTC	0.308		NA											24	115					0	0	0	0
BFSP1	631	broad.mit.edu	37	20	17492691	17492691	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:17492691T>C	uc002wpo.2	-	4	596	c.557A>G	c.(556-558)TAT>TGT	p.Y186C	BFSP1_uc002wpp.2_Missense_Mutation_p.Y61C|BFSP1_uc010zrn.1_Missense_Mutation_p.Y47C|BFSP1_uc010zro.1_Missense_Mutation_p.Y47C	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	186	Rod.|Linker 12.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						GATGCTGATATAGGTCTGAAC	0.463		NA											34	41					0	0	0	0
ZNF133	7692	broad.mit.edu	37	20	18296949	18296949	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18296949A>G	uc010gcq.2	+	5	1759	c.1454A>G	c.(1453-1455)CAG>CGG	p.Q485R	ZNF133_uc010zrv.1_Missense_Mutation_p.Q488R|ZNF133_uc010zrw.1_Missense_Mutation_p.Q422R|ZNF133_uc010gcr.2_Missense_Mutation_p.Q485R|ZNF133_uc010zrx.1_Missense_Mutation_p.Q390R|ZNF133_uc002wql.3_Missense_Mutation_p.Q484R|ZNF133_uc010gcs.2_Missense_Mutation_p.Q484R|ZNF133_uc010zry.1_Missense_Mutation_p.Q390R|ZNF133_uc002wqm.2_Missense_Mutation_p.Q485R	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	485	C2H2-type 10.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ATCAGACACCAGAGGACGCAC	0.582		NA											21	55					0	0	0	0
ZNF133	7692	broad.mit.edu	37	20	18297420	18297420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18297420C>T	uc010gcq.2	+	5	2230	c.1925C>T	c.(1924-1926)CCG>CTG	p.P642L	ZNF133_uc010zrv.1_Missense_Mutation_p.P645L|ZNF133_uc010zrw.1_Missense_Mutation_p.P579L|ZNF133_uc010gcr.2_Missense_Mutation_p.P642L|ZNF133_uc010zrx.1_Missense_Mutation_p.P547L|ZNF133_uc002wql.3_Missense_Mutation_p.P641L|ZNF133_uc010gcs.2_Missense_Mutation_p.P641L|ZNF133_uc010zry.1_Missense_Mutation_p.P547L|ZNF133_uc002wqm.2_Missense_Mutation_p.P642L	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	642						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GACCCTGAGCCGTGTGCAGGG	0.537		NA											23	89					0	0	0	0
VSX1	30813	broad.mit.edu	37	20	25057164	25057164	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:25057164C>A	uc002wuf.2	-	5	866	c.831G>T	c.(829-831)GGG>GGT	p.G277G	VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	visual system homeobox 1 isoform a	277	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCCTTATCATCCCCATGGATT	0.343		NA											25	109					3.01e-09	4.88e-09	1	0
REM1	28954	broad.mit.edu	37	20	30065673	30065673	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:30065673C>A	uc002wwa.2	+	3	667	c.383C>A	c.(382-384)ACC>AAC	p.T128N		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	128					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAAGACACCACACTGGTG	0.562		NA											9	24					0.000673444	0.000936605	1	0
PLUNC	51297	broad.mit.edu	37	20	31825963	31825963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:31825963T>A	uc002wyv.2	+	3	333	c.263T>A	c.(262-264)CTT>CAT	p.L88H	PLUNC_uc002wyt.3_Missense_Mutation_p.L88H|PLUNC_uc002wyu.3_Missense_Mutation_p.L88H	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	88					innate immune response	extracellular region	lipid binding				0						GGTGGCCTCCTTGGGGGACTG	0.537		NA											25	97					0	0	0	0
ITCH	83737	broad.mit.edu	37	20	33033227	33033227	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:33033227A>T	uc010geu.1	+	12	1416	c.1224A>T	c.(1222-1224)CAA>CAT	p.Q408H	ITCH_uc002xak.2_Missense_Mutation_p.Q367H|ITCH_uc010zuj.1_Missense_Mutation_p.Q257H	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	408	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						GTCAGCTTCAAGGAGCAATGC	0.433		NA											8	55					0	0	0	0
CHD6	84181	broad.mit.edu	37	20	40101970	40101970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:40101970C>T	uc002xka.1	-	17	2834	c.2656G>A	c.(2656-2658)GAC>AAC	p.D886N	CHD6_uc002xkd.2_Missense_Mutation_p.D864N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	886	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ACCTGCAAGTCATTTTGTGGG	0.498		NA											6	52					0	0	0	0
RIMS4	140730	broad.mit.edu	37	20	43399968	43399968	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:43399968C>G	uc002xms.2	-	2	184	c.184G>C	c.(184-186)GCC>CCC	p.A62P	RIMS4_uc010ggu.2_Missense_Mutation_p.A63P	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	62					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				TCGTGGCTGGCCTGGCGCAGT	0.627		NA											15	89					0	0	0	0
PREX1	57580	broad.mit.edu	37	20	47246080	47246080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:47246080C>T	uc002xtw.1	-	37	4696	c.4673G>A	c.(4672-4674)GGG>GAG	p.G1558E	PREX1_uc002xtv.1_Missense_Mutation_p.G855E	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1558					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCACACTCCCAGCAGCACC	0.622		NA											26	108					0	0	0	0
ADNP	23394	broad.mit.edu	37	20	49508160	49508160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:49508160T>A	uc002xvt.1	-	5	3436	c.3091A>T	c.(3091-3093)AGT>TGT	p.S1031C	ADNP_uc002xvu.1_Missense_Mutation_p.S1031C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	1031						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CCATAGGAACTATTCTTCCAT	0.458		NA											31	120					0	0	0	0
ZNF831	128611	broad.mit.edu	37	20	57829617	57829617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:57829617C>G	uc002yan.2	+	5	4853	c.4853C>G	c.(4852-4854)TCT>TGT	p.S1618C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1618						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CGTCAGGTATCTGGATTAATC	0.488		NA											21	98					0	0	0	0
CDH4	1002	broad.mit.edu	37	20	60511804	60511804	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60511804G>T	uc002ybn.1	+	16	2568	c.2554G>T	c.(2554-2556)GCT>TCT	p.A852S	CDH4_uc002ybp.1_Missense_Mutation_p.A778S|uc002ybr.1_5'Flank	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	852	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACTCCGCGCTGCTGACAA	0.642		NA											8	43					5.18e-06	7.72e-06	1	0
TAF4	6874	broad.mit.edu	37	20	60574130	60574130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60574130C>A	uc002ybs.2	-	12	2822	c.2822G>T	c.(2821-2823)CGG>CTG	p.R941L		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	941					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGCTGTGCCCGGACGTCACT	0.483		NA											108	467					2.21e-46	4.24e-46	1	0
C20orf135	140701	broad.mit.edu	37	20	62493624	62493624	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:62493624A>T	uc002ygx.1	+	1	1059	c.731A>T	c.(730-732)TAC>TTC	p.Y244F	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	244							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTGGTGGTCTACGGCTGGTCT	0.677		NA											9	26					0	0	0	0
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:11058282G>A	uc002yit.1	-	3	366	c.158C>T	c.(157-159)GCT>GTT	p.A53V	BAGE_uc002yiw.1_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403		NA											5	140					0	0	0	0
GART	2618	broad.mit.edu	37	21	34878379	34878379	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878379G>T	uc002yrx.2	-	19	2620	c.2485C>A	c.(2485-2487)CGG>AGG	p.R829R	GART_uc002yrz.2_Silent_p.R829R|GART_uc010gmd.2_Silent_p.R491R|GART_uc002yry.2_Silent_p.R829R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	829	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.383		NA											45	49					1.42e-22	2.61e-22	1	0
GART	2618	broad.mit.edu	37	21	34878381	34878381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878381G>A	uc002yrx.2	-	19	2618	c.2483C>T	c.(2482-2484)ACT>ATT	p.T828I	GART_uc002yrz.2_Missense_Mutation_p.T828I|GART_uc010gmd.2_Missense_Mutation_p.T490I|GART_uc002yry.2_Missense_Mutation_p.T828I	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	828	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	TGGTTCCCGAGTACTGTCTAT	0.378		NA											46	50					0	0	0	0
DOPEY2	9980	broad.mit.edu	37	21	37652588	37652588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:37652588A>G	uc002yvg.2	+	31	6054	c.5975A>G	c.(5974-5976)AAG>AGG	p.K1992R	DOPEY2_uc011aeb.1_Missense_Mutation_p.K1941R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1992					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TCCAGTTGGAAGTCCATTATT	0.289		NA											8	27					0	0	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672100	39672100	+	Missense_Mutation	SNP	A	A	T	rs143222338	by1000genomes	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:39672100A>T	uc002ywv.2	+	4	1219	c.917A>T	c.(916-918)TAC>TTC	p.Y306F	KCNJ15_uc002yww.2_Missense_Mutation_p.Y306F|KCNJ15_uc002ywx.2_Missense_Mutation_p.Y306F	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	306	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GAGGAAATCTACTGGGGTTTT	0.468		NA											23	13					0	0	0	0
BRWD1	54014	broad.mit.edu	37	21	40578121	40578121	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:40578121T>C	uc002yxk.1	-	37	4416	c.4277A>G	c.(4276-4278)CAA>CGA	p.Q1426R	BRWD1_uc010goc.1_Missense_Mutation_p.Q69R|BRWD1_uc002yxl.2_Missense_Mutation_p.Q1426R|BRWD1_uc010god.1_Missense_Mutation_p.Q344R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGAATTTTTGACCAATTTT	0.318		NA											62	30					0	0	0	0
IGSF5	150084	broad.mit.edu	37	21	41142930	41142930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:41142930C>A	uc002yyo.2	+	4	609	c.506C>A	c.(505-507)ACC>AAC	p.T169N		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	169	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				TCACACTGGACCCGGCTCCCG	0.483		NA											31	20					3.99e-17	7.16e-17	1	0
CRYBB3	1417	broad.mit.edu	37	22	25601255	25601255	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:25601255G>A	uc003abo.1	+	5	468	c.396G>A	c.(394-396)GTG>GTA	p.V132V		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	132	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens				0						TGGAGATAGTGGATGATGACG	0.582		NA											18	37					0	0	0	0
APOL6	80830	broad.mit.edu	37	22	36054987	36054987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:36054987G>A	uc003aoe.2	+	3	670	c.376G>A	c.(376-378)GTG>ATG	p.V126M	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	126					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						CACCAGCATCGTGAGTGGTAC	0.577		NA											11	51					0	0	0	0
TST	7263	broad.mit.edu	37	22	37407115	37407115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:37407115C>G	uc003aqg.2	-	2	1547	c.847G>C	c.(847-849)GCC>CCC	p.A283P	TST_uc003aqh.2_Missense_Mutation_p.A283P	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	283	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						TCTGGGGGGGCCCGGCGAAAC	0.632		NA											11	101					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055471	40055471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40055471C>A	uc003ayc.2	+	13	2364	c.2364C>A	c.(2362-2364)TTC>TTA	p.F788L	CACNA1I_uc003ayd.2_Missense_Mutation_p.F753L|CACNA1I_uc003aye.2_Missense_Mutation_p.F703L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F668L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	788	Extracellular (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCAAGTTCAGCCTCCGCA	0.537		NA											5	7					1.24e-05	1.82e-05	1	0
MKL1	57591	broad.mit.edu	37	22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40815102G>A	uc003ayv.1	-	9	1547	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M	MKL1_uc003ayw.1_Missense_Mutation_p.T447M|MKL1_uc010gye.1_Missense_Mutation_p.T447M|MKL1_uc010gyf.1_Missense_Mutation_p.T397M	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	447					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CGTGGAGCCCGTGCTGCCAAA	0.692		NA	T	RBM15	acute megakaryocytic leukemia								9	14					0	0	0	0
ACO2	50	broad.mit.edu	37	22	41922444	41922444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:41922444C>G	uc003bac.2	+	15	1962	c.1940C>G	c.(1939-1941)GCC>GGC	p.A647G	ACO2_uc003bad.2_Missense_Mutation_p.A672G|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	647					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CCTGACACTGCCCGCTACTAC	0.577		NA									OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	100					0	0	0	0
SEPT3	55964	broad.mit.edu	37	22	42383671	42383671	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:42383671C>T	uc003bbr.3	+	5	597	c.459C>T	c.(457-459)TTC>TTT	p.F153F	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.F153F|SEPT3_uc010gyr.2_Silent_p.F89F|SEPT3_uc011apj.1_Silent_p.F89F|SEPT3_uc010gys.2_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	153					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						ACGAGAAGTTCCTGAAGGAGG	0.507		NA											18	44					0	0	0	0
CELSR1	9620	broad.mit.edu	37	22	46760459	46760459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:46760459C>T	uc003bhw.1	-	33	8729	c.8729G>A	c.(8728-8730)AGC>AAC	p.S2910N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2910	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGCCCCCGCTCTCCTGGTC	0.692		NA											50	15					0	0	0	0
ALG12	79087	broad.mit.edu	37	22	50307385	50307385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50307385C>A	uc003biy.2	-	2	303	c.29G>T	c.(28-30)CGG>CTG	p.R10L		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	10					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGGGGCCGCCTGCCTGA	0.602		NA											36	114					1.31e-17	2.37e-17	1	0
CHL1	10752	broad.mit.edu	37	3	367721	367721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:367721T>A	uc003bou.2	+	4	442	c.171T>A	c.(169-171)TGT>TGA	p.C57*	CHL1_uc003bot.2_Nonsense_Mutation_p.C57*|CHL1_uc003bow.1_Nonsense_Mutation_p.C57*|CHL1_uc011asi.1_Nonsense_Mutation_p.C57*	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	57	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAATTGAATGTGAAGCTAAAG	0.348		NA											18	16					0	0	0	0
