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
MEGF6	1953	broad.mit.edu	37	1	3422007	3422007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:3422007G>A	uc001akl.2	-	16	2259	c.2032C>T	c.(2032-2034)CGG>TGG	p.R678W	MEGF6_uc001akk.2_Missense_Mutation_p.R573W	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	678						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTCGCCCCGGAAGCCAGCC	0.697		NA											3	9					0	0	0	0
SPEN	23013	broad.mit.edu	37	1	16203028	16203028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16203028C>T	uc001axk.1	+	3	940	c.736C>T	c.(736-738)CAT>TAT	p.H246Y	SPEN_uc010obp.1_Missense_Mutation_p.H205Y	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	246	Ser-rich.|Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGGTCACCACATTCATCCCA	0.542		NA											30	30					0	0	0	0
HSPG2	3339	broad.mit.edu	37	1	22169404	22169404	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:22169404C>T	uc001bfj.2	-	67	8809	c.8769G>A	c.(8767-8769)CTG>CTA	p.L2923L	HSPG2_uc009vqd.2_Silent_p.L2924L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2923	Ig-like C2-type 14.				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)	TGGGCTGGGCCAGTCCTGGAG	0.637		NA											6	54					0	0	0	0
TCEA3	6920	broad.mit.edu	37	1	23724057	23724057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:23724057C>T	uc001bgx.1	-	7	780	c.645G>A	c.(643-645)ATG>ATA	p.M215I	TCEA3_uc009vqn.1_Missense_Mutation_p.M194I	NM_003196	NP_003187	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	215	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTTCTGATGCCATCTTGTCAC	0.498		NA											8	45					0	0	0	0
GRHL3	57822	broad.mit.edu	37	1	24663602	24663602	+	Missense_Mutation	SNP	C	C	T	rs149044763	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:24663602C>T	uc001biy.2	+	5	708	c.662C>T	c.(661-663)CCG>CTG	p.P221L	GRHL3_uc001bix.2_Missense_Mutation_p.P216L|GRHL3_uc001biz.2_Missense_Mutation_p.P123L	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	216					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAAACCTCCCCGGAACCCCCA	0.547		NA											5	25					0	0	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060122	36060122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:36060122G>T	uc010ohy.1	+	7	1382	c.1174G>T	c.(1174-1176)GGC>TGC	p.G392C	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	392	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCACCCATGGCTTCGGTGG	0.587		NA											22	26					5.26e-13	5.86e-13	1	0
GUCA2A	2980	broad.mit.edu	37	1	42628622	42628622	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:42628622C>T	uc001chd.1	-	3	315	c.303G>A	c.(301-303)CCG>CCA	p.P101P		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A precursor	101					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			pancreas(1)	1	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACATGTGCCCGGGTCCTCAG	0.617		NA											10	46					0	0	0	0
CNN3	1266	broad.mit.edu	37	1	95367290	95367290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:95367290C>G	uc010otw.1	-	6	518	c.436G>C	c.(436-438)GAA>CAA	p.E146Q	CNN3_uc010otv.1_Missense_Mutation_p.E105Q|CNN3_uc001dqz.3_Missense_Mutation_p.E146Q|CNN3_uc010otx.1_Missense_Mutation_p.E100Q	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	146					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTTGTTTTTCTGCATACTTA	0.363		NA											8	26					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:120539834A>T	uc001eik.2	-	4	793	c.537T>A	c.(535-537)TGT>TGA	p.C179*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.C179*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.C96*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	179	Extracellular (Potential).|EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				18	37					0	0	0	0
RNASEL	6041	broad.mit.edu	37	1	182555479	182555479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:182555479G>A	uc001gpj.1	-	1	630	c.463C>T	c.(463-465)CGA>TGA	p.R155*	RNASEL_uc009wxz.1_Nonsense_Mutation_p.R155*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.R155*|RNASEL_uc009wya.1_Nonsense_Mutation_p.R155*	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	155					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TTTGTCTTTCGCCTCAAATTC	0.468		NA							Hereditary_Prostate_Cancer				3	23					0	0	0	0
RBM34	23029	broad.mit.edu	37	1	235301488	235301488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:235301488G>A	uc001hwn.2	-	7	733	c.703C>T	c.(703-705)CGT>TGT	p.R235C	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	235	RRM 1.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGAATTTTACGTCTACACCAA	0.333		NA											5	10					0	0	0	0
FMN2	56776	broad.mit.edu	37	1	240256066	240256066	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:240256066A>G	uc010pyd.1	+	1	882	c.657A>G	c.(655-657)CAA>CAG	p.Q219Q	FMN2_uc010pye.1_Silent_p.Q219Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	219	Potential.|Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			agctccagcaacagcagcagc	0.468		NA											6	6					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	17142048	17142048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:17142048C>T	uc001ioo.2	-	14	1773	c.1721G>A	c.(1720-1722)AGA>AAA	p.R574K		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	574	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCATTTCTTAAATGTTC	0.403		NA											22	149					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33208820	33208820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:33208820C>T	uc001iws.3	-	11	1598	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	ITGB1_uc001iwp.3_Missense_Mutation_p.A488T|ITGB1_uc001iwq.3_Missense_Mutation_p.A488T|ITGB1_uc001iwr.3_Missense_Mutation_p.A488T|ITGB1_uc001iwt.3_Missense_Mutation_p.A488T|ITGB1_uc001iwu.1_Missense_Mutation_p.A488T	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	488	Extracellular (Potential).|I.|Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TACCTGCACGCGCCACACTCA	0.453		NA											7	61					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55566403	55566403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:55566403G>C	uc010qhq.1	-	36	5380	c.4985C>G	c.(4984-4986)TCT>TGT	p.S1662C	PCDH15_uc010qhr.1_Missense_Mutation_p.S1657C	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 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)				TTCATCATCAGACTGTGTGTG	0.378		NA								HNSCC(58;0.16)			34	44					0	0	0	0
