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
MMEL1	79258	broad.mit.edu	37	1	2540804	2540804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:2540804G>A	uc001ajy.2	-	6	723	c.509C>T	c.(508-510)ACG>ATG	p.T170M	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	170	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGGTACAGCGTCCTGGCCTT	0.687		NA											6	5					0	0	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724486	7724486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:7724486G>T	uc001aoi.2	+	9	2086	c.1879G>T	c.(1879-1881)GTC>TTC	p.V627F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCTCCCCGTCGAGCAGAA	0.652		NA											79	81					2.27e-54	3.15e-54	1	0
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:11918291G>A	uc001atj.2	-	2	470	c.368C>T	c.(367-369)TCC>TTC	p.S123F		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602		NA											23	32					0	0	0	0
EPHA2	1969	broad.mit.edu	37	1	16477390	16477390	+	Splice_Site	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:16477390C>G	uc001aya.1	-	2	290	c.153_splice	c.e2+1	p.G51_splice	EPHA2_uc010oca.1_Splice_Site_p.G51_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCTTACATACCCCTTTGCCA	0.453		NA											37	74					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27100151	27100151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:27100151C>A	uc001bmv.1	+	16	4320	c.3947C>A	c.(3946-3948)TCG>TAG	p.S1316*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.S1315*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S1316*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S933*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S162*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTAT	0.507		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								41	38					9.39e-22	1.27e-21	1	0
RLF	6018	broad.mit.edu	37	1	40705888	40705888	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:40705888G>C	uc001cfc.3	+	8	5545	c.5514G>C	c.(5512-5514)GAG>GAC	p.E1838D	RLF_uc001cfd.3_Missense_Mutation_p.E1529D	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1838					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATTCATGAGAACCTGACTG	0.398		NA											15	85					0	0	0	0
RIMS3	9783	broad.mit.edu	37	1	41101587	41101587	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:41101587C>A	uc001cfu.1	-	4	828	c.359_splice	c.e4+1	p.T120_splice	RIMS3_uc001cfv.1_Splice_Site_p.T120_splice	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3						neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGCACGCACGTGCCGTCGG	0.667		NA											14	55					1.15e-07	1.36e-07	1	0
EIF2B3	8891	broad.mit.edu	37	1	45444037	45444037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:45444037C>T	uc001cmt.1	-	3	371	c.244G>A	c.(244-246)GCT>ACT	p.A82T	EIF2B3_uc001cmu.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmv.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmw.2_Missense_Mutation_p.A82T	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	82					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCCATGTCAGCGTCATCAGGA	0.363		NA											62	106					0	0	0	0
WDR78	79819	broad.mit.edu	37	1	67292591	67292591	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:67292591A>C	uc001dcx.2	-	15	2307	c.2251T>G	c.(2251-2253)TAC>GAC	p.Y751D	WDR78_uc009waw.2_Missense_Mutation_p.Y464D|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	751	WD 5.									ovary(2)	2						GCAACGTCGTAAACAACAGAA	0.398		NA											21	94					0	0	0	0
PIGK	10026	broad.mit.edu	37	1	77627356	77627356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:77627356C>A	uc001dhk.2	-	7	670	c.625G>T	c.(625-627)GCA>TCA	p.A209S	PIGK_uc010orj.1_Missense_Mutation_p.A133S|PIGK_uc009wbx.2_Missense_Mutation_p.A115S|PIGK_uc001dhl.1_Missense_Mutation_p.A209S	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	209	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TACATGGATGCTCCTTGGCAA	0.358		NA											35	59					1.36e-19	1.82e-19	1	0
COL11A1	1301	broad.mit.edu	37	1	103405901	103405901	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:103405901A>T	uc001dul.2	-	43	3684	c.3366T>A	c.(3364-3366)CCT>CCA	p.P1122P	COL11A1_uc001duk.2_Silent_p.P318P|COL11A1_uc001dum.2_Silent_p.P1134P|COL11A1_uc001dun.2_Silent_p.P1083P|COL11A1_uc009weh.2_Silent_p.P1006P	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1122	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTCTTCCCCAGGGGAGCCGG	0.463		NA											25	39					0	0	0	0
GJA8	2703	broad.mit.edu	37	1	147380527	147380527	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:147380527A>T	uc001epu.1	+	2	508	c.445A>T	c.(445-447)AGG>TGG	p.R149W		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	149	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GACCCTGCTGAGGACCTACAT	0.607		NA											20	115					0	0	0	0
FMO4	2329	broad.mit.edu	37	1	171310604	171310604	+	Missense_Mutation	SNP	G	G	T	rs67000791		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:171310604G>T	uc001gho.2	+	10	1520	c.1303G>T	c.(1303-1305)GAT>TAT	p.D435Y		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	435					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCCTACATGGATGATATCGC	0.473		NA											18	34					1.45e-14	1.89e-14	1	0
QSOX1	5768	broad.mit.edu	37	1	180159622	180159622	+	Missense_Mutation	SNP	C	C	T	rs143670617	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:180159622C>T	uc001gnz.2	+	10	1270	c.1195C>T	c.(1195-1197)CAT>TAT	p.H399Y	QSOX1_uc001gny.2_Missense_Mutation_p.H399Y|QSOX1_uc001goa.2_Missense_Mutation_p.H399Y	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	399	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GAGTGAGCCGCATTTCCGGGG	0.557		NA											50	121					0	0	0	0
RGL1	23179	broad.mit.edu	37	1	183876207	183876207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:183876207C>T	uc001gqo.2	+	14	1691	c.1534C>T	c.(1534-1536)CGG>TGG	p.R512W	RGL1_uc010pof.1_Missense_Mutation_p.R317W|RGL1_uc001gqm.2_Missense_Mutation_p.R547W|RGL1_uc010pog.1_Missense_Mutation_p.R510W|RGL1_uc010poh.1_Missense_Mutation_p.R510W|RGL1_uc010poi.1_Missense_Mutation_p.R483W	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	512					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						GCCCAAGCCTCGGAAGAGCAT	0.557		NA											7	8					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197091420	197091420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:197091420C>G	uc001gtu.2	-	15	3867	c.3610G>C	c.(3610-3612)GAG>CAG	p.E1204Q	ASPM_uc001gtv.2_Missense_Mutation_p.E1204Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1204	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGTATAGCTCTGAAGTATTT	0.363		NA											18	45					0	0	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425081	204425081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:204425081G>A	uc001haw.2	-	12	2325	c.1846C>T	c.(1846-1848)CGC>TGC	p.R616C	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R616C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R616C|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCATGCTTGCGGCTCCCGGGC	0.612		NA											39	64					0	0	0	0
KCTD3	51133	broad.mit.edu	37	1	215752341	215752341	+	Splice_Site	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:215752341A>G	uc001hks.2	+	7	692	c.398_splice	c.e7-2	p.G133_splice	KCTD3_uc001hkt.2_Splice_Site_p.G133_splice|KCTD3_uc010pub.1_Splice_Site_p.G31_splice|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCTCTTTATAGGTATTCCTA	0.333		NA											4	28					0	0	0	0
EGLN1	54583	broad.mit.edu	37	1	231556851	231556851	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:231556851T>G	uc001huv.2	-	1	3940	c.784A>C	c.(784-786)AAG>CAG	p.K262Q	EGLN1_uc001huu.3_5'Flank	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	262					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCGGGCTCCTTGCCCTCGATC	0.592		NA											58	66					0	0	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:234367481G>A	uc001hwa.1	+	2	623	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	SLC35F3_uc001hvy.1_Missense_Mutation_p.R201Q	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597		NA											23	138					0	0	0	0
TRIM58	25893	broad.mit.edu	37	1	248028155	248028155	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248028155T>A	uc001ido.2	+	3	713	c.665T>A	c.(664-666)CTG>CAG	p.L222Q		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	222	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692		NA											7	22					0	0	0	0
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	rs139271211		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248059405G>A	uc001idp.1	+	3	786	c.517G>A	c.(517-519)GAG>AAG	p.E173K	OR2W3_uc010pzb.1_Missense_Mutation_p.E173K	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657		NA											41	76					0	0	0	0
C10orf18	54906	broad.mit.edu	37	10	5789010	5789010	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5789010C>G	uc001iij.2	+	15	4251	c.3626C>G	c.(3625-3627)TCA>TGA	p.S1209*	C10orf18_uc001iik.2_Nonsense_Mutation_p.S53*	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1209										ovary(1)|central_nervous_system(1)	2						GTGGACTCATCATCAGCCTCT	0.473		NA											19	69					0	0	0	0
C10orf18	54906	broad.mit.edu	37	10	5790610	5790610	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5790610G>A	uc001iij.2	+	15	5851	c.5226G>A	c.(5224-5226)AAG>AAA	p.K1742K	C10orf18_uc001iik.2_Silent_p.K586K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1742										ovary(1)|central_nervous_system(1)	2						GTGAAACAAAGGAGCTATTGA	0.498		NA											13	40					0	0	0	0
FBXO18	84893	broad.mit.edu	37	10	5953002	5953002	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5953002G>T	uc001iis.2	+	6	1217	c.1122G>T	c.(1120-1122)ACG>ACT	p.T374T	FBXO18_uc001iir.2_Silent_p.T300T|FBXO18_uc009xig.2_Silent_p.T300T|FBXO18_uc001iit.2_Silent_p.T425T	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	374					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CCAGCTCCACGGTGACCATGC	0.582		NA											17	96					1.34e-09	1.64e-09	1	0
PARD3	56288	broad.mit.edu	37	10	34690830	34690830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:34690830C>T	uc010qej.1	-	6	730	c.730G>A	c.(730-732)GAA>AAA	p.E244K	PARD3_uc010qek.1_Missense_Mutation_p.E244K|PARD3_uc010qel.1_Missense_Mutation_p.E244K|PARD3_uc010qem.1_Missense_Mutation_p.E244K|PARD3_uc010qen.1_Missense_Mutation_p.E244K|PARD3_uc010qeo.1_Missense_Mutation_p.E244K|PARD3_uc010qep.1_Missense_Mutation_p.E200K|PARD3_uc010qeq.1_Missense_Mutation_p.E200K|PARD3_uc001ixo.1_5'UTR|PARD3_uc001ixp.1_Missense_Mutation_p.E109K|PARD3_uc001ixq.1_Missense_Mutation_p.E244K|PARD3_uc001ixr.1_Missense_Mutation_p.E244K|PARD3_uc001ixt.1_Missense_Mutation_p.E65K|PARD3_uc001ixu.1_Missense_Mutation_p.E200K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TTATCCTCTTCTGTCCCATCC	0.428		NA											58	119					0	0	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419231	37419231	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37419231T>G	uc001iza.1	+	3	366	c.267T>G	c.(265-267)TAT>TAG	p.Y89*		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	145	ANK 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CTCTCCATTATGCTGTTTATA	0.433		NA											16	32					0	0	0	0
AGAP4	119016	broad.mit.edu	37	10	46322017	46322017	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:46322017C>T	uc001jcx.3	-	7	1464	c.1338G>A	c.(1336-1338)TCG>TCA	p.S446S	AGAP4_uc010qfl.1_Silent_p.S469S|AGAP4_uc001jcy.3_Silent_p.S361S|uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	446	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1						TGTTTTGGATCGACTGCAGGG	0.552		NA											63	48					0	0	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820232	50820232	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:50820232C>T	uc001jhw.2	+	1	1886	c.1446C>T	c.(1444-1446)CGC>CGT	p.R482R	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	482	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GTTCCGAGCGCGATGTGCTGC	0.667		NA											40	42					0	0	0	0
ABCC2	1244	broad.mit.edu	37	10	101591889	101591889	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:101591889G>A	uc001kqf.2	+	23	3397	c.3258_splice	c.e23+1	p.G1086_splice		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTGCCGGCGTAAGTATCTC	0.433		NA											10	63					0	0	0	0
GFRA1	2674	broad.mit.edu	37	10	118029071	118029071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:118029071T>A	uc001lcj.2	-	4	1060	c.362A>T	c.(361-363)TAT>TTT	p.Y121F	GFRA1_uc001lci.2_Missense_Mutation_p.Y121F|GFRA1_uc009xyr.2_Missense_Mutation_p.Y121F	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	121					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTGGTTCATATGGGGAATC	0.403		NA											8	49					0	0	0	0