CHL1	10752	broad.mit.edu	37	3	433478	433478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:433478T>A	uc003bou.2	+	22	3135	c.2864T>A	c.(2863-2865)ATA>AAA	p.I955K	CHL1_uc003bot.2_Missense_Mutation_p.I971K|CHL1_uc003bow.1_Missense_Mutation_p.I955K|CHL1_uc011asi.1_Missense_Mutation_p.I971K	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	955	Fibronectin type-III 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATATCAGATAAGTAAGTAG	0.333		NA											9	24					0	0	0	0
LRRN1	57633	broad.mit.edu	37	3	3886778	3886778	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:3886778C>G	uc003bpt.3	+	2	1214	c.453C>G	c.(451-453)AAC>AAG	p.N151K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	151	LRR 4.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTACATCAACCACAACCAAA	0.398		NA											10	29					0	0	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960130	10960130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:10960130C>T	uc003bvz.2	+	8	1146	c.1112C>T	c.(1111-1113)GCA>GTA	p.A371V		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	371					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGAGGTGGCAGAGTCAGGT	0.567		NA											17	8					0	0	0	0
KCNH8	131096	broad.mit.edu	37	3	19554594	19554594	+	Missense_Mutation	SNP	C	C	T	rs138619397		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:19554594C>T	uc003cbk.1	+	13	2407	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	KCNH8_uc010hex.1_Missense_Mutation_p.R199C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	738	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity	p.R738L(1)		lung(4)|ovary(1)	5						ATCTTCTTCGCGCAACAAGAA	0.428		NA											15	48					0	0	0	0
TRIM71	131405	broad.mit.edu	37	3	32932010	32932010	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:32932010G>T	uc003cff.2	+	4	1377	c.1314G>T	c.(1312-1314)CTG>CTT	p.L438L		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	438					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						ACCGGATGCTGGCCCAGGTGC	0.617		NA											47	22					3.77e-16	6.71e-16	1	0
SCN10A	6336	broad.mit.edu	37	3	38793848	38793848	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:38793848C>G	uc003ciq.2	-	11	1617	c.1617G>C	c.(1615-1617)CTG>CTC	p.L539L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	539					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCCCCACCCAGCAGCAGAG	0.607		NA											24	20					0	0	0	0
TGM4	7047	broad.mit.edu	37	3	44952882	44952882	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:44952882C>A	uc003coc.3	+	13	1970	c.1897C>A	c.(1897-1899)CAG>AAG	p.Q633K		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	633					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCTCACTACAGACCTCTGA	0.363		NA											29	69					1.81e-10	2.99e-10	1	0
GLYCTK	132158	broad.mit.edu	37	3	52325847	52325847	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:52325847G>T	uc003ddo.2	+	4	710	c.614G>T	c.(613-615)CGT>CTT	p.R205L	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R205L|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	205					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGGCAGCCCGTGGAGCCACC	0.622		NA									OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	41					2.42e-17	4.35e-17	1	0
ZPLD1	131368	broad.mit.edu	37	3	102196426	102196426	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:102196426A>G	uc003dvs.1	+	18	2094	c.1212A>G	c.(1210-1212)TTA>TTG	p.L404L	ZPLD1_uc003dvt.1_Silent_p.L420L|ZPLD1_uc011bhg.1_Silent_p.L404L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	404	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						CCACAAGTTTAGTGTTGAATG	0.473		NA											38	112					0	0	0	0
PVRL3	25945	broad.mit.edu	37	3	110837676	110837676	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837676A>G	uc003dxt.1	+	3	676	c.676A>G	c.(676-678)ACG>GCG	p.T226A	PVRL3_uc003dxu.1_Missense_Mutation_p.T203A	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	226	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TGAAACGGCAACGATTATCAG	0.433		NA											10	58					0	0	0	0
PVRL3	25945	broad.mit.edu	37	3	110837725	110837725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837725G>T	uc003dxt.1	+	3	725	c.725G>T	c.(724-726)AGG>ATG	p.R242M	PVRL3_uc003dxu.1_Missense_Mutation_p.R219M	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	242	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						GCTAGAGGAAGGCGAATTACT	0.373		NA											14	59					7.93e-07	1.21e-06	1	0
KIAA1407	57577	broad.mit.edu	37	3	113724674	113724674	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:113724674T>G	uc003eax.2	-	10	1696	c.1549A>C	c.(1549-1551)AAT>CAT	p.N517H	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.N495H|KIAA1407_uc011bip.1_Missense_Mutation_p.N504H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	517										ovary(2)	2						TGCTGCTTATTGCCAGGTGCA	0.542		NA											46	217					0	0	0	0
LSAMP	4045	broad.mit.edu	37	3	115560725	115560725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:115560725G>C	uc003ebt.2	-	6	1386	c.886C>G	c.(886-888)CTG>GTG	p.L296V	LSAMP_uc011bis.1_Missense_Mutation_p.L296V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTGACCCCCAGCTTGTTGGCA	0.502		NA											12	91					0	0	0	0
C3orf1	51300	broad.mit.edu	37	3	119236160	119236160	+	Silent	SNP	G	G	A	rs150396264	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:119236160G>A	uc003ecn.2	+	6	918	c.705G>A	c.(703-705)GAG>GAA	p.E235E	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	235						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		AACTGGAAGAGTGGTAAGGAA	0.458		NA											90	73					0	0	0	0
MYLK	4638	broad.mit.edu	37	3	123471326	123471326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:123471326G>T	uc003ego.2	-	5	507	c.225C>A	c.(223-225)AGC>AGA	p.S75R	MYLK_uc011bjw.1_Missense_Mutation_p.S75R|MYLK_uc003egp.2_Missense_Mutation_p.S75R|MYLK_uc003egq.2_Missense_Mutation_p.S75R|MYLK_uc003egr.2_Missense_Mutation_p.S75R|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.S75R|MYLK_uc003egu.1_Missense_Mutation_p.S85R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	75	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGGCCCCCGCTGGTGATGG	0.517		NA											24	28					5.45e-15	9.65e-15	1	0
RAB7A	7879	broad.mit.edu	37	3	128514247	128514247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:128514247A>T	uc003eks.1	+	2	269	c.37A>T	c.(37-39)ATC>TTC	p.I13F	RAB7A_uc010hsv.1_Missense_Mutation_p.I13F|RAB7A_uc003ekt.2_5'Flank	NM_004637	NP_004628	P51149	RAB7A_HUMAN	RAB7, member RAS oncogene family	13					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.231)		GAAGGTTATCATCCTGGGAGA	0.458		NA									OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	48					0	0	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803000	137803000	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:137803000G>A	uc003erq.2	-	8	1521	c.1158C>T	c.(1156-1158)GCC>GCT	p.A386A	DZIP1L_uc003err.1_Silent_p.A386A	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	386	Potential.					intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CCTGCAGCTGGGCACGGAGGG	0.607		NA											25	132					0	0	0	0
VEPH1	79674	broad.mit.edu	37	3	157082158	157082158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157082158C>A	uc003fbj.1	-	8	1588	c.1271G>T	c.(1270-1272)GGC>GTC	p.G424V	VEPH1_uc003fbk.1_Missense_Mutation_p.G424V|VEPH1_uc010hvu.1_Missense_Mutation_p.G424V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	424						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGATAGAGCCAGGGGTATT	0.348		NA											22	106					7.45e-12	1.26e-11	1	0
SHOX2	6474	broad.mit.edu	37	3	157823782	157823782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157823782G>T	uc003fbr.2	-	1	171	c.32C>A	c.(31-33)TCT>TAT	p.S11Y	SHOX2_uc003fbs.2_Missense_Mutation_p.S11Y|SHOX2_uc010hvw.2_Missense_Mutation_p.S11Y	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	11					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGTCAAAAGACTTGGAGAC	0.617		NA											15	62					1.36e-06	2.06e-06	1	0
WDR49	151790	broad.mit.edu	37	3	167196746	167196746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167196746T>G	uc003fev.1	-	15	2320	c.2014A>C	c.(2014-2016)AAG>CAG	p.K672Q	WDR49_uc003feu.1_Missense_Mutation_p.K497Q|WDR49_uc011bpd.1_Missense_Mutation_p.K637Q|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	672										large_intestine(1)|ovary(1)|skin(1)	3						AGAATTTCCTTGGGAAACAGG	0.308		NA											22	46					0	0	0	0
WDR49	151790	broad.mit.edu	37	3	167250747	167250747	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167250747A>T	uc003fev.1	-	8	1223	c.917T>A	c.(916-918)ATT>AAT	p.I306N	WDR49_uc003feu.1_Missense_Mutation_p.I131N|WDR49_uc011bpd.1_Missense_Mutation_p.I370N|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	306	WD 5.									large_intestine(1)|ovary(1)|skin(1)	3						CCATAGAACAATTTCTCCATC	0.373		NA											12	54					0	0	0	0
LRRC34	151827	broad.mit.edu	37	3	169514002	169514002	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:169514002G>C	uc003ffx.2	-	8	944	c.929C>G	c.(928-930)GCG>GGG	p.A310G	LRRC34_uc003ffy.2_Missense_Mutation_p.A342G|LRRC34_uc011bpn.1_Missense_Mutation_p.A342G|LRRC34_uc003ffz.2_Missense_Mutation_p.A294G|LRRC34_uc003fga.3_Missense_Mutation_p.A294G	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	310											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCATACTAACGCTTTAAGACT	0.303		NA											46	50					0	0	0	0
TNIK	23043	broad.mit.edu	37	3	170789099	170789099	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:170789099C>T	uc003fhh.2	-	29	3807	c.3462G>A	c.(3460-3462)AGG>AGA	p.R1154R	TNIK_uc003fhi.2_Silent_p.R1099R|TNIK_uc003fhj.2_Silent_p.R1125R|TNIK_uc003fhk.2_Silent_p.R1146R|TNIK_uc003fhl.2_Silent_p.R1070R|TNIK_uc003fhm.2_Silent_p.R1091R|TNIK_uc003fhn.2_Silent_p.R1117R|TNIK_uc003fho.2_Silent_p.R1062R|TNIK_uc003fhg.2_Silent_p.R332R|TNIK_uc003fhp.2_Silent_p.R86R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1154	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAAATTTGATCCTTTCATATT	0.294		NA											11	17					0	0	0	0
SPATA16	83893	broad.mit.edu	37	3	172835472	172835472	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:172835472T>C	uc003fin.3	-	2	208	c.50A>G	c.(49-51)TAT>TGT	p.Y17C		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	17					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGATCATGATAGATCCTATT	0.433		NA											104	160					0	0	0	0
MFN1	55669	broad.mit.edu	37	3	179107824	179107824	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:179107824A>T	uc003fjs.2	+	17	2171	c.2045A>T	c.(2044-2046)CAA>CTA	p.Q682L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.Q710L|MFN1_uc010hxc.2_Missense_Mutation_p.Q424L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	682	Cytoplasmic (Potential).|Potential.				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCCTGTGCCAACAAGTTGAT	0.308		NA											15	80					0	0	0	0
EIF2B5	8893	broad.mit.edu	37	3	183855540	183855540	+	Silent	SNP	G	G	A	rs113994052		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:183855540G>A	uc003fmp.2	+	3	817	c.453G>A	c.(451-453)GTG>GTA	p.V151V	EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	151					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTTCTGGTGTATGGGGATG	0.473		NA											53	95					0	0	0	0
UTS2D	257313	broad.mit.edu	37	3	190995894	190995894	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:190995894T>C	uc003fsu.2	-	6	956	c.169A>G	c.(169-171)AAA>GAA	p.K57E		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	urotensin 2 domain containing precursor	57						extracellular region	hormone activity				0	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		TCAAAATTTTTATTCAGTAGA	0.279		NA											17	15					0	0	0	0
TFRC	7037	broad.mit.edu	37	3	195782076	195782076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:195782076C>T	uc003fvz.3	-	17	2057	c.1774G>A	c.(1774-1776)GAG>AAG	p.E592K	TFRC_uc003fwa.3_Missense_Mutation_p.E592K|TFRC_uc010hzy.2_Missense_Mutation_p.E511K|TFRC_uc011btr.1_Missense_Mutation_p.E310K	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	592	Extracellular (Potential).|Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAGCGACCTCTGCAGCTGCT	0.458		NA	T	BCL6	NHL								45	200					0	0	0	0
UBXN7	26043	broad.mit.edu	37	3	196096339	196096339	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196096339T>C	uc003fwm.3	-	7	734	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	UBXN7_uc003fwn.3_Missense_Mutation_p.Y72C|UBXN7_uc010iae.2_Missense_Mutation_p.Y58C	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	220							protein binding			ovary(2)|pancreas(1)	3						CCCTAACTTATAAAACTGTAT	0.353		NA											15	65					0	0	0	0
LRRC33	375387	broad.mit.edu	37	3	196388450	196388450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196388450C>A	uc003fwv.2	+	3	2040	c.1936C>A	c.(1936-1938)CTG>ATG	p.L646M		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	646	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GTGGGAGCGGCTGGACCTGGG	0.637		NA											53	167					4.26e-23	7.88e-23	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445495	10445495	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:10445495C>A	uc003gmn.2	-	3	2945	c.2458G>T	c.(2458-2460)GAC>TAC	p.D820Y		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						AAGTCTGAGTCCGCCTGTCTC	0.468		NA											21	58					2.22e-12	3.77e-12	1	0