GHITM	27069	broad.mit.edu	37	10	85903817	85903817	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:85903817A>G	uc001kcs.1	+	4	500	c.296A>G	c.(295-297)TAT>TGT	p.Y99C	GHITM_uc010qma.1_Missense_Mutation_p.M55V|GHITM_uc010qmb.1_Missense_Mutation_p.Y29C	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	99	Helical; (Potential).				apoptosis	integral to membrane|mitochondrial inner membrane					0						TTGTGCTACTATGGCTTGGGA	0.418		NA											34	71					0	0	0	0
CCNJ	54619	broad.mit.edu	37	10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:97810064C>T	uc001klm.2	+	3	480	c.121C>T	c.(121-123)CGG>TGG	p.R41W	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.R41W|CCNJ_uc001kln.2_Missense_Mutation_p.R41W	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	41	Cyclin N-terminal.					nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478		NA											21	47					0	0	0	0
DRD4	1815	broad.mit.edu	37	11	640559	640559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:640559G>A	uc001lqp.1	+	4	1216	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	454	Cytoplasmic (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CTTCAACGCCGAGTTCCGCAA	0.697		NA											16	72					0	0	0	0
MRPL17	63875	broad.mit.edu	37	11	6704513	6704513	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:6704513G>C	uc001men.2	-	1	120	c.15C>G	c.(13-15)GTC>GTG	p.V5V		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17 precursor	5					translation	ribosome	protein domain specific binding|structural constituent of ribosome				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGCTGCAGCGACCGACAGCC	0.632		NA									OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	0	0
MICAL2	9645	broad.mit.edu	37	11	12265567	12265567	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12265567C>A	uc001mjz.2	+	21	2980	c.2692C>A	c.(2692-2694)CAT>AAT	p.H898N	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.H898N|MICAL2_uc010rci.1_Missense_Mutation_p.H898N|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	898						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GTCTCATACTCATCCTCCATC	0.473		NA											30	126					1.89e-17	2.12e-17	1	0
NAV2	89797	broad.mit.edu	37	11	20119263	20119263	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:20119263G>A	uc001mpr.3	+	31	6523	c.6162G>A	c.(6160-6162)GAG>GAA	p.E2054E	NAV2_uc001mpp.2_Silent_p.E1987E|NAV2_uc009yhx.2_Silent_p.E1115E|NAV2_uc009yhz.2_Silent_p.E696E|NAV2_uc001mpu.2_Silent_p.E489E	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2110						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGGTTGGAGAGAACACGACCA	0.478		NA											18	76					0	0	0	0
OR5AR1	219493	broad.mit.edu	37	11	56432082	56432082	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:56432082A>G	uc010rjm.1	+	1	921	c.921A>G	c.(919-921)AAA>AAG	p.K307K		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAATTGGAAAAAAATCTCAAT	0.348		NA											11	14					0	0	0	0
KCNK4	50801	broad.mit.edu	37	11	64065047	64065047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64065047G>A	uc001nzj.1	+	5	906	c.583G>A	c.(583-585)GAG>AAG	p.E195K	KCNK4_uc001nzk.1_Intron|KCNK4_uc010rnk.1_Missense_Mutation_p.E23K|KCNK4_uc001nzl.1_Intron|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.E195K|KCNK4_uc001nzo.2_Missense_Mutation_p.E195K|KCNK4_uc001nzp.1_Missense_Mutation_p.E81K|C11orf20_uc009ypm.2_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	195						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CTGCTATATGGAGGACTGGAG	0.577		NA											12	100					0	0	0	0
EHD1	10938	broad.mit.edu	37	11	64627529	64627529	+	Missense_Mutation	SNP	G	G	A	rs137874978		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64627529G>A	uc001obu.1	-	3	1037	c.782C>T	c.(781-783)CCG>CTG	p.P261L	EHD1_uc001obv.1_Missense_Mutation_p.P261L|EHD1_uc010rnq.1_Missense_Mutation_p.P275L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	261					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						GATGAGGAGCGGGTGGGACCA	0.627		NA											6	71					0	0	0	0
INPPL1	3636	broad.mit.edu	37	11	71942214	71942214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:71942214C>T	uc001osf.2	+	12	1625	c.1478C>T	c.(1477-1479)ACG>ATG	p.T493M	INPPL1_uc001osg.2_Missense_Mutation_p.T251M	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	493					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						AAGGAGCTTACGGATCTGGAT	0.592		NA											154	164					0	0	0	0
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:75152211G>A	uc001owo.3	-	15	2007	c.1470C>T	c.(1468-1470)ATC>ATT	p.I490I	GDPD5_uc001owp.3_Silent_p.I490I|GDPD5_uc001own.3_Silent_p.I245I|GDPD5_uc009yuc.2_Silent_p.I352I|GDPD5_uc009yud.2_Silent_p.I371I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	490	Extracellular (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						AACTCACCATGATCCAGAGGG	0.662		NA											10	35					0	0	0	0
KDM5A	5927	broad.mit.edu	37	12	406330	406330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:406330G>A	uc001qif.1	-	25	4474	c.4111C>T	c.(4111-4113)CCC>TCC	p.P1371S	KDM5A_uc001qie.1_Missense_Mutation_p.P1371S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1371					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						AAAAGATTGGGTTCAAGACTA	0.413		NA	T 	NUP98	AML								22	30					0	0	0	0
ZNF641	121274	broad.mit.edu	37	12	48737262	48737262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:48737262T>C	uc001rrn.1	-	6	976	c.811A>G	c.(811-813)AAA>GAA	p.K271E	ZNF641_uc001rro.1_Missense_Mutation_p.K257E|ZNF641_uc010sls.1_Missense_Mutation_p.K248E	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	271	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						ACAAACTGTTTCCCACACTGG	0.532		NA											13	52					0	0	0	0
KRT7	3855	broad.mit.edu	37	12	52627278	52627278	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:52627278C>T	uc001saa.1	+	1	325	c.198C>T	c.(196-198)GTC>GTT	p.V66V	KRT7_uc009zmf.1_Silent_p.V66V	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	66	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCGCGAGGTCACCATTAACC	0.721		NA											12	15					0	0	0	0