DOCK1	1793	broad.mit.edu	37	10	129183096	129183096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:129183096G>C	uc001ljt.2	+	38	3851	c.3787G>C	c.(3787-3789)GGG>CGG	p.G1263R	DOCK1_uc010qun.1_Missense_Mutation_p.G1284R|DOCK1_uc009yaq.2_Missense_Mutation_p.G258R	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1263	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGCGGGACGGGTACCAGGC	0.562		NA											13	71					0	0	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537198	5537198	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5537198T>A	uc001maz.3	-	1	759	c.474A>T	c.(472-474)AAA>AAT	p.K158N	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGTATGCACTTTGGGTGCAT	0.507		NA											28	49					0	0	0	0
OR52N4	390072	broad.mit.edu	37	11	5776293	5776293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5776293C>G	uc001mbu.2	+	1	371	c.323C>G	c.(322-324)ACC>AGC	p.T108S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCACCCACACCTTCACAGGG	0.483		NA											18	72					0	0	0	0
OR52N5	390075	broad.mit.edu	37	11	5799295	5799295	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5799295G>A	uc010qzn.1	-	1	570	c.570C>T	c.(568-570)CAC>CAT	p.H190H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTACAGACATGTGGTCGCAGT	0.423		NA											4	65					0	0	0	0
ST5	6764	broad.mit.edu	37	11	8737365	8737365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:8737365G>C	uc001mgt.2	-	6	1816	c.1630C>G	c.(1630-1632)CTT>GTT	p.L544V	ST5_uc009yfr.2_Missense_Mutation_p.L124V|ST5_uc001mgu.2_Missense_Mutation_p.L124V|ST5_uc001mgv.2_Missense_Mutation_p.L544V|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.L57V	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	544					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCAGGGAAAGCTGGCGTGGG	0.632		NA											18	42					0	0	0	0
IPO7	10527	broad.mit.edu	37	11	9459832	9459832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:9459832G>A	uc001mho.2	+	22	2837	c.2695G>A	c.(2695-2697)GAG>AAG	p.E899K		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	899	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		tgatgaAACCGGTAAGGGATT	0.234		NA											32	33					0	0	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673889	20673889	+	Missense_Mutation	SNP	C	C	T	rs151244472	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:20673889C>T	uc001mqd.2	+	15	2398	c.2125C>T	c.(2125-2127)CGC>TGC	p.R709C	SLC6A5_uc009yic.2_Missense_Mutation_p.R474C	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	709					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	TGGCTCTTACCGCTATCCTAA	0.488		NA											18	107					0	0	0	0
DCDC1	341019	broad.mit.edu	37	11	31327197	31327197	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:31327197C>A	uc001msv.2	-	6	921	c.719G>T	c.(718-720)GGA>GTA	p.G240V	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	240	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					AAAGGGCTCTCCCGTTGAAAC	0.413		NA											31	69					6.06e-23	8.21e-23	1	0
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:55681277C>T	uc010rir.1	-	1	782	c.782G>A	c.(781-783)CGG>CAG	p.R261Q		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(1)		ovary(1)|skin(1)	2						AGAACTTGGCCGGAAATACAT	0.443		NA											6	69					0	0	0	0
OR5B3	441608	broad.mit.edu	37	11	58170004	58170004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:58170004C>G	uc010rkf.1	-	1	879	c.879G>C	c.(877-879)AAG>AAC	p.K293N		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCACTTCCTTGTTCCTCA	0.438		NA											6	94					0	0	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699222	60699222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:60699222G>T	uc001nqj.2	+	6	1271	c.1078G>T	c.(1078-1080)GGC>TGC	p.G360C	TMEM132A_uc001nqi.2_Missense_Mutation_p.G361C|TMEM132A_uc001nqk.2_Missense_Mutation_p.G373C|TMEM132A_uc001nql.1_Missense_Mutation_p.G373C|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	360	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CACTGGTGGGGGCGTAGCGGT	0.567		NA											27	131					1.69e-08	2.02e-08	1	0
AHNAK	79026	broad.mit.edu	37	11	62289123	62289123	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:62289123T>C	uc001ntl.2	-	5	13066	c.12766A>G	c.(12766-12768)AAG>GAG	p.K4256E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4256					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTG	0.478		NA											61	327					0	0	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675796	68675796	+	Missense_Mutation	SNP	G	G	A	rs138448914	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:68675796G>A	uc001ook.1	+	3	542	c.440G>A	c.(439-441)CGA>CAA	p.R147Q	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	147					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTACAGGCGACTGAAAAAG	0.453		NA											44	57					0	0	0	0
PAAF1	80227	broad.mit.edu	37	11	73620473	73620473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:73620473G>A	uc001ouk.1	+	7	596	c.562G>A	c.(562-564)GGG>AGG	p.G188R	PAAF1_uc001oul.1_Missense_Mutation_p.G171R|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.G171R	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	188	WD 3.				interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					CGTTGATCGGGGGAGGAATGT	0.507		NA											12	85					0	0	0	0
MMP13	4322	broad.mit.edu	37	11	102825316	102825316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:102825316C>G	uc001phl.2	-	3	410	c.382G>C	c.(382-384)GAT>CAT	p.D128H		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	128					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGAGTCATATCAGGGGTGTAA	0.348		NA											12	79					0	0	0	0
C11orf52	91894	broad.mit.edu	37	11	111796827	111796827	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:111796827G>T	uc001pmh.2	+	5	759	c.276G>T	c.(274-276)GTG>GTT	p.V92V	C11orf52_uc001pmi.2_Silent_p.V92V	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	92										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CCCGGGAAGTGAAACACGTGC	0.552		NA											7	49					8.13e-05	8.88e-05	1	0
NCAM1	4684	broad.mit.edu	37	11	113105876	113105876	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:113105876G>A	uc009yyq.1	+	15	2233	c.1539G>A	c.(1537-1539)ACG>ACA	p.T513T		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	605	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGTTCAAGACGCAGCCAGTCC	0.622		NA											5	17					0	0	0	0
TECTA	7007	broad.mit.edu	37	11	120984288	120984288	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:120984288C>T	uc010rzo.1	+	5	651	c.651C>T	c.(649-651)ACC>ACT	p.T217T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	217	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACCTCACCAATTTCTTCA	0.468		NA											10	53					0	0	0	0
OR8G2	26492	broad.mit.edu	37	11	124096236	124096236	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:124096236C>A	uc010saf.1	+	1	839	c.839C>A	c.(838-840)TCC>TAC	p.S280Y		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	280						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCTGTCAGCTCCATGGACCAG	0.478		NA											22	100					1.64e-13	2.12e-13	1	0
ITPR2	3709	broad.mit.edu	37	12	26818845	26818845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:26818845G>A	uc001rhg.2	-	14	1966	c.1549C>T	c.(1549-1551)CAG>TAG	p.Q517*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	517	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AAATTCACCTGTGCCAGTATG	0.303		NA											21	50					0	0	0	0
C12orf40	283461	broad.mit.edu	37	12	40076610	40076610	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:40076610A>C	uc001rmc.2	+	8	1051	c.884A>C	c.(883-885)AAT>ACT	p.N295T	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	295										ovary(6)	6						CTATCAGAGAATTGTGACTCT	0.318		NA											34	81					0	0	0	0
ESPL1	9700	broad.mit.edu	37	12	53676136	53676136	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:53676136A>T	uc001sck.2	+	14	2799	c.2708A>T	c.(2707-2709)CAG>CTG	p.Q903L	ESPL1_uc001scj.2_Missense_Mutation_p.Q578L|ESPL1_uc010soe.1_Missense_Mutation_p.Q114L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	903					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CTGCGTGTCCAGGTCCTGCAG	0.577		NA											43	90					0	0	0	0
OR10A7	121364	broad.mit.edu	37	12	55615024	55615024	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:55615024T>C	uc010spf.1	+	1	216	c.216T>C	c.(214-216)TGT>TGC	p.C72C		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						TTGAAGTATGTTTCACCTTGG	0.408		NA											50	171					0	0	0	0
PTPRB	5787	broad.mit.edu	37	12	70954538	70954538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:70954538C>T	uc001swb.3	-	15	3721	c.3691G>A	c.(3691-3693)GGC>AGC	p.G1231S	PTPRB_uc010sto.1_Missense_Mutation_p.G1141S|PTPRB_uc010stp.1_Missense_Mutation_p.G1141S|PTPRB_uc001swc.3_Missense_Mutation_p.G1449S|PTPRB_uc001swa.3_Missense_Mutation_p.G1361S|PTPRB_uc001swd.3_Missense_Mutation_p.G1448S|PTPRB_uc009zrr.1_Missense_Mutation_p.G1328S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1231	Fibronectin type-III 14.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAACAAGGCCTTGAAACCGC	0.493		NA											15	47					0	0	0	0
LIN7A	8825	broad.mit.edu	37	12	81331469	81331469	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:81331469C>A	uc001szj.1	-	1	226	c.33G>T	c.(31-33)ACG>ACT	p.T11T	LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CCATGTCTGCCGTGGGAGCCG	0.498		NA											6	13					0.00198382	0.00207118	1	0
EEA1	8411	broad.mit.edu	37	12	93221688	93221688	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:93221688C>A	uc001tck.2	-	12	1669	c.1404G>T	c.(1402-1404)CAG>CAT	p.Q468H		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	468	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GCTAGCTTACCTGCTCTTCTA	0.348		NA											43	129					1.01e-15	1.32e-15	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441774	100441774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:100441774C>A	uc001tgq.2	-	18	4148	c.3919G>T	c.(3919-3921)GCA>TCA	p.A1307S	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A957S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1307										ovary(2)	2						ATTACTGTTGCAACAGTTTCA	0.269		NA											11	15					1.59e-06	1.82e-06	1	0
TDG	6996	broad.mit.edu	37	12	104373699	104373699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:104373699G>T	uc001tkg.2	+	3	480	c.257G>T	c.(256-258)GGC>GTC	p.G86V	TDG_uc010swh.1_Missense_Mutation_p.G86V|TDG_uc009zuk.2_Missense_Mutation_p.G82V|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	86					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAATCTGGCAAGTCTGCA	0.338		NA						BER_DNA_glycosylases					14	79					1.52e-12	1.94e-12	1	0
TCTN1	79600	broad.mit.edu	37	12	111078896	111078896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:111078896G>T	uc009zvs.2	+	9	1154	c.1046G>T	c.(1045-1047)GGG>GTG	p.G349V	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.G289V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.G335V|TCTN1_uc001trn.3_Missense_Mutation_p.G349V|TCTN1_uc001trj.1_Missense_Mutation_p.G293V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	349					multicellular organismal development	extracellular region					0						TTCGTTCTGGGGACAGTTAGC	0.393		NA											47	101					2.53e-16	3.33e-16	1	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:117013751C>T	uc009zwk.1	+	2	158	c.4C>T	c.(4-6)CCG>TCG	p.P2S		NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule					0						CCACACCATGCCGTCGGAGAA	0.617		NA											33	29					0	0	0	0
PDX1	3651	broad.mit.edu	37	13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:28498541G>C	uc001urt.2	+	2	663	c.555G>C	c.(553-555)TTG>TTC	p.L185F	uc001urs.1_5'Flank	NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	185	Homeobox.				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587		NA											5	71					0	0	0	0
LHFP	10186	broad.mit.edu	37	13	39952615	39952615	+	Missense_Mutation	SNP	C	C	T	rs142526688	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:39952615C>T	uc001uxf.2	-	3	945	c.434G>A	c.(433-435)AGT>AAT	p.S145N		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	145						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTTCCTCACTGTCCCAGCC	0.502		NA	T	HMGA2	lipoma								10	47					0	0	0	0
FAM155A	728215	broad.mit.edu	37	13	108518775	108518775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:108518775C>A	uc001vql.2	-	1	686	c.170G>T	c.(169-171)TGG>TTG	p.W57L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	57	Helical; (Potential).					integral to membrane	binding			skin(1)	1						GGCGCAGAACCACAAGTGATC	0.398		NA											75	74					1.23e-19	1.65e-19	1	0
COL4A1	1282	broad.mit.edu	37	13	110833680	110833680	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:110833680A>G	uc001vqw.3	-	29	2274	c.2152T>C	c.(2152-2154)TTT>CTT	p.F718L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	718	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCATTAAATCCCGGGCGA	0.502		NA											7	45					0	0	0	0