LDB2	9079	broad.mit.edu	37	4	16513685	16513685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:16513685G>A	uc003goz.2	-	6	974	c.658C>T	c.(658-660)CAT>TAT	p.H220Y	LDB2_uc003gpa.2_Missense_Mutation_p.H220Y|LDB2_uc003gpb.2_Missense_Mutation_p.H220Y|LDB2_uc011bxh.1_Missense_Mutation_p.H192Y|LDB2_uc010iee.2_Missense_Mutation_p.H220Y|LDB2_uc003goy.2_Missense_Mutation_p.H96Y|LDB2_uc011bxi.1_Missense_Mutation_p.H96Y	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	220							LIM domain binding|transcription cofactor activity				0						TAAGTTTTATGTCTCGACATC	0.443		NA											16	24					0	0	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973976	69973976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:69973976G>A	uc003heg.3	+	5	1292	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TGTTAGAGTGGACTTCAACAC	0.433		NA											38	163					0	0	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346550	70346550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:70346550C>A	uc003hek.3	-	6	1436	c.1389G>T	c.(1387-1389)TGG>TGT	p.W463C	UGT2B4_uc011cap.1_Missense_Mutation_p.W327C|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	463					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						CAAATTCAATCCAGAAGACTG	0.448		NA											74	131					6.72e-28	1.26e-27	1	0
RCHY1	25898	broad.mit.edu	37	4	76415818	76415818	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:76415818T>C	uc003hik.2	-	8	762	c.630A>G	c.(628-630)CCA>CCG	p.P210P	RCHY1_uc010iio.2_Silent_p.P106P|RCHY1_uc003hij.2_3'UTR|RCHY1_uc003hil.2_Silent_p.P201P|RCHY1_uc010iip.2_3'UTR|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Silent_p.P170P	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATATTCTGATGGCATAGGAG	0.408		NA											7	62					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85654614	85654614	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85654614C>G	uc003hpd.2	-	44	7550	c.7142G>C	c.(7141-7143)AGG>ACG	p.R2381T	WDFY3_uc003hpe.1_Missense_Mutation_p.R9T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2381						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTTTTTCCTCATCCTGCA	0.527		NA											51	260					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85657475	85657475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85657475C>A	uc003hpd.2	-	42	7171	c.6763G>T	c.(6763-6765)GAA>TAA	p.E2255*	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTTCTTTTCATGGGCTATT	0.353		NA											14	25					9.31e-06	1.38e-05	1	0
PTPN13	5783	broad.mit.edu	37	4	87728986	87728986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:87728986C>G	uc003hpz.2	+	45	7499	c.7019C>G	c.(7018-7020)GCT>GGT	p.A2340G	PTPN13_uc003hpy.2_Missense_Mutation_p.A2345G|PTPN13_uc003hqa.2_Missense_Mutation_p.A2321G|PTPN13_uc003hqb.2_Missense_Mutation_p.A2149G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2340	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCGACTGGCTCTTGTGAGA	0.448		NA											24	90					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96222797	96222797	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96222797C>A	uc003htp.1	-	3	604	c.450G>T	c.(448-450)GCG>GCT	p.A150A	UNC5C_uc010ilc.1_Silent_p.A150A|UNC5C_uc003htq.2_Silent_p.A150A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	150	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTGGTACCCGCGGAGCTCC	0.502		NA											26	24					0.000586117	0.000820836	1	0
UNC5C	8633	broad.mit.edu	37	4	96469982	96469982	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96469982C>T	uc003htp.1	-	1	181	c.27G>A	c.(25-27)GCG>GCA	p.A9A	UNC5C_uc010ilc.1_Silent_p.A9A|UNC5C_uc003htq.2_Silent_p.A9A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	9					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGCGGGCCGCTGTCGCCC	0.667		NA											60	49					0	0	0	0
ANK2	287	broad.mit.edu	37	4	114278239	114278239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:114278239C>T	uc003ibe.3	+	38	8565	c.8465C>T	c.(8464-8466)ACA>ATA	p.T2822I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.T124I|ANK2_uc011cgb.1_Missense_Mutation_p.T2837I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2789					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAAGACACAGAGGGAGAA	0.438		NA											62	51					0	0	0	0
NDST3	9348	broad.mit.edu	37	4	118975167	118975167	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975167C>T	uc003ibx.2	+	2	505	c.102C>T	c.(100-102)TAC>TAT	p.Y34Y	NDST3_uc011cgf.1_Silent_p.Y34Y|NDST3_uc003ibw.2_Silent_p.Y34Y	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	34	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						ACTACCTGTACAGTGGCTACA	0.413		NA											23	94					0	0	0	0
NDST3	9348	broad.mit.edu	37	4	118975575	118975575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975575G>T	uc003ibx.2	+	2	913	c.510G>T	c.(508-510)AAG>AAT	p.K170N	NDST3_uc011cgf.1_Missense_Mutation_p.K170N|NDST3_uc003ibw.2_Missense_Mutation_p.K170N	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	170	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CTAGTGAGAAGAGTGTACAGA	0.348		NA											23	36					1.11e-09	1.81e-09	1	0
HSPA4L	22824	broad.mit.edu	37	4	128726265	128726265	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:128726265A>T	uc003ifm.2	+	9	1276	c.1023A>T	c.(1021-1023)GTA>GTT	p.V341V	HSPA4L_uc010iny.1_Silent_p.V300V|HSPA4L_uc011cgr.1_Silent_p.V308V	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	341					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGAAATTGTAGGAGGAGCAA	0.328		NA											20	15					0	0	0	0
RNF150	57484	broad.mit.edu	37	4	141847144	141847144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:141847144G>T	uc003iio.1	-	5	1628	c.974C>A	c.(973-975)GCC>GAC	p.A325D	RNF150_uc010iok.1_Missense_Mutation_p.A283D|RNF150_uc003iip.1_Missense_Mutation_p.A325D	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	325	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					GATCCCTAGGGCTTTAAGAAT	0.468		NA											10	99					2.81e-09	4.56e-09	1	0
DCLK2	166614	broad.mit.edu	37	4	151142904	151142904	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:151142904G>T	uc003ilm.3	+	7	1308	c.1208G>T	c.(1207-1209)GGC>GTC	p.G403V	DCLK2_uc003iln.3_Missense_Mutation_p.G402V|DCLK2_uc003ilo.3_Missense_Mutation_p.G420V|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	403	ATP (By similarity).|Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ATTGGTGATGGCAATTTTGCA	0.338		NA											7	29					0.000157383	0.000223702	1	0
TMEM154	201799	broad.mit.edu	37	4	153565566	153565566	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:153565566C>T	uc003imw.1	-	4	498	c.392_splice	c.e4+1	p.V131_splice		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor							integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAAAACTTACACTTTCACGT	0.413		NA											9	23					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155219268	155219268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155219268G>T	uc003inw.2	-	18	4833	c.4833C>A	c.(4831-4833)GAC>GAA	p.D1611E		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1611	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCCCCAAGTCCAGGTCAT	0.418		NA											36	30					1.08e-12	1.84e-12	1	0
DCHS2	54798	broad.mit.edu	37	4	155226261	155226261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155226261A>G	uc003inw.2	-	16	4018	c.4018T>C	c.(4018-4020)TTC>CTC	p.F1340L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1340	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGAAGGGTGAAGACTTCTTGA	0.323		NA											18	18					0	0	0	0
CLCN3	1182	broad.mit.edu	37	4	170608837	170608837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:170608837G>T	uc003isi.2	+	4	856	c.347G>T	c.(346-348)TGG>TTG	p.W116L	CLCN3_uc003ish.2_Missense_Mutation_p.W116L|CLCN3_uc011cjz.1_Missense_Mutation_p.W99L|CLCN3_uc011cka.1_Missense_Mutation_p.W116L|CLCN3_uc003isj.1_Missense_Mutation_p.W89L	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	116	Cytoplasmic (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAATCAGCATGGGAAATGACA	0.343		NA											12	9					0.000308642	0.000433586	1	0
GALNTL6	442117	broad.mit.edu	37	4	173873273	173873273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:173873273C>G	uc003isv.2	+	10	1971	c.1235C>G	c.(1234-1236)ACG>AGG	p.T412R		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	412	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CATCTCTCCACGGGGGACATC	0.557		NA											14	65					0	0	0	0
VEGFC	7424	broad.mit.edu	37	4	177605117	177605117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177605117C>G	uc003ius.1	-	7	1653	c.1223G>C	c.(1222-1224)TGT>TCT	p.C408S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	408					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGAAGGGACACAACGACACAC	0.418		NA											43	38					0	0	0	0
VEGFC	7424	broad.mit.edu	37	4	177649124	177649124	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177649124T>A	uc003ius.1	-	3	792	c.362_splice	c.e3-1	p.S121_splice		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TATCAATACCTGTCAAGTCAT	0.413		NA											18	45					0	0	0	0
ZFP42	132625	broad.mit.edu	37	4	188924027	188924027	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:188924027C>A	uc003izg.1	+	3	311	c.66C>A	c.(64-66)CCC>CCA	p.P22P	ZFP42_uc003izh.1_Silent_p.P22P|ZFP42_uc003izi.1_Silent_p.P22P	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	22					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGAGCCCCCAGTGGGGCTA	0.552		NA											16	88					3.53e-06	5.28e-06	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244767	1244767	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:1244767C>A	uc003jby.1	+	11	1664	c.1541C>A	c.(1540-1542)CCC>CAC	p.P514H		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	514	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCCAGCCCCTACTGGCGG	0.602		NA											17	127					7.08e-05	0.000101615	1	0
C5orf38	153571	broad.mit.edu	37	5	2752749	2752749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:2752749A>T	uc003jdc.2	+	2	331	c.214A>T	c.(214-216)AAA>TAA	p.K72*	C5orf38_uc011cmg.1_Nonsense_Mutation_p.K72*|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	72						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		TGTGTTGTCAAAACACTGGGG	0.507		NA											42	169					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11159792	11159793	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159792_11159793CG>TT	uc003jfa.1	-	12	2199_2200	c.2054_2055CG>AA	c.(2053-2055)GCG>GAA	p.A685E	CTNND2_uc010itt.2_Missense_Mutation_p.A594E|CTNND2_uc011cmy.1_Missense_Mutation_p.A348E|CTNND2_uc011cmz.1_Missense_Mutation_p.A252E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A252E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A685V(1)		large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGATAATCACCGCGTTGGTCAG	0.52		NA											21	169					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11236908	11236908	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11236908C>A	uc003jfa.1	-	10	1801	c.1656G>T	c.(1654-1656)CTG>CTT	p.L552L	CTNND2_uc010itt.2_Silent_p.L461L|CTNND2_uc011cmy.1_Silent_p.L215L|CTNND2_uc011cmz.1_Silent_p.L119L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L119L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	552	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TCACTTCCGGCAGTTCCGGGT	0.473		NA											42	123					2.66e-13	4.59e-13	1	0
DNAH5	1767	broad.mit.edu	37	5	13807803	13807803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13807803G>T	uc003jfd.2	-	47	7826	c.7784C>A	c.(7783-7785)GCC>GAC	p.A2595D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2595	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TACTGTTTTGGCTGTTCCTTG	0.289		NA							Kartagener_syndrome				7	18					5.18e-06	7.72e-06	1	0
DNAH5	1767	broad.mit.edu	37	5	13839501	13839501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13839501C>A	uc003jfd.2	-	35	5888	c.5846G>T	c.(5845-5847)TGC>TTC	p.C1949F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1949	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCTGTCAGTGCAGCCTAAAAA	0.423		NA							Kartagener_syndrome				27	140					7.26e-15	1.28e-14	1	0
FBXL7	23194	broad.mit.edu	37	5	15937116	15937116	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:15937116C>A	uc003jfn.1	+	4	1778	c.1297C>A	c.(1297-1299)CTC>ATC	p.L433I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	433	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCTCAAGCGGCTCAGCCTCAA	0.587		NA											5	81					3.6e-05	5.22e-05	1	0
PRDM9	56979	broad.mit.edu	37	5	23522987	23522987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:23522987C>A	uc003jgo.2	+	8	1057	c.875C>A	c.(874-876)TCC>TAC	p.S292Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	292	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AATGGATACTCCTGGCTGGTA	0.502		NA								HNSCC(3;0.000094)			17	141					0.000132079	0.000188476	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33684161	33684161	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:33684161C>A	uc003jia.1	-	4	798	c.635_splice	c.e4-1	p.D212_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.D212_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTAACACTGTCTAAACAGTAA	0.413		NA								HNSCC(64;0.19)			7	37					2.74e-10	4.53e-10	1	0