C12orf12	196477	broad.mit.edu	37	12	91348029	91348029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:91348029G>A	uc001tbj.2	-	1	925	c.491C>T	c.(490-492)GCG>GTG	p.A164V		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	164										central_nervous_system(1)|pancreas(1)	2						GCTCACATCCGCTGGCGGGCT	0.687		NA											5	31					0	0	0	0
C12orf63	374467	broad.mit.edu	37	12	97085024	97085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97085024G>T	uc001tet.1	+	11	1553	c.1475G>T	c.(1474-1476)TGC>TTC	p.C492F		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	492										skin(6)|ovary(1)	7						GCTGACATTTGCTCTGTAATT	0.363		NA											11	39					0.000978159	0.00102947	1	0
RPH3A	22895	broad.mit.edu	37	12	113332462	113332462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:113332462G>A	uc010syl.1	+	20	2217	c.1855G>A	c.(1855-1857)GAG>AAG	p.E619K	RPH3A_uc001ttz.2_Missense_Mutation_p.E619K|RPH3A_uc001tty.2_Missense_Mutation_p.E615K|RPH3A_uc009zwe.1_Missense_Mutation_p.E614K|RPH3A_uc010sym.1_Missense_Mutation_p.E570K|RPH3A_uc001tua.2_Missense_Mutation_p.E379K	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	619	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGAATTCAATGAGGTAAGGCT	0.448		NA											3	11					0	0	0	0
MCF2L	23263	broad.mit.edu	37	13	113728844	113728844	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:113728844G>A	uc001vsu.2	+	10	1276	c.1254G>A	c.(1252-1254)CTG>CTA	p.L418L	MCF2L_uc001vsq.2_Silent_p.L418L|MCF2L_uc010tjr.1_Silent_p.L361L|MCF2L_uc001vsr.2_Silent_p.L365L|MCF2L_uc001vss.3_Silent_p.L359L|MCF2L_uc010tjs.1_Silent_p.L359L|MCF2L_uc001vst.1_Silent_p.L323L	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	391	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCTGCTGAGGGACCTGG	0.617		NA											11	76					0	0	0	0
PCNX	22990	broad.mit.edu	37	14	71517433	71517433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:71517433G>T	uc001xmo.2	+	23	4849	c.4403G>T	c.(4402-4404)TGG>TTG	p.W1468L	PCNX_uc010are.1_Missense_Mutation_p.W1357L|PCNX_uc010arf.1_Missense_Mutation_p.W328L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1468						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGATCACATGGGGTTCTGCT	0.388		NA											84	31					6.16e-50	7.01e-50	1	0
DICER1	23405	broad.mit.edu	37	14	95570037	95570037	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:95570037G>A	uc001ydw.2	-	22	3878	c.3696C>T	c.(3694-3696)AGC>AGT	p.S1232S	DICER1_uc010avh.1_Silent_p.S130S|DICER1_uc001ydv.2_Silent_p.S1222S|DICER1_uc001ydx.2_Silent_p.S1232S|DICER1_uc001ydy.1_Silent_p.S84S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1232					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATTCATCGCTGGGCTGGG	0.433		NA	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				39	77					0	0	0	0
IGF1R	3480	broad.mit.edu	37	15	99250815	99250815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:99250815G>T	uc002bul.2	+	2	169	c.119G>T	c.(118-120)CGC>CTC	p.R40L	IGF1R_uc010urq.1_Missense_Mutation_p.R40L|IGF1R_uc010bon.2_Missense_Mutation_p.R40L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	40					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATCGACATCCGCAACGACTAT	0.502		NA											10	11					2.27e-07	2.47e-07	1	0
RNPS1	10921	broad.mit.edu	37	16	2314602	2314602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:2314602T>C	uc002cpt.2	-	2	589	c.43A>G	c.(43-45)AAA>GAA	p.K15E	RNPS1_uc002cpu.2_Missense_Mutation_p.K15E|RNPS1_uc002cpv.2_Intron|RNPS1_uc002cpw.2_Missense_Mutation_p.K15E|RNPS1_uc002cpx.2_Intron|RNPS1_uc010uwa.1_Intron	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	RNA-binding protein S1, serine-rich domain	15	Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Lys-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(1)	1						TTATTTTCTTTGACTCCTAGC	0.443		NA											22	43					0	0	0	0
ZNF646	9726	broad.mit.edu	37	16	31091299	31091299	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:31091299C>T	uc002eap.2	+	2	3943	c.3654C>T	c.(3652-3654)CTC>CTT	p.L1218L		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1218	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CCGGCAGCCTCATCAACCACC	0.637		NA											5	24					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51174003	51174003	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:51174003G>A	uc010vgs.1	-	2	2161	c.2130C>T	c.(2128-2130)ATC>ATT	p.I710I	SALL1_uc010vgr.1_Silent_p.I613I|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	710	C2H2-type 3.				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)			CCCGGTGGCAGATGATGCACT	0.542		NA											28	49					0	0	0	0
GPR97	222487	broad.mit.edu	37	16	57719693	57719693	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:57719693G>A	uc002emh.2	+	11	1498	c.1395G>A	c.(1393-1395)GCG>GCA	p.A465A	GPR97_uc010vhv.1_Silent_p.A345A|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.A73A	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	465	Cytoplasmic (Potential).			A -> V (in Ref. 4; AAH64508).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GTGCTACAGCGGTCAAGGAGC	0.607		NA											8	48					0	0	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289698	68289698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:68289698C>T	uc002evr.2	+	5	615	c.532C>T	c.(532-534)CGC>TGC	p.R178C	PLA2G15_uc010vld.1_Intron|PLA2G15_uc010vle.1_Intron|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	178					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CCTGGCCCTCCGCGAGATGAT	0.607		NA											16	38					0	0	0	0
TMCO7	79613	broad.mit.edu	37	16	69056846	69056846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:69056846G>C	uc002ewi.3	+	16	2970	c.2958G>C	c.(2956-2958)CAG>CAC	p.Q986H		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	986	HEAT 2.					integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGCTGTGCCAGAGGCTGGACT	0.517		NA											4	13					0	0	0	0