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:20296501G>T	uc010tkv.1	+	1	894	c.894G>T	c.(892-894)ATG>ATT	p.M298I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353		NA											14	28					1.58e-08	1.9e-08	1	0
LRFN5	145581	broad.mit.edu	37	14	42361015	42361015	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:42361015A>G	uc001wvm.2	+	4	3146	c.1948A>G	c.(1948-1950)AAG>GAG	p.K650E	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	650	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTGGCACAAAGCCAAGTAC	0.478		NA								HNSCC(30;0.082)			12	26					0	0	0	0
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:59112625C>A	uc001xdw.2	+	4	1448	c.1284C>A	c.(1282-1284)GCC>GCA	p.A428A	DACT1_uc010trv.1_Silent_p.A147A|DACT1_uc001xdx.2_Silent_p.A391A|DACT1_uc010trw.1_Silent_p.A147A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCGAACAAGCCGAAAGCAAGA	0.597		NA											7	46					5.18e-06	5.84e-06	1	0
JDP2	122953	broad.mit.edu	37	14	75936093	75936093	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:75936093G>A	uc010asj.2	+	4	474	c.407G>A	c.(406-408)CGC>CAC	p.R136H	JDP2_uc010tvb.1_Missense_Mutation_p.R136H|JDP2_uc010tvc.1_Missense_Mutation_p.R136H|JDP2_uc001xrq.2_Missense_Mutation_p.R147H	NM_001135047	NP_001128519	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2 isoform a	136						nucleus	sequence-specific DNA binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AACCGACACCGCCCCACCTGC	0.587		NA											17	40					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94088414	94088414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:94088414C>G	uc001ybv.1	+	28	4453	c.4370C>G	c.(4369-4371)TCA>TGA	p.S1457*	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.S1435*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1612						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GATCTATCCTCAGATTCAACC	0.468		NA											36	97					0	0	0	0
C14orf49	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	T	rs143391386		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:95922000G>T	uc001yei.3	-	5	866	c.851C>A	c.(850-852)GCG>GAG	p.A284E	C14orf49_uc010avi.2_Missense_Mutation_p.A284E|C14orf49_uc001yej.1_Missense_Mutation_p.A284E	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	284	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567		NA											20	181					3.88e-16	5.08e-16	1	0
SNRPN	6638	broad.mit.edu	37	15	25221556	25221556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:25221556C>T	uc001ywp.1	+	9	1150	c.260C>T	c.(259-261)CCC>CTC	p.P87L	SNRPN_uc001ywq.1_Missense_Mutation_p.P87L|SNRPN_uc001ywr.1_Missense_Mutation_p.P87L|SNRPN_uc001yws.1_Missense_Mutation_p.P87L|SNRPN_uc001ywt.1_Missense_Mutation_p.P87L|SNRPN_uc001ywv.1_Missense_Mutation_p.P90L|SNRPN_uc001yww.1_Missense_Mutation_p.P87L|SNRPN_uc001ywx.1_Missense_Mutation_p.P87L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCCACCCCCCAAAGATGTA	0.488		NA							Prader-Willi_syndrome				12	51					0	0	0	0
WDR72	256764	broad.mit.edu	37	15	54003099	54003099	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:54003099G>T	uc002acj.2	-	9	951	c.909C>A	c.(907-909)ACC>ACA	p.T303T	WDR72_uc010bfi.1_Silent_p.T303T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	303										lung(1)|skin(1)	2				all cancers(107;0.0511)		GAGGATAAATGGTCTCTTTAA	0.383		NA											9	49					3.07e-06	3.48e-06	1	0
CILP	8483	broad.mit.edu	37	15	65490300	65490300	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65490300A>G	uc002aon.2	-	9	2505	c.2324T>C	c.(2323-2325)ATC>ACC	p.I775T		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	775					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						AATCACGGAGATCACAACCCC	0.562		NA											54	87					0	0	0	0
DENND4A	10260	broad.mit.edu	37	15	65959832	65959832	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65959832T>C	uc002aph.2	-	28	5442	c.5064A>G	c.(5062-5064)TTA>TTG	p.L1688L	DENND4A_uc002api.2_Silent_p.L1731L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCAATCCAGGTAAGTTACTGG	0.368		NA											9	47					0	0	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581990	84581990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:84581990C>A	uc002bjz.3	+	16	2071	c.1847C>A	c.(1846-1848)ACC>AAC	p.T616N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T616N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T616N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	616	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGCTGCCCACCGAACGGCCC	0.617		NA											10	38					7.48e-07	8.64e-07	1	0
ACAN	176	broad.mit.edu	37	15	89398229	89398229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:89398229C>A	uc010upo.1	+	12	2787	c.2413C>A	c.(2413-2415)CCA>ACA	p.P805T	ACAN_uc010upp.1_Missense_Mutation_p.P805T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	805					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAACCATTCCCCTC	0.602		NA											7	8					0.000157383	0.000170249	1	0
CRTC3	64784	broad.mit.edu	37	15	91083350	91083350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:91083350G>A	uc002bpp.2	+	2	318	c.212G>A	c.(211-213)AGC>AAC	p.S71N	CRTC3_uc002bpn.2_Missense_Mutation_p.S71N|CRTC3_uc002bpo.2_Missense_Mutation_p.S71N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	71	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCTGCGGAGCAGTGCGTCA	0.413		NA	T	MAML2	salivary gland mucoepidermoid								29	40					0	0	0	0
WDR90	197335	broad.mit.edu	37	16	701826	701826	+	Splice_Site	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:701826G>T	uc002cii.1	+	9	895	c.841_splice	c.e9-1	p.S281_splice	WDR90_uc002cig.1_Splice_Site_p.S281_splice|WDR90_uc002cih.1_Missense_Mutation_p.Q281H|WDR90_uc002cij.1_Splice_Site	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90											ovary(1)	1		Hepatocellular(780;0.0218)				TCCCCCAGCAGTCCGGCCGGG	0.687		NA											20	49					7.42e-09	8.96e-09	1	0
C16orf42	115939	broad.mit.edu	37	16	1400139	1400139	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:1400139C>A	uc002cll.2	-	4	691	c.623G>T	c.(622-624)TGC>TTC	p.C208F	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	208					rRNA processing						0		Hepatocellular(780;0.0893)				CGGGCTGCCGCAGGCCGCGTA	0.622		NA											17	18					1.57e-10	1.97e-10	1	0
NLRC3	197358	broad.mit.edu	37	16	3602217	3602217	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:3602217T>C	uc010btn.2	-	11	2741	c.2330A>G	c.(2329-2331)AAC>AGC	p.N777S	NLRC3_uc010bto.1_Missense_Mutation_p.N42S	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	777	LRR 7.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CAGACTCCTGTTCTGCTTCAA	0.388		NA											35	46					0	0	0	0
SBK1	388228	broad.mit.edu	37	16	28331653	28331653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:28331653C>T	uc002dpd.2	+	4	1475	c.686C>T	c.(685-687)GCG>GTG	p.A229V		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	229	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GACGGGCTGGCGGTGGACACG	0.736		NA											8	19					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10362566	10362566	+	Splice_Site	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:10362566A>T	uc002gmn.2	-	15	1698	c.1587_splice	c.e15+1	p.K529_splice	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						AGTCATATGAACCTTCTCGAT	0.473		NA											15	51					0	0	0	0
MYOCD	93649	broad.mit.edu	37	17	12661501	12661501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:12661501C>T	uc002gnn.2	+	11	2457	c.2158C>T	c.(2158-2160)CCT>TCT	p.P720S	MYOCD_uc002gno.2_Missense_Mutation_p.P768S|MYOCD_uc002gnp.1_Missense_Mutation_p.P672S|MYOCD_uc002gnq.2_Intron	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	720					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTAACACAGCCTCCATCCTA	0.393		NA											11	49					0	0	0	0
AMAC1	146861	broad.mit.edu	37	17	33521053	33521053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:33521053C>A	uc002hjd.2	-	1	360	c.274G>T	c.(274-276)GAC>TAC	p.D92Y		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	92	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		AGAAGGGGGTCGCCACGCAGT	0.582		NA											88	120					9.25e-40	1.28e-39	1	0
KRT34	3885	broad.mit.edu	37	17	39538432	39538432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:39538432G>T	uc002hwm.2	-	1	205	c.193C>A	c.(193-195)CCC>ACC	p.P65T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	65	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CAGCTGGGGGGCACGCAGGGC	0.622		NA											19	72					1.02e-10	1.28e-10	1	0
DHX8	1659	broad.mit.edu	37	17	41570954	41570954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:41570954G>A	uc002idu.1	+	7	1078	c.1005G>A	c.(1003-1005)ATG>ATA	p.M335I	DHX8_uc010wif.1_Missense_Mutation_p.M244I|DHX8_uc010wig.1_Missense_Mutation_p.M335I	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	335	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTGAGCATGAAGGTAGGTG	0.527		NA											15	70					0	0	0	0
KIF2B	84643	broad.mit.edu	37	17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:51900732C>T	uc002iua.2	+	1	494	c.338C>T	c.(337-339)ACG>ATG	p.T113M	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CGTACCGCCACGAAATGGGTT	0.592		NA											19	92					0	0	0	0
STXBP4	252983	broad.mit.edu	37	17	53158524	53158524	+	Missense_Mutation	SNP	G	G	A	rs35447433	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:53158524G>A	uc002iuf.1	+	16	1676	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	STXBP4_uc010dcd.1_Missense_Mutation_p.R468H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	490						cytoplasm	calcium ion binding			ovary(1)	1						AAATCTGTTCGTGCCTTACTT	0.378		NA											7	14					0	0	0	0
BRIP1	83990	broad.mit.edu	37	17	59763502	59763502	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763502T>A	uc002izk.1	-	19	2741	c.2600A>T	c.(2599-2601)CAG>CTG	p.Q867L	BRIP1_uc002izl.1_Missense_Mutation_p.Q248L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	867					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						GTGCTGAATCTGCTGCCGTAC	0.358		NA	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				9	83					0	0	0	0
BRIP1	83990	broad.mit.edu	37	17	59763514	59763514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763514C>A	uc002izk.1	-	19	2729	c.2588G>T	c.(2587-2589)TGG>TTG	p.W863L	BRIP1_uc002izl.1_Missense_Mutation_p.W244L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	863					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						CTGCCGTACCCATTTAGAAAG	0.348		NA	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				6	80					3.86e-05	4.25e-05	1	0
CCDC46	201134	broad.mit.edu	37	17	64062993	64062993	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64062993A>G	uc002jfl.2	-	10	1077	c.858T>C	c.(856-858)ATT>ATC	p.I286I	CCDC46_uc010deo.2_Silent_p.I28I|CCDC46_uc002jfm.2_Silent_p.I286I|CCDC46_uc010dep.2_Silent_p.I244I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	286	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TTCTTTCTAAAATCTGCAAAT	0.244		NA											7	13					0	0	0	0
CACNG5	27091	broad.mit.edu	37	17	64881204	64881204	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64881204C>T	uc010wqi.1	+	6	912	c.675C>T	c.(673-675)TCC>TCT	p.S225S	CACNG5_uc010wqj.1_Silent_p.S225S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	225				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTGCTCCGATTACTCAG	0.622		NA											13	35					0	0	0	0
ACTG1	71	broad.mit.edu	37	17	79478246	79478246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79478246C>T	uc002kaj.1	-	3	795	c.770G>A	c.(769-771)TGT>TAT	p.C257Y	ACTG1_uc002kah.1_Missense_Mutation_p.C135Y|ACTG1_uc002kai.1_Missense_Mutation_p.C214Y|ACTG1_uc002kak.1_Missense_Mutation_p.C257Y|ACTG1_uc010wun.1_Missense_Mutation_p.C257Y|ACTG1_uc002kal.1_Missense_Mutation_p.C257Y|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	257					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGCCTCCGGACACCGGAACCG	0.577		NA											18	108					0	0	0	0
PCYT2	5833	broad.mit.edu	37	17	79865452	79865452	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79865452T>C	uc002kcf.1	-	6	578	c.515A>G	c.(514-516)GAG>GGG	p.E172G	PCYT2_uc010wva.1_Missense_Mutation_p.E140G|PCYT2_uc010wvb.1_Missense_Mutation_p.E140G|PCYT2_uc002kce.1_Missense_Mutation_p.E94G|PCYT2_uc002kcg.1_Missense_Mutation_p.E183G|PCYT2_uc002kch.1_Missense_Mutation_p.E172G|PCYT2_uc002kci.1_Missense_Mutation_p.E113G|PCYT2_uc010dii.1_Missense_Mutation_p.E172G|PCYT2_uc010wvc.1_Missense_Mutation_p.E94G	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	172	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTCTGCATACTCCCGGTACTC	0.667		NA											3	9					0	0	0	0