SPEF2	79925	broad.mit.edu	37	5	35641597	35641597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:35641597C>T	uc003jjo.2	+	3	337	c.226C>T	c.(226-228)CAG>TAG	p.Q76*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.Q76*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.Q76*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	76	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGGTGTGCAGTTTGATCA	0.388		NA											10	94					0	0	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253851	36253851	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:36253851G>T	uc003jkh.2	-	12	1558	c.1065C>A	c.(1063-1065)AGC>AGA	p.S355R	RANBP3L_uc011cow.1_Missense_Mutation_p.S380R	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	355	RanBD1.				intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCCAGAGTTTGCTGTTGAGGA	0.388		NA											14	120					8.6e-14	1.5e-13	1	0
MRPS30	10884	broad.mit.edu	37	5	44809461	44809461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44809461C>T	uc003joh.2	+	1	435	c.397C>T	c.(397-399)CCT>TCT	p.P133S	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	133					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					cgaacccgaacctgaaccTGC	0.572		NA											4	24					0	0	0	0
MRPS30	10884	broad.mit.edu	37	5	44815101	44815101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44815101C>T	uc003joh.2	+	5	1155	c.1117C>T	c.(1117-1119)CAG>TAG	p.Q373*		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	373					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					TTTCTGCTACCAGCTAAATAC	0.388		NA											27	153					0	0	0	0
MAP3K1	4214	broad.mit.edu	37	5	56168720	56168720	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:56168720A>T	uc003jqw.3	+	9	2075	c.1574A>T	c.(1573-1575)CAG>CTG	p.Q525L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	525					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			ovary(1)|skin(1)	2		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)		ACCGTACAGCAGCAGCCTTTG	0.433		NA											20	17					0	0	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349325	65349325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:65349325G>C	uc003juk.1	+	21	2487	c.2179G>C	c.(2179-2181)GAT>CAT	p.D727H	ERBB2IP_uc003jui.1_Missense_Mutation_p.D727H|ERBB2IP_uc003juj.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.D723H|ERBB2IP_uc003jul.1_Missense_Mutation_p.D723H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	727					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATAAAAAAGATTTTAACTT	0.308		NA											22	67					0	0	0	0
BDP1	55814	broad.mit.edu	37	5	70835391	70835391	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:70835391T>C	uc003kbp.1	+	28	6200	c.5937T>C	c.(5935-5937)AAT>AAC	p.N1979N	BDP1_uc003kbo.2_Silent_p.N1979N|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_Intron	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1979					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTACCAATGATGGAAGCA	0.348		NA											10	23					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90015959	90015959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:90015959G>C	uc003kju.2	+	44	9638	c.9542G>C	c.(9541-9543)GGG>GCG	p.G3181A	GPR98_uc003kjt.2_Missense_Mutation_p.G887A|GPR98_uc003kjv.2_Missense_Mutation_p.G781A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3181	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTAGACTAGGGGTGCATGTT	0.413		NA											19	51					0	0	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709176	101709176	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:101709176A>T	uc003knn.2	-	13	2212	c.2040T>A	c.(2038-2040)ACT>ACA	p.T680T	SLCO6A1_uc003kno.2_Silent_p.T427T|SLCO6A1_uc003knp.2_Silent_p.T680T|SLCO6A1_uc003knq.2_Silent_p.T618T	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	680	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAAGATGATAGTGCATAGTT	0.303		NA											10	42					0	0	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493935	102493935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:102493935G>T	uc003kod.3	+	15	2052	c.1533G>T	c.(1531-1533)TGG>TGT	p.W511C	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.W511C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	511					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TTCTAAAATGGGGAGGTGAAT	0.388		NA											8	11					5.18e-06	7.72e-06	1	0
MEGF10	84466	broad.mit.edu	37	5	126738373	126738373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:126738373C>T	uc003kuh.3	+	9	1278	c.916C>T	c.(916-918)CGG>TGG	p.R306W	MEGF10_uc010jdc.1_Missense_Mutation_p.R306W|MEGF10_uc010jdd.1_Missense_Mutation_p.R306W|MEGF10_uc003kui.3_Missense_Mutation_p.R306W	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	306	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 5.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CACAGGGGAACGGTAAGGGAT	0.478		NA											33	26					0	0	0	0
SEC24A	10802	broad.mit.edu	37	5	134029560	134029560	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:134029560C>A	uc003kzs.2	+	13	2211	c.1923C>A	c.(1921-1923)CTC>CTA	p.L641L	SEC24A_uc011cxu.1_Silent_p.L405L	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	641					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACACAACTCCCAACTCTTG	0.498		NA											15	37					1.68e-08	2.68e-08	1	0
IK	3550	broad.mit.edu	37	5	140033549	140033549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140033549G>A	uc003lgq.2	+	6	541	c.431G>A	c.(430-432)AGA>AAA	p.R144K	IK_uc011czk.1_Missense_Mutation_p.R144K	NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	144					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAGAAGACAGTTGATC	0.368		NA											14	9					0	0	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180929	140180929	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140180929G>T	uc003lhf.2	+	1	147	c.147G>T	c.(145-147)GCG>GCT	p.A49A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A49A	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	49	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.647		NA											35	86					2.42e-17	4.35e-17	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475671	140475671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140475671C>A	uc003lil.2	+	1	1435	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	PCDHB2_uc003lim.1_Missense_Mutation_p.L94M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	433	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.557		NA											79	51					3e-28	5.66e-28	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558615	140558615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140558615G>A	uc011dai.1	+	1	1186	c.1000G>A	c.(1000-1002)GTT>ATT	p.V334I	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	334	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCACCGTTCTGATTCA	0.433		NA											38	352					0	0	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140589218T>G	uc003liz.2	+	1	928	c.739T>G	c.(739-741)TAT>GAT	p.Y247D	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	247	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTTTATGAGGTGAA	0.502		NA											97	56					0	0	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590088	140590088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140590088G>T	uc003liz.2	+	1	1798	c.1609G>T	c.(1609-1611)GGC>TGC	p.G537C	PCDHB12_uc011dak.1_Missense_Mutation_p.G200C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	537	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCACGGCTCCCCGGC	0.677		NA											49	29					5.34e-22	9.84e-22	1	0
HMHB1	57824	broad.mit.edu	37	5	143200051	143200051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:143200051T>C	uc003lnj.2	+	2	151	c.44T>C	c.(43-45)CTG>CCG	p.L15P		NM_021182	NP_067005	O97980	HMHB1_HUMAN	minor histocompatibility antigen HB-1	15	Loss of recognition by cytotoxic T lymphocyte (CTL).			L->A: Complete loss of CTL recognition.							0		Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATAGGTTCTCTGCATGTTTGG	0.393		NA											34	73					0	0	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145477757	145477757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:145477757C>A	uc003lnv.2	-	2	290	c.218G>T	c.(217-219)AGC>ATC	p.S73I	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	73											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACCGGTGCTCCAGCCCCC	0.512		NA											26	13					2.8e-10	4.62e-10	1	0
SLC36A2	153201	broad.mit.edu	37	5	150722462	150722462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:150722462C>T	uc003lty.2	-	4	557	c.427G>A	c.(427-429)GCT>ACT	p.A143T	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.A143T|SLC36A2_uc011dct.1_Missense_Mutation_p.A143T	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	143	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTGAGCGTGATTCTGG	0.537		NA											23	26					0	0	0	0
ITK	3702	broad.mit.edu	37	5	156671418	156671418	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:156671418T>A	uc003lwo.1	+	13	1461	c.1379T>A	c.(1378-1380)CTG>CAG	p.L460Q		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGACCCTGCTGGGCATGTGT	0.572		NA	T	SYK	peripheral T-cell lymphoma								17	25					0	0	0	0
FABP6	2172	broad.mit.edu	37	5	159659189	159659189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:159659189C>A	uc003lya.1	+	2	280	c.152C>A	c.(151-153)TCC>TAC	p.S51Y	FABP6_uc003lxx.1_Missense_Mutation_p.S100Y|FABP6_uc003lxz.1_Missense_Mutation_p.S100Y	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	51					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCACTTGGTCCCAGCACTAC	0.562		NA											9	8					0.000442599	0.000620325	1	0
GABRA1	2554	broad.mit.edu	37	5	161302615	161302615	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161302615G>T	uc010jiw.2	+	7	994	c.526G>T	c.(526-528)GAT>TAT	p.D176Y	GABRA1_uc010jix.2_Missense_Mutation_p.D176Y|GABRA1_uc010jiy.2_Missense_Mutation_p.D176Y|GABRA1_uc003lyx.3_Missense_Mutation_p.D176Y|GABRA1_uc010jiz.2_Missense_Mutation_p.D176Y|GABRA1_uc010jja.2_Missense_Mutation_p.D176Y|GABRA1_uc010jjb.2_Missense_Mutation_p.D176Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	176	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTTCCCTATGGATGCCCATGC	0.383		NA											17	52					2.35e-11	3.94e-11	1	0
GABRP	2568	broad.mit.edu	37	5	170239158	170239158	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:170239158A>G	uc003mau.2	+	10	1417	c.1219A>G	c.(1219-1221)ACA>GCA	p.T407A	GABRP_uc011dev.1_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	407	Cytoplasmic (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGATTATTTCACAATTCAAAA	0.373		NA											13	33					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176675284	176675284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:176675284G>T	uc003mfr.3	+	11	4738	c.4600G>T	c.(4600-4602)GAA>TAA	p.E1534*	NSD1_uc003mft.3_Nonsense_Mutation_p.E1265*|NSD1_uc003mfs.1_Nonsense_Mutation_p.E1431*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E1182*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1534					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATGCAGGGTGAACGCGGTGG	0.498		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			15	5					3.27e-08	5.2e-08	1	0
MAML1	9794	broad.mit.edu	37	5	179192840	179192840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:179192840G>T	uc003mkm.2	+	2	1092	c.829G>T	c.(829-831)GAG>TAG	p.E277*	MAML1_uc003mkn.1_Nonsense_Mutation_p.E277*	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	277					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTCGAGGAGAAGAAGGA	0.512		NA											26	69					7.68e-24	1.43e-23	1	0
DSP	1832	broad.mit.edu	37	6	7583613	7583613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:7583613A>G	uc003mxp.1	+	24	6397	c.6118A>G	c.(6118-6120)ATC>GTC	p.I2040V	DSP_uc003mxq.1_Missense_Mutation_p.I1441V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2040	Plectin 1.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAATTAATCAGCCCAGA	0.488		NA											40	41					0	0	0	0
SCGN	10590	broad.mit.edu	37	6	25670229	25670229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:25670229C>A	uc003nfb.2	+	6	599	c.396C>A	c.(394-396)AAC>AAA	p.N132K	SCGN_uc010jpz.2_Missense_Mutation_p.T42N	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	132	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						CGCCACAGAACTTCCTCCGAG	0.378		NA											42	170					1.42e-22	2.61e-22	1	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26273408G>A	uc003nhk.2	+	1	205	c.205G>A	c.(205-207)GAC>AAC	p.D69N	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CTTCGTCAACGACATTTTCGA	0.567		NA											63	189					0	0	0	0
ABT1	29777	broad.mit.edu	37	6	26598238	26598238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26598238G>A	uc003nii.2	+	2	369	c.338G>A	c.(337-339)CGT>CAT	p.R113H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	113	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						GTGGAGTTCCGTGACAAGCGC	0.597		NA											11	44					0	0	0	0
ZNF184	7738	broad.mit.edu	37	6	27419371	27419371	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:27419371T>A	uc003njj.2	-	5	2778	c.1967A>T	c.(1966-1968)CAT>CTT	p.H656L	ZNF184_uc010jqv.2_Missense_Mutation_p.H656L|ZNF184_uc003nji.2_Missense_Mutation_p.H656L	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	656	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGAGTTAGATGGGAGCTCTG	0.423		NA											18	79					0	0	0	0
UBD	10537	broad.mit.edu	37	6	29524075	29524075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:29524075T>C	uc003nmo.2	-	2	304	c.80A>G	c.(79-81)TAT>TGT	p.Y27C	GABBR1_uc003nmp.3_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	ubiquitin D	27	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding				0						CACGCTGTCATATGGGTTGGC	0.488		NA											20	50					0	0	0	0