KCNG4	93107	broad.mit.edu	37	16	84255948	84255948	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:84255948G>T	uc010voc.1	-	3	1556	c.1435C>A	c.(1435-1437)CAA>AAA	p.Q479K		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	479	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CCGGTGTTTTGGAGGTGGCGG	0.587		NA											34	103					1.42e-22	1.61e-22	1	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7574003G>A	uc002gim.2	-	10	1218	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (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.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.498		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)			20	8					0	0	0	0
AP2B1	163	broad.mit.edu	37	17	34001260	34001260	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:34001260G>A	uc002hjr.2	+	16	2391	c.2202G>A	c.(2200-2202)GGG>GGA	p.G734G	AP2B1_uc002hjq.2_Silent_p.G748G|AP2B1_uc010wci.1_Silent_p.G710G|AP2B1_uc002hjs.2_Silent_p.G677G|AP2B1_uc002hjt.2_Silent_p.G748G|AP2B1_uc010ctv.2_Silent_p.G748G|AP2B1_uc010wcj.1_Silent_p.G485G	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	734					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCGCCAAGGGCACATCTATA	0.418		NA											43	99					0	0	0	0
CASC3	22794	broad.mit.edu	37	17	38320341	38320341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:38320341G>A	uc010cwt.1	+	7	1688	c.1393G>A	c.(1393-1395)GAT>AAT	p.D465N	CASC3_uc010cws.1_Missense_Mutation_p.D465N|CASC3_uc002hue.2_Missense_Mutation_p.D465N	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	465	Necessary for localization in cytoplasmic stress granules.|Nuclear export signal.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						ACTTGAGCAAGATGTGGCACA	0.517		NA											4	30					0	0	0	0
ITGA3	3675	broad.mit.edu	37	17	48145460	48145460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:48145460C>T	uc010dbl.2	+	4	919	c.455C>T	c.(454-456)TCA>TTA	p.S152L	ITGA3_uc010dbm.2_Missense_Mutation_p.S152L	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	152	FG-GAP 2.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TGGTCAGGGTCAGAAGACCAG	0.617		NA											25	82					0	0	0	0
RNMT	8731	broad.mit.edu	37	18	13741657	13741657	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:13741657T>C	uc002ksk.1	+	6	1008	c.941T>C	c.(940-942)TTT>TCT	p.F314S	RNMT_uc002ksl.1_Missense_Mutation_p.F314S|RNMT_uc002ksm.1_Missense_Mutation_p.F314S|RNMT_uc010dlk.2_Missense_Mutation_p.F314S|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	314					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GGGGGCTATTTTATTGGTACT	0.363		NA											11	50					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63511084C>T	uc002ljz.2	+	7	1343	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CDH7_uc002lka.2_Missense_Mutation_p.R340W|CDH7_uc002lkb.2_Missense_Mutation_p.R340W	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	340	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTACACGCTACGGATAGAAGC	0.423		NA											14	26					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63547695	63547695	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63547695C>T	uc002ljz.2	+	12	2248	c.1923C>T	c.(1921-1923)GAC>GAT	p.D641D	CDH7_uc002lkb.2_Silent_p.D641D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	641	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTATTTTTGACGAAGAAAGAG	0.443		NA											8	24					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17004117	17004117	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:17004117G>A	uc002nfb.2	-	42	5633	c.5601C>T	c.(5599-5601)AGC>AGT	p.S1867S	CPAMD8_uc010xpj.1_3'UTR|CPAMD8_uc002nfd.1_3'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1820						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCAGGTTCCCGCTGCTCACAG	0.642		NA											3	2					0	0	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496031	45496031	+	Missense_Mutation	SNP	C	C	T	rs148362509	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:45496031C>T	uc002pai.2	+	14	1901	c.1886C>T	c.(1885-1887)ACG>ATG	p.T629M	CLPTM1_uc010xxf.1_Missense_Mutation_p.T527M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T615M	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	629	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCCACCACGACCACCGCC	0.697		NA											5	35					0	0	0	0
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:53644779G>A	uc002qbb.1	-	5	1371	c.1302C>T	c.(1300-1302)TGC>TGT	p.C434C	ZNF347_uc010eql.1_Silent_p.C435C|ZNF347_uc002qbc.1_Silent_p.C435C	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423		NA											38	51					0	0	0	0
MTA3	57504	broad.mit.edu	37	2	42836614	42836614	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:42836614A>C	uc002rso.1	+	5	709	c.39A>C	c.(37-39)GAA>GAC	p.E13D	MTA3_uc002rsp.1_Missense_Mutation_p.E13D|MTA3_uc002rsq.2_Missense_Mutation_p.E69D|MTA3_uc002rsr.2_Missense_Mutation_p.E69D	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	69	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TTGAGGAAGAATCTGAAACAA	0.343		NA											5	33					0	0	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026288	129026288	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:129026288C>T	uc002tpt.3	-	2	718	c.684G>A	c.(682-684)ACG>ACA	p.T228T		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	228	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGACCAGTCCGTGCCCTCGT	0.662		NA											6	62					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166908262	166908262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:166908262C>G	uc010zcz.1	-	6	949	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	SCN1A_uc002udo.3_Missense_Mutation_p.E180Q|SCN1A_uc010fpk.2_Missense_Mutation_p.E180Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	311	I.					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)	CAGTCAAACTCAAAGACAGTT	0.234		NA											4	21					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179417913	179417913	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179417913T>C	uc010zfg.1	-	284	82234	c.82010A>G	c.(82009-82011)AAT>AGT	p.N27337S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21032S|TTN_uc010zfi.1_Missense_Mutation_p.N20965S|TTN_uc010zfj.1_Missense_Mutation_p.N20840S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28264							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)			TCCTGTATCATTGCGAGTAAC	0.408		NA											8	81					0	0	0	0