MYOM1	8736	broad.mit.edu	37	18	3116435	3116435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:3116435C>T	uc002klp.2	-	21	3531	c.3197G>A	c.(3196-3198)GGG>GAG	p.G1066E	MYOM1_uc002klq.2_Missense_Mutation_p.G970E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1066	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CGGAGTCCGCCCGGAGTGGAC	0.547		NA											22	23					0	0	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956275	5956275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:5956275G>A	uc002kmz.3	-	20	1976	c.1816C>T	c.(1816-1818)CAT>TAT	p.H606Y	L3MBTL4_uc010dkt.2_Missense_Mutation_p.H606Y|L3MBTL4_uc002kmy.3_Missense_Mutation_p.H435Y	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	606	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				TCCTGGGAATGCCTGAACATC	0.498		NA											48	184					0	0	0	0
FAM59A	64762	broad.mit.edu	37	18	29867752	29867752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:29867752G>A	uc002kxl.2	-	4	864	c.808C>T	c.(808-810)CGC>TGC	p.R270C	FAM59A_uc002kxk.1_Missense_Mutation_p.R270C	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	270	CABIT.									ovary(1)|skin(1)	2						AACTTATAGCGGTGCCCCTCA	0.527		NA											16	67					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31323155	31323155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:31323155C>G	uc010dmg.1	+	12	3398	c.3343C>G	c.(3343-3345)CAA>GAA	p.Q1115E	ASXL3_uc002kxq.2_Missense_Mutation_p.Q822E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGCAAAGCATCAAGCTCGAGC	0.527		NA											4	23					0	0	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559422	44559422	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:44559422C>T	uc002lcr.1	-	1	2567	c.2214G>A	c.(2212-2214)CTG>CTA	p.L738L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron|TCEB3C_uc010xdb.1_5'Flank	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	738					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CCTTGGCCATCAGCGGGGCCA	0.562		NA											21	127					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64202289	64202289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:64202289T>C	uc002lkc.1	-	8	1408	c.1270A>G	c.(1270-1272)ACA>GCA	p.T424A	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T424A|CDH19_uc002lkd.2_Missense_Mutation_p.T424A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	424	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GAGTTACTTGTAGTGATTGTA	0.328		NA											4	33					0	0	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408379	2408379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:2408379G>A	uc010xgx.1	+	7	766	c.766G>A	c.(766-768)GCC>ACC	p.A256T	TMPRSS9_uc002lvv.1_Missense_Mutation_p.A290T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	256	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTGGGTGGCCTACGTGGG	0.542		NA											17	21					0	0	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499579	4499579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:4499579A>G	uc002mao.2	+	14	1760	c.1667A>G	c.(1666-1668)GAG>GGG	p.E556G	HDGFRP2_uc002map.2_Missense_Mutation_p.E556G|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.E21G|HDGFRP2_uc002maq.1_Missense_Mutation_p.E21G	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	556	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CCAAAGATCgaggcggtgcag	0.279		NA											8	3					0	0	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760804	15760804	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15760804A>T	uc002nbj.2	+	7	779	c.729A>T	c.(727-729)ATA>ATT	p.I243I	CYP4F3_uc010xok.1_Silent_p.I243I|CYP4F3_uc010xol.1_Silent_p.I243I|CYP4F3_uc010xom.1_Silent_p.I94I|CYP4F3_uc002nbk.2_Silent_p.I243I|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	243					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						TCCTGTACATAGACTTCCTGT	0.562		NA											7	71					0	0	0	0
ZNF506	440515	broad.mit.edu	37	19	19905448	19905448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:19905448C>G	uc010eci.2	-	4	1396	c.1248G>C	c.(1246-1248)AAG>AAC	p.K416N	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.K384N	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	416	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						TATGAATTTTCTTATGTTTAT	0.338		NA											28	29					0	0	0	0
NPHS1	4868	broad.mit.edu	37	19	36340485	36340485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:36340485G>T	uc002oby.2	-	6	679	c.679C>A	c.(679-681)CCC>ACC	p.P227T		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	227	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGATGGGGGCCTCCAGT	0.587		NA											28	55					1.31e-24	1.79e-24	1	0
HIF3A	64344	broad.mit.edu	37	19	46815462	46815462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:46815462G>C	uc002peh.2	+	7	844	c.815G>C	c.(814-816)TGT>TCT	p.C272S	HIF3A_uc002pef.1_Missense_Mutation_p.C272S|HIF3A_uc002peg.3_Missense_Mutation_p.C272S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.C216S|HIF3A_uc002pej.1_Missense_Mutation_p.C203S|HIF3A_uc002pek.2_Missense_Mutation_p.C216S|HIF3A_uc010xxy.1_Missense_Mutation_p.C203S|HIF3A_uc002pel.2_Missense_Mutation_p.C270S|HIF3A_uc010xxz.1_Missense_Mutation_p.C221S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	272	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCGGCTGTTCCGCCTAC	0.602		NA											57	98					0	0	0	0
ZNF432	9668	broad.mit.edu	37	19	52537631	52537631	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52537631C>A	uc002pyk.2	-	5	1619	c.1301G>T	c.(1300-1302)TGT>TTT	p.C434F		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	434	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACCTTTTCCACATTCACTACA	0.408		NA											16	71					6.32e-08	7.49e-08	1	0
ZNF610	162963	broad.mit.edu	37	19	52870011	52870011	+	Missense_Mutation	SNP	G	G	C	rs144093967	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52870011G>C	uc002pyx.3	+	6	1786	c.1380G>C	c.(1378-1380)CAG>CAC	p.Q460H	ZNF610_uc002pyy.3_Missense_Mutation_p.Q460H|ZNF610_uc002pyz.3_Missense_Mutation_p.Q417H|ZNF610_uc002pza.2_Missense_Mutation_p.Q460H	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTACCTTACAGATGGAATGAA	0.393		NA											3	50					0	0	0	0
ZNF415	55786	broad.mit.edu	37	19	53612056	53612056	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:53612056G>A	uc002qax.2	-	7	1735	c.1386C>T	c.(1384-1386)TGC>TGT	p.C462C	ZNF415_uc002qat.2_Silent_p.C426C|ZNF415_uc002qaw.2_Silent_p.C414C|ZNF415_uc010yds.1_Silent_p.C414C|ZNF415_uc010ydt.1_Silent_p.C414C|ZNF415_uc002qau.2_Silent_p.C401C|ZNF415_uc002qav.2_Silent_p.C426C|ZNF415_uc002qba.2_Silent_p.C184C|ZNF415_uc002qay.2_Silent_p.C401C|ZNF415_uc002qaz.2_Silent_p.C462C	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	462	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CACATTCATTGCATTTGTAAG	0.403		NA											23	41					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54313980	54313980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54313980G>T	uc002qch.3	-	3	1153	c.933C>A	c.(931-933)TGC>TGA	p.C311*	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.C311*	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	311	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCAGAGGCACCAGGGTC	0.567		NA											14	46					2.32e-09	2.83e-09	1	0
TSEN34	79042	broad.mit.edu	37	19	54695621	54695621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54695621G>A	uc002qdu.2	+	3	402	c.293G>A	c.(292-294)AGC>AAC	p.S98N	MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.S98N|TSEN34_uc002qdv.2_Missense_Mutation_p.S98N|TSEN34_uc002qdw.2_Missense_Mutation_p.S98N	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	98					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGAGCAGAGCGCCTTGGCA	0.582		NA											25	72					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54761048	54761048	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54761048G>A	uc002qex.2	-	1	120	c.9C>T	c.(7-9)CTC>CTT	p.L3L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.L3L|LILRB5_uc002qey.2_Silent_p.L3L|LILRB5_uc002qez.2_Silent_p.L3L|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	3					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGAGGGTGAGGGTCATGG	0.587		NA											9	44					0	0	0	0
ZNF471	57573	broad.mit.edu	37	19	57035697	57035697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:57035697G>T	uc002qnh.2	+	5	394	c.261G>T	c.(259-261)TGG>TGT	p.W87C		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTCAGATTGGGAATCTATAT	0.333		NA											14	50					2.23e-06	2.55e-06	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NA											3	11					0.004672	0.00481588	1	0
ZNF135	7694	broad.mit.edu	37	19	58579086	58579086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58579086T>A	uc010yhq.1	+	5	1366	c.1270T>A	c.(1270-1272)TGT>AGT	p.C424S	ZNF135_uc002qre.2_Missense_Mutation_p.C412S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370S|ZNF135_uc002qrg.2_Missense_Mutation_p.C382S|ZNF135_uc010yhr.1_Missense_Mutation_p.C233S	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCCTATGAGTGTGGTGAGTG	0.542		NA											18	25					0	0	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919048	8919048	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:8919048G>T	uc002qzc.2	-	19	2774	c.2592C>A	c.(2590-2592)GAC>GAA	p.D864E	KIDINS220_uc010yiv.1_Missense_Mutation_p.D630E|KIDINS220_uc002qzd.2_Missense_Mutation_p.D822E|KIDINS220_uc010yiw.1_Missense_Mutation_p.D865E	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	864	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCATGGAACGTCTCCATTTG	0.398		NA											17	114					1.34e-09	1.64e-09	1	0
GALNT14	79623	broad.mit.edu	37	2	31133837	31133837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:31133837C>G	uc002rnr.2	-	15	2208	c.1589G>C	c.(1588-1590)GGC>GCC	p.G530A	GALNT14_uc002rnq.2_Missense_Mutation_p.G510A|GALNT14_uc002rns.2_Missense_Mutation_p.G535A|GALNT14_uc010ymr.1_Missense_Mutation_p.G495A	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	530	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GATTTCCTTGCCGTTCTCGGT	0.542		NA											16	71					0	0	0	0
SMEK2	57223	broad.mit.edu	37	2	55831140	55831140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:55831140C>T	uc002rzc.2	-	3	646	c.271G>A	c.(271-273)GAT>AAT	p.D91N	SMEK2_uc002rzb.2_Missense_Mutation_p.D91N|SMEK2_uc002rzd.2_Missense_Mutation_p.D91N|SMEK2_uc002rza.2_5'UTR	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	91	WH1.					microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGATCTCATCACAGCCAGCT	0.299		NA											16	65					0	0	0	0
FER1L5	90342	broad.mit.edu	37	2	97370099	97370099	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:97370099G>A	uc010fia.2	+	51	6057	c.6057G>A	c.(6055-6057)CCG>CCA	p.P2019P	FER1L5_uc002sws.3_Silent_p.P728P|FER1L5_uc002swt.3_Silent_p.P728P|FER1L5_uc010yus.1_Silent_p.P727P	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	2019						integral to membrane				ovary(1)	1						ATTCAGCTCCGGTGAGTGGCA	0.483		NA											58	120					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141027836G>C	uc002tvj.1	-	86	14194	c.13222C>G	c.(13222-13224)CCC>GCC	p.P4408A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4408	Extracellular (Potential).|EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403		NA								TSP Lung(27;0.18)			19	38					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141128763	141128763	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141128763A>G	uc002tvj.1	-	70	11832	c.10860T>C	c.(10858-10860)GCT>GCC	p.A3620A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3620	Extracellular (Potential).|LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCAGCACAATCAT	0.299		NA								TSP Lung(27;0.18)			3	21					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141571366	141571366	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141571366A>G	uc002tvj.1	-	32	6191	c.5219T>C	c.(5218-5220)ATA>ACA	p.I1740T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1740	Extracellular (Potential).|LDL-receptor class B 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAGTCTATCGATAGACC	0.343		NA								TSP Lung(27;0.18)			7	58					0	0	0	0
MBD5	55777	broad.mit.edu	37	2	149226943	149226943	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:149226943A>T	uc002twm.3	+	9	2419	c.1431A>T	c.(1429-1431)GTA>GTT	p.V477V	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.V477V|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	477						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCACCTGTAGGACCCCAGG	0.502		NA											7	31					0	0	0	0
IFIH1	64135	broad.mit.edu	37	2	163134806	163134806	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:163134806C>A	uc002uce.2	-	9	1896	c.1674G>T	c.(1672-1674)ATG>ATT	p.M558I		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	558					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						GAATCCTTGTCATTATTTCTA	0.289		NA											5	38					1.24e-05	1.38e-05	1	0
