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
SKI	6497	broad.mit.edu	37	1	2160689	2160689	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:2160689A>T	uc001aja.3	+	1	556	c.484A>T	c.(484-486)AAA>TAA	p.K162*		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	162					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGATCCTCAAAGTCATGGG	0.662		NA											17	5					0	0	0	0
CHD5	26038	broad.mit.edu	37	1	6188634	6188634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:6188634T>A	uc001amb.1	-	24	3755	c.3655A>T	c.(3655-3657)ATC>TTC	p.I1219F	CHD5_uc001alz.1_Missense_Mutation_p.I76F|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1219					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATCAGGGATGGGTGTGACC	0.632		NA											21	47					0	0	0	0
NMNAT1	64802	broad.mit.edu	37	1	10035807	10035807	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:10035807G>T	uc001aqp.2	+	3	417	c.273G>T	c.(271-273)GAG>GAT	p.E91D		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	nicotinamide mononucleotide adenylyltransferase	91					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGAAGGAGTGGAAAGAGA	0.393		NA											46	103					2.72e-11	3.46e-11	1	0
TMEM82	388595	broad.mit.edu	37	1	16073407	16073407	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:16073407T>C	uc001axc.2	+	5	941	c.803T>C	c.(802-804)GTG>GCG	p.V268A		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	268	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCAGACGGTGCTGGTGCGC	0.682		NA											17	10					0	0	0	0
CAPZB	832	broad.mit.edu	37	1	19712005	19712005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:19712005G>T	uc010ocz.1	-	3	724	c.296C>A	c.(295-297)TCC>TAC	p.S99Y	CAPZB_uc001bce.2_Missense_Mutation_p.S70Y|CAPZB_uc009vpk.2_Missense_Mutation_p.S96Y|CAPZB_uc001bcd.2_Missense_Mutation_p.S58Y	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TCACCTATAGGAGTCCCCATC	0.572		NA											17	52					9.17e-09	1.13e-08	1	0
HSPG2	3339	broad.mit.edu	37	1	22205106	22205106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:22205106G>A	uc001bfj.2	-	19	2562	c.2522C>T	c.(2521-2523)GCC>GTC	p.A841V	HSPG2_uc009vqd.2_Missense_Mutation_p.A842V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	841	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGGGCACAGGCGTCACATGT	0.627		NA											14	21					0	0	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379547	36379547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:36379547C>T	uc001bzl.2	+	13	1900	c.1687C>T	c.(1687-1689)CTC>TTC	p.L563F	EIF2C1_uc001bzk.2_Missense_Mutation_p.L488F|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	563	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAACCTCTGCCTCAAGATCAA	0.507		NA											62	117					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39720017	39720017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:39720017G>T	uc010ois.1	+	6	625	c.420G>T	c.(418-420)CAG>CAT	p.Q140H	MACF1_uc001cda.1_Missense_Mutation_p.Q48H|MACF1_uc010oit.1_Missense_Mutation_p.Q103H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	140	Actin-binding.|CH 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATGTGCAGATTGCCCTGG	0.478		NA											35	80					4.34e-07	5.2e-07	1	0
LEPRE1	64175	broad.mit.edu	37	1	43228142	43228142	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:43228142T>C	uc001chv.2	-	2	583	c.470A>G	c.(469-471)AAC>AGC	p.N157S	LEPRE1_uc001chw.2_Missense_Mutation_p.N157S|LEPRE1_uc001chx.3_Missense_Mutation_p.N157S|LEPRE1_uc001chy.3_Missense_Mutation_p.N157S	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	157	TPR 2.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCAACTTGTTGATCTAAGA	0.458		NA											46	92					0	0	0	0
USP24	23358	broad.mit.edu	37	1	55599818	55599818	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:55599818C>T	uc001cyg.3	-	27	2826	c.2826G>A	c.(2824-2826)CGG>CGA	p.R942R		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1102					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GCAGAAGCTTCCGTACTCGTA	0.333		NA											18	32					0	0	0	0
C1orf168	199920	broad.mit.edu	37	1	57257960	57257960	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57257960C>A	uc001cym.3	-	2	932	c.526G>T	c.(526-528)GGG>TGG	p.G176W	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.G176W	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	176										ovary(3)|skin(2)	5						GGAGTAAGCCCCATGCCTTTT	0.488		NA											66	120					1.17e-41	1.74e-41	1	0
C8B	732	broad.mit.edu	37	1	57420448	57420448	+	Missense_Mutation	SNP	G	G	C	rs151302643	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57420448G>C	uc001cyp.2	-	4	511	c.444C>G	c.(442-444)GAC>GAG	p.D148E	C8B_uc010oon.1_Missense_Mutation_p.D86E|C8B_uc010ooo.1_Missense_Mutation_p.D96E	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	148	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						CATCTGACTGGTCTCCACAGT	0.448		NA											39	98					0	0	0	0
DOCK7	85440	broad.mit.edu	37	1	62954718	62954718	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:62954718C>A	uc001daq.2	-	42	5387	c.5353G>T	c.(5353-5355)GTT>TTT	p.V1785F	DOCK7_uc001dan.2_Missense_Mutation_p.V1646F|DOCK7_uc001dao.2_Missense_Mutation_p.V1646F|DOCK7_uc001dap.2_Missense_Mutation_p.V1763F|DOCK7_uc001dam.2_Missense_Mutation_p.V965F|DOCK7_uc010oov.1_Missense_Mutation_p.V524F	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1794	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						ACTTCATTAACTGCTTCATAC	0.299		NA											16	47					4.15e-12	5.33e-12	1	0
TNNI3K	51086	broad.mit.edu	37	1	75005943	75005943	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:75005943C>A	uc001dgf.1	+	24	2428	c.2377C>A	c.(2377-2379)CTG>ATG	p.L793M	TNNI3K_uc001dge.1_Missense_Mutation_p.L894M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	793						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CTCTCAAGGTCTGTCTTTGGA	0.348		NA											22	61					5.35e-11	6.76e-11	1	0
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:78429830C>A	uc001dii.2	-	12	1047	c.958G>T	c.(958-960)GAA>TAA	p.E320*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.E341*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						GCTATCCTTTCGGGTGTTGTC	0.348		NA											70	161					8.65e-54	1.3e-53	1	0
COL24A1	255631	broad.mit.edu	37	1	86591713	86591713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:86591713C>A	uc001dlj.2	-	3	348	c.306G>T	c.(304-306)TTG>TTT	p.L102F	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.L102F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	102	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACGGCTGCCCCAAGTTGACTG	0.388		NA											39	76					2.29e-25	3.29e-25	1	0
GBP5	115362	broad.mit.edu	37	1	89726431	89726431	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:89726431C>A	uc001dnc.2	-	12	2254	c.1717G>T	c.(1717-1719)GCC>TCC	p.A573S	GBP5_uc001dnd.2_Missense_Mutation_p.A573S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	573						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCTCTGGGCGTGCTGGAGC	0.403		NA											53	165					4.33e-36	6.4e-36	1	0
COL11A1	1301	broad.mit.edu	37	1	103343706	103343706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:103343706C>A	uc001dul.2	-	67	5608	c.5290G>T	c.(5290-5292)GAA>TAA	p.E1764*	COL11A1_uc001duk.2_Nonsense_Mutation_p.E960*|COL11A1_uc001dum.2_Nonsense_Mutation_p.E1776*|COL11A1_uc001dun.2_Nonsense_Mutation_p.E1725*|COL11A1_uc009weh.2_Nonsense_Mutation_p.E1648*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1764	Fibrillar collagen NC1.				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)		ACAGTCTTTTCATAGCCTTTT	0.303		NA											12	57					3.07e-06	3.59e-06	1	0
WDR3	10885	broad.mit.edu	37	1	118481110	118481110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:118481110G>A	uc010oxe.1	+	5	574	c.508G>A	c.(508-510)GAT>AAT	p.D170N	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	170	WD 4.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAGTGGGAAAGATACCATGGT	0.423		NA											27	67					0	0	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879382	144879382	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:144879382C>A	uc001elw.3	-	27	4359	c.4068G>T	c.(4066-4068)AAG>AAT	p.K1356N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.K1312N|PDE4DIP_uc001elv.3_Missense_Mutation_p.K363N	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1356	Potential.			K -> R (in Ref. 4; CAD91152).	cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTTGATGTCCTTTCGTAGGA	0.493		NA	T	PDGFRB	MPD								74	398					8.08e-42	1.2e-41	1	0
TDRD10	126668	broad.mit.edu	37	1	154516995	154516995	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154516995T>A	uc009wow.2	+	10	1635	c.797_splice	c.e10+2	p.R266_splice	TDRD10_uc001ffd.2_Splice_Site_p.R266_splice|TDRD10_uc001ffe.2_Splice_Site_p.R187_splice	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a								nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAACAGGTGTGTGCCTGG	0.587		NA											5	14					0	0	0	0
PYGO2	90780	broad.mit.edu	37	1	154931794	154931794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154931794G>A	uc001fft.2	-	3	888	c.682C>T	c.(682-684)CAG>TAG	p.Q228*		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	228	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGTCTCTGGAGAGGAGAA	0.637		NA											7	39					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155340374	155340374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155340374C>A	uc009wqq.2	-	12	7102	c.6622G>T	c.(6622-6624)GTG>TTG	p.V2208L	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.V2203L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2208	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGTCAATCACCATCCCACTA	0.418		NA											66	100					6.75e-32	9.86e-32	1	0
YY1AP1	55249	broad.mit.edu	37	1	155629663	155629663	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155629663C>A	uc001fln.2	-	11	2200	c.2176G>T	c.(2176-2178)GGG>TGG	p.G726W	YY1AP1_uc001flg.2_Missense_Mutation_p.G465W|YY1AP1_uc010pgg.1_Missense_Mutation_p.G565W|YY1AP1_uc010pgh.1_Missense_Mutation_p.G669W|YY1AP1_uc010pgi.1_Missense_Mutation_p.G818W|YY1AP1_uc001flh.2_Missense_Mutation_p.G798W|YY1AP1_uc009wqt.2_Missense_Mutation_p.G649W|YY1AP1_uc001flk.2_Missense_Mutation_p.G669W|YY1AP1_uc001fll.2_Missense_Mutation_p.G680W|YY1AP1_uc009wqv.2_Missense_Mutation_p.G397W|YY1AP1_uc001flm.2_Missense_Mutation_p.G669W|YY1AP1_uc001fli.2_Missense_Mutation_p.G680W|YY1AP1_uc009wqu.2_Missense_Mutation_p.G513W|YY1AP1_uc001flj.2_Missense_Mutation_p.G660W|YY1AP1_uc009wqw.2_Missense_Mutation_p.G649W|YY1AP1_uc001flo.2_Missense_Mutation_p.G614W|YY1AP1_uc001flp.2_Missense_Mutation_p.G680W	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	726					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTGGAGGCCCTGGGCTATGT	0.512		NA											19	83					1.5e-11	1.92e-11	1	0
NES	10763	broad.mit.edu	37	1	156639196	156639196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:156639196G>A	uc001fpq.2	-	4	4917	c.4784C>T	c.(4783-4785)CCT>CTT	p.P1595L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1595	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGTGAACAGGAGCCCCTGC	0.597		NA											38	79					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176853475	176853475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853475C>A	uc001glc.2	-	19	3438	c.3226G>T	c.(3226-3228)GAA>TAA	p.E1076*	ASTN1_uc001glb.1_Nonsense_Mutation_p.E1076*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1076*	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1084	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGGTGCTCACCTGTCTCCACT	0.493		NA											43	90					7.71e-36	1.14e-35	1	0
ASTN1	460	broad.mit.edu	37	1	176853589	176853589	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853589G>C	uc001glc.2	-	19	3324	c.3112C>G	c.(3112-3114)CTT>GTT	p.L1038V	ASTN1_uc001glb.1_Missense_Mutation_p.L1038V|ASTN1_uc001gld.1_Missense_Mutation_p.L1038V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1046	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGGACCACAAGAGTGCTGCTG	0.542		NA											36	64					0	0	0	0
FAM5B	57795	broad.mit.edu	37	1	177247890	177247890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:177247890C>T	uc001glf.2	+	7	1516	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C	FAM5B_uc010pna.1_Missense_Mutation_p.R152C|FAM5B_uc001glg.2_Missense_Mutation_p.R297C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	402						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCGCTGCCATCGCCAGCCTCG	0.617		NA											11	57					0	0	0	0
LHX4	89884	broad.mit.edu	37	1	180240538	180240538	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:180240538C>G	uc001goe.1	+	4	698	c.475C>G	c.(475-477)CGG>GGG	p.R159G	uc001gof.1_RNA	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	159	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TGGAGCTAAGCGGCCCCGGAC	0.587		NA											15	97					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	185833728	185833728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185833728G>C	uc001grq.1	+	3	695	c.466G>C	c.(466-468)GTG>CTG	p.V156L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	156	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACCCATGAGGTGCTGCAACT	0.418		NA											13	27					0	0	0	0
REN	5972	broad.mit.edu	37	1	204131245	204131245	+	Silent	SNP	G	G	T	rs121917741		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:204131245G>T	uc001haq.2	-	2	189	c.145C>A	c.(145-147)CGA>AGA	p.R49R		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	49					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCCACACCTCGTTCCTTCAGG	0.542		NA									OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0.000673444	0.000732053	1	0
ELK4	2005	broad.mit.edu	37	1	205585757	205585757	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:205585757T>C	uc001hcy.1	-	5	2463	c.1213A>G	c.(1213-1215)AAC>GAC	p.N405D		NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	405						cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCATGACTGTTCAGTACAGAA	0.438		NA	T	SLC45A3	prostate								22	85					0	0	0	0