CCDC141	285025	broad.mit.edu	37	2	179730517	179730517	+	Missense_Mutation	SNP	C	C	T	rs139607358	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179730517C>T	uc002unf.1	-	7	1033	c.976G>A	c.(976-978)GCC>ACC	p.A326T		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	326	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTCATGGCGCAGTACTCC	0.532		NA											45	192					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802876	185802876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:185802876T>C	uc002uph.2	+	4	3347	c.2753T>C	c.(2752-2754)GTC>GCC	p.V918A		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACCACATCTGTCTGTGTAGCT	0.388		NA											11	64					0	0	0	0
CPS1	1373	broad.mit.edu	37	2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	rs147443001		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:211471538C>T	uc002vee.3	+	18	2197	c.2065C>T	c.(2065-2067)CGC>TGC	p.R689C	CPS1_uc010fur.2_Missense_Mutation_p.R695C|CPS1_uc010fus.2_Missense_Mutation_p.R238C	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAATGTTGTTCGCCACTTGGG	0.468		NA											10	48					0	0	0	0
PYGB	5834	broad.mit.edu	37	20	25262744	25262744	+	Silent	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:25262744G>T	uc002wup.2	+	12	1588	c.1479G>T	c.(1477-1479)CTG>CTT	p.L493L		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	493					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GCCGGTGGCTGCTGCTGTGCA	0.592		NA											11	22					9.77e-05	0.000104143	1	0
ZNFX1	57169	broad.mit.edu	37	20	47864939	47864939	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:47864939G>C	uc002xui.2	-	14	4869	c.4622C>G	c.(4621-4623)ACT>AGT	p.T1541S		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1541							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGCAGCTTAGTACAAGGCAC	0.572		NA											43	60					0	0	0	0
TH1L	51497	broad.mit.edu	37	20	57568743	57568743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:57568743C>T	uc002yag.2	+	13	1559	c.1532C>T	c.(1531-1533)CCT>CTT	p.P511L	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	511					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			TATGTACTTCCTGTTGTCAGT	0.483		NA											12	51					0	0	0	0
PRAME	23532	broad.mit.edu	37	22	22899234	22899234	+	Missense_Mutation	SNP	A	A	G	rs2266988	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:22899234A>G	uc002zwf.2	-	2	175	c.19T>C	c.(19-21)TGG>CGG	p.W7R	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_5'Flank|PRAME_uc010gtr.2_Missense_Mutation_p.W7R|PRAME_uc002zwg.2_Missense_Mutation_p.W7R|PRAME_uc002zwh.2_Missense_Mutation_p.W7R|PRAME_uc002zwi.2_Missense_Mutation_p.W7R|PRAME_uc002zwj.2_Missense_Mutation_p.W7R|PRAME_uc002zwk.2_Missense_Mutation_p.W7R|LOC648691_uc011ais.1_5'Flank	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	7					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.W7R(1)		central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTTCTTACCCACAAACGCCTT	0.562		NA											8	148					0	0	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059754	47059754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:47059754C>T	uc003bhx.2	+	6	658	c.619C>T	c.(619-621)CGG>TGG	p.R207W	GRAMD4_uc010had.2_Missense_Mutation_p.R146W	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	207					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATATGAGACGGCTCAGTGA	0.617		NA											9	34					0	0	0	0
BRPF1	7862	broad.mit.edu	37	3	9785382	9785382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:9785382G>A	uc003bse.2	+	8	2813	c.2414G>A	c.(2413-2415)CGC>CAC	p.R805H	BRPF1_uc003bsf.2_Missense_Mutation_p.R811H|BRPF1_uc003bsg.2_Missense_Mutation_p.R804H|BRPF1_uc011ati.1_Missense_Mutation_p.R805H	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	805	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					AGTGTGGGCCGCTCACGGCGT	0.592		NA											13	8					0	0	0	0
ABTB1	80325	broad.mit.edu	37	3	127394943	127394943	+	Missense_Mutation	SNP	C	C	G	rs75647091	by1000genomes	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:127394943C>G	uc003ejt.2	+	4	394	c.306C>G	c.(304-306)GAC>GAG	p.D102E	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.D77E|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	102						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						ATTACTATGACGACTTCTTGC	0.642		NA											31	18					0	0	0	0
SENP2	59343	broad.mit.edu	37	3	185347618	185347618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:185347618C>T	uc003fpn.2	+	17	1927	c.1756C>T	c.(1756-1758)CAG>TAG	p.Q586*	SENP2_uc011brv.1_Nonsense_Mutation_p.Q576*|SENP2_uc011brw.1_Nonsense_Mutation_p.Q399*	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	586					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AATCCTTCATCAGCAGTTGCT	0.468		NA											9	54					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:126411278C>T	uc003ifj.3	+	17	13301	c.13301C>T	c.(13300-13302)CCG>CTG	p.P4434L	FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4434	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCCTCCCACCCGTGCCAGAAT	0.607		NA											45	49					0	0	0	0
CDH9	1007	broad.mit.edu	37	5	26885757	26885757	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:26885757G>A	uc003jgs.1	-	11	2017	c.1848C>T	c.(1846-1848)CTC>CTT	p.L616L	CDH9_uc011cnv.1_Silent_p.L209L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	616	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GAATCGCAACGAGAGCTCCCG	0.512		NA											8	13					0	0	0	0
NNT	23530	broad.mit.edu	37	5	43616103	43616103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:43616103C>G	uc003joe.2	+	4	790	c.535C>G	c.(535-537)CAG>GAG	p.Q179E	NNT_uc003jof.2_Missense_Mutation_p.Q179E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	179	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCAATGGACCAGGTTCCAAG	0.423		NA											8	73					0	0	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140202723G>A	uc003lhl.2	+	1	1363	c.1363G>A	c.(1363-1365)GCG>ACG	p.A455T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	455	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677		NA											12	40					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263856	140263856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140263856C>T	uc003lif.2	+	1	2003	c.2003C>T	c.(2002-2004)TCG>TTG	p.S668L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S668L|PCDHA13_uc003lid.2_Missense_Mutation_p.S668L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	668	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTTGTCGCTGGTGGAG	0.672		NA											24	22					0	0	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730444	140730444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140730444G>A	uc003ljo.1	+	1	617	c.617G>A	c.(616-618)CGC>CAC	p.R206H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R206H	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	206	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTCATCGCTTAATCCTG	0.493		NA											20	24					0	0	0	0