COL5A2	1290	broad.mit.edu	37	2	189962019	189962019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:189962019C>T	uc002uqk.2	-	6	715	c.440G>A	c.(439-441)GGG>GAG	p.G147E		NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	147					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTTTGGCCCTCGCTCTCC	0.443		NA											8	55					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196834805	196834805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:196834805C>T	uc002utj.3	-	17	2173	c.2072G>A	c.(2071-2073)CGG>CAG	p.R691Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	691	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CTCCACAAACCGTTCACACCG	0.323		NA											19	54					0	0	0	0
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Missense_Mutation	SNP	C	C	G	rs151231252		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:198950188C>G	uc010fsp.2	+	2	2238	c.1947C>G	c.(1945-1947)ATC>ATG	p.I649M	PLCL1_uc002uuv.3_Missense_Mutation_p.I570M	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423		NA											5	45					0	0	0	0
ABCA12	26154	broad.mit.edu	37	2	215880315	215880315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:215880315T>A	uc002vew.2	-	15	2075	c.1855A>T	c.(1855-1857)AAA>TAA	p.K619*	ABCA12_uc002vev.2_Nonsense_Mutation_p.K301*|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	619					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGAATTCTTTCATTGCATCT	0.403		NA											8	25					0	0	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066107	241066107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:241066107C>A	uc002vyu.1	-	5	632	c.632G>T	c.(631-633)AGC>ATC	p.S211I		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGTCTTCGCTGACCTCTCG	0.478		NA											41	57					2.66e-13	3.42e-13	1	0
CSNK2A1	1457	broad.mit.edu	37	20	489118	489118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:489118G>T	uc002wdw.1	-	3	471	c.78C>A	c.(76-78)TAC>TAA	p.Y26*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Y26*|CSNK2A1_uc002wdy.1_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.458		NA											33	29					1.59e-14	2.07e-14	1	0
ZHX3	23051	broad.mit.edu	37	20	39832794	39832794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:39832794C>A	uc002xjs.1	-	3	1141	c.763G>T	c.(763-765)GGG>TGG	p.G255W	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.G255W|ZHX3_uc002xjt.1_Missense_Mutation_p.G255W|ZHX3_uc002xju.1_Missense_Mutation_p.G255W|ZHX3_uc002xjv.1_Missense_Mutation_p.G255W|ZHX3_uc002xjw.1_Missense_Mutation_p.G255W|ZHX3_uc010ggg.1_Missense_Mutation_p.G255W	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	255	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				ATCAGGGGCCCGTTGGCGGCA	0.582		NA											22	69					1.87e-06	2.14e-06	1	0
L3MBTL	26013	broad.mit.edu	37	20	42168941	42168941	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:42168941T>A	uc010zwh.1	+	20	2304	c.2258T>A	c.(2257-2259)ATC>AAC	p.I753N	L3MBTL_uc002xkl.2_Missense_Mutation_p.I685N|L3MBTL_uc002xkm.2_Missense_Mutation_p.I685N|L3MBTL_uc010ggl.2_Missense_Mutation_p.I690N|L3MBTL_uc002xkn.1_Missense_Mutation_p.I444N|L3MBTL_uc002xko.2_Missense_Mutation_p.I337N|L3MBTL_uc002xkp.2_Missense_Mutation_p.I73N|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	685	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGTGGACCATCGATGAGGTG	0.612		NA											34	43					0	0	0	0
EDN3	1908	broad.mit.edu	37	20	57896161	57896161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:57896161C>T	uc002yap.2	+	3	824	c.455C>T	c.(454-456)TCA>TTA	p.S152L	EDN3_uc002yao.1_Missense_Mutation_p.S152L|EDN3_uc002yaq.2_Missense_Mutation_p.S152L|EDN3_uc002yar.2_Missense_Mutation_p.S152L|EDN3_uc002yas.2_Missense_Mutation_p.S152L	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	152					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			skin(1)	1	all_lung(29;0.0115)					CTGCAGCTCTCACATCGGCCA	0.582		NA											33	77					0	0	0	0
LAMA5	3911	broad.mit.edu	37	20	60908211	60908211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:60908211G>A	uc002ycq.2	-	26	3284	c.3217C>T	c.(3217-3219)CGG>TGG	p.R1073W		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1073	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGCCGGGGCAGGCTG	0.701		NA											8	6					0	0	0	0
TFIP11	24144	broad.mit.edu	37	22	26894935	26894935	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:26894935T>A	uc003acr.2	-	9	1710	c.1336A>T	c.(1336-1338)ACT>TCT	p.T446S	TFIP11_uc003acs.2_Missense_Mutation_p.T446S|TFIP11_uc003act.2_Missense_Mutation_p.T446S	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	446					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTGCCATAAGTGCAGTCCTGA	0.557		NA											106	63					0	0	0	0
ADSL	158	broad.mit.edu	37	22	40757500	40757501	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757500_40757501GC>TG	uc003ayp.3	+	9	930_931	c.871_872GC>TG	c.(871-873)GCG>TGG	p.A291W	ADSL_uc003ays.3_Missense_Mutation_p.A291W|ADSL_uc003ayq.3_Missense_Mutation_p.A291W|ADSL_uc003ayr.3_Missense_Mutation_p.A67W|ADSL_uc003ayt.3_Missense_Mutation_p.A276W|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						AGGCTCAAGTGCGATGCCATAT	0.525		NA											17	99					0	0	0	0
SGSM3	27352	broad.mit.edu	37	22	40800432	40800432	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40800432C>T	uc003ayu.1	+	5	548	c.339C>T	c.(337-339)GCC>GCT	p.A113A	SGSM3_uc010gyc.1_Silent_p.A113A|SGSM3_uc011aos.1_Silent_p.A46A|SGSM3_uc011aot.1_Silent_p.A50A|SGSM3_uc010gyd.1_Silent_p.A113A	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	113					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						TGGTGCTGGCCGGCATCCCAC	0.607		NA											23	12					0	0	0	0
CELSR1	9620	broad.mit.edu	37	22	46806456	46806456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:46806456G>A	uc003bhw.1	-	7	4772	c.4772C>T	c.(4771-4773)TCC>TTC	p.S1591F	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1591	Extracellular (Potential).|Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATCCAGGGACCTGGGTAG	0.642		NA											32	26					0	0	0	0
CNTN6	27255	broad.mit.edu	37	3	1444056	1444056	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:1444056A>G	uc003boz.2	+	22	3139	c.2872A>G	c.(2872-2874)ACA>GCA	p.T958A	CNTN6_uc011asj.1_Missense_Mutation_p.T886A|CNTN6_uc003bpa.2_Missense_Mutation_p.T958A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	958	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAAACAATACATCAGCTGA	0.368		NA											19	21					0	0	0	0
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:10401651G>A	uc003bvt.2	-	13	2255	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	ATP2B2_uc003bvv.2_Missense_Mutation_p.R561C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R561C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R311C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	606	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ATGGACTTGCGCACGGAGTTG	0.577		NA											53	42					0	0	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727527	42727527	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:42727527C>T	uc003clv.1	+	1	517	c.417C>T	c.(415-417)CTC>CTT	p.L139L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	139	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTTCCGTCTCGGCCTCCTGC	0.652		NA											52	50					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	100963144	100963144	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:100963144T>C	uc003duq.1	-	13	2234	c.2031A>G	c.(2029-2031)CCA>CCG	p.P677P	IMPG2_uc011bhe.1_Silent_p.P540P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	677	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GCTCTTCCTCTGGAAAGTGTG	0.443		NA											3	43					0	0	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634611	113634611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113634611C>T	uc003eaq.3	+	10	1092	c.1016C>T	c.(1015-1017)GCT>GTT	p.A339V	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.A172V|GRAMD1C_uc003eas.2_Missense_Mutation_p.A134V|GRAMD1C_uc003eat.2_5'UTR	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral to membrane				ovary(2)|skin(1)	3						CATATCAGTGCTGACAGAATG	0.338		NA											11	40					0	0	0	0
DRD3	1814	broad.mit.edu	37	3	113866346	113866346	+	Missense_Mutation	SNP	G	G	A	rs141573183		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113866346G>A	uc003ebd.2	-	5	865	c.442C>T	c.(442-444)CGG>TGG	p.R148W	DRD3_uc010hqn.1_Missense_Mutation_p.R148W|DRD3_uc003ebb.1_Missense_Mutation_p.R148W|DRD3_uc003ebc.1_Missense_Mutation_p.R148W	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	148	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562		NA											4	69					0	0	0	0
PCCB	5096	broad.mit.edu	37	3	135969356	135969356	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:135969356C>T	uc003eqy.1	+	1	190	c.139C>T	c.(139-141)CTG>TTG	p.L47L	PCCB_uc003eqz.1_Silent_p.L47L|PCCB_uc011bmc.1_Silent_p.L47L	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	47	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CCGGACCGCGCTGCTGGGAGG	0.667		NA									OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	0	0
TRIM42	287015	broad.mit.edu	37	3	140409849	140409849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:140409849G>A	uc003eto.1	+	4	2091	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	634	Fibronectin type-III.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						GGACTCTTTTGAGATGGAATT	0.418		NA											19	78					0	0	0	0
SLC7A14	57709	broad.mit.edu	37	3	170185021	170185021	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:170185021T>C	uc003fgz.2	-	8	2454	c.2138A>G	c.(2137-2139)GAG>GGG	p.E713G	CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	713						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTCTCGCCCTCTGTGGCGTA	0.572		NA											24	48					0	0	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556795	15556795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:15556795A>G	uc010idv.2	+	21	2832	c.2587A>G	c.(2587-2589)AAT>GAT	p.N863D	CC2D2A_uc003gnx.2_Missense_Mutation_p.N814D|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	863					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						GCTCGACCCAAATGACCCCAA	0.463		NA											10	27					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62758534	62758534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:62758534C>G	uc010ihh.2	+	7	1610	c.1437C>G	c.(1435-1437)GAC>GAG	p.D479E	LPHN3_uc003hcq.3_Missense_Mutation_p.D479E|LPHN3_uc003hcs.1_Missense_Mutation_p.D308E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	479	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TACTTGATGACATGACCACAC	0.527		NA											9	42					0	0	0	0
SEC31A	22872	broad.mit.edu	37	4	83748592	83748592	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:83748592C>G	uc003hnf.2	-	24	3385	c.3221G>C	c.(3220-3222)GGC>GCC	p.G1074A	SEC31A_uc003hnd.2_Missense_Mutation_p.G243A|SEC31A_uc003hne.2_Missense_Mutation_p.G823A|SEC31A_uc011ccl.1_Missense_Mutation_p.G1020A|SEC31A_uc003hnl.2_Missense_Mutation_p.G921A|SEC31A_uc003hng.2_Missense_Mutation_p.G1059A|SEC31A_uc003hnh.2_Missense_Mutation_p.G1074A|SEC31A_uc003hni.2_Missense_Mutation_p.G960A|SEC31A_uc003hnj.2_Missense_Mutation_p.G1035A|SEC31A_uc011ccm.1_Missense_Mutation_p.G1054A|SEC31A_uc011ccn.1_Missense_Mutation_p.G1059A|SEC31A_uc003hnk.2_Missense_Mutation_p.G1035A|SEC31A_uc003hnm.2_Missense_Mutation_p.G1074A	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1074	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGGTGGCATGCCTGTTTGACC	0.502		NA											30	147					0	0	0	0
MMRN1	22915	broad.mit.edu	37	4	90856493	90856493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:90856493G>T	uc003hst.2	+	6	1733	c.1662G>T	c.(1660-1662)AAG>AAT	p.K554N	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.K296N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	554					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAATATAAAGAAGCAGAGTT	0.383		NA											10	59					5.51e-06	6.19e-06	1	0
SGMS2	166929	broad.mit.edu	37	4	108831579	108831579	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:108831579A>T	uc003hyl.3	+	7	1523	c.968A>T	c.(967-969)AAA>ATA	p.K323I	uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.K323I|SGMS2_uc003hyo.2_Missense_Mutation_p.K323I	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323	Cytoplasmic (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.K323N(1)		lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TTTTTTGAGAAAAATGTACAA	0.398		NA											29	30					0	0	0	0
NDST4	64579	broad.mit.edu	37	4	115998155	115998155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:115998155G>T	uc003ibu.2	-	2	717	c.38C>A	c.(37-39)ACA>AAA	p.T13K	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	13	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348		NA											4	20					0.00909568	0.00930835	1	0