MSH5	4439	broad.mit.edu	37	6	31726375	31726375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31726375C>A	uc003nwv.1	+	14	1273	c.1194C>A	c.(1192-1194)AAC>AAA	p.N398K	MSH5_uc003nwt.1_Missense_Mutation_p.N415K|MSH5_uc003nwu.1_Missense_Mutation_p.N398K|MSH5_uc003nww.1_Missense_Mutation_p.N398K|MSH5_uc003nwx.1_Missense_Mutation_p.N415K|MSH5_uc011dof.1_Missense_Mutation_p.N97K|MSH5_uc003nwy.1_Missense_Mutation_p.N72K|MSH5_uc003nwz.3_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	398					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						TCCTCCCCAACATAGATCCTG	0.532		NA						Direct_reversal_of_damage|MMR					19	39					8.34e-07	1.27e-06	1	0
EHMT2	10919	broad.mit.edu	37	6	31854582	31854582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31854582C>T	uc003nxz.1	-	17	2221	c.2211G>A	c.(2209-2211)ATG>ATA	p.M737I	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.M528I|EHMT2_uc011don.1_Missense_Mutation_p.M760I|EHMT2_uc003nya.1_Missense_Mutation_p.M703I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	737	ANK 3.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CACGCTGCACCATGTAACGGG	0.622		NA											35	158					0	0	0	0
FANCE	2178	broad.mit.edu	37	6	35425701	35425701	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:35425701G>A	uc003oko.1	+	4	1094	c.909G>A	c.(907-909)GAG>GAA	p.E303E	FANCE_uc010jvw.1_Silent_p.E303E	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	303	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						AGGGGTTAGAGGGATTGGAGG	0.562		NA	N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				42	53					0	0	0	0
KIF6	221458	broad.mit.edu	37	6	39507828	39507828	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39507828C>A	uc003oot.2	-	13	1691	c.1596G>T	c.(1594-1596)CAG>CAT	p.Q532H	KIF6_uc010jwz.1_Translation_Start_Site|KIF6_uc010jxa.1_Missense_Mutation_p.Q323H|KIF6_uc011dua.1_Missense_Mutation_p.Q532H|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	532					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGCTGAAGTCCTGGGCCTGTG	0.458		NA											103	114					3.01e-42	5.77e-42	1	0
DAAM2	23500	broad.mit.edu	37	6	39841095	39841095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39841095C>G	uc003oow.2	+	10	1282	c.1126C>G	c.(1126-1128)CTG>GTG	p.L376V	DAAM2_uc010jxc.2_Missense_Mutation_p.L376V|DAAM2_uc003oox.2_Missense_Mutation_p.L376V	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	376	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTACCCCTGCCTGCTCTCTGT	0.562		NA											3	19					0	0	0	0
TREML2	79865	broad.mit.edu	37	6	41165984	41165984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:41165984T>C	uc010jxm.1	-	2	418	c.239A>G	c.(238-240)CAG>CGG	p.Q80R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	80	Ig-like V-type.|Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCATCGTCCTGCAGCAAGTA	0.582		NA											22	108					0	0	0	0
CUL7	9820	broad.mit.edu	37	6	43013126	43013126	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:43013126C>G	uc003otq.2	-	15	3180	c.2877G>C	c.(2875-2877)ACG>ACC	p.T959T	CUL7_uc010jyg.2_Silent_p.T238T|CUL7_uc011dvb.1_Silent_p.T1043T|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	959	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCGAATGCGCGTATCAATGC	0.597		NA											38	105					0	0	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803949	50803949	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:50803949C>G	uc003pag.2	+	4	943	c.777C>G	c.(775-777)CCC>CCG	p.P259P		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	259					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GGCTGTCGCCCCCTGAATGCC	0.468		NA											25	26					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51890545	51890545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:51890545G>A	uc003pah.1	-	32	4339	c.4063C>T	c.(4063-4065)CCT>TCT	p.P1355S	PKHD1_uc003pai.2_Missense_Mutation_p.P1355S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1355	IPT/TIG 8; atypical.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTGTGAAGAGGGATGGAGCAT	0.502		NA											15	51					0	0	0	0
COL12A1	1303	broad.mit.edu	37	6	75843070	75843070	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:75843070C>A	uc003phs.2	-	34	5899	c.5733G>T	c.(5731-5733)GTG>GTT	p.V1911V	COL12A1_uc003pht.2_Silent_p.V747V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1911	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAACTACAGTCACAGTGTATG	0.378		NA											13	44					2.32e-05	3.38e-05	1	0
IBTK	25998	broad.mit.edu	37	6	82911176	82911176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:82911176C>G	uc003pjl.1	-	19	3280	c.2753G>C	c.(2752-2754)GGT>GCT	p.G918A	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.G918A|IBTK_uc011dyw.1_Missense_Mutation_p.G717A|IBTK_uc010kbi.1_Missense_Mutation_p.G612A|IBTK_uc003pjm.2_Missense_Mutation_p.G918A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAACACCATCGCTTAA	0.318		NA											11	13					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850121	83850121	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:83850121A>G	uc003pjs.1	+	23	5674	c.5414A>G	c.(5413-5415)AAG>AGG	p.K1805R	DOPEY1_uc011dyy.1_Missense_Mutation_p.K1796R|DOPEY1_uc010kbl.1_Missense_Mutation_p.K1796R|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1805					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGCTACAAAGGTTAGACAA	0.378		NA											15	41					0	0	0	0
GABRR2	2570	broad.mit.edu	37	6	89975369	89975369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:89975369C>A	uc003pnb.2	-	7	935	c.927G>T	c.(925-927)TGG>TGT	p.W309C	GABRR2_uc011dzx.1_Missense_Mutation_p.W185C	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	309					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGCGGTCGATCCAGAAGGACA	0.453		NA											22	37					4.4e-07	6.75e-07	1	0
FUT9	10690	broad.mit.edu	37	6	96651163	96651163	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:96651163C>A	uc003pop.3	+	3	473	c.132C>A	c.(130-132)GCC>GCA	p.A44A		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	44	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGAATCAGCCAGCTCTGTGC	0.403		NA											32	34					1.63e-12	2.77e-12	1	0
KLHL32	114792	broad.mit.edu	37	6	97562042	97562042	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:97562042C>T	uc010kcm.1	+	7	1483	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	KLHL32_uc003poy.2_Silent_p.S337S|KLHL32_uc011ead.1_Silent_p.S301S|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.S268S|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	337	Kelch 1.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGGAAGGAGCCACCATTGTG	0.562		NA											16	70					0	0	0	0
POPDC3	64208	broad.mit.edu	37	6	105609578	105609578	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105609578C>G	uc003prb.2	-	2	609	c.207G>C	c.(205-207)TGG>TGC	p.W69C	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	69	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACATCTACCCAAGCCCAGA	0.428		NA											33	118					0	0	0	0
PREP	5550	broad.mit.edu	37	6	105821390	105821390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105821390C>A	uc003prc.2	-	5	652	c.449G>T	c.(448-450)TGG>TTG	p.W150L		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	150					proteolysis		serine-type endopeptidase activity	p.W150*(1)		ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATTGTCACCCAGTCTGAGCC	0.473		NA											15	47					0.00244969	0.00336298	1	0
LAMA4	3910	broad.mit.edu	37	6	112457395	112457395	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112457395A>C	uc003pvu.2	-	25	3653	c.3344T>G	c.(3343-3345)TTC>TGC	p.F1115C	LAMA4_uc003pvv.2_Missense_Mutation_p.F1108C|LAMA4_uc003pvt.2_Missense_Mutation_p.F1108C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1115	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACCGCTGAATCCAAAATC	0.378		NA											3	45					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112486448	112486448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112486448C>T	uc003pvu.2	-	13	1891	c.1582G>A	c.(1582-1584)GAA>AAA	p.E528K	LAMA4_uc003pvv.2_Missense_Mutation_p.E521K|LAMA4_uc003pvt.2_Missense_Mutation_p.E521K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	528	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCACCACTTCCATTTGTTCC	0.453		NA											19	64					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117680986	117680986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:117680986G>T	uc003pxp.1	-	23	3833	c.3634C>A	c.(3634-3636)CGC>AGC	p.R1212S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1212	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTAGAGCGATTGTGCAAG	0.393		NA	T	GOPC|ROS1	glioblastoma|NSCLC								29	39					1.89e-17	3.41e-17	1	0
C6orf170	221322	broad.mit.edu	37	6	121562642	121562642	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:121562642T>A	uc003pyo.1	-	19	2282	c.2214A>T	c.(2212-2214)ACA>ACT	p.T738T	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.T257T	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	738					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		CACCTGCTGCTGTTGATGCCA	0.333		NA											8	28					0	0	0	0
TRDN	10345	broad.mit.edu	37	6	123869599	123869599	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:123869599C>G	uc003pzj.1	-	3	413	c.391G>C	c.(391-393)GGA>CGA	p.G131R	TRDN_uc003pzk.1_Missense_Mutation_p.G131R|TRDN_uc003pzl.1_Missense_Mutation_p.G131R|TRDN_uc010ken.2_Missense_Mutation_p.G131R|TRDN_uc010keo.1_Missense_Mutation_p.G131R	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	131	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTGTACCTTTATCAGTA	0.368		NA											3	6					0	0	0	0
EYA4	2070	broad.mit.edu	37	6	133836544	133836544	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:133836544A>T	uc003qec.3	+	17	2045	c.1587A>T	c.(1585-1587)GCA>GCT	p.A529A	EYA4_uc011ecq.1_Silent_p.A475A|EYA4_uc011ecr.1_Silent_p.A481A|EYA4_uc003qed.3_Silent_p.A529A|EYA4_uc003qee.3_Silent_p.A506A|EYA4_uc011ecs.1_Silent_p.A535A|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	529					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAACAAATGCACTTAAGTCTT	0.393		NA											35	121					0	0	0	0
C6orf97	80129	broad.mit.edu	37	6	151917620	151917620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:151917620A>C	uc003qol.2	+	9	1707	c.1618A>C	c.(1618-1620)AAG>CAG	p.K540Q		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	540	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GAACTTGCAGAAGAAGGTGGA	0.562		NA											21	74					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152443676	152443676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152443676G>T	uc010kiw.2	-	146	26891	c.26289C>A	c.(26287-26289)TGC>TGA	p.C8763*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.C3287*|SYNE1_uc003qos.3_Nonsense_Mutation_p.C3287*|SYNE1_uc003qot.3_Nonsense_Mutation_p.C8715*|SYNE1_uc003qou.3_Nonsense_Mutation_p.C8763*|SYNE1_uc003qop.3_Nonsense_Mutation_p.C948*|SYNE1_uc011eez.1_3'UTR|SYNE1_uc003qoq.3_3'UTR|SYNE1_uc003qor.3_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8763	Helical; Anchor for type IV membrane protein; (Potential).|KASH.			Missing: Abolishes the nuclear envelope targeting, induces a cytoplasmic localization.	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTACAAGGCAGGCAAGCC	0.602		NA								HNSCC(10;0.0054)			14	60					9.31e-06	1.38e-05	1	0
SYNE1	23345	broad.mit.edu	37	6	152456317	152456317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152456317G>T	uc010kiw.2	-	142	26312	c.25710C>A	c.(25708-25710)GAC>GAA	p.D8570E	SYNE1_uc010kiv.2_Missense_Mutation_p.D3094E|SYNE1_uc003qos.3_Missense_Mutation_p.D3094E|SYNE1_uc003qot.3_Missense_Mutation_p.D8522E|SYNE1_uc003qou.3_Missense_Mutation_p.D8570E|SYNE1_uc003qop.3_Missense_Mutation_p.D755E|SYNE1_uc011eez.1_Missense_Mutation_p.D772E|SYNE1_uc003qoq.3_Missense_Mutation_p.D772E|SYNE1_uc003qor.3_Missense_Mutation_p.D1493E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8570	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCCTTCTGTCAATGTTCT	0.353		NA								HNSCC(10;0.0054)			16	21					6.32e-08	9.95e-08	1	0
SLC22A1	6580	broad.mit.edu	37	6	160557345	160557345	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:160557345G>A	uc003qtc.2	+	5	1038	c.933G>A	c.(931-933)AAG>AAA	p.K311K	SLC22A1_uc003qtd.2_Silent_p.K311K	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	311	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGAATGGGAAGTTGCCTCCTG	0.498		NA											22	40					0	0	0	0
MAD1L1	8379	broad.mit.edu	37	7	1937910	1937910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1937910C>T	uc003slh.1	-	18	2190	c.1924G>A	c.(1924-1926)GAC>AAC	p.D642N	MAD1L1_uc003sle.1_Missense_Mutation_p.D371N|MAD1L1_uc003slf.1_Missense_Mutation_p.D642N|MAD1L1_uc003slg.1_Missense_Mutation_p.D642N|MAD1L1_uc010ksh.1_Missense_Mutation_p.D642N|MAD1L1_uc003sli.1_Missense_Mutation_p.D550N|MAD1L1_uc010ksi.1_Missense_Mutation_p.D595N|MAD1L1_uc010ksj.2_Missense_Mutation_p.D642N|MAD1L1_uc003sld.1_Missense_Mutation_p.D98N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	642					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTGATGTCGATCTGGTAG	0.612		NA											18	38					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11486919	11486919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11486919G>T	uc003ssf.3	-	12	2990	c.2738C>A	c.(2737-2739)TCC>TAC	p.S913Y		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	913	TSP type-1 9.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAAAACTTGGACCAGCTGGT	0.522		NA								HNSCC(18;0.044)			12	27					7.04e-09	1.13e-08	1	0