GABRA1	2554	broad.mit.edu	37	5	161302579	161302579	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:161302579G>A	uc010jiw.2	+	7	958	c.490G>A	c.(490-492)GCT>ACT	p.A164T	GABRA1_uc010jix.2_Missense_Mutation_p.A164T|GABRA1_uc010jiy.2_Missense_Mutation_p.A164T|GABRA1_uc003lyx.3_Missense_Mutation_p.A164T|GABRA1_uc010jiz.2_Missense_Mutation_p.A164T|GABRA1_uc010jja.2_Missense_Mutation_p.A164T|GABRA1_uc010jjb.2_Missense_Mutation_p.A164T	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	164	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)	GACAGTGAGAGCTGAATGTCC	0.373		NA											20	50					0	0	0	0
FGFR4	2264	broad.mit.edu	37	5	176523713	176523713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176523713G>A	uc003mfl.2	+	16	2291	c.2124G>A	c.(2122-2124)ATG>ATA	p.M708I	FGFR4_uc003mfm.2_Missense_Mutation_p.M708I|FGFR4_uc011dfu.1_Missense_Mutation_p.M640I|FGFR4_uc003mfo.2_Missense_Mutation_p.M668I	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	708	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GACATCGGATGGACCGACCCC	0.657		NA								TSP Lung(9;0.080)			4	20					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176719035	176719035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176719035C>G	uc003mfr.3	+	22	6477	c.6339C>G	c.(6337-6339)ATC>ATG	p.I2113M	NSD1_uc003mft.3_Missense_Mutation_p.I1844M|NSD1_uc011dfx.1_Missense_Mutation_p.I1761M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2113					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)		AGGGTGAAATCACAAAGGAGC	0.483		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			6	8					0	0	0	0
BTNL8	79908	broad.mit.edu	37	5	180338567	180338567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:180338567G>A	uc003mmp.2	+	3	860	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	BTNL8_uc003mmq.2_Missense_Mutation_p.R209Q|BTNL8_uc011dhg.1_Missense_Mutation_p.R84Q|BTNL8_uc010jll.2_Missense_Mutation_p.R209Q|BTNL8_uc010jlm.2_Missense_Mutation_p.R93Q|BTNL8_uc011dhh.1_Missense_Mutation_p.R25Q	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	209	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCATGCGGCATGCTCAT	0.547		NA											23	27					0	0	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:100382357G>T	uc003pqh.1	-	5	939	c.624C>A	c.(622-624)TTC>TTA	p.F208L	MCHR2_uc003pqi.1_Missense_Mutation_p.F208L	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.284		NA											43	26					3.55e-21	4e-21	1	0
MYCT1	80177	broad.mit.edu	37	6	153019042	153019042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:153019042G>A	uc003qpd.3	+	1	13	c.5G>A	c.(4-6)CGA>CAA	p.R2Q	MYCT1_uc010kjc.1_Missense_Mutation_p.R2Q|MYCT1_uc003qpc.3_Missense_Mutation_p.R2Q	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	2						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTTTTATGCGAACACAAGTA	0.323		NA											28	11					0	0	0	0
RBAK	57786	broad.mit.edu	37	7	5097370	5097370	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:5097370G>A	uc010kss.1	+	5	522	c.198G>A	c.(196-198)CCG>CCA	p.P66P	LOC389458_uc003snr.2_Silent_p.P66P|RBAK_uc003sns.1_Silent_p.P66P	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	66	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGGAGCCGTGGATAATGG	0.453		NA											19	65					0	0	0	0
CHN2	1124	broad.mit.edu	37	7	29552210	29552210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:29552210G>A	uc003szz.2	+	13	1703	c.1266G>A	c.(1264-1266)ATG>ATA	p.M422I	CHN2_uc011jzs.1_Missense_Mutation_p.M497I|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.M387I|CHN2_uc011jzt.1_Missense_Mutation_p.M435I|CHN2_uc010kvd.2_Missense_Mutation_p.M278I|CHN2_uc011jzu.1_Missense_Mutation_p.M407I|CHN2_uc010kvg.2_Missense_Mutation_p.M240I|CHN2_uc010kvh.2_Missense_Mutation_p.M182I|CHN2_uc010kvi.2_Missense_Mutation_p.M214I|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.M286I|CHN2_uc010kvf.2_Missense_Mutation_p.M228I|CHN2_uc010kvj.2_Missense_Mutation_p.M195I|CHN2_uc010kvk.2_Missense_Mutation_p.M97I|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.M241I|CHN2_uc011jzv.1_Missense_Mutation_p.M215I	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						ACAATTTCATGAATGCAGAAA	0.423		NA											18	55					0	0	0	0
FGL2	10875	broad.mit.edu	37	7	76826174	76826174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:76826174C>T	uc003ugb.2	-	2	782	c.742G>A	c.(742-744)GGG>AGG	p.G248R	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	248	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						CAGCCTCCCCCCATGGTCTCC	0.493		NA											39	66					0	0	0	0
HYAL4	23553	broad.mit.edu	37	7	123516945	123516945	+	Silent	SNP	G	G	A	rs138391454	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:123516945G>A	uc003vlc.2	+	5	1820	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TGTGGAACGCGCCCAGTTACC	0.507		NA											27	28					0	0	0	0
OR6B1	135946	broad.mit.edu	37	7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:143701141C>T	uc003wdt.1	+	1	52	c.52C>T	c.(52-54)CCT>TCT	p.P18S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483		NA											14	25					0	0	0	0
ESRP1	54845	broad.mit.edu	37	8	95683890	95683890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:95683890G>C	uc003ygq.3	+	11	1626	c.1443G>C	c.(1441-1443)TTG>TTC	p.L481F	ESRP1_uc003ygr.3_Missense_Mutation_p.L481F|ESRP1_uc003ygs.3_Missense_Mutation_p.L481F|ESRP1_uc003ygt.3_Missense_Mutation_p.L481F|ESRP1_uc003ygu.3_Missense_Mutation_p.L481F|ESRP1_uc003ygv.2_Missense_Mutation_p.L321F|ESRP1_uc003ygw.2_Missense_Mutation_p.L321F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	481	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						ACATGGTTTTGAATCACCAGG	0.383		NA											5	23					0	0	0	0