PCDH10	57575	broad.mit.edu	37	4	134073285	134073285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:134073285G>T	uc003iha.2	+	1	2816	c.1990G>T	c.(1990-1992)GGG>TGG	p.G664W	PCDH10_uc003igz.2_Missense_Mutation_p.G664W	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	664	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCGACCATGGGCAGCCGCC	0.612		NA											5	35					0.000602214	0.000635733	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504953	151504953	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:151504953C>A	uc003ilw.2	+	1	1877	c.772C>A	c.(772-774)CGG>AGG	p.R258R	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	258					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAAGACTCTGCGGGACCGCCA	0.627		NA											31	23					2.44e-19	3.24e-19	1	0
GLRB	2743	broad.mit.edu	37	4	158060002	158060002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:158060002G>T	uc003ipj.2	+	7	854	c.652G>T	c.(652-654)GGA>TGA	p.G218*		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	218	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGGCAGTCAGGAGATCCTGT	0.274		NA											12	70					2.62e-11	3.29e-11	1	0
KLHL2	11275	broad.mit.edu	37	4	166232680	166232680	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:166232680T>C	uc003irb.2	+	11	1561	c.1302T>C	c.(1300-1302)AAT>AAC	p.N434N	KLHL2_uc011cjm.1_Silent_p.N438N|KLHL2_uc003irc.2_Silent_p.N346N|KLHL2_uc010ira.2_Silent_p.N87N	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	434	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTCCCATGAATACAAGGAGGA	0.418		NA											29	155					0	0	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136622	9136622	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9136622C>A	uc003jek.2	-	13	2305	c.1593G>T	c.(1591-1593)GCG>GCT	p.A531A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	531	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCACCGGACACGCAGAGATGC	0.587		NA											4	27					0.00024832	0.000266091	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190523	9190523	+	Missense_Mutation	SNP	G	G	C	rs147170997		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9190523G>C	uc003jek.2	-	11	1841	c.1129C>G	c.(1129-1131)CAG>GAG	p.Q377E		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	377	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ATGAACTTCTGAGCATCCTGC	0.577		NA											23	33					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63256581	63256581	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:63256581C>T	uc011cqt.1	-	1	966	c.966G>A	c.(964-966)GAG>GAA	p.E322E		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	322	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATTTTTCCTCTCGAAAGAGG	0.617		NA											7	55					0	0	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954373	75954373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:75954373G>T	uc003kek.2	+	21	2632	c.2410G>T	c.(2410-2412)GTT>TTT	p.V804F	IQGAP2_uc010izv.2_Missense_Mutation_p.V357F|IQGAP2_uc011csv.1_Missense_Mutation_p.V300F|IQGAP2_uc003kel.2_Missense_Mutation_p.V300F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAACTAGAGGTTGCACGATT	0.448		NA											37	45					2.19e-23	2.98e-23	1	0
TMEM167A	153339	broad.mit.edu	37	5	82357723	82357723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:82357723C>T	uc003khx.3	-	3	251	c.121G>A	c.(121-123)GGT>AGT	p.G41S		NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A precursor	41	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CAAAATATACCCAACAATCTG	0.303		NA											9	40					0	0	0	0
BRD8	10902	broad.mit.edu	37	5	137476488	137476488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:137476488A>G	uc003lcf.1	-	26	3576	c.3521T>C	c.(3520-3522)CTG>CCG	p.L1174P	BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1174	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGAACATCAGCATCAGGTC	0.483		NA											60	255					0	0	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223207	140223207	+	Silent	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140223207G>C	uc003lhs.2	+	1	2301	c.2301G>C	c.(2299-2301)ACG>ACC	p.T767T	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_uc003lhr.1_Silent_p.T767T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	767	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAAGACGGACCTCATGG	0.572		NA											12	33					0	0	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588692	140588692	+	Missense_Mutation	SNP	C	C	A	rs145009914		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140588692C>A	uc003liz.2	+	1	402	c.213C>A	c.(211-213)AAC>AAA	p.N71K	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	71	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAACAAAGAGTGTT	0.522		NA											31	62					2.08e-15	2.72e-15	1	0
WWC1	23286	broad.mit.edu	37	5	167855056	167855056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:167855056G>T	uc003lzu.2	+	12	1922	c.1829G>T	c.(1828-1830)GGG>GTG	p.G610V	WWC1_uc003lzv.2_Missense_Mutation_p.G610V|WWC1_uc011den.1_Missense_Mutation_p.G610V|WWC1_uc003lzw.2_Missense_Mutation_p.G409V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	610					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGGCCCAGGGGTGTGGCCTG	0.512		NA											15	31					6.32e-08	7.49e-08	1	0
SLIT3	6586	broad.mit.edu	37	5	168135107	168135107	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:168135107T>G	uc003mab.2	-	26	3140	c.2720_splice	c.e26-1	p.G907_splice	SLIT3_uc010jjg.2_Silent_p.P913P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGGCCCTGGGCAGCAAA	0.612		NA											5	41					0	0	0	0
CCDC99	54908	broad.mit.edu	37	5	169015579	169015579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:169015579G>C	uc003mae.3	+	2	438	c.159G>C	c.(157-159)GAG>GAC	p.E53D	CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	53	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATGACTGAGGTAGGACTCT	0.363		NA											9	38					0	0	0	0
CDHR2	54825	broad.mit.edu	37	5	176005489	176005489	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176005489G>A	uc003mem.1	+	16	1764	c.1698G>A	c.(1696-1698)CTG>CTA	p.L566L	CDHR2_uc003men.1_Silent_p.L566L	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	566	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GCGGGAACCTGTCCTCCTCCA	0.627		NA											4	23					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176637776	176637776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176637776C>A	uc003mfr.3	+	5	2514	c.2376C>A	c.(2374-2376)TGC>TGA	p.C792*	NSD1_uc003mft.3_Nonsense_Mutation_p.C523*|NSD1_uc003mfs.1_Nonsense_Mutation_p.C689*|NSD1_uc011dfx.1_Nonsense_Mutation_p.C440*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	792					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)		GTATAAAGTGCAAACACAAAG	0.428		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			11	38					0.000673444	0.000708299	1	0
NSD1	64324	broad.mit.edu	37	5	176684042	176684042	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176684042G>C	uc003mfr.3	+	13	4994	c.4856G>C	c.(4855-4857)TGT>TCT	p.C1619S	NSD1_uc003mft.3_Missense_Mutation_p.C1350S|NSD1_uc003mfs.1_Missense_Mutation_p.C1516S|NSD1_uc011dfx.1_Missense_Mutation_p.C1267S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1619	PHD-type 2.				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)		CATGAAGAGTGTGTCCAGAAG	0.468		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			39	50					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176721512	176721512	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176721512C>A	uc003mfr.3	+	23	7281	c.7143C>A	c.(7141-7143)CCC>CCA	p.P2381P	NSD1_uc003mft.3_Silent_p.P2112P|NSD1_uc011dfx.1_Silent_p.P2029P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2381	Pro-rich.				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)		CCTCAGTTCCCACTGGCCTGA	0.562		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			16	63					2.32e-05	2.57e-05	1	0
NCR2	9436	broad.mit.edu	37	6	41318574	41318574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:41318574G>C	uc003oqh.2	+	5	890	c.803G>C	c.(802-804)AGC>ACC	p.S268T	NCR2_uc003oqi.2_3'UTR|NCR2_uc003oqj.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	268	Cytoplasmic (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					actaagataagcgatgatgat	0.129		NA											16	34					0	0	0	0
COL19A1	1310	broad.mit.edu	37	6	70778326	70778326	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:70778326G>T	uc003pfc.1	+	15	1299	c.1182G>T	c.(1180-1182)GGG>GGT	p.G394G	COL19A1_uc010kam.1_Silent_p.G290G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	394	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GTTCCCTGGGGATACAAGGCC	0.418		NA											13	38					1.68e-08	2.01e-08	1	0
SLC35F1	222553	broad.mit.edu	37	6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:118556735T>C	uc003pxx.3	+	3	614	c.413T>C	c.(412-414)ATA>ACA	p.I138T		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433		NA											23	46					0	0	0	0
FAM184A	79632	broad.mit.edu	37	6	119341265	119341265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:119341265C>A	uc003pyj.2	-	4	1558	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*	FAM184A_uc003pyk.3_Nonsense_Mutation_p.E284*|FAM184A_uc003pyl.3_Nonsense_Mutation_p.E284*	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	404	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TTTTCTGATTCTAAATCTTTA	0.363		NA											13	35					9.05e-12	1.15e-11	1	0
LAMA2	3908	broad.mit.edu	37	6	129674405	129674405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129674405C>G	uc003qbn.2	+	32	4725	c.4620C>G	c.(4618-4620)GAC>GAG	p.D1540E	LAMA2_uc003qbo.2_Missense_Mutation_p.D1540E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1540	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCCTGTGACCCTGTCACAG	0.602		NA											23	50					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129714275	129714275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129714275G>T	uc003qbn.2	+	37	5425	c.5320G>T	c.(5320-5322)GAA>TAA	p.E1774*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.E1774*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1774	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGATCTCCGGGAAAAACTGGC	0.448		NA											17	47					4.75e-09	5.76e-09	1	0
ENPP3	5169	broad.mit.edu	37	6	132039838	132039838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:132039838G>A	uc003qcu.3	+	17	1786	c.1439G>A	c.(1438-1440)GGA>GAA	p.G480E	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.G480E	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	480	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATTGTGGAGGAGGCAACCAT	0.234		NA											25	67					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:152665276G>T	uc010kiw.2	-	74	12767	c.12165C>A	c.(12163-12165)GTC>GTA	p.V4055V	SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.478		NA								HNSCC(10;0.0054)			42	39					3.62e-18	4.79e-18	1	0
SDK1	221935	broad.mit.edu	37	7	4188976	4188976	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:4188976C>T	uc003smx.2	+	30	4645	c.4506C>T	c.(4504-4506)GGC>GGT	p.G1502G	SDK1_uc010kso.2_Silent_p.G778G|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1502	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTCCCGGGCAGCGACGGGG	0.677		NA											10	22					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48312325	48312325	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:48312325T>A	uc003toq.2	+	17	3087	c.3062T>A	c.(3061-3063)CTT>CAT	p.L1021H	ABCA13_uc010kyr.2_Missense_Mutation_p.L524H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1021					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GCAGAGGTTCTTGGGGGAATT	0.338		NA											8	13					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82582945	82582945	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:82582945T>A	uc003uhx.2	-	5	7613	c.7324A>T	c.(7324-7326)AAG>TAG	p.K2442*	PCLO_uc003uhv.2_Nonsense_Mutation_p.K2442*|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGTTAACTTTTTTTTAGGA	0.274		NA											3	12					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86479718	86479718	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:86479718C>T	uc003uid.2	+	5	3523	c.2424C>T	c.(2422-2424)AGC>AGT	p.S808S	GRM3_uc010lef.2_Missense_Mutation_p.P451S|GRM3_uc010leg.2_Silent_p.S680S|GRM3_uc010leh.2_Silent_p.S400S	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	808	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTGTCAGCCTGAGTGGCT	0.488		NA											17	30					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98609784	98609784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:98609784G>T	uc003upp.2	+	72	11595	c.11386G>T	c.(11386-11388)GCC>TCC	p.A3796S	TRRAP_uc011kis.1_Missense_Mutation_p.A3767S|TRRAP_uc003upr.2_Missense_Mutation_p.A3502S|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3796	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCTCGGCCGCCGGGCAGCC	0.582		NA											16	23					2e-07	2.35e-07	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:99757693C>A	uc003utt.2	-	3	2336	c.1319G>T	c.(1318-1320)CGG>CTG	p.R440L	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R440L|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R378L	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557		NA											14	67					1.05e-09	1.3e-09	1	0