C1orf116	79098	broad.mit.edu	37	1	207196627	207196627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:207196627G>A	uc001hfd.2	-	4	741	c.482C>T	c.(481-483)CCG>CTG	p.P161L	C1orf116_uc009xcb.1_5'UTR	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	161						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					AAGCCTCCCCGGTTCTCCAGG	0.602		NA											40	81					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214542973	214542973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214542973G>C	uc001hkk.1	-	17	3369	c.3098C>G	c.(3097-3099)GCC>GGC	p.A1033G		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1033	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATAGGTGGCTGAGCTGTG	0.468		NA											61	240					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214557726	214557726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214557726C>T	uc001hkk.1	-	13	1743	c.1472G>A	c.(1471-1473)CGG>CAG	p.R491Q	PTPN14_uc010pty.1_Missense_Mutation_p.R392Q	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	491					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTGCCTCTCCCGCATCTCCGG	0.522		NA											54	193					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216258096	216258096	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:216258096T>G	uc001hku.1	-	25	5498	c.5111A>C	c.(5110-5112)AAC>ACC	p.N1704T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1704	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGCTGTTATACACGTT	0.418		NA								HNSCC(13;0.011)			25	134					0	0	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452395	234452395	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:234452395C>T	uc001hwa.1	+	4	897	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	SLC35F3_uc001hvy.1_Silent_p.Y292Y	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	223	Helical; (Potential).				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)			TGATGACCTACGCTGATGGCT	0.587		NA											45	86					0	0	0	0
RBM34	23029	broad.mit.edu	37	1	235295239	235295239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:235295239C>T	uc001hwn.2	-	11	1112	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	TOMM20_uc001hwl.2_5'Flank|RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	361	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTAACAGAACGCATGACTCT	0.313		NA											15	82					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237969512	237969512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:237969512C>A	uc001hyl.1	+	99	14347	c.14227C>A	c.(14227-14229)CTT>ATT	p.L4743I	RYR2_uc010pyb.1_Missense_Mutation_p.L176I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCGCTCACCTTCTCGACAT	0.413		NA											16	55					2.32e-09	2.88e-09	1	0
TRIM58	25893	broad.mit.edu	37	1	248039216	248039216	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248039216G>T	uc001ido.2	+	6	934	c.886G>T	c.(886-888)GAT>TAT	p.D296Y	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	296	B30.2/SPRY.					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)			TGTAAAGCTGGATCCCGCCAC	0.542		NA											9	61					1.13e-05	1.3e-05	1	0
OR2L2	26246	broad.mit.edu	37	1	248202460	248202460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248202460G>A	uc001idw.2	+	1	987	c.891G>A	c.(889-891)ATG>ATA	p.M297I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGGAGGTGATGGGGGCCCTGA	0.453		NA											17	94					0	0	0	0
OR2L13	284521	broad.mit.edu	37	1	248262808	248262808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248262808T>C	uc001ids.2	+	3	468	c.131T>C	c.(130-132)ATG>ACG	p.M44T		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AACTCGGCCATGATTCACCTC	0.488		NA											38	146					0	0	0	0
OR2M4	26245	broad.mit.edu	37	1	248402915	248402915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248402915G>A	uc010pzh.1	+	1	685	c.685G>A	c.(685-687)GGC>AGC	p.G229S		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCACATGGGCTCTGGGGA	0.483		NA											24	33					0	0	0	0
OR2G6	391211	broad.mit.edu	37	1	248685532	248685532	+	Missense_Mutation	SNP	C	C	A	rs77917888	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248685532C>A	uc001ien.1	+	1	585	c.585C>A	c.(583-585)AAC>AAA	p.N195K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGACTTTCAACGAGGCAGAAC	0.473		NA											20	54					1.55e-18	2.14e-18	1	0
OR2T11	127077	broad.mit.edu	37	1	248790373	248790373	+	Missense_Mutation	SNP	C	C	A	rs148036216	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248790373C>A	uc001ier.1	-	1	57	c.57G>T	c.(55-57)GAG>GAT	p.E19D		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCGGCAGCCTCACTGTTCA	0.527		NA											21	18					2.39e-15	3.18e-15	1	0
ZEB1	6935	broad.mit.edu	37	10	31816121	31816121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:31816121G>T	uc001ivs.3	+	9	3367	c.3304G>T	c.(3304-3306)GCA>TCA	p.A1102S	ZEB1_uc001ivr.3_Missense_Mutation_p.A884S|ZEB1_uc010qee.1_Missense_Mutation_p.A884S|ZEB1_uc010qef.1_Missense_Mutation_p.A884S|ZEB1_uc001ivt.3_Missense_Mutation_p.A884S|ZEB1_uc001ivu.3_Missense_Mutation_p.A1103S|ZEB1_uc001ivv.3_Missense_Mutation_p.A1082S|ZEB1_uc010qeh.1_Missense_Mutation_p.A1035S|ZEB1_uc009xlp.2_Missense_Mutation_p.A1086S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1102	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TGAAAGTCAAGCAAGCAGCTT	0.284		NA											16	25					1.34e-09	1.66e-09	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49763518	49763518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:49763518C>A	uc001jgt.2	-	3	609	c.312G>T	c.(310-312)GAG>GAT	p.E104D	ARHGAP22_uc001jgu.2_Missense_Mutation_p.E104D|ARHGAP22_uc010qgl.1_Missense_Mutation_p.E104D|ARHGAP22_uc010qgm.1_Missense_Mutation_p.E110D|ARHGAP22_uc001jgv.2_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	104	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						CTGGGCTGATCTCAAAGAGGT	0.577		NA											47	108					2.56e-31	3.72e-31	1	0
OGDHL	55753	broad.mit.edu	37	10	50946031	50946031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:50946031C>A	uc001jie.2	-	19	2621	c.2479G>T	c.(2479-2481)GTG>TTG	p.V827L	OGDHL_uc009xog.2_Missense_Mutation_p.V854L|OGDHL_uc010qgt.1_Missense_Mutation_p.V770L|OGDHL_uc010qgu.1_Missense_Mutation_p.V618L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	827					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CGGCGCAGCACGTGGAAGTAG	0.652		NA											70	169					1.79e-35	2.64e-35	1	0
PCDH15	65217	broad.mit.edu	37	10	56077052	56077052	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:56077052G>T	uc001jju.1	-	8	1250	c.855C>A	c.(853-855)GCC>GCA	p.A285A	PCDH15_uc010qhq.1_Silent_p.A290A|PCDH15_uc010qhr.1_Silent_p.A285A|PCDH15_uc010qhs.1_Silent_p.A290A|PCDH15_uc010qht.1_Silent_p.A285A|PCDH15_uc010qhu.1_Silent_p.A285A|PCDH15_uc001jjv.1_Silent_p.A263A|PCDH15_uc010qhv.1_Silent_p.A285A|PCDH15_uc010qhw.1_Silent_p.A248A|PCDH15_uc010qhx.1_Silent_p.A285A|PCDH15_uc010qhy.1_Silent_p.A290A|PCDH15_uc010qhz.1_Silent_p.A285A|PCDH15_uc010qia.1_Silent_p.A263A|PCDH15_uc010qib.1_Silent_p.A263A|PCDH15_uc001jjw.2_Silent_p.A285A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	285	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTCAGGTATGGCAGCTTGAT	0.413		NA								HNSCC(58;0.16)			29	34					9.65e-13	1.25e-12	1	0
CTNNA3	29119	broad.mit.edu	37	10	68280484	68280484	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:68280484C>A	uc009xpn.1	-	11	1545	c.1422G>T	c.(1420-1422)GCG>GCT	p.A474A	CTNNA3_uc001jmw.2_Silent_p.A474A|CTNNA3_uc001jmx.3_Silent_p.A474A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	474					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TGTTTTTGACCGCTTGACTTT	0.313		NA											43	94					3.71e-28	5.37e-28	1	0
GHITM	27069	broad.mit.edu	37	10	85901368	85901368	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:85901368C>T	uc001kcs.1	+	2	316	c.112C>T	c.(112-114)CTG>TTG	p.L38L	GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	38					apoptosis	integral to membrane|mitochondrial inner membrane					0						GAATCAATGGCTGTTAACACC	0.448		NA											55	128					0	0	0	0
PKD2L1	9033	broad.mit.edu	37	10	102050189	102050189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:102050189C>A	uc001kqx.1	-	13	2478	c.2095G>T	c.(2095-2097)GGA>TGA	p.G699*	PKD2L1_uc009xwm.1_Nonsense_Mutation_p.G652*	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	699	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACCCAGCCTCCTGCTCTGGCA	0.517		NA											17	41					7.21e-19	9.94e-19	1	0
MKI67	4288	broad.mit.edu	37	10	129904753	129904753	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:129904753G>A	uc001lke.2	-	13	5546	c.5351C>T	c.(5350-5352)ACA>ATA	p.T1784I	MKI67_uc001lkf.2_Missense_Mutation_p.T1424I|MKI67_uc009yav.1_Missense_Mutation_p.T1359I|MKI67_uc009yaw.1_Missense_Mutation_p.T934I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1784	7.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTGCATGGC	0.468		NA											86	209					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135011840	135011841	+	Splice_Site	DNP	GG	GG	TT			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011840_135011841GG>TT	uc001llz.1	+	13	1908	c.1907_splice	c.e13-1	p.G636_splice	KNDC1_uc001lma.1_Splice_Site_p.G571_splice|KNDC1_uc001lmb.1_Splice_Site_p.G48_splice	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGCTCCCCAGGCTTCCTGCCG	0.723		NA											5	9					0	0	0	0
MUC6	4588	broad.mit.edu	37	11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:1016760G>T	uc001lsw.2	-	31	6092	c.6041C>A	c.(6040-6042)ACC>AAC	p.T2014N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2014	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAAGGAGGTGGAGAAAGG	0.537		NA											46	630					1.97e-11	2.51e-11	1	0
CHRNA10	57053	broad.mit.edu	37	11	3688905	3688905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:3688905C>G	uc001lyf.2	-	4	524	c.452G>C	c.(451-453)CGC>CCC	p.R151P	CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	151	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACGAGCTGCGCGTGATGGC	0.711		NA											5	17					0	0	0	0
OR51V1	283111	broad.mit.edu	37	11	5221655	5221655	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5221655C>T	uc010qyz.1	-	1	276	c.276G>A	c.(274-276)GGG>GGA	p.G92G		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGGATCCCCAGCACTG	0.547		NA											24	58					0	0	0	0
TRIM22	10346	broad.mit.edu	37	11	5717794	5717794	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5717794A>G	uc001mbr.2	+	2	609	c.332A>G	c.(331-333)GAT>GGT	p.D111G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.D111G|TRIM22_uc009yes.2_Missense_Mutation_p.D111G|TRIM22_uc010qzm.1_Missense_Mutation_p.M17V|TRIM22_uc009yeu.2_5'UTR	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	111	B box-type.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTAAGGAGGATGGAAAAGTC	0.483		NA											31	56					0	0	0	0
OR56A1	120796	broad.mit.edu	37	11	6048725	6048725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6048725G>A	uc010qzw.1	-	1	210	c.210C>T	c.(208-210)CTC>CTT	p.L70L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGAGGCTGAGCAGGTAGT	0.597		NA											26	70					0	0	0	0
OR6A2	8590	broad.mit.edu	37	11	6815970	6815970	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6815970T>C	uc001mes.1	-	1	1170	c.970A>G	c.(970-972)AGC>GGC	p.S324G		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	324	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATTTCTGCTAGCTTTCTTG	0.443		NA											19	81					0	0	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17169081	17169081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:17169081G>C	uc001mmq.3	-	5	1609	c.1543C>G	c.(1543-1545)CAA>GAA	p.Q515E	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Q135E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.Q515E|PIK3C2A_uc009ygv.1_Missense_Mutation_p.Q515E	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	515					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GCCAGATTTTGACACATTGCA	0.358		NA											15	43					0	0	0	0
OR4X2	119764	broad.mit.edu	37	11	48267094	48267094	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:48267094C>T	uc001ngs.1	+	1	439	c.439C>T	c.(439-441)CAT>TAT	p.H147Y		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGCTTCATGCATTCCTTTGC	0.498		NA											68	129					0	0	0	0
OR4C46	119749	broad.mit.edu	37	11	51515641	51515641	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:51515641C>T	uc010ric.1	+	1	360	c.360C>T	c.(358-360)CAC>CAT	p.H120H		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTATGACCACTATGTGGCCA	0.488		NA											60	88					0	0	0	0
OR4A16	81327	broad.mit.edu	37	11	55110944	55110944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55110944A>G	uc010rie.1	+	1	268	c.268A>G	c.(268-270)ATT>GTT	p.I90V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TAAAATCGCTATTTCCTTGTC	0.438		NA											95	111					0	0	0	0
OR5D13	390142	broad.mit.edu	37	11	55540998	55540998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55540998C>A	uc010ril.1	+	1	85	c.85C>A	c.(85-87)CTC>ATC	p.L29I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				CCAGGTTCCACTCTTTCTGGT	0.393		NA											56	67					3.53e-34	5.18e-34	1	0
OR5T2	219464	broad.mit.edu	37	11	55999771	55999771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55999771C>A	uc010rjc.1	-	1	891	c.891G>T	c.(889-891)ATG>ATT	p.M297I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	297	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTCTCACATACATGAAGAGGA	0.423		NA											75	91					7.58e-32	1.1e-31	1	0
P2RX3	5024	broad.mit.edu	37	11	57114095	57114095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:57114095G>T	uc001nju.2	+	2	273	c.197G>T	c.(196-198)GGC>GTC	p.G66V		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	66	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						AAGGTGAAGGGCTCCGGACTC	0.547		NA											92	41					4.37e-21	6.16e-21	1	0
OR5B17	219965	broad.mit.edu	37	11	58125729	58125729	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:58125729C>A	uc010rke.1	-	1	814	c.814G>T	c.(814-816)GCA>TCA	p.A272S		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCAATTTTGTCT	0.398		NA											104	68					3.92e-71	5.95e-71	1	0
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:59224522T>A	uc010rku.1	+	1	89	c.89T>A	c.(88-90)GTC>GAC	p.V30D		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTGTTTGTGGTCTTCTTTGCT	0.463		NA											92	119					0	0	0	0
RELA	5970	broad.mit.edu	37	11	65422031	65422031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65422031T>G	uc001ofg.2	-	11	1614	c.1474A>C	c.(1474-1476)ATG>CTG	p.M492L	RELA_uc001ofh.2_Missense_Mutation_p.M489L|RELA_uc010ron.1_Missense_Mutation_p.M503L|RELA_uc009yqr.2_Missense_Mutation_p.M439L|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	492					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TCCATCAGCATGGGCTCAGTT	0.597		NA											34	138					0	0	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638688	65638688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65638688C>T	uc001ofy.3	-	4	501	c.307G>A	c.(307-309)GCT>ACT	p.A103T	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.A103T	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	103				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).	blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGGTGTTGAGCGGGAGGCACT	0.652		NA											35	121					0	0	0	0