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11676130G>T	uc003ssf.3	-	2	901	c.649C>A	c.(649-651)CGG>AGG	p.R217R		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	Extracellular (Potential).|TSP type-1 2.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617		NA								HNSCC(18;0.044)			5	30					1.24e-05	1.82e-05	1	0
CREB5	9586	broad.mit.edu	37	7	28844011	28844011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:28844011C>T	uc003szq.2	+	8	1288	c.898C>T	c.(898-900)CAT>TAT	p.H300Y	CREB5_uc003szo.2_Missense_Mutation_p.H267Y|CREB5_uc003szr.2_Missense_Mutation_p.H293Y|CREB5_uc003szs.2_Missense_Mutation_p.H161Y	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	300					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						cccagcacaccatcctcaccc	0.114		NA											22	22					0	0	0	0
KIAA0895	23366	broad.mit.edu	37	7	36397151	36397151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36397151T>C	uc003tfd.2	-	3	278	c.227A>G	c.(226-228)AAT>AGT	p.N76S	KIAA0895_uc003tfc.2_Missense_Mutation_p.N63S|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.N25S|KIAA0895_uc011kax.1_Missense_Mutation_p.N25S|KIAA0895_uc003tfe.2_Missense_Mutation_p.N63S|KIAA0895_uc011kay.1_Missense_Mutation_p.N25S	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	76											0						ATCTTCTGCATTTAGAATAGA	0.343		NA											9	23					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	36895281	36895281	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36895281C>A	uc003tfk.1	-	22	2366	c.2059G>T	c.(2059-2061)GAC>TAC	p.D687Y	ELMO1_uc003tfi.1_Missense_Mutation_p.D207Y|ELMO1_uc003tfj.1_Missense_Mutation_p.D207Y|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.D591Y|ELMO1_uc010kxg.1_Missense_Mutation_p.D687Y	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	687					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						AGCAGGGTGTCCAGGTCATTC	0.577		NA											39	99					2.59e-14	4.55e-14	1	0
PKD1L1	168507	broad.mit.edu	37	7	47898472	47898472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:47898472C>G	uc003tny.1	-	27	4161	c.4161G>C	c.(4159-4161)ATG>ATC	p.M1387I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1387	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAACCGCACTCATAAAGCCTA	0.498		NA											9	26					0	0	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514817	50514817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:50514817T>A	uc003tpc.2	-	4	546	c.169A>T	c.(169-171)AAA>TAA	p.K57*	FIGNL1_uc003tpb.2_Intron|FIGNL1_uc003tpd.2_Nonsense_Mutation_p.K57*|FIGNL1_uc003tpe.2_Nonsense_Mutation_p.K57*|FIGNL1_uc010kyy.2_Nonsense_Mutation_p.K57*	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	57					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGAACAGTTTGGTAGCACAG	0.393		NA											15	42					0	0	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853353	70853353	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:70853353G>A	uc003tvy.2	+	3	555	c.555G>A	c.(553-555)AAG>AAA	p.K185K	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	185	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCTGAAGGAAATCATTC	0.542		NA											17	27					0	0	0	0
LAT2	7462	broad.mit.edu	37	7	73638999	73638999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:73638999C>T	uc003uag.2	+	13	1209	c.659C>T	c.(658-660)CCG>CTG	p.P220L	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.P220L|LAT2_uc003uai.2_Missense_Mutation_p.P220L|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	220	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						TCCCCTGGCCCGGTGGGAAGC	0.612		NA											6	6					0	0	0	0
SEMA3C	10512	broad.mit.edu	37	7	80394488	80394488	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:80394488C>G	uc003uhj.2	-	13	1988	c.1426G>C	c.(1426-1428)GAG>CAG	p.E476Q	SEMA3C_uc011kgw.1_Missense_Mutation_p.E494Q	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	476	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACTTCCAGCTCCTCCAGAATG	0.388		NA											23	49					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81388078	81388078	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:81388078G>T	uc003uhl.2	-	3	462	c.297C>A	c.(295-297)TTC>TTA	p.F99L	HGF_uc003uhm.2_Missense_Mutation_p.F99L|HGF_uc003uhn.1_Missense_Mutation_p.F99L|HGF_uc003uho.1_Missense_Mutation_p.F99L|HGF_uc003uhp.2_Missense_Mutation_p.F99L	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	99	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						TATTGAAGGGGAACCAGAGGC	0.318		NA											36	59					6.53e-18	1.19e-17	1	0
GRM3	2913	broad.mit.edu	37	7	86394734	86394734	+	Missense_Mutation	SNP	G	G	C	rs150518450		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86394734G>C	uc003uid.2	+	2	1372	c.273G>C	c.(271-273)TTG>TTC	p.L91F	GRM3_uc010lef.2_Missense_Mutation_p.L89F|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	91	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTGAAGTTGGGTGTTCACA	0.433		NA											31	126					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86415633	86415633	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86415633C>A	uc003uid.2	+	3	1624	c.525C>A	c.(523-525)AGC>AGA	p.S175R	GRM3_uc010lef.2_Missense_Mutation_p.S173R|GRM3_uc010leg.2_Missense_Mutation_p.S47R|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	175	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCACCAGCGCCAAACTCA	0.552		NA											59	132					2.3e-20	4.21e-20	1	0
AKAP9	10142	broad.mit.edu	37	7	91631454	91631454	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:91631454T>G	uc003ulg.2	+	8	2448	c.2223T>G	c.(2221-2223)CTT>CTG	p.L741L	AKAP9_uc003ule.2_Silent_p.L753L|AKAP9_uc003ulf.2_Silent_p.L741L|AKAP9_uc003uli.2_Silent_p.L366L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	753	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGTACACTTGAACAAGAAG	0.294		NA	T	BRAF	papillary thyroid								10	53					0	0	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95668588	95668588	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:95668588G>T	uc003uoc.3	+	14	1693	c.1416_splice	c.e14-1	p.S472_splice	DYNC1I1_uc003uod.3_Splice_Site_p.S455_splice|DYNC1I1_uc003uob.2_Splice_Site_p.S435_splice|DYNC1I1_uc003uoe.3_Splice_Site_p.S452_splice|DYNC1I1_uc010lfl.2_Splice_Site_p.S461_splice	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTCCTACAGCAAAGCAGGT	0.448		NA											33	161					2.5e-28	4.72e-28	1	0
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:100677500C>A	uc003uxp.1	+	3	2856	c.2803C>A	c.(2803-2805)CCG>ACG	p.P935T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	935	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517		NA											130	553					1.03e-33	1.96e-33	1	0
RELN	5649	broad.mit.edu	37	7	103130227	103130227	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:103130227G>T	uc003vca.2	-	60	9885	c.9725C>A	c.(9724-9726)ACG>AAG	p.T3242K	RELN_uc010liz.2_Missense_Mutation_p.T3242K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3242	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACCGGTCGTGCAGTATCC	0.458		NA											10	36					7.48e-07	1.14e-06	1	0
RINT1	60561	broad.mit.edu	37	7	105177012	105177012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:105177012G>A	uc003vda.1	+	3	320	c.89G>A	c.(88-90)AGT>AAT	p.S30N	RINT1_uc010ljj.1_Translation_Start_Site	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	30					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						TTTGTTGTAGGTGACATAAAT	0.318		NA											43	52					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508711	106508711	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:106508711C>G	uc003vdv.3	+	2	790	c.705C>G	c.(703-705)GTC>GTG	p.V235V	PIK3CG_uc003vdu.2_Silent_p.V235V|PIK3CG_uc003vdw.2_Silent_p.V235V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	235					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CCATTAAGGTCTCACCCGACG	0.547		NA											35	84					0	0	0	0
LAMB1	3912	broad.mit.edu	37	7	107599899	107599899	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:107599899C>A	uc003vew.2	-	20	2820	c.2485G>T	c.(2485-2487)GTC>TTC	p.V829F	LAMB1_uc003vev.2_Missense_Mutation_p.V853F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	829	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGCATTGACAGATCCTTGC	0.507		NA											17	59					1.68e-08	2.68e-08	1	0
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:122342350G>A	uc003vkk.1	-	1	672	c.455C>T	c.(454-456)GCG>GTG	p.A152V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.A54V	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	152	PA.					integral to membrane	zinc ion binding				0						TATCATCACCGCGACTATATT	0.463		NA											117	264					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866875	131866875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:131866875C>T	uc003vra.3	-	17	3462	c.3233G>A	c.(3232-3234)GGA>GAA	p.G1078E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1078	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CTCCTTCCCTCCATGCTTGGC	0.557		NA											24	37					0	0	0	0
DGKI	9162	broad.mit.edu	37	7	137148340	137148340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:137148340T>C	uc003vtt.2	-	28	2655	c.2654A>G	c.(2653-2655)AAT>AGT	p.N885S	DGKI_uc003vtu.2_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	885					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CAGGGCAGGATTCCACCAGTC	0.502		NA											24	30					0	0	0	0
UBN2	254048	broad.mit.edu	37	7	138944065	138944065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:138944065A>G	uc011kqr.1	+	5	854	c.854A>G	c.(853-855)GAG>GGG	p.E285G	UBN2_uc003vuv.2_Missense_Mutation_p.E8G	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	285	Lys-rich.									ovary(1)|skin(1)	2						AAGCGGAAAGAGGAAGGGGAA	0.388		NA											10	63					0	0	0	0
BRAF	673	broad.mit.edu	37	7	140482832	140482832	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:140482832T>G	uc003vwc.3	-	10	1364	c.1303A>C	c.(1303-1305)AGG>CGG	p.R435R		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	435					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTCGATTCCTGTCTTCTGAG	0.388		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				16	30					0	0	0	0
TRPV5	56302	broad.mit.edu	37	7	142625329	142625329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142625329T>C	uc003wby.1	-	7	1027	c.763A>G	c.(763-765)ATG>GTG	p.M255V	TRPV5_uc003wbz.2_Missense_Mutation_p.M255V	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	255	ANK 5.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TGCTGGAACATCTGAGAGACC	0.567		NA											13	93					0	0	0	0
KEL	3792	broad.mit.edu	37	7	142640671	142640671	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142640671G>T	uc003wcb.2	-	15	1815	c.1605C>A	c.(1603-1605)TCC>TCA	p.S535S		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	535	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CGTCCCAAGGGGACACCTTCC	0.552		NA											13	57					2.68e-12	4.55e-12	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175187	143175187	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143175187C>A	uc003wdc.1	+	1	222	c.222C>A	c.(220-222)GTC>GTA	p.V74V	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	74	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)					CCCAGAAGGTCGAGTACTCTG	0.552		NA											25	110					2.22e-12	3.77e-12	1	0
OR2F1	26211	broad.mit.edu	37	7	143657334	143657334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143657334G>T	uc003wds.1	+	1	315	c.271G>T	c.(271-273)GCC>TCC	p.A91S		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					AGAACATAAAGCCATCCCATT	0.502		NA											49	178					7.77e-23	1.44e-22	1	0
VIPR2	7434	broad.mit.edu	37	7	158835786	158835786	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:158835786C>A	uc003woh.2	-	6	723	c.537G>T	c.(535-537)AAG>AAT	p.K179N	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	179	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GAACGTCGTCCTTGACCAGCA	0.527		NA											13	40					0.000151284	0.000215542	1	0
MYOM2	9172	broad.mit.edu	37	8	2044190	2044190	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:2044190G>T	uc003wpx.3	+	18	2367	c.2229G>T	c.(2227-2229)CTG>CTT	p.L743L	MYOM2_uc011kwi.1_Silent_p.L168L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	743	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGCCCATCCTGGGCTACTACC	0.532		NA											13	60					1.58e-08	2.54e-08	1	0
DLC1	10395	broad.mit.edu	37	8	13356615	13356615	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:13356615C>T	uc003wwm.2	-	2	1410	c.966G>A	c.(964-966)AAG>AAA	p.K322K	DLC1_uc003wwn.2_Silent_p.K322K|DLC1_uc011kxy.1_Silent_p.K322K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	322					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CCAGGGTCTCCTTTAATTGTA	0.428		NA											16	44					0	0	0	0
NUDT18	79873	broad.mit.edu	37	8	21965720	21965720	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:21965720A>T	uc003xaq.1	-	5	419	c.300T>A	c.(298-300)TGT>TGA	p.C100*	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	100	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCTCGGGCTCACAGTGCAGCC	0.697		NA											3	22					0	0	0	0