DSCC1	79075	broad.mit.edu	37	8	120859281	120859281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:120859281C>T	uc003yov.2	-	4	661	c.526G>A	c.(526-528)GAG>AAG	p.E176K		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	176					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCCTCACTTGCCTGA	0.308		NA											22	47					0	0	0	0
KIAA1797	54914	broad.mit.edu	37	9	20981650	20981650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:20981650G>A	uc003zog.1	+	40	4966	c.4603G>A	c.(4603-4605)GGG>AGG	p.G1535R	KIAA1797_uc003zoh.1_Missense_Mutation_p.G971R	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1535						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGAAGCTACTGGGAAAATTTT	0.463		NA											18	31					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971000C>A	uc003zpk.2	-	2	570	c.358G>T	c.(358-360)GAG>TAG	p.E120*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	120	ANK 4.		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		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.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(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)		TGGCCCAGCTCCTCAGCCAGG	0.726		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)			15	30					3.46e-05	3.73e-05	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971028C>T	uc003zpk.2	-	2	542	c.330G>A	c.(328-330)TGG>TGA	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				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.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(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)		GCAGACGGCCCCAGGCATCGC	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)			10	32					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:113170491G>C	uc010mtz.2	-	38	7726	c.7389C>G	c.(7387-7389)CTC>CTG	p.L2463L	SVEP1_uc010mty.2_Silent_p.L389L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGCAGGTATAGAGAGCTGTGC	0.478		NA											9	24					0	0	0	0
KIF12	113220	broad.mit.edu	37	9	116859596	116859596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:116859596C>T	uc004bif.2	-	4	455	c.217G>A	c.(217-219)GAA>AAA	p.E73K	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	206	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TGCAAAAGTTCCATCAGGGCC	0.607		NA											3	21					0	0	0	0
OR1N1	138883	broad.mit.edu	37	9	125288840	125288840	+	Missense_Mutation	SNP	C	C	T	rs151154516	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:125288840C>T	uc004bmn.1	-	1	733	c.733G>A	c.(733-735)GTT>ATT	p.V245I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						ACACAAACAACGCAGAGGTGG	0.547		NA											6	31					0	0	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749038	139749038	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:139749038C>T	uc004cjs.2	+	8	894	c.844C>T	c.(844-846)CGC>TGC	p.R282C	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	282	MAM 2.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCATGGAACCGCTCGGAAGG	0.687		NA											5	11					0	0	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821173	5821173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:5821173C>T	uc010ndh.2	-	5	2047	c.1546G>A	c.(1546-1548)GAC>AAC	p.D516N	NLGN4X_uc004crp.2_Missense_Mutation_p.D536N|NLGN4X_uc004crq.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndi.2_Missense_Mutation_p.D553N|NLGN4X_uc004crr.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndj.2_Missense_Mutation_p.D516N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	516	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						AGCATGACGTCGTTCTTGGAA	0.537		NA											27	88					0	0	0	0
CASK	8573	broad.mit.edu	37	X	41401990	41401990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:41401990C>G	uc004dfl.3	-	22	2155	c.2109G>C	c.(2107-2109)AAG>AAC	p.K703N	CASK_uc004dfj.3_Missense_Mutation_p.K243N|CASK_uc004dfk.3_Missense_Mutation_p.K518N|CASK_uc004dfm.3_Missense_Mutation_p.K680N|CASK_uc004dfn.3_Missense_Mutation_p.K674N	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	703					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						GCTTCTTTTTCTTGCCAAACC	0.418		NA											9	69					0	0	0	0
USP11	8237	broad.mit.edu	37	X	47101692	47101692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47101692G>A	uc004dhp.2	+	10	1520	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	USP11_uc004dhq.2_Missense_Mutation_p.R234H	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	507					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GATCCGCGCCGCAAGCCAGAG	0.542		NA											6	22					0	0	0	0
ZNF81	347344	broad.mit.edu	37	X	47774432	47774432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47774432A>T	uc010nhy.1	+	6	755	c.387A>T	c.(385-387)TTA>TTT	p.L129F		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				ACTCTATTTTAGAAGAATTGT	0.353		NA											21	25					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54476096	54476096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:54476096G>A	uc004dtg.2	-	14	2878	c.2144C>T	c.(2143-2145)TCT>TTT	p.S715F	FGD1_uc011moi.1_Missense_Mutation_p.S473F	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	715					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TCTTACTGGAGAGTTGGGTGG	0.532		NA											11	126					0	0	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524500	73524500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:73524500C>A	uc004ebs.3	+	1	476	c.399C>A	c.(397-399)TGC>TGA	p.C133*		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133	CCHC-type 6.						nucleic acid binding|zinc ion binding				0						GTTACCGATGCGGCGAGATTG	0.552		NA											13	28					0.00136819	0.00142594	1	0
ATP7A	538	broad.mit.edu	37	X	77267139	77267139	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:77267139T>G	uc004ecx.3	+	9	2300	c.2140T>G	c.(2140-2142)TTG>GTG	p.L714V	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	714	Extracellular (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TGTTATGAATTTGCTGTCCTT	0.333		NA											97	184					0	0	0	0