CLPB	81570	broad.mit.edu	37	11	72004448	72004448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:72004448G>A	uc001osj.2	-	17	2137	c.2087C>T	c.(2086-2088)GCA>GTA	p.A696V	CLPB_uc010rqx.1_Missense_Mutation_p.A651V|CLPB_uc010rqy.1_Missense_Mutation_p.A637V|CLPB_uc001osk.2_Missense_Mutation_p.A666V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A495V|CLPB_uc001osi.2_Missense_Mutation_p.A304V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	696					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						GTGCAGTGGTGCCCGGATGTC	0.602		NA											36	153					0	0	0	0
TYR	7299	broad.mit.edu	37	11	88911460	88911460	+	Silent	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:88911460A>C	uc001pcs.2	+	1	421	c.339A>C	c.(337-339)ACA>ACC	p.T113T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	113	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAAACTGCACAGAGAGACGAC	0.463		NA							Oculocutaneous_Albinism				27	39					0	0	0	0
GRIA4	2893	broad.mit.edu	37	11	105623920	105623920	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:105623920T>C	uc001pix.2	+	4	907	c.461T>C	c.(460-462)TTT>TCT	p.F154S	GRIA4_uc001piu.1_Missense_Mutation_p.F154S|GRIA4_uc001piw.2_Missense_Mutation_p.F154S|GRIA4_uc001piv.2_Missense_Mutation_p.F154S|GRIA4_uc009yxk.1_Missense_Mutation_p.F154S	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	154	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGAACTGTTTTGTCTTCCTG	0.433		NA											46	58					0	0	0	0
WNK1	65125	broad.mit.edu	37	12	993327	993327	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:993327G>A	uc001qio.3	+	18	4269	c.3762G>A	c.(3760-3762)GCG>GCA	p.A1254A	WNK1_uc001qip.3_Silent_p.A1007A|WNK1_uc001qir.3_Silent_p.A427A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1254					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCATTCTGCGGGAAGGCGGT	0.373		NA											62	137					0	0	0	0
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:4764024G>A	uc001qnc.2	+	3	264	c.254G>A	c.(253-255)CGG>CAG	p.R85Q	NDUFA9_uc009zei.1_Missense_Mutation_p.R85Q	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403		NA											4	82					0	0	0	0
C1R	715	broad.mit.edu	37	12	7241888	7241888	+	Splice_Site	SNP	C	C	T	rs112305412		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:7241888C>T	uc010sfy.1	-	5	827	c.768_splice	c.e5+1	p.Q256_splice	C1R_uc010sfz.1_Splice_Site_p.Q270_splice|C1R_uc010sga.1_Splice_Site_p.Q222_splice	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACGGCTGTACCTGTAGCTGG	0.592		NA											13	20					0	0	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083212	8083212	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:8083212C>A	uc001qtr.2	-	5	799	c.537G>T	c.(535-537)GGG>GGT	p.G179G	SLC2A3_uc001qts.2_Silent_p.G179G	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	179	Extracellular (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		GCTCTTCAGACCCAAGGATGA	0.433		NA											25	92					5.45e-15	7.23e-15	1	0
PHC1	1911	broad.mit.edu	37	12	9089872	9089872	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:9089872C>T	uc001qvd.2	+	13	2734	c.2578C>T	c.(2578-2580)CGC>TGC	p.R860C	PHC1_uc001qve.2_Missense_Mutation_p.R860C	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	860					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TGGACCCCGCCGCAGCTCCTC	0.522		NA											5	11					0	0	0	0
KLRC3	3823	broad.mit.edu	37	12	10569334	10569334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:10569334C>T	uc001qyf.2	-	5	564	c.519G>A	c.(517-519)TGG>TGA	p.W173*	KLRC3_uc001qyh.2_Nonsense_Mutation_p.W173*|KLRC3_uc001qyi.1_Nonsense_Mutation_p.W173*	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	173	C-type lectin.|Extracellular (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						ACACACCAATCCATGAGGAAG	0.289		NA											25	41					0	0	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244286	11244286	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11244286C>T	uc001qzq.1	-	1	627	c.543G>A	c.(541-543)ATG>ATA	p.M181I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	181	Helical; Name=5; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCTACCATGGTTACAG	0.368		NA											59	50					0	0	0	0
PRB1	5542	broad.mit.edu	37	12	11506661	11506661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506661C>T	uc001qzw.1	-	3	413	c.376G>A	c.(376-378)GGC>AGC	p.G126S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	187	7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCTGTTGCCTCCTTGTGGG	0.602		NA											139	415					0	0	0	0
PRB1	5542	broad.mit.edu	37	12	11506794	11506795	+	Missense_Mutation	DNP	GG	GG	TT	rs142774972		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506794_11506795GG>TT	uc001qzw.1	-	3	279_280	c.242_243CC>AA	c.(241-243)CCC>CAA	p.P81Q	PRB1_uc001qzu.1_Missense_Mutation_p.P81Q|PRB1_uc001qzv.1_Missense_Mutation_p.P81Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	142	5.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).|Missing (in allele M).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCCTTGTGGGGGTGGTCCTTG	0.629		NA											158	365					0	0	0	0
ABCC9	10060	broad.mit.edu	37	12	21970133	21970133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21970133C>A	uc001rfi.1	-	31	3900	c.3880G>T	c.(3880-3882)GAA>TAA	p.E1294*	ABCC9_uc001rfh.2_Nonsense_Mutation_p.E1294*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.E1258*	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1294	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTGTGCCTTCATAGTTCTCT	0.378		NA											75	204					1.43e-55	2.16e-55	1	0
SYT10	341359	broad.mit.edu	37	12	33538213	33538213	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:33538213A>C	uc001rll.1	-	4	1388	c.1091T>G	c.(1090-1092)CTG>CGG	p.L364R	SYT10_uc009zju.1_Missense_Mutation_p.L174R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	364	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATTTCACCCAGGTCTATACT	0.398		NA											15	40					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49420595	49420595	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420595G>A	uc001rta.3	-	48	15154	c.15154C>T	c.(15154-15156)CTG>TTG	p.L5052L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5052					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCCAGGTCCAGGTTCAGCAGA	0.617		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			32	82					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49420606	49420606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420606C>A	uc001rta.3	-	48	15143	c.15143G>T	c.(15142-15144)CGT>CTT	p.R5048L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5048					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GTTCAGCAGACGGGCAGGCCC	0.617		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			32	83					1.5e-21	2.12e-21	1	0
KRT72	140807	broad.mit.edu	37	12	52979793	52979793	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:52979793G>A	uc001sar.2	-	9	1595	c.1509C>T	c.(1507-1509)AGC>AGT	p.S503S	KRT72_uc001saq.2_Silent_p.S503S|KRT72_uc010sns.1_Silent_p.S461S|KRT72_uc010snt.1_Silent_p.S315S	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	503	Tail.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGGCACAGCTGCTCCCCG	0.562		NA											98	202					0	0	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913116	54913116	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:54913116G>T	uc001sgc.3	+	16	1704	c.1625G>T	c.(1624-1626)TGC>TTC	p.C542F	NCKAP1L_uc010sox.1_Missense_Mutation_p.C84F|NCKAP1L_uc010soy.1_Missense_Mutation_p.C492F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	542					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TCTACTTTCTGGTATGTCTTG	0.368		NA											49	104					1.58e-09	1.96e-09	1	0
SMARCC2	6601	broad.mit.edu	37	12	56566376	56566376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56566376G>A	uc001skb.2	-	18	1869	c.1763C>T	c.(1762-1764)CCC>CTC	p.P588L	SMARCC2_uc001skd.2_Missense_Mutation_p.P619L|SMARCC2_uc001ska.2_Missense_Mutation_p.P619L|SMARCC2_uc001skc.2_Missense_Mutation_p.P618L|SMARCC2_uc010sqf.1_Missense_Mutation_p.P508L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	588					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TACCTTGGAGGGAACATTCTT	0.502		NA											46	100					0	0	0	0
DTX3	196403	broad.mit.edu	37	12	58001107	58001107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:58001107G>T	uc001sow.1	+	5	798	c.461G>T	c.(460-462)CGG>CTG	p.R154L	DTX3_uc001sov.1_Missense_Mutation_p.R147L|DTX3_uc001sox.1_Missense_Mutation_p.R147L|DTX3_uc001soy.1_Missense_Mutation_p.R147L|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	154					Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					cctcgccttcGGGAGGAGGCA	0.493		NA											5	21					1.24e-05	1.42e-05	1	0
TRHDE	29953	broad.mit.edu	37	12	72955994	72955994	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:72955994G>T	uc001sxa.2	+	8	1733	c.1703G>T	c.(1702-1704)TGG>TTG	p.W568L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	568	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AATGATCTCTGGAATACATTA	0.289		NA											26	37					0.000227799	0.000252915	1	0
CAPS2	84698	broad.mit.edu	37	12	75692714	75692714	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:75692714C>A	uc001sxk.3	-	11	1141	c.944G>T	c.(943-945)GGG>GTG	p.G315V	CAPS2_uc001sxm.3_Missense_Mutation_p.G83V|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.G296V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	315							calcium ion binding			ovary(2)	2						GAAAAAGAACCCAATGAGCTC	0.313		NA											23	47					1.11e-12	1.43e-12	1	0
C12orf12	196477	broad.mit.edu	37	12	91347314	91347314	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:91347314C>G	uc001tbj.2	-	1	1640	c.1206G>C	c.(1204-1206)CAG>CAC	p.Q402H		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	402										central_nervous_system(1)|pancreas(1)	2						AGTTAAAGTCCTGTGCCATGA	0.373		NA											7	111					0	0	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93134644	93134644	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:93134644C>A	uc001tcj.2	+	3	249	c.19C>A	c.(19-21)CTA>ATA	p.L7I		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	7	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						TATGAATACACTAAGATATCT	0.313		NA											26	53					2.28e-19	3.17e-19	1	0
ANO4	121601	broad.mit.edu	37	12	101365164	101365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:101365164G>A	uc010svm.1	+	6	1109	c.537G>A	c.(535-537)ATG>ATA	p.M179I	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.M144I|ANO4_uc001thx.2_Missense_Mutation_p.M179I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	179	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CAGAACAAATGAATGTAAGAA	0.368		NA								HNSCC(74;0.22)			37	74					0	0	0	0
FOXN4	121643	broad.mit.edu	37	12	109723196	109723196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:109723196G>T	uc001toe.3	-	8	919	c.814C>A	c.(814-816)CTG>ATG	p.L272M	FOXN4_uc009zvg.2_Missense_Mutation_p.L69M|FOXN4_uc001tof.3_Missense_Mutation_p.L92M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	272	Fork-head.				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						ATGCGGGCCAGGTTCAGAGCC	0.607		NA											16	31					0.00074312	0.000807118	1	0
RASAL1	8437	broad.mit.edu	37	12	113543660	113543660	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:113543660C>A	uc001tum.1	-	17	1979	c.1686G>T	c.(1684-1686)CCG>CCT	p.P562P	RASAL1_uc010syp.1_Silent_p.P563P|RASAL1_uc001tul.2_Silent_p.P562P|RASAL1_uc001tun.1_Silent_p.P564P|RASAL1_uc010syq.1_Silent_p.P563P|RASAL1_uc001tuo.3_Silent_p.P563P	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TGGCCGAGGGCGGGAACAGGG	0.622		NA											31	99					1.62e-16	2.18e-16	1	0
SLC15A4	121260	broad.mit.edu	37	12	129294620	129294620	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129294620T>C	uc001uhu.2	-	3	932	c.879A>G	c.(877-879)CAA>CAG	p.Q293Q	SLC15A4_uc001uhv.2_Intron	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	293					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAACAGACTTTGTTTAGAAG	0.393		NA											46	93					0	0	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360582	129360582	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129360582C>G	uc010tbh.1	+	2	168	c.159C>G	c.(157-159)CTC>CTG	p.L53L	GLT1D1_uc001uhx.1_Silent_p.L64L|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	64					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTCTTCATCTCTATAGGGGAG	0.448		NA											82	183					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185032	130185032	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:130185032G>A	uc009zyl.1	-	2	619	c.291C>T	c.(289-291)TAC>TAT	p.Y97Y		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	97	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAAGGCCCGTAGCTGGCAT	0.488		NA											30	52					0	0	0	0
POLE	5426	broad.mit.edu	37	12	133212601	133212601	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:133212601T>C	uc001uks.1	-	42	5732	c.5688A>G	c.(5686-5688)TCA>TCG	p.S1896S	POLE_uc001ukq.1_Silent_p.S106S|POLE_uc001ukr.1_Silent_p.S700S|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1896					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGTCTCCTTTGAATGGATGC	0.428		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					25	57					0	0	0	0
FAM123A	219287	broad.mit.edu	37	13	25744108	25744108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:25744108G>T	uc001uqb.2	-	1	1750	c.1650C>A	c.(1648-1650)TAC>TAA	p.Y550*	FAM123A_uc001uqa.2_Nonsense_Mutation_p.Y431*|FAM123A_uc001uqc.2_Nonsense_Mutation_p.Y431*	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	550										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTCCCCGCTGTAGCTATCCC	0.642		NA											41	23					9.63e-15	1.28e-14	1	0