DUSP4	1846	broad.mit.edu	37	8	29207392	29207392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:29207392G>A	uc003xhm.2	-	1	794	c.404C>T	c.(403-405)GCC>GTC	p.A135V	DUSP4_uc003xhl.2_5'Flank	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	135	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGTGCGCTCGGCGTTGCGGCG	0.687		NA											13	16					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39682336	39682336	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682336A>T	uc003xnj.2	-	4	342	c.267_splice	c.e4+1	p.Q89_splice	ADAM2_uc003xnk.2_Splice_Site_p.Q89_splice|ADAM2_uc011lck.1_Splice_Site_p.Q89_splice|ADAM2_uc003xnl.2_Splice_Site_p.Q89_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAAAACATACCTGAAAATC	0.318		NA											6	30					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39682401	39682401	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682401A>T	uc003xnj.2	-	4	279	c.204T>A	c.(202-204)CAT>CAA	p.H68Q	ADAM2_uc003xnk.2_Missense_Mutation_p.H68Q|ADAM2_uc011lck.1_Missense_Mutation_p.H68Q|ADAM2_uc003xnl.2_Missense_Mutation_p.H68Q	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	68					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTAAAATTATGGGGTAAAA	0.269		NA											13	33					0	0	0	0
SNTG1	54212	broad.mit.edu	37	8	51449264	51449264	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:51449264G>T	uc010lxy.1	+	12	947	c.576G>T	c.(574-576)CCG>CCT	p.P192P	SNTG1_uc003xqs.1_Silent_p.P192P|SNTG1_uc010lxz.1_Silent_p.P192P|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	192					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTCGTGGCCGACGTCTCCAG	0.463		NA											35	131					5.44e-19	9.91e-19	1	0
ST18	9705	broad.mit.edu	37	8	53045843	53045843	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:53045843G>A	uc003xqz.2	-	15	2475	c.2319C>T	c.(2317-2319)TGC>TGT	p.C773C	ST18_uc011ldq.1_Silent_p.C420C|ST18_uc011ldr.1_Silent_p.C738C|ST18_uc011lds.1_Silent_p.C678C|ST18_uc003xra.2_Silent_p.C773C	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	773	C2HC-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522		NA											16	70					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55538431	55538431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:55538431G>T	uc003xsd.1	+	4	2137	c.1989G>T	c.(1987-1989)AAG>AAT	p.K663N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	663			K -> N (in RP1; uncertain pathogenicity).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAAGAAGATTTTGTCAT	0.363		NA											8	33					1.07e-07	1.67e-07	1	0
ADHFE1	137872	broad.mit.edu	37	8	67357536	67357536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:67357536G>A	uc003xwb.3	+	6	471	c.437G>A	c.(436-438)TGT>TAT	p.C146Y	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.C98Y|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.C76Y|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	146					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATGGACACCTGTAAGGCTGCT	0.478		NA											35	116					0	0	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042283	86042283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86042283C>A	uc003ycw.2	+	11	1910	c.1756C>A	c.(1756-1758)CAG>AAG	p.Q586K	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.Q287K|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q493K|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q566K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	586	Potential.				cell division|mitosis	centriole|nucleus					0						ATTGAAAGAACAGGAACACAG	0.348		NA											13	49					4.37e-10	7.18e-10	1	0
CA3	761	broad.mit.edu	37	8	86351950	86351950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86351950A>T	uc003ydj.2	+	2	127	c.44A>T	c.(43-45)CAC>CTC	p.H15L	CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	15					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GGTCCTGACCACTGGCATGAA	0.473		NA											9	25					0	0	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054596	104054596	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:104054596T>G	uc003ykz.3	+	3	406	c.161T>G	c.(160-162)TTG>TGG	p.L54W	ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.L54W|ATP6V1C1_uc011lhl.1_Intron	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	54					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGTTGGCTTGTCAGATGAA	0.363		NA											75	45					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509197	110509197	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:110509197T>A	uc003yne.2	+	64	10481	c.10377T>A	c.(10375-10377)GGT>GGA	p.G3459G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3459	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGGAGGTTTATATGGGA	0.388		NA								HNSCC(38;0.096)			38	93					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113694687	113694687	+	Silent	SNP	C	C	T	rs147640061		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:113694687C>T	uc003ynu.2	-	16	2820	c.2661G>A	c.(2659-2661)CTG>CTA	p.L887L	CSMD3_uc003yns.2_Silent_p.L159L|CSMD3_uc003ynt.2_Silent_p.L847L|CSMD3_uc011lhx.1_Silent_p.L783L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	887	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATTTTGGAATCAGTCCACTCC	0.353		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	88					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	114111075	114111075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:114111075C>T	uc003ynu.2	-	5	986	c.827G>A	c.(826-828)GGG>GAG	p.G276E	CSMD3_uc003ynt.2_Missense_Mutation_p.G236E|CSMD3_uc011lhx.1_Missense_Mutation_p.G276E|CSMD3_uc010mcx.1_Missense_Mutation_p.G276E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	276	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATTGTGTCCCCAGGCTCTGC	0.393		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	24					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121290348	121290348	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121290348A>T	uc003yox.2	+	27	3479	c.3214_splice	c.e27-2	p.V1072_splice	COL14A1_uc003yoz.2_Splice_Site_p.V37_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TTCTCTCTCCAGGTTGCAATG	0.373		NA											28	126					0	0	0	0
MTBP	27085	broad.mit.edu	37	8	121475942	121475942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121475942A>G	uc003ypc.1	+	10	1033	c.988A>G	c.(988-990)AAC>GAC	p.N330D	MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	330					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTGACAAACAGTACCAA	0.353		NA											25	132					0	0	0	0
MYC	4609	broad.mit.edu	37	8	128753114	128753114	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:128753114G>A	uc003ysi.2	+	3	1800	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	410					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCAGAGGAGCAAAAGCTCA	0.458		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL								42	282					0	0	0	0
TG	7038	broad.mit.edu	37	8	134107379	134107379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:134107379T>C	uc003ytw.2	+	42	7372	c.7331T>C	c.(7330-7332)ATG>ACG	p.M2444T	TG_uc010mdw.2_Missense_Mutation_p.M1203T|TG_uc011ljb.1_Missense_Mutation_p.M813T|TG_uc011ljc.1_Missense_Mutation_p.M577T|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2444					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTTGCCCCATGTCATCCAGC	0.587		NA											124	110					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139824102	139824102	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:139824102T>A	uc003yvd.2	-	9	1836	c.1389A>T	c.(1387-1389)CCA>CCT	p.P463P		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	463	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCACTGCCTGGGGTGGGAG	0.602		NA								HNSCC(7;0.00092)			8	30					0	0	0	0
GPR20	2843	broad.mit.edu	37	8	142367609	142367609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:142367609G>A	uc003ywf.2	-	2	504	c.415C>T	c.(415-417)CTC>TTC	p.L139F		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	139	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGAGGAAGAGGATGGAGCAG	0.687		NA											13	58					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144996134	144996134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:144996134G>T	uc003zaf.1	-	32	8436	c.8266C>A	c.(8266-8268)CAG>AAG	p.Q2756K	PLEC_uc003zab.1_Missense_Mutation_p.Q2619K|PLEC_uc003zac.1_Missense_Mutation_p.Q2623K|PLEC_uc003zad.2_Missense_Mutation_p.Q2619K|PLEC_uc003zae.1_Missense_Mutation_p.Q2587K|PLEC_uc003zag.1_Missense_Mutation_p.Q2597K|PLEC_uc003zah.2_Missense_Mutation_p.Q2605K|PLEC_uc003zaj.2_Missense_Mutation_p.Q2646K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2756	Globular 2.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCAGCCACCTGCGAGGCAGTG	0.682		NA											20	34					3.52e-12	5.95e-12	1	0
BNC2	54796	broad.mit.edu	37	9	16437438	16437438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:16437438C>T	uc003zml.2	-	6	894	c.754G>A	c.(754-756)GGA>AGA	p.G252R	BNC2_uc011lmw.1_Missense_Mutation_p.G157R|BNC2_uc003zmm.2_Missense_Mutation_p.G210R|BNC2_uc003zmq.1_Missense_Mutation_p.G266R|BNC2_uc003zmr.1_Missense_Mutation_p.G289R|BNC2_uc003zmp.1_Missense_Mutation_p.G280R|BNC2_uc010mij.1_Missense_Mutation_p.G174R|BNC2_uc011lmv.1_Missense_Mutation_p.G78R|BNC2_uc003zmo.1_Missense_Mutation_p.G174R|BNC2_uc003zmj.2_Missense_Mutation_p.G17R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.G17R|BNC2_uc003zmn.1_Missense_Mutation_p.G17R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGTTTCTCCAAACCGCAGA	0.502		NA											23	65					0	0	0	0
PLAA	9373	broad.mit.edu	37	9	26925866	26925866	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:26925866A>G	uc003zqd.2	-	6	1251	c.826T>C	c.(826-828)TGC>CGC	p.C276R	PLAA_uc003zqe.2_Missense_Mutation_p.C276R	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	276	WD 7.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACACAGCAGCACCATATAGAC	0.418		NA											21	13					0	0	0	0
DDX58	23586	broad.mit.edu	37	9	32493895	32493895	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:32493895T>G	uc003zra.2	-	3	445	c.287A>C	c.(286-288)AAA>ACA	p.K96T	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.K51T|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_Missense_Mutation_p.K25T	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	96	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTTTCAATTTTTTTGAAATC	0.294		NA											19	5					0	0	0	0
APBA1	320	broad.mit.edu	37	9	72073080	72073080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:72073080T>C	uc004ahh.2	-	6	1783	c.1507A>G	c.(1507-1509)AGG>GGG	p.R503G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	503	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ACCTTCTTCCTGCTTTTGGCT	0.368		NA											8	54					0	0	0	0
DAPK1	1612	broad.mit.edu	37	9	90321930	90321930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90321930G>A	uc004apc.2	+	26	4082	c.3944G>A	c.(3943-3945)CGC>CAC	p.R1315H	DAPK1_uc004apd.2_Missense_Mutation_p.R1315H|DAPK1_uc011ltg.1_Missense_Mutation_p.R1249H|DAPK1_uc011lth.1_Missense_Mutation_p.R1052H|DAPK1_uc004apg.2_Missense_Mutation_p.R292H	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1315	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AAACTGAGTCGCCTGCTGGAC	0.597		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				44	66					0	0	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535519	90535519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90535519C>A	uc010mqi.2	+	4	726	c.697C>A	c.(697-699)CCG>ACG	p.P233T	FAM75C1_uc004apq.3_Missense_Mutation_p.P216T	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						TCCACCTCCTCCGAAAGGCTT	0.587		NA											149	231					8.49e-55	1.63e-54	1	0
KIAA1529	57653	broad.mit.edu	37	9	100070394	100070394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:100070394C>T	uc011lut.1	+	14	1371	c.598C>T	c.(598-600)CAG>TAG	p.Q200*	KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q200*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q61*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.Q61*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.Q61*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.Q61*	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GAAAGCCTACCAGCAGATCTT	0.617		NA											30	47					0	0	0	0
RNF20	56254	broad.mit.edu	37	9	104314536	104314536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:104314536C>G	uc004bbn.2	+	12	1612	c.1522C>G	c.(1522-1524)CTG>GTG	p.L508V		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	508	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAGTCTGACCTGAACAAGGT	0.443		NA											26	116					0	0	0	0
OR13C2	392376	broad.mit.edu	37	9	107367190	107367190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:107367190G>C	uc011lvq.1	-	1	719	c.719C>G	c.(718-720)ACC>AGC	p.T240S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGCTGAACAGGTAGAGGAAGC	0.403		NA											21	90					0	0	0	0
ZNF462	58499	broad.mit.edu	37	9	109687822	109687822	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109687822G>C	uc004bcz.2	+	3	1918	c.1629G>C	c.(1627-1629)CCG>CCC	p.P543P	ZNF462_uc010mto.2_Silent_p.P391P|ZNF462_uc004bda.2_Silent_p.P391P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	543					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AACAGccaccgcagccaccac	0.433		NA											5	32					0	0	0	0
ZNF462	58499	broad.mit.edu	37	9	109691031	109691031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109691031C>T	uc004bcz.2	+	3	5127	c.4838C>T	c.(4837-4839)CCG>CTG	p.P1613L	ZNF462_uc010mto.2_Missense_Mutation_p.P1461L|ZNF462_uc004bda.2_Missense_Mutation_p.P1461L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1613					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CAGTCGCCCCCGAAGCTGCCA	0.537		NA											24	123					0	0	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111735078	111735078	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:111735078T>C	uc004bdo.1	-	9	1266	c.1224A>G	c.(1222-1224)CTA>CTG	p.L408L	CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.L408L|CTNNAL1_uc004bdp.1_Silent_p.L408L|CTNNAL1_uc004bdq.1_5'UTR	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	408					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		GGTATTTTAATAGATCTGCTG	0.453		NA											27	69					0	0	0	0