FBXL13	222235	broad.mit.edu	37	7	102604000	102604000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:102604000G>T	uc003vaq.2	-	8	1131	c.704C>A	c.(703-705)CCC>CAC	p.P235H	FBXL13_uc010liq.1_Missense_Mutation_p.P50H|FBXL13_uc010lir.1_Missense_Mutation_p.P235H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P235H|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	235	LRR 1.										0						GAAAGTTTTGGGTCGGAGAAG	0.328		NA											20	55					3.62e-10	4.5e-10	1	0
DOCK4	9732	broad.mit.edu	37	7	111379256	111379256	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:111379256G>A	uc003vfx.2	-	48	5408	c.5139C>T	c.(5137-5139)AAC>AAT	p.N1713N	DOCK4_uc011kml.1_Silent_p.N594N|DOCK4_uc011kmm.1_Silent_p.N620N|DOCK4_uc003vfw.2_Silent_p.N1163N|DOCK4_uc003vfy.2_Silent_p.N1758N|DOCK4_uc003vfv.2_Silent_p.N26N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1713	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ACAGGCAAGAGTTTTCTCGGG	0.483		NA											15	85					0	0	0	0
CHRM2	1129	broad.mit.edu	37	7	136700500	136700500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:136700500G>C	uc003vtf.1	+	4	1511	c.888G>C	c.(886-888)ATG>ATC	p.M296I	CHRM2_uc003vtg.1_Missense_Mutation_p.M296I|CHRM2_uc003vtj.1_Missense_Mutation_p.M296I|CHRM2_uc003vtk.1_Missense_Mutation_p.M296I|CHRM2_uc003vtl.1_Missense_Mutation_p.M296I|CHRM2_uc003vtm.1_Missense_Mutation_p.M296I|CHRM2_uc003vti.1_Missense_Mutation_p.M296I|CHRM2_uc003vto.1_Missense_Mutation_p.M296I|CHRM2_uc003vtn.1_Missense_Mutation_p.M296I|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	296	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCTAATATGAGAGATGATG	0.478		NA											9	67					0	0	0	0
TMEM213	155006	broad.mit.edu	37	7	138487681	138487681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:138487681G>A	uc010lna.2	+	3	302	c.191G>A	c.(190-192)CGC>CAC	p.R64H	TMEM213_uc010lnb.2_Missense_Mutation_p.R63H	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	transmembrane protein 213	64	Extracellular (Potential).					integral to membrane					0						CGGTGCTGCCGCACAGGAGTG	0.627		NA											19	36					0	0	0	0
ZNF398	57541	broad.mit.edu	37	7	148851047	148851047	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:148851047G>T	uc003wfl.2	+	2	310	c.35G>T	c.(34-36)TGG>TTG	p.W12L	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W17L	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	12					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACATCTGAATGGGACTCCGAG	0.493		NA											21	88					2.98e-07	3.49e-07	1	0
ZNF862	643641	broad.mit.edu	37	7	149545456	149545456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:149545456G>A	uc010lpn.2	+	4	1066	c.874G>A	c.(874-876)GAT>AAT	p.D292N	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AGAAATCACTGATGGCATCCA	0.403		NA											3	14					0	0	0	0
USP17L2	377630	broad.mit.edu	37	8	11994697	11994697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:11994697C>A	uc003wvc.1	-	1	1573	c.1573G>T	c.(1573-1575)GCT>TCT	p.A525S	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	525					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						ACAAGCAGAGCCCTCTTGCTG	0.448		NA											12	42					1.05e-09	1.3e-09	1	0
ANK1	286	broad.mit.edu	37	8	41572572	41572572	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:41572572G>A	uc003xok.2	-	15	1707	c.1623C>T	c.(1621-1623)CAC>CAT	p.H541H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.H541H|ANK1_uc003xoj.2_Silent_p.H541H|ANK1_uc003xol.2_Silent_p.H541H|ANK1_uc003xom.2_Silent_p.H574H	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	541	89 kDa domain.|ANK 16.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCGCCACGTGCAGAGGGG	0.627		NA											24	67					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886180	88886180	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:88886180C>G	uc003ydz.2	-	1	117	c.20G>C	c.(19-21)CGA>CCA	p.R7P		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	7										ovary(1)	1						CTCGAGCAGTCGCGGTCTTTT	0.522		NA											14	34					0	0	0	0
RIPK2	8767	broad.mit.edu	37	8	90798848	90798848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:90798848G>A	uc003yee.2	+	9	1371	c.1057G>A	c.(1057-1059)GAA>AAA	p.E353K	RIPK2_uc003yef.2_Missense_Mutation_p.E216K	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	353					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAGCTCCATGAAAATAGTGG	0.318		NA											24	112					0	0	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538791	95538791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:95538791C>T	uc003ygo.1	-	8	1694	c.1681G>A	c.(1681-1683)GAA>AAA	p.E561K	KIAA1429_uc003ygp.2_Missense_Mutation_p.E561K|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	561					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACAAGACTTCATAGAAATGG	0.403		NA											33	164					0	0	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541965	101541965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:101541965C>T	uc003yjm.2	-	3	301	c.97G>A	c.(97-99)GAA>AAA	p.E33K	ANKRD46_uc003yjn.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjo.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjp.1_Missense_Mutation_p.E33K	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	33	ANK 1.					integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCCACTTTCCAAAAGCCGC	0.453		NA											14	90					0	0	0	0
SYBU	55638	broad.mit.edu	37	8	110587410	110587410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:110587410G>C	uc003ynj.3	-	7	1880	c.1717C>G	c.(1717-1719)CTC>GTC	p.L573V	SYBU_uc003yni.3_Missense_Mutation_p.L570V|SYBU_uc003ynk.3_Missense_Mutation_p.L454V|SYBU_uc010mco.2_Missense_Mutation_p.L572V|SYBU_uc003ynl.3_Missense_Mutation_p.L572V|SYBU_uc010mcp.2_Missense_Mutation_p.L573V|SYBU_uc010mcq.2_Missense_Mutation_p.L573V|SYBU_uc003yno.3_Missense_Mutation_p.L454V|SYBU_uc010mcr.2_Missense_Mutation_p.L573V|SYBU_uc003ynm.3_Missense_Mutation_p.L572V|SYBU_uc003ynn.3_Missense_Mutation_p.L572V|SYBU_uc010mcs.2_Missense_Mutation_p.L454V|SYBU_uc010mct.2_Missense_Mutation_p.L573V|SYBU_uc010mcu.2_Missense_Mutation_p.L572V|SYBU_uc003ynp.3_Missense_Mutation_p.L505V|SYBU_uc010mcv.2_Missense_Mutation_p.L573V|SYBU_uc003ynh.3_Missense_Mutation_p.L367V|SYBU_uc011lhw.1_Missense_Mutation_p.L443V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	573						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TCTCTCATGAGGCGGTTTGCA	0.547		NA											12	69					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:113256689C>A	uc003ynu.2	-	65	10495	c.10336G>T	c.(10336-10338)GGT>TGT	p.G3446C	CSMD3_uc003yns.2_Missense_Mutation_p.G2648C|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406C|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3446	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCTGTTCCACCTGCTAAGAAG	0.428		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	75					3.41e-10	4.25e-10	1	0
FER1L6	654463	broad.mit.edu	37	8	125061872	125061872	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:125061872A>G	uc003yqw.2	+	22	2955	c.2749A>G	c.(2749-2751)ACA>GCA	p.T917A	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	917	Cytoplasmic (Potential).|C2 3.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGGGTGCCACAGTGGCTGC	0.473		NA											14	49					0	0	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:142437153G>T	uc003ywg.1	+	3	647	c.313G>T	c.(313-315)GTG>TTG	p.V105L	PTP4A3_uc003ywh.1_Missense_Mutation_p.V105L|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682		NA											27	147					8.53e-09	1.03e-08	1	0
GPAA1	8733	broad.mit.edu	37	8	145140516	145140516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:145140516C>A	uc003zax.2	+	11	1602	c.1492C>A	c.(1492-1494)CTG>ATG	p.L498M		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	498	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGATGGCACTGAAGCTGGT	0.597		NA											30	97					4.75e-14	6.14e-14	1	0
TRPM3	80036	broad.mit.edu	37	9	73150933	73150933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:73150933C>A	uc004aid.2	-	25	5304	c.5060G>T	c.(5059-5061)AGC>ATC	p.S1687I	TRPM3_uc004ahu.2_Missense_Mutation_p.S1529I|TRPM3_uc004ahv.2_Missense_Mutation_p.S1489I|TRPM3_uc004ahw.2_Missense_Mutation_p.S1559I|TRPM3_uc004ahx.2_Missense_Mutation_p.S1546I|TRPM3_uc004ahy.2_Missense_Mutation_p.S1549I|TRPM3_uc004ahz.2_Missense_Mutation_p.S1536I|TRPM3_uc004aia.2_Missense_Mutation_p.S1534I|TRPM3_uc004aib.2_Missense_Mutation_p.S1524I|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1712	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CATGGACAGGCTGTCCCCTCG	0.522		NA											40	72					2.19e-29	3.02e-29	1	0
C9orf79	286234	broad.mit.edu	37	9	90502529	90502529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:90502529C>T	uc004app.3	+	4	3162	c.3127C>T	c.(3127-3129)CCA>TCA	p.P1043S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1043						integral to membrane				ovary(3)	3						GGAGAAGCCCCCAACTTGGGA	0.602		NA											9	60					0	0	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537073	90537073	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:90537073C>A	uc010mqi.2	+	4	2280	c.2251C>A	c.(2251-2253)CCG>ACG	p.P751T	FAM75C1_uc004apq.3_Missense_Mutation_p.P734T	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						CCAGAGGGCCCCGCGAGGGAT	0.547		NA											9	28					2.81e-09	3.41e-09	1	0
ABCA1	19	broad.mit.edu	37	9	107547893	107547893	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:107547893T>C	uc004bcl.2	-	49	6742	c.6429A>G	c.(6427-6429)GTA>GTG	p.V2143V	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2143	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCTATTCGTACAACTATTG	0.428		NA											11	63					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113163273	113163273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:113163273T>C	uc010mtz.2	-	40	10020	c.9683A>G	c.(9682-9684)GAG>GGG	p.E3228G	SVEP1_uc010mty.2_Missense_Mutation_p.E1154G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3228	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAATGGTGGCTCCCAGGTTCC	0.368		NA											14	29					0	0	0	0
PAPPA	5069	broad.mit.edu	37	9	119097340	119097340	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:119097340C>A	uc004bjn.2	+	13	3979	c.3598C>A	c.(3598-3600)CCT>ACT	p.P1200T	PAPPA_uc011lxp.1_Missense_Mutation_p.P895T|PAPPA_uc011lxq.1_Missense_Mutation_p.P575T	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1200					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GACCTACAGCCCTGCCGAGCA	0.617		NA											9	54					0.00829132	0.00853121	1	0
COL5A1	1289	broad.mit.edu	37	9	137704317	137704317	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:137704317A>G	uc004cfe.2	+	47	4095	c.3713A>G	c.(3712-3714)GAG>GGG	p.E1238G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1238	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCAGGCGAGAAGGGTGAG	0.527		NA											6	40					0	0	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734432	12734432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:12734432T>A	uc004cuz.1	+	15	2360	c.1854T>A	c.(1852-1854)TGT>TGA	p.C618*	FRMPD4_uc011mij.1_Nonsense_Mutation_p.C610*	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						AGGCCCCCTGTGAGGCAGACT	0.532		NA											47	30					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53672318	53672318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:53672318C>G	uc004dsp.2	-	7	851	c.449G>C	c.(448-450)CGT>CCT	p.R150P		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	150					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGATCCCAGACGAGTGATGTA	0.458		NA											16	14					0	0	0	0
HEPH	9843	broad.mit.edu	37	X	65480093	65480093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:65480093T>C	uc011moz.1	+	19	3257	c.3197T>C	c.(3196-3198)TTT>TCT	p.F1066S	HEPH_uc004dwn.2_Missense_Mutation_p.F1066S|HEPH_uc004dwo.2_Missense_Mutation_p.F796S|HEPH_uc010nkr.2_Missense_Mutation_p.F874S|HEPH_uc011mpa.1_Missense_Mutation_p.F1066S	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1063	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						TTCACTGTTTTTTCTCGAACA	0.473		NA											17	12					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76907828	76907828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:76907828C>G	uc004ecp.3	-	15	4565	c.4333G>C	c.(4333-4335)GAA>CAA	p.E1445Q	ATRX_uc004ecq.3_Missense_Mutation_p.E1407Q|ATRX_uc004eco.3_Missense_Mutation_p.E1230Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1445	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	tcctcctcttcttcctcAGAA	0.199		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						22	21					0	0	0	0