ATP8A2	51761	broad.mit.edu	37	13	26542750	26542750	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:26542750G>C	uc001uqk.2	+	35	3452	c.3310G>C	c.(3310-3312)GTG>CTG	p.V1104L	ATP8A2_uc010tdi.1_Missense_Mutation_p.V1039L|ATP8A2_uc010tdj.1_RNA	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	1064	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTGGAGGAGGTGCAGGAGCT	0.522		NA											6	11					0	0	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706215	41706215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:41706215A>T	uc001uxu.1	-	1	722	c.433T>A	c.(433-435)TAC>AAC	p.Y145N	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.Y79N|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	145							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GAGGCCGCGTACAGGCGCTCC	0.597		NA											35	40					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208987	58208987	+	Silent	SNP	G	G	T	rs77228191	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:58208987G>T	uc001vhq.1	+	1	3199	c.2307G>T	c.(2305-2307)CTG>CTT	p.L769L	PCDH17_uc010aec.1_Silent_p.L769L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	769	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCATGCTGGTGCAGAGCG	0.572		NA											19	25					8.01e-06	9.29e-06	1	0
KLHL1	57626	broad.mit.edu	37	13	70549883	70549883	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:70549883A>G	uc001vip.2	-	2	1343	c.549T>C	c.(547-549)AGT>AGC	p.S183S	KLHL1_uc010thm.1_Intron	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	183					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCAGAGCTACTGGAGTCCA	0.343		NA											45	54					0	0	0	0
NALCN	259232	broad.mit.edu	37	13	101910914	101910914	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:101910914C>T	uc001vox.1	-	11	1335	c.1146G>A	c.(1144-1146)CGG>CGA	p.R382R	NALCN_uc001voy.2_Silent_p.R97R|NALCN_uc001voz.2_Silent_p.R382R|NALCN_uc001vpa.2_Silent_p.R382R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	382	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACGGATGACCGCATCATTT	0.463		NA											12	20					0	0	0	0
MMP14	4323	broad.mit.edu	37	14	23313040	23313040	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:23313040C>T	uc001whc.2	+	6	1206	c.972C>T	c.(970-972)GAC>GAT	p.D324D		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	324	Hemopexin-like 1.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GGAACTTTGACACCGTGGCCA	0.493		NA											51	153					0	0	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884816	24884816	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:24884816C>G	uc001wpf.3	+	9	4179	c.3861C>G	c.(3859-3861)CCC>CCG	p.P1287P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1287					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGCTCACCCCCGCGGCCTCCA	0.622		NA											38	89					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30066892	30066892	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:30066892G>T	uc001wqh.2	-	16	2420	c.2239C>A	c.(2239-2241)CCC>ACC	p.P747T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGTAAGCGGGGGTACCCACC	0.493		NA											39	84					7.05e-23	1e-22	1	0
NPAS3	64067	broad.mit.edu	37	14	34269516	34269516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:34269516C>A	uc001wru.2	+	12	2067	c.2003C>A	c.(2002-2004)CCG>CAG	p.P668Q	NPAS3_uc001wrs.2_Missense_Mutation_p.P655Q|NPAS3_uc001wrt.2_Missense_Mutation_p.P636Q|NPAS3_uc001wrv.2_Missense_Mutation_p.P638Q	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAACTACCCGCCCAACCGG	0.622		NA											29	85					2.85e-18	3.9e-18	1	0
MDGA2	161357	broad.mit.edu	37	14	47530772	47530772	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:47530772T>A	uc001wwj.3	-	7	1194	c.998A>T	c.(997-999)AAA>ATA	p.K333I	MDGA2_uc001wwi.3_Missense_Mutation_p.K104I|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	333					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						AAATCGTCCTTTTTTTAATGC	0.348		NA											12	35					0	0	0	0
WDHD1	11169	broad.mit.edu	37	14	55448358	55448358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:55448358C>A	uc001xbm.1	-	16	2041	c.1963G>T	c.(1963-1965)GGT>TGT	p.G655C	WDHD1_uc010aom.1_Missense_Mutation_p.G172C|WDHD1_uc001xbn.1_Missense_Mutation_p.G532C	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	655						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CACGTATTACCAAGTCCTCTG	0.413		NA											25	68					3.29e-13	4.28e-13	1	0
MTHFD1	4522	broad.mit.edu	37	14	64891613	64891613	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:64891613C>T	uc001xhb.2	+	9	1206	c.819C>T	c.(817-819)GGC>GGT	p.G273G	MTHFD1_uc010aqe.2_Silent_p.G309G|MTHFD1_uc010aqf.2_Silent_p.G329G	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	273	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTGTTCCTGGCGGCGTAGGGC	0.458		NA											20	56					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633591	70633591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:70633591A>G	uc001xly.2	-	2	2303	c.1549T>C	c.(1549-1551)TGT>CGT	p.C517R	SLC8A3_uc001xlw.2_Missense_Mutation_p.C517R|SLC8A3_uc001xlx.2_Missense_Mutation_p.C517R|SLC8A3_uc001xlz.2_Missense_Mutation_p.C517R|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	517	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGCCACACAAGGGGAGGCT	0.502		NA											27	65					0	0	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200507	72200507	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:72200507A>G	uc001xms.2	+	19	5397	c.5049A>G	c.(5047-5049)GTA>GTG	p.V1683V	SIPA1L1_uc001xmt.2_Silent_p.V1662V|SIPA1L1_uc001xmu.2_Silent_p.V1662V|SIPA1L1_uc001xmv.2_Silent_p.V1683V|SIPA1L1_uc010ttm.1_Silent_p.V1137V|SIPA1L1_uc001xmw.2_Silent_p.V448V	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1683					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAACCTGGTAGATGCTGCCA	0.587		NA											21	42					0	0	0	0
KIAA0317	9870	broad.mit.edu	37	14	75150018	75150018	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:75150018G>A	uc001xqb.2	-	5	967	c.462C>T	c.(460-462)TAC>TAT	p.Y154Y	KIAA0317_uc010tut.1_5'UTR|KIAA0317_uc001xqc.2_Silent_p.Y154Y|KIAA0317_uc001xqd.1_RNA	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	154	Filamin.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AAATTTTGTAGTAGGGACTAT	0.274		NA											30	78					0	0	0	0
C14orf174	161394	broad.mit.edu	37	14	77845409	77845409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:77845409G>A	uc001xtq.1	+	1	1648	c.1648G>A	c.(1648-1650)GTT>ATT	p.V550I	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	550	SAM.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		TCCAGAGGAAGTTGCAGAGTG	0.428		NA											33	76					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94100936	94100936	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:94100936T>A	uc001ybv.1	+	30	5404	c.5321T>A	c.(5320-5322)CTG>CAG	p.L1774Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.L1752Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1929						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)		AAGCGGCAGCTGGAGCATCAG	0.468		NA											33	82					0	0	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353169	105353169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105353169C>T	uc010axb.2	+	12	2817	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R795W|KIAA0284_uc001yps.2_Missense_Mutation_p.R771W|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	865						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGCCTTTCTCCGGCAAGAGAG	0.652		NA											4	41					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411998	105411998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105411998C>A	uc010axc.1	-	7	9910	c.9790G>T	c.(9790-9792)GCC>TCC	p.A3264S	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3164S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3264						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCGGGGGCCGTCACATCC	0.627		NA											75	140					2.54e-55	3.82e-55	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412823	105412823	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105412823C>G	uc010axc.1	-	7	9085	c.8965G>C	c.(8965-8967)GGG>CGG	p.G2989R	AHNAK2_uc001ypx.2_Missense_Mutation_p.G2889R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2989						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACCCCGAACGACGGC	0.602		NA											165	348					0	0	0	0
MKRN3	7681	broad.mit.edu	37	15	23811400	23811400	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23811400G>A	uc001ywh.3	+	1	947	c.471G>A	c.(469-471)GCG>GCA	p.A157A	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A157A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	157						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGAAGTGGCGGAAGCCCCCC	0.642		NA											17	60					0	0	0	0
NDN	4692	broad.mit.edu	37	15	23932095	23932095	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23932095C>T	uc001ywk.2	-	1	356	c.270G>A	c.(268-270)CCG>CCA	p.P90P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	90					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGGTGCCGGGCCCGGCT	0.706		NA							Prader-Willi_syndrome				16	31					0	0	0	0
TRPM1	4308	broad.mit.edu	37	15	31324988	31324988	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:31324988G>A	uc001zfm.2	-	21	2918	c.2790C>T	c.(2788-2790)ATC>ATT	p.I930I	TRPM1_uc010azy.2_Silent_p.I837I|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	930	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACACAGTAGATCACCCGGC	0.473		NA											42	69					0	0	0	0
SPRED1	161742	broad.mit.edu	37	15	38591587	38591587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:38591587C>T	uc001zka.3	+	2	381	c.46C>T	c.(46-48)CGA>TGA	p.R16*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	16	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGTTATGCACGAGTGCGAGC	0.438		NA							Legius_syndrome				30	62					0	0	0	0
SEMA6D	80031	broad.mit.edu	37	15	48055235	48055235	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:48055235A>T	uc010bek.2	+	9	1041	c.681A>T	c.(679-681)ATA>ATT	p.I227I	SEMA6D_uc001zvw.2_Silent_p.I227I|SEMA6D_uc001zvx.1_Silent_p.I227I|SEMA6D_uc001zvy.2_Silent_p.I227I|SEMA6D_uc001zvz.2_Silent_p.I227I|SEMA6D_uc001zwa.2_Silent_p.I227I|SEMA6D_uc001zwb.2_Silent_p.I227I|SEMA6D_uc001zwc.2_Silent_p.I227I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	227	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCATGCCATAGAATATGGAA	0.358		NA											9	43					0	0	0	0
NARG2	79664	broad.mit.edu	37	15	60745949	60745949	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:60745949T>A	uc002agp.2	-	9	1213	c.978A>T	c.(976-978)TCA>TCT	p.S326S	NARG2_uc002ago.2_Silent_p.S189S|NARG2_uc002agq.3_5'UTR|NARG2_uc010bgk.2_Silent_p.S326S|NARG2_uc002agr.1_Silent_p.S326S	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	326						nucleus				ovary(1)|lung(1)	2						GGGGAAGTGGTGAATTAATAT	0.289		NA											32	97					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62202492	62202492	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:62202492A>G	uc002agz.2	-	64	8802	c.8728T>C	c.(8728-8730)TGG>CGG	p.W2910R	VPS13C_uc002aha.2_Missense_Mutation_p.W2867R|VPS13C_uc002ahb.1_Missense_Mutation_p.W2910R|VPS13C_uc002ahc.1_Missense_Mutation_p.W2867R|VPS13C_uc002ahd.1_Missense_Mutation_p.W287R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2910					protein localization					ovary(2)	2						CTTTCTGGCCAAAATGGAAGG	0.328		NA											12	36					0	0	0	0
SMAD6	4091	broad.mit.edu	37	15	67073771	67073771	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:67073771C>T	uc002aqf.2	+	4	2312	c.1389C>T	c.(1387-1389)AGC>AGT	p.S463S	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Silent_p.S202S	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	463	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						ACCCCAACAGCGTCCGCATCA	0.682		NA											12	19					0	0	0	0
POLG	5428	broad.mit.edu	37	15	89873428	89873428	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:89873428G>A	uc002bns.3	-	3	1021	c.739C>T	c.(739-741)CTG>TTG	p.L247L	POLG_uc002bnr.3_Silent_p.L247L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	247					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGACCTCCAGGGGGATGAGG	0.612		NA						DNA_polymerases_(catalytic_subunits)					9	80					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93528831	93528831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:93528831C>T	uc002bsp.2	+	26	3916	c.3341C>T	c.(3340-3342)CCA>CTA	p.P1114L	CHD2_uc002bso.1_Missense_Mutation_p.P1114L	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1114					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGAAGCCAAAGCGCAGA	0.537		NA											26	93					0	0	0	0
ZNF597	146434	broad.mit.edu	37	16	3487215	3487215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:3487215C>A	uc002cvd.2	-	4	668	c.484G>T	c.(484-486)GAC>TAC	p.D162Y		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	162	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGTTTTGGTCACACTCAGGA	0.368		NA											67	191					4.16e-52	6.24e-52	1	0
MYH11	4629	broad.mit.edu	37	16	15931989	15931989	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:15931989C>G	uc002ddy.2	-	2	228	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	MYH11_uc002ddv.2_Missense_Mutation_p.E41Q|MYH11_uc002ddw.2_Missense_Mutation_p.E41Q|MYH11_uc002ddx.2_Missense_Mutation_p.E41Q|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.E41Q	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	41	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CCCTGCTTCTCCGAGGGGACC	0.567		NA	T	CBFB	AML								38	106					0	0	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487096	20487096	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:20487096G>T	uc010bwe.2	+	9	1337	c.1098_splice	c.e9+1	p.T366_splice	ACSM2A_uc010vax.1_Splice_Site_p.T287_splice|ACSM2A_uc002dhf.3_Splice_Site_p.T366_splice|ACSM2A_uc002dhg.3_Splice_Site_p.T366_splice|ACSM2A_uc010vay.1_Splice_Site_p.T287_splice|ACSM2A_uc002dhh.3_Splice_Site	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GACAGAAACGGTACCTGTTCC	0.473		NA											95	233					2.37e-55	3.58e-55	1	0
PRKCB	5579	broad.mit.edu	37	16	24231346	24231346	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:24231346C>A	uc002dmd.2	+	17	2125	c.1928C>A	c.(1927-1929)CCC>CAC	p.P643H	PRKCB_uc002dme.2_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	643	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	GAACTGACCCCCACTGATAAA	0.423		NA											28	51					4.6e-10	5.75e-10	1	0
SPNS1	83985	broad.mit.edu	37	16	28995109	28995109	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:28995109C>T	uc010vdi.1	+	12	1463	c.1323C>T	c.(1321-1323)ATC>ATT	p.I441I	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.I368I|SPNS1_uc002dsa.2_Silent_p.I441I|SPNS1_uc002drz.2_Silent_p.I389I|SPNS1_uc010byp.2_Silent_p.I367I|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	441	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						CCCTGCAGATCTCTGACCGCC	0.637		NA											57	91					0	0	0	0