ZNF883	169834	broad.mit.edu	37	9	115760475	115760475	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:115760475T>C	uc011lwy.1	-	5	1304	c.65A>G	c.(64-66)TAC>TGC	p.Y22C		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	22	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGACAAGTGTAGCCTTTCCC	0.368		NA											42	67					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120476305	120476305	+	Silent	SNP	C	C	T	rs140661916		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:120476305C>T	uc004bjz.2	+	3	2190	c.1899C>T	c.(1897-1899)ATC>ATT	p.I633I	TLR4_uc004bka.2_Silent_p.I593I|TLR4_uc004bkb.2_Silent_p.I433I	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	633	Helical; (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						ATAAGACCATCATTGGTGTGT	0.438		NA											6	35					0	0	0	0
VAV2	7410	broad.mit.edu	37	9	136635537	136635537	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:136635537C>A	uc004ces.2	-	27	2356	c.2310G>T	c.(2308-2310)CGG>CGT	p.R770R	VAV2_uc004cer.2_Silent_p.R760R|VAV2_uc004cet.1_Silent_p.R309R	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	770					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCGAACGTTCCCGGGACTTGT	0.647		NA											12	74					1.09e-07	1.69e-07	1	0
SNAPC4	6621	broad.mit.edu	37	9	139290116	139290116	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:139290116T>A	uc004chh.2	-	3	293	c.284A>T	c.(283-285)GAG>GTG	p.E95V		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	95	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGATGACCTCCTGGTAGAC	0.632		NA											88	152					0	0	0	0
PNPLA7	375775	broad.mit.edu	37	9	140357226	140357226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140357226C>A	uc004cnf.2	-	29	3665	c.3328G>T	c.(3328-3330)GAT>TAT	p.D1110Y	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.D376Y|PNPLA7_uc004cne.1_Missense_Mutation_p.D376Y|PNPLA7_uc011mfa.1_Missense_Mutation_p.D518Y|PNPLA7_uc010ncj.1_Missense_Mutation_p.D1135Y	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1110					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCGTCTCATCTCGGCTGCCC	0.617		NA											29	60					2.68e-12	4.55e-12	1	0
MAGEB4	4115	broad.mit.edu	37	X	30261232	30261232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:30261232C>T	uc004dcb.2	+	1	1064	c.980C>T	c.(979-981)ACT>ATT	p.T327I	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	327										ovary(1)	1						AGGCGTGGCACTACAGCCATG	0.517		NA											14	69					0	0	0	0
MSN	4478	broad.mit.edu	37	X	64959704	64959704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:64959704G>T	uc004dwf.2	+	13	1881	c.1683G>T	c.(1681-1683)CAG>CAT	p.Q561H		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	561					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						CCCTGCGCCAGATCCGGCAGG	0.547		NA	T	ALK	ALCL								24	27					1.18e-14	2.08e-14	1	0
RAB41	347517	broad.mit.edu	37	X	69502178	69502178	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:69502178G>T	uc004dyc.2	+	1	111	c.111G>T	c.(109-111)CTG>CTT	p.L37L	RAB41_uc010nkv.2_Silent_p.L27L	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4						TCTTATTCCTGGGAGAGCAGA	0.557		NA											13	9					9.05e-12	1.52e-11	1	0
LPAR4	2846	broad.mit.edu	37	X	78011270	78011270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:78011270C>A	uc010nme.2	+	2	1309	c.904C>A	c.(904-906)CTG>ATG	p.L302M		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	302	Helical; Name=7; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						CCTTGCAACTCTGAACTGTTG	0.423		NA											22	11					8.1e-08	1.27e-07	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009299	88009299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:88009299C>A	uc004efd.3	+	3	1143	c.884C>A	c.(883-885)TCA>TAA	p.S295*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.S295*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	295						intracellular	zinc ion binding			ovary(3)	3						AGACAACATTCATGCAGCTCT	0.299		NA											16	2					2e-07	3.1e-07	1	0
DIAPH2	1730	broad.mit.edu	37	X	96396710	96396710	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:96396710T>C	uc004efu.3	+	22	3032	c.2636T>C	c.(2635-2637)TTT>TCT	p.F879S	DIAPH2_uc004eft.3_Missense_Mutation_p.F879S	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	879	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						CTTTTGCATTTTATTGCCGAC	0.308		NA											12	21					0	0	0	0
PCDH19	57526	broad.mit.edu	37	X	99551562	99551562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551562C>G	uc010nmz.2	-	6	4836	c.3160G>C	c.(3160-3162)GAG>CAG	p.E1054Q	PCDH19_uc004efw.3_Missense_Mutation_p.E1006Q|PCDH19_uc004efx.3_Missense_Mutation_p.E1007Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1054	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TTGCCTGCCTCCCGGATAACG	0.597		NA											32	31					0	0	0	0
IRS4	8471	broad.mit.edu	37	X	107978532	107978532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:107978532C>T	uc004eoc.2	-	1	1076	c.1043G>A	c.(1042-1044)GGC>GAC	p.G348D		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	348						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CAGGTGGGCGCCGATGCTGAT	0.592		NA											76	185					0	0	0	0
AMOT	154796	broad.mit.edu	37	X	112054479	112054479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:112054479C>A	uc004epr.2	-	3	1535	c.1535G>T	c.(1534-1536)AGA>ATA	p.R512I	AMOT_uc004eps.2_Missense_Mutation_p.R103I|AMOT_uc004ept.1_Missense_Mutation_p.R512I	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	512	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TCCCTCACCTCTCAGATCCCT	0.512		NA											86	77					6.12e-30	1.16e-29	1	0
ODZ1	10178	broad.mit.edu	37	X	123615699	123615699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:123615699C>A	uc004euj.2	-	21	3875	c.3811G>T	c.(3811-3813)GAT>TAT	p.D1271Y	ODZ1_uc011muj.1_Missense_Mutation_p.D1277Y|ODZ1_uc010nqy.2_Missense_Mutation_p.D1278Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1271	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGGACAGATCTTTCGTCTCC	0.458		NA											53	44					2.43e-16	4.35e-16	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299776	125299776	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:125299776C>T	uc004euk.1	-	1	159	c.132G>A	c.(130-132)CGG>CGA	p.R44R		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	44										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCGTCGCCGGCCGCTTCTGCT	0.731		NA											44	3					0	0	0	0
SASH3	54440	broad.mit.edu	37	X	128926745	128926745	+	Missense_Mutation	SNP	G	G	C	rs35096611	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:128926745G>C	uc011mun.1	+	6	916	c.734G>C	c.(733-735)CGA>CCA	p.R245P	SASH3_uc004euu.2_Missense_Mutation_p.R245P|SASH3_uc011muo.1_Missense_Mutation_p.R212P	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	245										ovary(2)|pancreas(1)	3						CCCAGCCGCCGACAGAGCAAG	0.597		NA											51	9					0	0	0	0
BCORL1	63035	broad.mit.edu	37	X	129149304	129149304	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:129149304G>T	uc004evb.1	+	4	2670	c.2556G>T	c.(2554-2556)CTG>CTT	p.L852L	BCORL1_uc010nrd.1_Silent_p.L754L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	852					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCGGGCAGCTGACCCCCAGTC	0.617		NA											83	27					2.13e-38	4.07e-38	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716919	142716919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:142716919C>T	uc004fbx.2	-	2	2382	c.2006G>A	c.(2005-2007)AGG>AAG	p.R669K	SLITRK4_uc004fby.2_Missense_Mutation_p.R669K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	669	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGCTTCCTTAGCTGCAG	0.473		NA											40	138					0	0	0	0
CNGA2	1260	broad.mit.edu	37	X	150912139	150912139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:150912139G>T	uc004fey.1	+	7	1388	c.1164G>T	c.(1162-1164)AAG>AAT	p.K388N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGCTAAGATCGATGCCG	0.502		NA											17	77					1.57e-10	2.61e-10	1	0
SMTNL1	219537	broad.mit.edu	37	11	57313764	57313764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:57313764delG	uc009ymh.1	+	6	1186	c.1186delG	c.(1186-1188)GGTfs	p.G396fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	378										ovary(1)	1						GGCAGCCATTGGTGGTGTCAA	0.637		NA											8	10	---	---	---	---	NA	NA	NA	NA
CENPJ	55835	broad.mit.edu	37	13	25479525	25479525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:25479525delC	uc001upt.3	-	7	2904	c.2651delG	c.(2650-2652)GGAfs	p.G884fs	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	884					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTCATTTCCCAAGTGTGA	0.373		NA											18	48	---	---	---	---	NA	NA	NA	NA
INSM1	3642	broad.mit.edu	37	20	20350324	20350325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:20350324_20350325insA	uc002wrx.2	+	1	1560_1561	c.1413_1414insA	c.(1411-1416)TGCAAGfs	p.C471fs		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	471_472	C2H2-type 5.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		TGTTCCCCTGCAAGTACTGCCC	0.658		NA											10	51	---	---	---	---	NA	NA	NA	NA
ZCWPW2	152098	broad.mit.edu	37	3	28562532	28562532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:28562532delG	uc003ceh.2	+	9	1002	c.834delG	c.(832-834)CAGfs	p.Q278fs	ZCWPW2_uc003cei.2_Frame_Shift_Del_p.Q278fs|ZCWPW2_uc010hfo.2_Frame_Shift_Del_p.Q83fs	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	278							zinc ion binding			ovary(2)	2						AAATGCTGCAGCAAGCACTGC	0.373		NA											16	19	---	---	---	---	NA	NA	NA	NA
SCHIP1	29970	broad.mit.edu	37	3	158980399	158980399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:158980399delC	uc003fcq.1	+	4	323	c.218delC	c.(217-219)TCCfs	p.S73fs	SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Frame_Shift_Del_p.S73fs|IQCJ_uc010hvy.1_Frame_Shift_Del_p.S46fs|IQCJ_uc003fcp.1_Frame_Shift_Del_p.S73fs	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	Error:Variant_position_missing_in_Q9P0W5_after_alignment						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			AGGAGCCCGTCCCCACCCTCT	0.522		NA											118	113	---	---	---	---	NA	NA	NA	NA
NUP155	9631	broad.mit.edu	37	5	37331833	37331833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:37331833delA	uc003jku.1	-	14	1701	c.1583delT	c.(1582-1584)GTGfs	p.V528fs	NUP155_uc003jkt.1_Frame_Shift_Del_p.V469fs|NUP155_uc010iuz.1_Frame_Shift_Del_p.V528fs	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	528					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTCCTCCCACATTACTCAC	0.328		NA											31	96	---	---	---	---	NA	NA	NA	NA
GABRA6	2559	broad.mit.edu	37	5	161115970	161115971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161115970_161115971insT	uc003lyu.2	+	4	579_580	c.241_242insT	c.(241-243)GTTfs	p.V81fs	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	81	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCGC	0.401		NA								TCGA Ovarian(5;0.080)			19	44	---	---	---	---	NA	NA	NA	NA
CRISP3	10321	broad.mit.edu	37	6	49698934	49698935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:49698934_49698935insG	uc003ozs.2	-	7	566_567	c.551_552insC	c.(550-552)CCTfs	p.P184fs		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	184					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTTCATAAGGGACATATAG	0.322		NA											8	75	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:21974763delG	uc003zpk.2	-	1	276	c.64delC	c.(64-66)CGGfs	p.R22fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.R22fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	22	ANK 1.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.R22P(1)|p.R22fs*14(1)|p.S12fs*20(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			25	30	---	---	---	---	NA	NA	NA	NA
ENTPD8	377841	broad.mit.edu	37	9	140329398	140329407	+	Frame_Shift_Del	DEL	CAGCCCCCAC	CAGCCCCCAC	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140329398_140329407delCAGCCCCCAC	uc004cmw.2	-	10	1631_1640	c.1447_1456delGTGGGGGCTG	c.(1447-1458)GTGGGGGCTGCCfs	p.V483fs	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Frame_Shift_Del_p.V446fs	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	483_486	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGACCAAGGCAGCCCCCACCACCGCCACC	0.681		NA											11	26	---	---	---	---	NA	NA	NA	NA
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:54209302_54209303insGGCGGC	uc004dsz.3	-	1	412_413	c.329_330insGCCGCC	c.(328-330)CCC>CCGCCGCCC	p.110_110P>PPP	FAM120C_uc011moh.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	110										ovary(1)|central_nervous_system(1)	2						GCAGCTGAGGGGGCGGCGGCGG	0.748		NA											7	2	---	---	---	---	NA	NA	NA	NA
PCDH19	57526	broad.mit.edu	37	X	99551615	99551615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551615delT	uc010nmz.2	-	6	4783	c.3107delA	c.(3106-3108)AAGfs	p.K1036fs	PCDH19_uc004efw.3_Frame_Shift_Del_p.K988fs|PCDH19_uc004efx.3_Frame_Shift_Del_p.K989fs	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1036	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GACAGTCCTCTTGCCTTTCAG	0.597		NA											28	40	---	---	---	---	NA	NA	NA	NA