TBX22	50945	broad.mit.edu	37	X	79281158	79281158	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:79281158T>A	uc010nmg.1	+	5	649	c.515T>A	c.(514-516)ATC>AAC	p.I172N	TBX22_uc004edi.1_Missense_Mutation_p.I52N|TBX22_uc004edj.1_Missense_Mutation_p.I172N	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	172	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CATTTGTGCATCATTCCTAGA	0.498		NA											17	62					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131788	91131788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:91131788C>A	uc004efk.1	+	2	1394	c.549C>A	c.(547-549)AAC>AAA	p.N183K	PCDH11X_uc004efl.1_Missense_Mutation_p.N183K|PCDH11X_uc004efo.1_Missense_Mutation_p.N183K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N183K|PCDH11X_uc004efm.1_Missense_Mutation_p.N183K|PCDH11X_uc004efn.1_Missense_Mutation_p.N183K|PCDH11X_uc004efh.1_Missense_Mutation_p.N183K|PCDH11X_uc004efj.1_Missense_Mutation_p.N183K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	183	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AGAGTCAAAACATTTTTGGCC	0.284		NA											20	48					2.4e-15	2.68e-15	1	0
TCEAL6	158931	broad.mit.edu	37	X	101396190	101396190	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:101396190C>T	uc004eiq.2	-	3	275	c.114G>A	c.(112-114)GCG>GCA	p.A38A		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A38T(1)		ovary(1)	1						tcttcccctccgcgtctggct	0.144		NA											11	53					0	0	0	0
OCRL	4952	broad.mit.edu	37	X	128696645	128696645	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:128696645C>G	uc004euq.2	+	12	1291	c.1126C>G	c.(1126-1128)CTG>GTG	p.L376V	OCRL_uc004eur.2_Missense_Mutation_p.L376V	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	376					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						CAATTCCCATCTGGCTGCACA	0.428		NA											21	96					0	0	0	0
BCORL1	63035	broad.mit.edu	37	X	129159271	129159271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:129159271G>A	uc004evb.1	+	7	4109	c.3995G>A	c.(3994-3996)CGA>CAA	p.R1332Q	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.R94Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1332	Nuclear localization signal (Potential).				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						AGGAAGAAACGAAGACGGCAG	0.498		NA											42	39					0	0	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:144337190G>A	uc004fcb.2	+	2	76	c.76_splice	c.e2-1	p.M26_splice		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein												0	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443		NA											16	69					0	0	0	0
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:109479802_109479803delTC	uc001dwe.1	-	10	1371_1372	c.1279_1280delGA	c.(1279-1281)GATfs	p.D427fs	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	427						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.52		NA											21	55	---	---	---	---	NA	NA	NA	NA
C12orf63	374467	broad.mit.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97043730_97043733delACAA	uc001tet.1	+	2	105_108	c.27_30delACAA	c.(25-30)ACACAAfs	p.T9fs		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	9_10										skin(6)|ovary(1)	7						TGTCCAAGACACAAACAGTTTATG	0.299		NA											27	41	---	---	---	---	NA	NA	NA	NA
JUB	84962	broad.mit.edu	37	14	23447637	23447651	+	In_Frame_Del	DEL	TGCACTTGATACAGG	TGCACTTGATACAGG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:23447637_23447651delTGCACTTGATACAGG	uc001whz.2	-	2	1386_1400	c.1010_1024delCCTGTATCAAGTGCA	c.(1009-1026)ACCTGTATCAAGTGCAAC>AAC	p.TCIKC337del	JUB_uc001why.2_5'Flank	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	337_341	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA	0.54		NA											42	63	---	---	---	---	NA	NA	NA	NA
IMP3	55272	broad.mit.edu	37	15	75932053	75932054	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:75932053_75932054insGC	uc002bat.2	-	2	1400_1401	c.456_457insGC	c.(454-459)CGCAGCfs	p.R152fs	IMP3_uc010bkl.1_Frame_Shift_Ins_p.R152fs	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	152_153	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding				0						TCCTCCATGCTGCGCGTGACAA	0.609		NA											37	106	---	---	---	---	NA	NA	NA	NA
PHF23	79142	broad.mit.edu	37	17	7139476	7139484	+	In_Frame_Del	DEL	TCCTCTTCC	TCCTCTTCC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7139476_7139484delTCCTCTTCC	uc002gfa.2	-	4	989_997	c.762_770delGGAAGAGGA	c.(760-771)GAGGAAGAGGAA>GAA	p.254_257EEEE>E	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_In_Frame_Del_p.187_190EEEE>E|PHF23_uc010cma.2_In_Frame_Del_p.124_127EEEE>E	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	254_257	Poly-Glu.						zinc ion binding				0						ttcttcttcttcctcttcctcctcttcct	0.502		NA											8	131	---	---	---	---	NA	NA	NA	NA
RBM5	10181	broad.mit.edu	37	3	50144226	50144227	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:50144226_50144227delAC	uc003cyg.2	+	11	1030_1031	c.882_883delAC	c.(880-885)TTACAGfs	p.L294fs	RBM5_uc011bdj.1_Frame_Shift_Del_p.L238fs|RBM5_uc011bdk.1_Frame_Shift_Del_p.L122fs	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	294_295	RRM 2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGATATTACAGAGTCTCCA	0.396		NA											24	31	---	---	---	---	NA	NA	NA	NA
TP63	8626	broad.mit.edu	37	3	189526228	189526229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:189526228_189526229insA	uc003fry.2	+	4	581_582	c.492_493insA	c.(490-495)GCCATCfs	p.A164fs	TP63_uc003frx.2_Frame_Shift_Ins_p.A164fs|TP63_uc003frz.2_Frame_Shift_Ins_p.A164fs|TP63_uc010hzc.1_Frame_Shift_Ins_p.A164fs|TP63_uc003fsa.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsb.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsc.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsd.2_Frame_Shift_Ins_p.A70fs|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Frame_Shift_Ins_p.A45fs	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	164_165					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCACCCGCCATCCCCTCCAA	0.644		NA							Hay-Wells_syndrome	HNSCC(45;0.13)			26	56	---	---	---	---	NA	NA	NA	NA
RGAG1	57529	broad.mit.edu	37	X	109694331	109694332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:109694331_109694332delAG	uc004eor.1	+	3	732_733	c.486_487delAG	c.(484-489)GCAGAGfs	p.A162fs	RGAG1_uc011msr.1_Frame_Shift_Del_p.A162fs	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	162_163										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAGATTCTGCAGAGATATCACC	0.48		NA											16	111	---	---	---	---	NA	NA	NA	NA