ZFP90	146198	broad.mit.edu	37	16	68598394	68598394	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:68598394C>T	uc010cff.2	+	5	1996	c.1704C>T	c.(1702-1704)CTC>CTT	p.L568L	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.L568L|ZFP90_uc002ewe.2_Silent_p.L568L	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	568	C2H2-type 11.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTTCATCTCTCATTCAGCATG	0.438		NA											53	119					0	0	0	0
COG4	25839	broad.mit.edu	37	16	70530226	70530226	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:70530226T>A	uc002ezc.2	-	12	1601	c.1590A>T	c.(1588-1590)CAA>CAT	p.Q530H	COG4_uc002ezb.2_Missense_Mutation_p.Q7H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.Q530H|COG4_uc002eze.2_Missense_Mutation_p.Q224H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	526					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAAATTTGCCTTGCTGGAGGC	0.547		NA											15	74					0	0	0	0
ADAT1	23536	broad.mit.edu	37	16	75646689	75646689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:75646689C>A	uc002feo.1	-	7	597	c.495G>T	c.(493-495)TGG>TGT	p.W165C	ADAT1_uc002fep.1_Missense_Mutation_p.W16C	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	165	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						AGTTGTGGGCCCAATTTCTGA	0.458		NA											20	49					7.88e-14	1.03e-13	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77375634	77375634	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:77375634G>C	uc002ffc.3	-	11	2096	c.1677C>G	c.(1675-1677)CCC>CCG	p.P559P	ADAMTS18_uc010chc.1_Silent_p.P147P|ADAMTS18_uc002ffe.1_Silent_p.P255P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTTCTGCTGCGGGCATAAACT	0.418		NA											14	43					0	0	0	0
NECAB2	54550	broad.mit.edu	37	16	84024099	84024099	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:84024099G>T	uc002fhd.2	+	6	477	c.460G>T	c.(460-462)GTA>TTA	p.V154L	NECAB2_uc002fhe.2_Missense_Mutation_p.V71L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	154					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CCTTCCACAGGTATATGAGGG	0.572		NA											34	63					1.22e-17	1.67e-17	1	0
ZBTB4	57659	broad.mit.edu	37	17	7370091	7370091	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7370091C>T	uc002ghc.3	-	3	280	c.30G>A	c.(28-30)CCG>CCA	p.P10P	ZBTB4_uc002ghd.3_Silent_p.P10P	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGCATGGGACGGGTCCGTCA	0.657		NA											2	0					0	0	0	0
CHD3	1107	broad.mit.edu	37	17	7806008	7806008	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7806008G>A	uc002gje.2	+	21	3483	c.3333G>A	c.(3331-3333)ACG>ACA	p.T1111T	CHD3_uc002gjd.2_Silent_p.T1170T|CHD3_uc002gjf.2_Silent_p.T1111T|CHD3_uc002gjh.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1111	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GTGGTATCACGGGTGCCCTGA	0.507		NA											96	49					0	0	0	0
ALOX15B	247	broad.mit.edu	37	17	7943265	7943265	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7943265G>T	uc002gju.2	+	3	529	c.413G>T	c.(412-414)CGC>CTC	p.R138L	ALOX15B_uc002gjv.2_Missense_Mutation_p.R138L|ALOX15B_uc002gjw.2_Missense_Mutation_p.R138L|ALOX15B_uc010vun.1_Missense_Mutation_p.R138L|ALOX15B_uc010cnp.2_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	138	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1						CAGCAACAGCGCCAGGAGGAG	0.612		NA											46	46					6.61e-23	9.42e-23	1	0
MYH8	4626	broad.mit.edu	37	17	10304007	10304007	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:10304007T>C	uc002gmm.2	-	27	3530	c.3435A>G	c.(3433-3435)GAA>GAG	p.E1145E	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1145	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TCTCCTCCAGTTCCCGGGAGA	0.592		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				98	44					0	0	0	0
SSH2	85464	broad.mit.edu	37	17	27963640	27963640	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:27963640T>C	uc002heo.1	-	14	1527	c.1527A>G	c.(1525-1527)GAA>GAG	p.E509E	SSH2_uc010wbh.1_Silent_p.E536E	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	509					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GGACCATATGTTCCACAAAGA	0.463		NA											38	159					0	0	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380818	28380818	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:28380818C>A	uc002het.2	+	10	2038	c.1846C>A	c.(1846-1848)CAA>AAA	p.Q616K	EFCAB5_uc010wbi.1_Missense_Mutation_p.Q359K|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q560K|EFCAB5_uc010wbk.1_Missense_Mutation_p.Q273K|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q495K|EFCAB5_uc010csf.2_Missense_Mutation_p.Q495K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	616							calcium ion binding			ovary(1)|skin(1)	2						TATTGCAGAACAAGATCGACA	0.468		NA											43	130					1.23e-20	1.72e-20	1	0
ACACA	31	broad.mit.edu	37	17	35549233	35549233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:35549233C>T	uc002hnm.2	-	37	4294	c.4103G>A	c.(4102-4104)CGT>CAT	p.R1368H	ACACA_uc002hnk.2_Missense_Mutation_p.R1290H|ACACA_uc002hnl.2_Missense_Mutation_p.R1310H|ACACA_uc002hnn.2_Missense_Mutation_p.R1368H|ACACA_uc002hno.2_Missense_Mutation_p.R1405H|ACACA_uc010cuy.2_Missense_Mutation_p.R62H	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1368					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGATAGATACGATCCTCCTC	0.408		NA											22	39					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40937377	40937377	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:40937377G>T	uc002ibj.2	+	6	1374	c.1353G>T	c.(1351-1353)CCG>CCT	p.P451P	WNK4_uc010wgx.1_Silent_p.P115P|WNK4_uc002ibk.1_Silent_p.P223P|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	451					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGAGAAGCCGGGCCTCAAGC	0.602		NA											7	16					0.000274275	0.000301935	1	0
GPATCH8	23131	broad.mit.edu	37	17	42513913	42513913	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:42513913C>A	uc002igw.1	-	4	258	c.194G>T	c.(193-195)GGG>GTG	p.G65V	GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	65	G-patch.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCTGTTCTCCCTGTAACAGG	0.428		NA											28	73					5.77e-19	7.96e-19	1	0
TBKBP1	9755	broad.mit.edu	37	17	45785830	45785830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:45785830C>A	uc002ilu.2	+	7	1792	c.943C>A	c.(943-945)CAG>AAG	p.Q315K		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	315					innate immune response						0						GAGTTCCCTACAGGGGAGAAT	0.652		NA											17	41					3.33e-07	3.99e-07	1	0
AKAP1	8165	broad.mit.edu	37	17	55183669	55183669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:55183669G>A	uc002iux.2	+	2	1075	c.844G>A	c.(844-846)GAC>AAC	p.D282N	AKAP1_uc010wnl.1_Missense_Mutation_p.D282N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.D282N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	282					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					GCTGGCAAAGGACGATGCGGC	0.577		NA											52	111					0	0	0	0
CCDC46	201134	broad.mit.edu	37	17	64059162	64059162	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:64059162C>A	uc002jfl.2	-	11	1212	c.993G>T	c.(991-993)GAG>GAT	p.E331D	CCDC46_uc010deo.2_Missense_Mutation_p.E73D|CCDC46_uc002jfm.2_Missense_Mutation_p.E331D|CCDC46_uc010dep.2_Missense_Mutation_p.E289D	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	331	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTTCTTTAGTCTCTCTGATAA	0.323		NA											30	66					2.44e-19	3.39e-19	1	0
ABCA9	10350	broad.mit.edu	37	17	67025355	67025355	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:67025355T>C	uc002jhu.2	-	11	1602	c.1459A>G	c.(1459-1461)AAA>GAA	p.K487E	ABCA9_uc010dez.2_Missense_Mutation_p.K487E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	487	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TATTCTTTTTTAAGATTTTTG	0.328		NA											23	36					0	0	0	0
CBX8	57332	broad.mit.edu	37	17	77768668	77768668	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:77768668G>T	uc002jxd.1	-	5	1029	c.936C>A	c.(934-936)GGC>GGA	p.G312G		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	312					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTGGGGGGGCCTGAGCCAT	0.692		NA											15	24					1.5e-05	1.72e-05	1	0
COLEC12	81035	broad.mit.edu	37	18	346445	346445	+	Missense_Mutation	SNP	G	G	A	rs140549407		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:346445G>A	uc002kkm.2	-	5	1392	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAATCCAAACGGATGTTGGCC	0.433		NA											202	76					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397093	5397093	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:5397093G>T	uc002kmt.1	-	18	2891	c.2805C>A	c.(2803-2805)CAC>CAA	p.H935Q	EPB41L3_uc010wzh.1_Missense_Mutation_p.H766Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.H713Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.H604Q|EPB41L3_uc002kms.1_Missense_Mutation_p.H170Q|EPB41L3_uc010wze.1_Missense_Mutation_p.H240Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.H232Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.H207Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.H327Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	935	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTTCTGAAATGTGGATGGCTG	0.438		NA											221	96					1.59e-58	2.4e-58	1	0
LAMA1	284217	broad.mit.edu	37	18	7037668	7037668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:7037668C>T	uc002knm.2	-	12	1740	c.1646G>A	c.(1645-1647)CGC>CAC	p.R549H	LAMA1_uc010wzj.1_Missense_Mutation_p.R25H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	549	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R549C(1)		ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCTGATGGCGCCCGCCTAG	0.547		NA											180	73					0	0	0	0
CEP192	55125	broad.mit.edu	37	18	13053023	13053023	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13053023G>T	uc010xac.1	+	18	3203	c.3123G>T	c.(3121-3123)ACG>ACT	p.T1041T	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.T566T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'Flank|CEP192_uc002krs.1_Silent_p.T782T	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1041										ovary(4)|pancreas(1)	5						GCAGGCTGACGTATGTGTCTG	0.562		NA											83	457					1.46e-26	2.11e-26	1	0
MAPK4	5596	broad.mit.edu	37	18	48248423	48248423	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:48248423G>C	uc002lev.2	+	4	1807	c.807G>C	c.(805-807)GAG>GAC	p.E269D	MAPK4_uc010xdm.1_Missense_Mutation_p.E58D|MAPK4_uc010doz.2_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	269	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCACCTGGGAGGTGAAGAGGC	0.582		NA											10	20					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63530053	63530053	+	Missense_Mutation	SNP	C	C	A	rs138789170	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:63530053C>A	uc002ljz.2	+	11	2089	c.1764C>A	c.(1762-1764)GAC>GAA	p.D588E	CDH7_uc002lka.2_Missense_Mutation_p.D588E|CDH7_uc002lkb.2_Missense_Mutation_p.D588E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	588	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GTGATGCTGACGGCGTAGCCC	0.522		NA											27	26					1.25e-16	1.68e-16	1	0
C18orf22	79863	broad.mit.edu	37	18	77794529	77794529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:77794529C>T	uc002lns.2	+	1	172	c.34C>T	c.(34-36)CGC>TGC	p.R12C	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.R12C|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	12					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GTGGCGCTCCCGCGCGGGTCT	0.716		NA											12	11					0	0	0	0
WDR18	57418	broad.mit.edu	37	19	990234	990234	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:990234C>A	uc002lqm.1	+	4	493	c.467C>A	c.(466-468)GCC>GAC	p.A156D	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.A119D|WDR18_uc010dry.1_Missense_Mutation_p.A156D	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	156	WD 3.									skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GTGCTGCAGGCCGACCCCTCC	0.721		NA											8	30					1.13e-05	1.3e-05	1	0
GPX4	2879	broad.mit.edu	37	19	1105707	1105707	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:1105707C>G	uc010xgg.1	+	5	482	c.375C>G	c.(373-375)GTC>GTG	p.V125V	GPX4_uc010xgh.1_Silent_p.V125V|GPX4_uc010xgi.1_Silent_p.V162V	NM_002085	NP_002076	P36969	GPX4_HUMAN	glutathione peroxidase 4 isoform A precursor	125					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)	Glutathione(DB00143)	GCTACAACGTCAAATTCGATA	0.587		NA											8	15					0	0	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891219	4891219	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:4891219G>C	uc002mbm.2	-	3	868	c.868C>G	c.(868-870)CAC>GAC	p.H290D		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	290					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGCGAGTGTGCATGATCTCA	0.612		NA											68	159					0	0	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221172	10221172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10221172G>A	uc002mna.2	+	10	913	c.913G>A	c.(913-915)GAG>AAG	p.E305K	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.E305K|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.E305K|PPAN_uc002mnb.1_Missense_Mutation_p.E252K	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	305					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCAAGACGGAGGAGGAGCT	0.657		NA											6	19					0	0	0	0
C19orf39	126074	broad.mit.edu	37	19	11486219	11486219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:11486219C>G	uc002mrg.1	+	2	254	c.217C>G	c.(217-219)CGA>GGA	p.R73G		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	hypothetical protein LOC126074	73											0						ACCCTCAACCCGAGAGCTTTT	0.592		NA											72	182					0	0	0	0
RFX1	5989	broad.mit.edu	37	19	14074050	14074050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:14074050C>A	uc002mxv.2	-	19	2880	c.2608G>T	c.(2608-2610)GCC>TCC	p.A870S		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	870	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGAAGCTGGCGGCGCTGCGC	0.672		NA											12	30					1.05e-09	1.31e-09	1	0
OR10H5	284433	broad.mit.edu	37	19	15905710	15905710	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15905710C>A	uc010xos.1	+	1	852	c.852C>A	c.(850-852)CCC>CCA	p.P284P		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCCTCACACCCTTCCTCAGCC	0.527		NA											22	44					4.48e-21	6.31e-21	1	0
CYP4F2	8529	broad.mit.edu	37	19	15989674	15989674	+	Silent	SNP	G	G	A	rs150488576	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15989674G>A	uc002nbs.1	-	13	1520	c.1470C>T	c.(1468-1470)CGC>CGT	p.R490R	CYP4F2_uc010xot.1_Silent_p.R341R	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CAGGCAGGACGCGGAAGCGCA	0.672		NA											12	52					0	0	0	0