BEX4	56271	broad.mit.edu	37	X	102471104	102471104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:102471104C>A	uc004ejv.3	+	3	258	c.23C>A	c.(22-24)GCG>GAG	p.A8E	BEX4_uc004ejw.3_Missense_Mutation_p.A8E	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN	BEX family member 4	8						cytoplasm|nucleus				skin(1)	1						GAGGAACTAGCGGCAAACAAT	0.512		NA											20	21					7.21e-19	9.57e-19	1	0
ACSL4	2182	broad.mit.edu	37	X	108904779	108904779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:108904779T>C	uc004eoi.2	-	15	2306	c.1801A>G	c.(1801-1803)ATC>GTC	p.I601V	ACSL4_uc004eoj.2_Missense_Mutation_p.I560V|ACSL4_uc004eok.2_Missense_Mutation_p.I560V	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	601	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	AAAGCACAGATGTTGTCAATA	0.333		NA											22	19					0	0	0	0
ALG13	79868	broad.mit.edu	37	X	110951259	110951259	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:110951259C>G	uc011msy.1	+	4	422	c.388C>G	c.(388-390)CTG>GTG	p.L130V	ALG13_uc011msw.1_Missense_Mutation_p.L52V|ALG13_uc011msx.1_Missense_Mutation_p.L26V|ALG13_uc011msz.1_Missense_Mutation_p.L52V|ALG13_uc011mta.1_Missense_Mutation_p.L26V|ALG13_uc011mtb.1_Missense_Mutation_p.L26V			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	130					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TCACAGGGTCCTGACTTGTCC	0.512		NA											7	7					0	0	0	0
TRPC5	7224	broad.mit.edu	37	X	111097062	111097062	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:111097062T>A	uc004epl.1	-	4	2092	c.1173A>T	c.(1171-1173)ACA>ACT	p.T391T	TRPC5_uc004epm.1_Silent_p.T391T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	391	Extracellular (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CATGAAGGTCTGTCCTGACAA	0.483		NA											46	28					0	0	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967322	142967322	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:142967322T>A	uc004fca.2	+	1	150	c.120T>A	c.(118-120)GCT>GCA	p.A40A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	40							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTGCTGGGGAATCAA	0.473		NA											53	35					0	0	0	0
ATP2B3	492	broad.mit.edu	37	X	152807330	152807330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:152807330C>A	uc004fht.1	+	3	736	c.610C>A	c.(610-612)CTC>ATC	p.L204I	ATP2B3_uc004fhs.1_Missense_Mutation_p.L204I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	204	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCAGCTCCTCCAGGTCCC	0.622		NA											61	27					3.07e-27	4.21e-27	1	0
AMPD1	270	broad.mit.edu	37	1	115216688	115216688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:115216688delA	uc001efe.1	-	14	1900	c.1816delT	c.(1816-1818)TACfs	p.Y606fs	AMPD1_uc001eff.1_Frame_Shift_Del_p.Y602fs	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	606					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAACAAGTACTGTAGCACG	0.343		NA											10	75	---	---	---	---	NA	NA	NA	NA
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:154680586_154680588delGCT	uc001ffp.2	-	8	2374_2376	c.2060_2062delAGC	c.(2059-2064)CAGCTC>CTC	p.Q687del	KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	692	Poly-Gln.					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.64		NA											7	129	---	---	---	---	NA	NA	NA	NA
IL19	29949	broad.mit.edu	37	1	207010323	207010323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:207010323delA	uc001hep.2	+	4	1104	c.165delA	c.(163-165)CCAfs	p.P55fs	IL19_uc001heo.2_Frame_Shift_Del_p.P93fs|IL19_uc010prx.1_Frame_Shift_Del_p.P55fs	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 2 precursor	55					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCTTCCCAAATGTCACTA	0.418		NA											24	176	---	---	---	---	NA	NA	NA	NA
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:15646284delC	uc001ioc.1	-	20	2041	c.2041delG	c.(2041-2043)GAAfs	p.E681fs	ITGA8_uc010qcb.1_Frame_Shift_Del_p.E666fs	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	681	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TATGCTCCTTCCCCTTCATTT	0.358		NA											12	36	---	---	---	---	NA	NA	NA	NA
ANKRD30A	91074	broad.mit.edu	37	10	37508037	37508037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37508037delT	uc001iza.1	+	34	3328	c.3229delT	c.(3229-3231)TTTfs	p.F1077fs		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1133	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAATAAATACTTTGAGGACAT	0.333		NA											24	96	---	---	---	---	NA	NA	NA	NA
C10orf58	84293	broad.mit.edu	37	10	82187100	82187100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:82187100delG	uc001kcc.3	+	5	584	c.424delG	c.(424-426)GGTfs	p.G142fs	C10orf58_uc001kcd.3_Frame_Shift_Del_p.G131fs|C10orf58_uc001kce.3_Frame_Shift_Del_p.G142fs|C10orf58_uc001kcf.3_Frame_Shift_Del_p.G142fs	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293 precursor	142						extracellular region					0			Colorectal(32;0.229)			AAAGTTCTATGGTCCACAAAG	0.493		NA											36	116	---	---	---	---	NA	NA	NA	NA
ERBB3	2065	broad.mit.edu	37	12	56490314	56490319	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:56490314_56490319delAAGGCT	uc001sjh.2	+	18	2276_2281	c.2083_2088delAAGGCT	c.(2083-2088)AAGGCTdel	p.KA695del	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_In_Frame_Del_p.KA52del|ERBB3_uc010sqc.1_In_Frame_Del_p.KA636del|ERBB3_uc009zok.2_Splice_Site_p.K137_splice|ERBB3_uc001sjk.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	695_696	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCAGTGAGAAGGCTAACAAAGTCT	0.51		NA											48	163	---	---	---	---	NA	NA	NA	NA
ADCY4	196883	broad.mit.edu	37	14	24788954	24788954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:24788954delA	uc001wov.2	-	21	2733	c.2727delT	c.(2725-2727)TTTfs	p.F909fs	ADCY4_uc001wow.2_Frame_Shift_Del_p.F909fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.F595fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.F909fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.F909fs	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		TCACCTCATCAAAATCAGCAA	0.453		NA											27	52	---	---	---	---	NA	NA	NA	NA
TMX1	81542	broad.mit.edu	37	14	51713848	51713858	+	Frame_Shift_Del	DEL	GGACTAAGAAG	GGACTAAGAAG	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:51713848_51713858delGGACTAAGAAG	uc001wza.3	+	4	478_488	c.353_363delGGACTAAGAAG	c.(352-363)AGGACTAAGAAGfs	p.R118fs	TMX1_uc010aoa.2_Frame_Shift_Del_p.R34fs	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor	118_121	Thioredoxin.|Extracellular (Potential).				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						CAGGGTCCAAGGACTAAGAAGGACTTCATAA	0.351		NA											8	95	---	---	---	---	NA	NA	NA	NA
SLC9A5	6553	broad.mit.edu	37	16	67289038	67289043	+	In_Frame_Del	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:67289038_67289043delTCTTTA	uc002esm.2	+	3	668_673	c.605_610delTCTTTA	c.(604-612)CTCTTTATC>CTC	p.FI203del	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	203_204	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AATGAGACTCTCTTTATCATCGTCTT	0.583		NA											7	95	---	---	---	---	NA	NA	NA	NA
MYO19	80179	broad.mit.edu	37	17	34852240	34852241	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:34852240_34852241delTT	uc010wcy.1	-	27	3759_3760	c.2767_2768delAA	c.(2767-2769)AAGfs	p.K923fs	MYO19_uc002hmw.2_Frame_Shift_Del_p.K723fs|MYO19_uc010cuu.2_RNA|ZNHIT3_uc010cut.1_Intron	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	923	Mitochondrial targeting.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGTGAAACTTTATCGATCCC	0.495		NA											10	44	---	---	---	---	NA	NA	NA	NA
FSCN2	25794	broad.mit.edu	37	17	79503253	79503255	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79503253_79503255delGAA	uc010wup.1	+	3	1206_1208	c.1065_1067delGAA	c.(1063-1068)ATGAAG>ATG	p.K357del	FSCN2_uc010wuo.1_In_Frame_Del_p.K357del	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	357					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGTGTGCATGAAGAAGAATGGG	0.601		NA											5	5	---	---	---	---	NA	NA	NA	NA
SMCHD1	23347	broad.mit.edu	37	18	2703849	2703852	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:2703849_2703852delGAAT	uc002klm.3	+	13	1996_1999	c.1807_1810delGAAT	c.(1807-1812)GAATGGfs	p.E603fs	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	603_604					chromosome organization		ATP binding				0						TGCAGCAATAGAATGGGATGGAAA	0.284		NA											12	83	---	---	---	---	NA	NA	NA	NA
NOTCH3	4854	broad.mit.edu	37	19	15271836	15271836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15271836delG	uc002nan.2	-	33	6679	c.6603delC	c.(6601-6603)CCCfs	p.P2201fs		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	2201	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGGGGAGACGGGGGTCCCTG	0.741		NA											2	4	---	---	---	---	NA	NA	NA	NA
ZNF211	10520	broad.mit.edu	37	19	58152339	58152340	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58152339_58152340delCT	uc002qpq.2	+	3	665_666	c.485_486delCT	c.(484-486)CCTfs	p.P162fs	ZNF211_uc010yhb.1_Frame_Shift_Del_p.P166fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.P175fs|ZNF211_uc002qpr.2_Frame_Shift_Del_p.P226fs|ZNF211_uc002qps.2_Frame_Shift_Del_p.P227fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.P101fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.P153fs	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGAGGCACCTTTCAGAAGTT	0.47		NA											25	58	---	---	---	---	NA	NA	NA	NA
RNF181	51255	broad.mit.edu	37	2	85824002	85824006	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:85824002_85824006delTGCCT	uc002spv.1	+	3	325_329	c.275_279delTGCCT	c.(274-279)ATGCCTfs	p.M92fs		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	ring finger protein 181	92_93	RING-type; atypical.						ligase activity|zinc ion binding				0						GCCATTGAGATGCCTTGCCATCACC	0.532		NA											15	194	---	---	---	---	NA	NA	NA	NA
ALPP	250	broad.mit.edu	37	2	233243704	233243716	+	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TGGAACCGCGAGG	-	rs61747708	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:233243704_233243716delTGGAACCGCGAGG	uc002vsq.2	+	2	265_277	c.100_112delTGGAACCGCGAGG	c.(100-114)TGGAACCGCGAGGCAfs	p.W34fs	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	34_38						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC	0.634		NA											11	96	---	---	---	---	NA	NA	NA	NA
CHEK2	11200	broad.mit.edu	37	22	29095857	29095867	+	Frame_Shift_Del	DEL	AGCTTGCAGGT	AGCTTGCAGGT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:29095857_29095867delAGCTTGCAGGT	uc003adu.1	-	9	1039_1049	c.967_977delACCTGCAAGCT	c.(967-978)ACCTGCAAGCTCfs	p.T323fs	CHEK2_uc003ads.1_Frame_Shift_Del_p.T102fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.T232fs|CHEK2_uc010gvi.1_Frame_Shift_Del_p.T323fs|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.T366fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.T102fs|CHEK2_uc003ady.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.T127fs	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	323_326	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC	0.464		NA	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				48	124	---	---	---	---	NA	NA	NA	NA
CDH9	1007	broad.mit.edu	37	5	26988405	26988405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:26988405delC	uc003jgs.1	-	2	205	c.36delG	c.(34-36)TGGfs	p.W12fs	CDH9_uc010iug.2_Frame_Shift_Del_p.W12fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	12					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						ACATATAGGTCCAGATGAATA	0.348		NA											7	84	---	---	---	---	NA	NA	NA	NA
LIN28B	389421	broad.mit.edu	37	6	105474345	105474346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:105474345_105474346insA	uc003pqv.1	+	3	574_575	c.371_372insA	c.(370-372)CCAfs	p.P124fs	LIN28B_uc010kda.1_Frame_Shift_Ins_p.P84fs	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	124					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAAAGAAAACCAAAGGGAGATA	0.376		NA											25	83	---	---	---	---	NA	NA	NA	NA
EPHA1	2041	broad.mit.edu	37	7	143095840	143095841	+	Frame_Shift_Ins	INS	-	-	G	rs143087087		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:143095840_143095841insG	uc003wcz.2	-	6	1276_1277	c.1189_1190insC	c.(1189-1191)CGGfs	p.R397fs		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	397	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTGAGCCCCCGGGCCCCCGGC	0.614		NA											13	41	---	---	---	---	NA	NA	NA	NA