NWD1	284434	broad.mit.edu	37	19	16861004	16861004	+	Silent	SNP	G	G	A	rs148902093		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:16861004G>A	uc002neu.3	+	6	1973	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	NWD1_uc002net.3_Silent_p.P382P|NWD1_uc002nev.3_Silent_p.P311P			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	517	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CGCTGAGCCCGGTGCACACAG	0.632		NA											29	73					0	0	0	0
PGLS	25796	broad.mit.edu	37	19	17631872	17631872	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:17631872G>A	uc002ngw.2	+	5	809	c.759G>A	c.(757-759)GAG>GAA	p.E253E	FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	253						cytosol	6-phosphogluconolactonase activity				0						TGCCCTTCGAGAAGCATTCCA	0.701		NA											5	11					0	0	0	0
ZNF257	113835	broad.mit.edu	37	19	22271667	22271667	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22271667A>T	uc010ecx.2	+	4	1284	c.1115A>T	c.(1114-1116)TAC>TTC	p.Y372F	ZNF257_uc010ecy.2_Missense_Mutation_p.Y340F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	372	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAAACCCTACAAATGTGAA	0.383		NA											12	38					0	0	0	0
ZNF98	148198	broad.mit.edu	37	19	22586259	22586259	+	Missense_Mutation	SNP	C	C	A	rs138636054	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22586259C>A	uc002nqt.2	-	2	208	c.86G>T	c.(85-87)TGC>TTC	p.C29F		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTGTCCAGGCATTGCCACTC	0.413		NA											29	99					4.75e-14	6.24e-14	1	0
ZNF536	9745	broad.mit.edu	37	19	31025860	31025860	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:31025860T>C	uc002nsu.1	+	3	2415	c.2277T>C	c.(2275-2277)ACT>ACC	p.T759T	ZNF536_uc010edd.1_Silent_p.T759T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	759	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GTGGGAAAACTTTCCGGACAT	0.612		NA											49	109					0	0	0	0
ZNF30	90075	broad.mit.edu	37	19	35435633	35435633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:35435633G>A	uc010edp.1	+	5	2141	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q	ZNF30_uc002nxf.2_Missense_Mutation_p.R507Q|ZNF30_uc010edq.1_Missense_Mutation_p.R589Q|ZNF30_uc010edr.1_Missense_Mutation_p.R589Q	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	588	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAACATCAGCGGGTACACACT	0.403		NA											15	26					0	0	0	0
NFKBID	84807	broad.mit.edu	37	19	36381394	36381394	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:36381394T>A	uc002oci.1	-	10	1181	c.607_splice	c.e10-1	p.E203_splice	NFKBID_uc002och.1_Splice_Site_p.E40_splice|NFKBID_uc002ocj.1_Splice_Site_p.E218_splice	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene						inflammatory response	nucleus					0						CTTGATCTCCTGAGGGGAAGG	0.572		NA											49	87					0	0	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610472	38610472	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:38610472G>T	uc002ohk.2	+	9	3327	c.2818G>T	c.(2818-2820)GCG>TCG	p.A940S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	940					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCCTACAGGCGACAGAGGG	0.542		NA											22	44					3.1e-05	3.53e-05	1	0
IL28A	282616	broad.mit.edu	37	19	39760161	39760161	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:39760161C>T	uc002oku.1	+	4	356	c.304C>T	c.(304-306)CTG>TTG	p.L102L		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	102					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGAGGCTGAGCTGGCCCTGAC	0.438		NA											16	42					0	0	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929371	40929371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:40929371G>A	uc002ont.3	-	2	242	c.83C>T	c.(82-84)CCT>CTT	p.P28L		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTGGCCAGGATCTAGCCA	0.572		NA											12	50					0	0	0	0
ERCC2	2068	broad.mit.edu	37	19	45872213	45872213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:45872213G>T	uc002pbj.2	-	4	268	c.221C>A	c.(220-222)TCA>TAA	p.S74*	ERCC2_uc010ejz.2_Nonsense_Mutation_p.S74*|ERCC2_uc002pbk.2_Nonsense_Mutation_p.S50*|ERCC2_uc002pbl.3_Nonsense_Mutation_p.S50*|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	74	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACAGTTCTTGAGCAGTAGAT	0.582		NA	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				29	75					4.23e-11	5.36e-11	1	0
FOXA3	3171	broad.mit.edu	37	19	46376291	46376291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:46376291C>T	uc002pdr.2	+	2	1225	c.1028C>T	c.(1027-1029)TCC>TTC	p.S343F		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	343					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GGCCTCTATTCCCGCTCTTTG	0.582		NA											10	18					0	0	0	0
TRPM4	54795	broad.mit.edu	37	19	49684706	49684706	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:49684706C>T	uc002pmw.2	+	10	1323	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	TRPM4_uc010emu.2_Silent_p.D417D|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.D243D|TRPM4_uc010emv.2_Silent_p.D302D|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	417	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCGGGGGGACATCCAATGGC	0.557		NA											22	44					0	0	0	0
POLD1	5424	broad.mit.edu	37	19	50919882	50919882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:50919882G>A	uc002psb.3	+	24	3025	c.2969G>A	c.(2968-2970)CGC>CAC	p.R990H	POLD1_uc002psc.3_Missense_Mutation_p.R990H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R1016H|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	990					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GACCACACGCGCTGCAAGACG	0.706		NA						DNA_polymerases_(catalytic_subunits)					3	7					0	0	0	0
ZNF616	90317	broad.mit.edu	37	19	52620044	52620044	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:52620044G>T	uc002pym.2	-	4	656	c.373C>A	c.(373-375)CAA>AAA	p.Q125K	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGACTATGTTGATCTCTTTTA	0.378		NA											64	165					1.55e-19	2.16e-19	1	0
CACNG6	59285	broad.mit.edu	37	19	54515364	54515364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:54515364C>A	uc002qct.2	+	4	1294	c.704C>A	c.(703-705)GCC>GAC	p.A235D	CACNG6_uc002qcu.2_Missense_Mutation_p.A189D|CACNG6_uc002qcv.2_Missense_Mutation_p.A164D	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	235	Helical; (Potential).					voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGTTGGGGGCCGGCTGCTTT	0.701		NA											39	52					1.62e-30	2.35e-30	1	0
LILRB1	10859	broad.mit.edu	37	19	55148089	55148089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:55148089C>A	uc002qgj.2	+	15	2132	c.1792C>A	c.(1792-1794)CAG>AAG	p.Q598K	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.Q599K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q599K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q600K|LILRB1_uc010erq.2_Missense_Mutation_p.Q582K|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	598	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		AGAGGACAGGCAGATGGACAC	0.612		NA								HNSCC(37;0.09)			10	44					2.27e-07	2.74e-07	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703218	56703218	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56703218C>A	uc010ygh.1	-	2	588	c.588_splice	c.e2+1	p.Q196_splice		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CACACACTCACCTGCCTCCTG	0.607		NA											12	31					1.57e-10	1.98e-10	1	0
ZNF835	90485	broad.mit.edu	37	19	57176560	57176560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:57176560C>A	uc010ygo.1	-	2	73	c.73G>T	c.(73-75)GGA>TGA	p.G25*	ZNF835_uc010ygn.1_Nonsense_Mutation_p.G3*	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CTCAAGAGTCCCTCCATCCTC	0.498		NA											16	57					2.35e-11	2.99e-11	1	0
KIDINS220	57498	broad.mit.edu	37	2	8871438	8871438	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:8871438C>G	uc002qzc.2	-	30	4910	c.4728G>C	c.(4726-4728)GCG>GCC	p.A1576A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.A1477A|KIDINS220_uc002qzb.2_Silent_p.A430A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1576	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)					TGTCAAGGAGCGCATCCGATA	0.478		NA											40	89					0	0	0	0
APOB	338	broad.mit.edu	37	2	21230877	21230877	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:21230877T>C	uc002red.2	-	26	8991	c.8863A>G	c.(8863-8865)ACT>GCT	p.T2955A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2955					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAAAGGAAGTGAGGGGTCCT	0.413		NA											79	178					0	0	0	0
ATAD2B	54454	broad.mit.edu	37	2	23977593	23977593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:23977593G>A	uc002rek.3	-	26	4424	c.4130C>T	c.(4129-4131)ACG>ATG	p.T1377M	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.T617M|ATAD2B_uc002rej.3_Missense_Mutation_p.T545M	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1377							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTTGTCGTTTTTGCCTG	0.383		NA											32	57					0	0	0	0
EHD3	30845	broad.mit.edu	37	2	31489393	31489393	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31489393C>T	uc002rnu.2	+	6	2039	c.1431C>T	c.(1429-1431)CCC>CCT	p.P477P	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	477	EH.|EF-hand.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCAAGCTGCCCAACAGTGTGC	0.552		NA											30	67					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874048	48874048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48874048G>A	uc010yol.1	+	5	2863	c.2816G>A	c.(2815-2817)AGC>AAC	p.S939N	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S986N|GTF2A1L_uc002rws.1_Missense_Mutation_p.S282N|GTF2A1L_uc010yom.1_Missense_Mutation_p.S248N|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S282N	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	939					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTCCACAAGCCCTCATGGG	0.428		NA											23	59					0	0	0	0
FSHR	2492	broad.mit.edu	37	2	49381449	49381449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:49381449C>G	uc002rww.2	-	1	182	c.108G>C	c.(106-108)AAG>AAC	p.K36N	FSHR_uc002rwx.2_Missense_Mutation_p.K36N|FSHR_uc010fbn.2_Missense_Mutation_p.K36N|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	36	LRRNT.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCTCTGTCACCTTGCTCTCTT	0.517		NA							Gonadal_Dysgenesis_46_XX				26	62					0	0	0	0
C2orf86	51057	broad.mit.edu	37	2	63631467	63631467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:63631467C>T	uc002sch.2	-	10	1597	c.1151G>A	c.(1150-1152)AGC>AAC	p.S384N	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S225N|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S192N|C2orf86_uc002sci.1_Missense_Mutation_p.S360N|C2orf86_uc010fcr.1_Missense_Mutation_p.S274N	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	384	WD 2.				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						TGGGTGGCAGCTTATTAATGA	0.433		NA											50	99					0	0	0	0
INO80B	83444	broad.mit.edu	37	2	74684871	74684871	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:74684871G>C	uc002slg.2	+	5	996	c.951G>C	c.(949-951)CCG>CCC	p.P317P	INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Silent_p.P289P|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Silent_p.P335P|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	317	HIT-type.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						GTCCCCATCCGCGCCGCTACG	0.701		NA											17	39					0	0	0	0
REG1A	5967	broad.mit.edu	37	2	79349244	79349245	+	Missense_Mutation	DNP	CC	CC	AA	rs3181912		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349244_79349245CC>AA	uc002snz.2	+	4	417_418	c.314_315CC>AA	c.(313-315)CCC>CAA	p.P105Q	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.P105Q	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	105	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						CTCCATGACCCCAAAAAGGTAG	0.49		NA											25	63					0	0	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530249	80530249	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530249G>T	uc002sok.1	-	2	966	c.696C>A	c.(694-696)CTC>CTA	p.L232L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	232	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCAGGGAGATGAGGCGCGGGA	0.592		NA								HNSCC(69;0.2)			59	111					6.1e-20	8.53e-20	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530450	80530450	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530450C>G	uc002sok.1	-	2	765	c.495G>C	c.(493-495)ACG>ACC	p.T165T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	165	LRR 4.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCATATGCAGCGTGGTGAGCT	0.622		NA								HNSCC(69;0.2)			21	59					0	0	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816488	80816488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80816488A>G	uc010ysh.1	+	14	2072	c.2067A>G	c.(2065-2067)ATA>ATG	p.I689M	CTNNA2_uc010yse.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysi.1_Missense_Mutation_p.I321M|CTNNA2_uc010ysj.1_Missense_Mutation_p.I18M	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	689					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AGGTGGAGATATTCCATCAAG	0.493		NA											22	52					0	0	0	0
TRIM43	129868	broad.mit.edu	37	2	96260164	96260164	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:96260164G>T	uc002suv.2	+	2	529	c.393G>T	c.(391-393)GAG>GAT	p.E131D		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	tripartite motif-containing 43	131	Potential.					intracellular	zinc ion binding			ovary(1)	1						CCATCGAAGAGGCAGCTGAGG	0.488		NA											34	76					5.44e-19	7.51e-19	1	0
ZAP70	7535	broad.mit.edu	37	2	98351166	98351166	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:98351166G>T	uc002syd.1	+	9	1280	c.1073G>T	c.(1072-1074)CGC>CTC	p.R358L	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R248L|ZAP70_uc002syf.1_Missense_Mutation_p.R51L	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	358	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGCGTGTACCGCATGCGCAAG	0.637		NA											46	44					6.31e-24	9.05e-24	1	0
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:109547447C>A	uc002teq.3	-	2	455	c.24G>T	c.(22-24)ACG>ACT	p.T8T	EDAR_uc010fjn.2_Silent_p.T8T|EDAR_uc010yws.1_Silent_p.T8T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						AGGGCGTCTGCGTGCAGTCCC	0.582		NA											54	112					3.32e-32	4.85e-32	1	0
DPP10	57628	broad.mit.edu	37	2	116599915	116599915	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:116599915T>A	uc002tla.1	+	26	2842	c.2385T>A	c.(2383-2385)GAT>GAA	p.D795E	DPP10_uc002tlb.1_Missense_Mutation_p.D745E|DPP10_uc002tlc.1_Missense_Mutation_p.D791E|DPP10_uc002tle.2_Missense_Mutation_p.D799E|DPP10_uc002tlf.1_Missense_Mutation_p.D788E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	795	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CAGAAGAAGATGAATAATGGA	0.383		NA											31	50					0	0	0	0
INHBB	3625	broad.mit.edu	37	2	121107382	121107382	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:121107382G>T	uc002tmn.2	+	2	1202	c.1156G>T	c.(1156-1158)GAT>TAT	p.D386Y		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	386					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GCTGTACTTCGATGATGAGTA	0.607		NA											19	51					1.56e-12	2.02e-12	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125284996	125284996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:125284996A>G	uc002tno.2	+	10	1973	c.1609A>G	c.(1609-1611)AGT>GGT	p.S537G	CNTNAP5_uc010flu.2_Missense_Mutation_p.S538G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	537	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGGAATTTTAGTGATTTACA	0.423		NA											48	88					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141359046	141359046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:141359046T>C	uc002tvj.1	-	42	7934	c.6962A>G	c.(6961-6963)CAT>CGT	p.H2321R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2321	Extracellular (Potential).|LDL-receptor class B 24.				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)		GGCTAGCACATGTGGATGGTC	0.403		NA								TSP Lung(27;0.18)			15	45					0	0	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555407	155555407	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155555407G>A	uc002tyv.1	+	1	315	c.120G>A	c.(118-120)AAG>AAA	p.K40K	KCNJ3_uc010zce.1_Silent_p.K40K	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	40	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTGTGCCCAAGAAGAAGCGGC	0.617		NA											24	44					0	0	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711434	155711434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155711434T>A	uc002tyv.1	+	3	1310	c.1115T>A	c.(1114-1116)ATA>AAA	p.I372K	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	372	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TCCCCTTTAATAGCACCAGCC	0.413		NA											28	88					0	0	0	0
GALNT3	2591	broad.mit.edu	37	2	166618451	166618451	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:166618451C>A	uc010fph.1	-	4	1189	c.802G>T	c.(802-804)GCA>TCA	p.A268S	GALNT3_uc010fpi.1_Missense_Mutation_p.A268S	NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	268	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3						TCAGCTGTTGCGACTGTTGCT	0.358		NA											23	66					4.54e-19	6.28e-19	1	0
XIRP2	129446	broad.mit.edu	37	2	168101077	168101077	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168101077T>A	uc002udx.2	+	8	3193	c.3175T>A	c.(3175-3177)TTT>ATT	p.F1059I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F884I|XIRP2_uc010fpq.2_Missense_Mutation_p.F837I|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	884	Xin 15.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAATGGTTGTTTGAAACCCA	0.318		NA											21	39					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168106303	168106303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168106303C>A	uc002udx.2	+	8	8419	c.8401C>A	c.(8401-8403)CCC>ACC	p.P2801T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2626T|XIRP2_uc010fpq.2_Missense_Mutation_p.P2579T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.P147T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2626					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAGATGGTTCCCAGGAAGCA	0.408		NA											29	45					1.81e-10	2.27e-10	1	0
LRP2	4036	broad.mit.edu	37	2	170013897	170013897	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:170013897G>A	uc002ues.2	-	64	12216	c.12003C>T	c.(12001-12003)GAC>GAT	p.D4001D		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4001	EGF-like 14.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGAGGTTCTGTCAAAAACAT	0.383		NA											19	39					0	0	0	0
SLC25A12	8604	broad.mit.edu	37	2	172669945	172669945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:172669945C>A	uc002uhh.2	-	11	1164	c.1075G>T	c.(1075-1077)GGC>TGC	p.G359C	SLC25A12_uc010fqh.2_Missense_Mutation_p.G252C	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	359	Solcar 1.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGCCAGAGCCACGCTGGTTT	0.443		NA											52	166					6.91e-35	1.02e-34	1	0
GPR155	151556	broad.mit.edu	37	2	175333771	175333771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:175333771T>C	uc002uit.2	-	6	1442	c.1051A>G	c.(1051-1053)ACA>GCA	p.T351A	GPR155_uc002uiu.2_Missense_Mutation_p.T351A|GPR155_uc002uiv.2_Missense_Mutation_p.T351A|GPR155_uc010fqs.2_Missense_Mutation_p.T351A	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	351	Helical; (Potential).				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						GACACAAATGTGCTTATCACC	0.398		NA											28	79					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179462734	179462734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179462734C>A	uc010zfg.1	-	242	49683	c.49459G>T	c.(49459-49461)GAA>TAA	p.E16487*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E10182*|TTN_uc010zfi.1_Nonsense_Mutation_p.E10115*|TTN_uc010zfj.1_Nonsense_Mutation_p.E9990*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17414							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGCTCCTTCCTTTAATCCT	0.388		NA											66	187					4.84e-46	7.24e-46	1	0
TTN	7273	broad.mit.edu	37	2	179578813	179578813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179578813C>T	uc010zfg.1	-	89	23064	c.22840G>A	c.(22840-22842)GAA>AAA	p.E7614K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4275K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8541							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTGAGTTCAGGGGTGCCA	0.413		NA											19	46					0	0	0	0
COL3A1	1281	broad.mit.edu	37	2	189852852	189852852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:189852852G>T	uc002uqj.1	+	6	691	c.574G>T	c.(574-576)GGT>TGT	p.G192C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	192	Triple-helical region.		G -> V (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCATCCTGGTTCCCCTGT	0.398		NA											39	100					4.91e-07	5.84e-07	1	0
SLC39A10	57181	broad.mit.edu	37	2	196544871	196544871	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:196544871G>A	uc002utg.3	+	2	319	c.105G>A	c.(103-105)GCG>GCA	p.A35A	SLC39A10_uc002uth.3_Silent_p.A35A|SLC39A10_uc010zgp.1_Intron	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	35	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCCTGAAGCGCTTCACAGAC	0.368		NA											26	46					0	0	0	0
HECW2	57520	broad.mit.edu	37	2	197184265	197184265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:197184265C>A	uc002utm.1	-	9	1532	c.1349G>T	c.(1348-1350)AGT>ATT	p.S450I	HECW2_uc002utl.1_Missense_Mutation_p.S94I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	450					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						AGTGGGAAAACTACTCCTCAG	0.498		NA											24	63					5.35e-11	6.76e-11	1	0
SATB2	23314	broad.mit.edu	37	2	200173595	200173595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:200173595C>T	uc002uuy.1	-	10	2445	c.1628G>A	c.(1627-1629)CGC>CAC	p.R543H	SATB2_uc010fsq.1_Missense_Mutation_p.R425H|SATB2_uc002uuz.1_Missense_Mutation_p.R543H|SATB2_uc002uva.1_Missense_Mutation_p.R543H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	543	CUT 2.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCAGGAAGCGACGGATGGT	0.572		NA											5	112					0	0	0	0
MDH1B	130752	broad.mit.edu	37	2	207621698	207621698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621698C>T	uc002vbs.2	-	4	392	c.337G>A	c.(337-339)GGG>AGG	p.G113R	MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.G113R|MDH1B_uc010fuj.2_Missense_Mutation_p.G15R|MDH1B_uc002vbt.2_RNA	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	113					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATATGTGCCCCCAGGTTCTCT	0.443		NA											31	76					0	0	0	0
MDH1B	130752	broad.mit.edu	37	2	207621966	207621966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621966C>A	uc002vbs.2	-	3	320	c.265G>T	c.(265-267)GCT>TCT	p.A89S	MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.A89S|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	89					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATACCTGAGCATGCTCCAGG	0.363		NA											25	92					3.8e-18	5.18e-18	1	0
VWC2L	402117	broad.mit.edu	37	2	215279018	215279018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215279018G>A	uc002vet.2	+	2	231	c.101G>A	c.(100-102)GGT>GAT	p.G34D	VWC2L_uc010zjl.1_Missense_Mutation_p.G34D	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	34						extracellular region					0						GCTGATGAAGGTGACCAGATC	0.448		NA											28	55					0	0	0	0
ABCA12	26154	broad.mit.edu	37	2	215843554	215843554	+	Missense_Mutation	SNP	C	C	T	rs28940568		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215843554C>T	uc002vew.2	-	32	5171	c.4951G>A	c.(4951-4953)GGC>AGC	p.G1651S	ABCA12_uc002vev.2_Missense_Mutation_p.G1333S|ABCA12_uc010zjn.1_Missense_Mutation_p.G578S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1651					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)		TCTGAAATGCCGTAGCACCCG	0.458		NA											30	90					0	0	0	0
DOCK10	55619	broad.mit.edu	37	2	225740756	225740756	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:225740756C>A	uc010fwz.1	-	8	1169	c.930G>T	c.(928-930)CTG>CTT	p.L310L	DOCK10_uc002vob.2_Silent_p.L304L|DOCK10_uc002vod.1_Silent_p.L310L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	310							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTCTCACCCAGACCCAGAT	0.517		NA											20	87					8.1e-08	9.86e-08	1	0
KIAA1486	57624	broad.mit.edu	37	2	226446802	226446802	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:226446802G>A	uc002voe.2	+	4	844	c.669G>A	c.(667-669)CCG>CCA	p.P223P	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	223										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CGTCGCTGCCGCGGGACTCCT	0.582		NA											16	211					0	0	0	0
NMUR1	10316	broad.mit.edu	37	2	232390072	232390072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:232390072G>C	uc002vry.3	-	3	1073	c.963C>G	c.(961-963)AGC>AGG	p.S321R		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	321	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGACACGACGCTCCACATGA	0.657		NA											28	64					0	0	0	0
ESPNL	339768	broad.mit.edu	37	2	239040038	239040038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:239040038G>C	uc002vxq.3	+	9	2793	c.2683G>C	c.(2683-2685)GAG>CAG	p.E895Q	ESPNL_uc010fyw.2_Missense_Mutation_p.E591Q	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	895										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACGGCTGGGAGGCTGTGCG	0.687		NA											5	13					0	0	0	0
TGM3	7053	broad.mit.edu	37	20	2308958	2308958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2308958C>T	uc002wfx.3	+	9	1377	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	427					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	AGCACCAAGGCGGTGGGCAGC	0.572		NA											19	48					0	0	0	0
TGM6	343641	broad.mit.edu	37	20	2411213	2411213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2411213G>T	uc002wfy.1	+	11	1861	c.1800G>T	c.(1798-1800)AAG>AAT	p.K600N	TGM6_uc010gal.1_Missense_Mutation_p.K600N	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	600					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	TGGTGGAGAAGGACATTACTC	0.512		NA											22	59					0.000175454	0.000195467	1	0
TMC2	117532	broad.mit.edu	37	20	2592857	2592857	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2592857A>G	uc002wgf.1	+	13	1629	c.1614A>G	c.(1612-1614)ATA>ATG	p.I538M	TMC2_uc002wgg.1_Missense_Mutation_p.I522M|TMC2_uc010zpw.1_Missense_Mutation_p.I370M|TMC2_uc010zpx.1_Missense_Mutation_p.I369M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	538	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						AAGAGACAATAAAGAACATCA	0.502		NA											49	153					0	0	0	0
CDS2	8760	broad.mit.edu	37	20	5166473	5166473	+	Splice_Site	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5166473G>A	uc002wls.2	+	9	1085	c.828_splice	c.e9+1	p.L276_splice	CDS2_uc002wlr.1_Splice_Site_p.L198_splice|CDS2_uc010zqt.1_Splice_Site|CDS2_uc002wlu.2_Splice_Site_p.L221_splice|CDS2_uc010zqu.1_Splice_Site_p.L156_splice|CDS2_uc002wlv.2_Splice_Site_p.L178_splice|CDS2_uc010zqv.1_Splice_Site_p.L97_splice	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2						phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						TGGCCTTCTGGTAGGTGGTGG	0.557		NA											43	88					0	0	0	0
PROKR2	128674	broad.mit.edu	37	20	5283103	5283103	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5283103G>T	uc010zqw.1	-	2	738	c.738C>A	c.(736-738)ATC>ATA	p.I246I	PROKR2_uc010zqx.1_Silent_p.I246I|PROKR2_uc010zqy.1_Silent_p.I246I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	246	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCTCCCGGGAGATCCTGGCAT	0.587		NA								HNSCC(71;0.22)			34	66					9.18e-22	1.3e-21	1	0
HAO1	54363	broad.mit.edu	37	20	7866414	7866414	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:7866414A>C	uc002wmw.1	-	6	935	c.911T>G	c.(910-912)CTG>CGG	p.L304R	HAO1_uc010gbu.2_Missense_Mutation_p.L304R	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	304	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						GCCAAGAGCCAGAGCTTTCAG	0.488		NA											59	146					0	0	0	0
SEL1L2	80343	broad.mit.edu	37	20	13839934	13839934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:13839934A>G	uc010gcf.2	-	18	1874	c.1792T>C	c.(1792-1794)TAT>CAT	p.Y598H	SEL1L2_uc002woq.3_Missense_Mutation_p.Y459H|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	598	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						CCGTGTTCATACATATAAGCC	0.403		NA											27	58					0	0	0	0
SSTR4	6754	broad.mit.edu	37	20	23017173	23017173	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017173C>A	uc002wsr.2	+	1	1117	c.1053C>A	c.(1051-1053)CTC>CTA	p.L351L		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	351	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCACTGCTCTCAAGAGCAAAG	0.652		NA											39	59					9.46e-24	1.35e-23	1	0
SSTR4	6754	broad.mit.edu	37	20	23017264	23017264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017264C>T	uc002wsr.2	+	1	1208	c.1144C>T	c.(1144-1146)CTC>TTC	p.L382F		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	382	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGCATCCCCCTCACCAGGAC	0.657		NA											40	88					0	0	0	0
MAPRE1	22919	broad.mit.edu	37	20	31434486	31434486	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31434486G>A	uc002wyh.2	+	6	799	c.660G>A	c.(658-660)AAG>AAA	p.K220K		NM_012325	NP_036457	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family,	220	Interaction with CDK5RAP2.|EB1 C-terminal.|APC-binding.|Interaction with MTUS2/TIP150.|DCTN1-binding.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding				0						ACTTCGGAAAGCTACGGAACA	0.423		NA											69	163					0	0	0	0
C20orf186	149954	broad.mit.edu	37	20	31685548	31685548	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31685548C>A	uc010zue.1	+	11	1539	c.1524C>A	c.(1522-1524)GTC>GTA	p.V508V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	508						cytoplasm|extracellular region	lipid binding				0						AGGTCATGGTCTCCCAGCCCA	0.572		NA											34	52					2.08e-15	2.78e-15	1	0
EPB41L1	2036	broad.mit.edu	37	20	34778267	34778267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:34778267G>T	uc002xfb.2	+	10	1266	c.1095G>T	c.(1093-1095)AAG>AAT	p.K365N	EPB41L1_uc002xeu.2_Missense_Mutation_p.K303N|EPB41L1_uc010zvo.1_Missense_Mutation_p.K365N|EPB41L1_uc002xev.2_Missense_Mutation_p.K365N|EPB41L1_uc002xew.2_Missense_Mutation_p.K268N|EPB41L1_uc002xex.2_Missense_Mutation_p.K334N|EPB41L1_uc002xey.2_Missense_Mutation_p.K292N|EPB41L1_uc002xez.2_Missense_Mutation_p.K303N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	365	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GACTGTGGAAGGTCTGCATCG	0.542		NA											9	28					0.000442599	0.000485999	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37464725	37464725	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:37464725C>A	uc002xje.2	+	2	346	c.157C>A	c.(157-159)CGG>AGG	p.R53R	PPP1R16B_uc010ggc.2_Silent_p.R53R	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	53	Potential.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AAAGCATGAGCGGAAGCGCAG	0.677		NA											13	22					4.38e-07	5.23e-07	1	0
PTPRT	11122	broad.mit.edu	37	20	41100930	41100930	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41100930G>T	uc002xkg.2	-	8	1610	c.1426C>A	c.(1426-1428)CTG>ATG	p.L476M	PTPRT_uc010ggj.2_Missense_Mutation_p.L476M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	476	Extracellular (Potential).|Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCACCACCAGCTCCTCGCTC	0.582		NA											43	83					5.73e-26	8.26e-26	1	0
PTPRT	11122	broad.mit.edu	37	20	41419980	41419980	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41419980C>A	uc002xkg.2	-	3	525	c.341G>T	c.(340-342)AGG>ATG	p.R114M	PTPRT_uc010ggj.2_Missense_Mutation_p.R114M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	114	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGCTGGACCTGTCACGGCT	0.602		NA											27	69					9.78e-22	1.38e-21	1	0
NCAM2	4685	broad.mit.edu	37	21	22849700	22849700	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:22849700A>G	uc002yld.1	+	15	2234	c.1985A>G	c.(1984-1986)TAT>TGT	p.Y662C	NCAM2_uc011acb.1_Missense_Mutation_p.Y520C	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	662	Fibronectin type-III 2.|Extracellular (Potential).			YEVQIT -> MKFRLP (in Ref. 1; AAB80803).	neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACCATGGGGTATGAAGTTCAG	0.403		NA											34	49					0	0	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306893	28306893	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:28306893C>A	uc002ymg.2	-	4	2310	c.1581G>T	c.(1579-1581)ATG>ATT	p.M527I		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	527	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TCAGACAGACCATCTGGCCCT	0.572		NA											35	73					1.27e-14	1.67e-14	1	0
BACH1	571	broad.mit.edu	37	21	30693704	30693704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:30693704G>T	uc002ynj.2	+	2	218	c.103G>T	c.(103-105)GAT>TAT	p.D35Y	BACH1_uc002ynk.2_Missense_Mutation_p.D35Y|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	35	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						TGTGCTGTGCGATGTCACCAT	0.522		NA											52	159					1.66e-12	2.14e-12	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864055	31864056	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864055_31864056CC>AA	uc002yog.1	-	1	220_221	c.220_221GG>TT	c.(220-222)GGA>TTA	p.G74L		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament					0						GAATCCATATCCTCCATAGTAT	0.47		NA											68	145					0	0	0	0
COL6A2	1292	broad.mit.edu	37	21	47537349	47537349	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:47537349G>A	uc002zia.1	+	11	1117	c.1035G>A	c.(1033-1035)AAG>AAA	p.K345K	COL6A2_uc002zhy.1_Silent_p.K345K|COL6A2_uc002zhz.1_Silent_p.K345K|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	345	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCTGCAAGGGAGACCCTG	0.672		NA											15	44					0	0	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868460	22868460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22868460G>A	uc002zwe.2	-	2	1748	c.1495C>T	c.(1495-1497)CAG>TAG	p.Q499*	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCCTGGCTGAACTGAAGTT	0.328		NA											47	99					0	0	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869368	22869368	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22869368A>C	uc002zwe.2	-	2	840	c.587T>G	c.(586-588)GTC>GGC	p.V196G	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATCTGAAGGGACCACAGCTAA	0.438		NA											18	182					0	0	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462243	37462243	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37462243G>A	uc003aqs.1	-	18	2427	c.2313C>T	c.(2311-2313)CTC>CTT	p.L771L	TMPRSS6_uc003aqt.1_Silent_p.L784L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	771	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						AGCGGCCACTGAGTGCCTTGC	0.622		NA											12	28					0	0	0	0
RAC2	5880	broad.mit.edu	37	22	37627347	37627347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37627347G>T	uc003arc.2	-	5	489	c.372C>A	c.(370-372)GAC>GAA	p.D124E		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	124					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|central_nervous_system(1)|skin(1)	4						TCTCGATGGTGTCCTTGTCGT	0.637		NA											35	54					4.66e-17	6.32e-17	1	0
ELFN2	114794	broad.mit.edu	37	22	37769436	37769436	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37769436G>A	uc003asq.3	-	3	2925	c.2139C>T	c.(2137-2139)CCC>CCT	p.P713P		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	713	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGTACAGGGCGGGAAAGCTGT	0.547		NA											7	13					0	0	0	0
SMCR7L	54471	broad.mit.edu	37	22	39907350	39907350	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:39907350C>A	uc003axx.2	+	3	549	c.51C>A	c.(49-51)GGC>GGA	p.G17G	SMCR7L_uc003axw.2_Silent_p.G17G|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	17						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					ATGGCATTGGCACGGCCATTG	0.587		NA											13	39					2.62e-11	3.33e-11	1	0
CELSR1	9620	broad.mit.edu	37	22	46930098	46930098	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:46930098C>A	uc003bhw.1	-	1	2970	c.2970G>T	c.(2968-2970)TTG>TTT	p.L990F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	990	Extracellular (Potential).|Cadherin 7.				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)		CATTAATGTCCAAGATGGTCA	0.547		NA											46	90					8.05e-23	1.15e-22	1	0
ZBED4	9889	broad.mit.edu	37	22	50279075	50279075	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50279075G>T	uc003bix.2	+	2	2235	c.1765G>T	c.(1765-1767)GGG>TGG	p.G589W		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589	BED-type 4.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CATCAGCCGGGGGAAGAAGCC	0.517		NA											38	75					2.45e-15	3.26e-15	1	0
SHANK3	85358	broad.mit.edu	37	22	51143509	51143509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:51143509G>T	uc003bne.1	+	17	2062	c.2062G>T	c.(2062-2064)GGG>TGG	p.G688W	SHANK3_uc003bnf.1_Missense_Mutation_p.G143W	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	688										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAAGAGGACGGGGCTCGGCG	0.587		NA											21	62					1.26e-06	1.5e-06	1	0
CNTN4	152330	broad.mit.edu	37	3	3067852	3067852	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:3067852C>A	uc003bpc.2	+	14	1774	c.1553C>A	c.(1552-1554)CCG>CAG	p.P518Q	CNTN4_uc003bpb.1_Missense_Mutation_p.P190Q|CNTN4_uc003bpd.1_Missense_Mutation_p.P518Q|CNTN4_uc003bpe.2_Missense_Mutation_p.P190Q|CNTN4_uc003bpf.2_Missense_Mutation_p.P190Q	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	518	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTTTTACCGTGCCAGGTA	0.423		NA											22	59					7.42e-09	9.15e-09	1	0
GALNTL2	117248	broad.mit.edu	37	3	16268961	16268961	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:16268961G>T	uc003car.3	+	10	2349	c.1874G>T	c.(1873-1875)CGC>CTC	p.R625L	GALNTL2_uc003caq.3_Missense_Mutation_p.R358L|GALNTL2_uc003cas.3_Missense_Mutation_p.R155L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	625	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGAAAAGCCCGCCAGCAGTGG	0.443		NA											35	71					1.07e-15	1.43e-15	1	0
STAC	6769	broad.mit.edu	37	3	36524549	36524549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:36524549G>A	uc003cgh.1	+	3	493	c.454G>A	c.(454-456)GAT>AAT	p.D152N	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	152	Phorbol-ester/DAG-type.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CAAGTGCACAGATGGCCTGGC	0.557		NA											22	62					0	0	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307932	39307932	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:39307932A>T	uc003cjl.2	-	2	161	c.69T>A	c.(67-69)ATT>ATA	p.I23I		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	23	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGATGTCCCCAATATAACAGG	0.458		NA											15	39					0	0	0	0
SETD2	29072	broad.mit.edu	37	3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:47147518T>C	uc003cqs.2	-	6	4861	c.4808A>G	c.(4807-4809)CAT>CGT	p.H1603R	SETD2_uc003cqv.2_Missense_Mutation_p.H1592R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398		NA	N|F|S|Mis		clear cell renal carcinoma								43	142					0	0	0	0
SLC25A20	788	broad.mit.edu	37	3	48896061	48896061	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:48896061G>C	uc003cva.3	-	8	897	c.722C>G	c.(721-723)CCT>CGT	p.P241R	SLC25A20_uc011bbw.1_Missense_Mutation_p.P191R|SLC25A20_uc010hkj.2_Missense_Mutation_p.P168R	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	241	Solcar 3.|Mitochondrial matrix (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTTCCCAGGAGGTGCTGTGGG	0.483		NA											25	107					0	0	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755534	49755534	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49755534G>A	uc003cxj.2	-	1	1705	c.1365C>T	c.(1363-1365)GTC>GTT	p.V455V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	455	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637		NA											39	75					0	0	0	0
MST1R	4486	broad.mit.edu	37	3	49935550	49935550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49935550C>A	uc003cxy.3	-	5	2078	c.1814G>T	c.(1813-1815)GGA>GTA	p.G605V	MST1R_uc011bdd.1_Missense_Mutation_p.G605V|MST1R_uc011bde.1_Missense_Mutation_p.G605V|MST1R_uc011bdf.1_Missense_Mutation_p.G499V|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	605	IPT/TIG 1.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGATGGGTTCCCTCAGGCAC	0.577		NA											26	63					1.34e-20	1.88e-20	1	0
ERC2	26059	broad.mit.edu	37	3	56330328	56330328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:56330328G>A	uc003dhr.1	-	3	1049	c.793C>T	c.(793-795)CGG>TGG	p.R265W		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	265	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTTGGAGCCGCCTAAAGTTC	0.542		NA											57	141					0	0	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433074	73433074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:73433074C>A	uc003dpl.1	-	10	2739	c.2643G>T	c.(2641-2643)CAG>CAT	p.Q881H	PDZRN3_uc011bgh.1_Missense_Mutation_p.Q538H|PDZRN3_uc010hoe.1_Missense_Mutation_p.Q579H|PDZRN3_uc011bgf.1_Missense_Mutation_p.Q598H|PDZRN3_uc011bgg.1_Missense_Mutation_p.Q601H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	881							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTAGCTCTGGTAGTGCT	0.642		NA											29	69					7.65e-34	1.12e-33	1	0
ROBO2	6092	broad.mit.edu	37	3	77147180	77147180	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:77147180A>T	uc003dpy.3	+	2	720	c.77A>T	c.(76-78)CAG>CTG	p.Q26L	ROBO2_uc003dpz.2_Missense_Mutation_p.Q26L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q26L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	26	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTCTTCGCCAGGAGGACTTT	0.527		NA											6	14					0	0	0	0
C3orf38	285237	broad.mit.edu	37	3	88202621	88202621	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:88202621G>T	uc003dqw.2	+	3	686	c.375G>T	c.(373-375)CAG>CAT	p.Q125H		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	125					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATTTCAACAGGTAAAATAAA	0.383		NA											14	36					0.000219431	0.000244042	1	0
DPPA4	55211	broad.mit.edu	37	3	109049520	109049520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:109049520G>T	uc003dxq.3	-	5	585	c.530C>A	c.(529-531)CCT>CAT	p.P177H	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.P177H	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	177						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTCCAGGGCAGGCGGCTCCCC	0.512		NA											43	105					8.21e-20	1.14e-19	1	0
ZBTB20	26137	broad.mit.edu	37	3	114069727	114069727	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:114069727G>T	uc003ebi.2	-	4	1378	c.1198C>A	c.(1198-1200)CGG>AGG	p.R400R	ZBTB20_uc003ebj.2_Silent_p.R327R|ZBTB20_uc010hqp.2_Silent_p.R327R|ZBTB20_uc003ebk.2_Silent_p.R327R|ZBTB20_uc003ebl.2_Silent_p.R327R|ZBTB20_uc003ebm.2_Silent_p.R327R|ZBTB20_uc003ebn.2_Silent_p.R327R|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGCTGTCCCGCGCCGCCCCA	0.647		NA											35	71					3.76e-14	4.95e-14	1	0
PLXND1	23129	broad.mit.edu	37	3	129289977	129289977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:129289977C>T	uc003emx.2	-	18	3606	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1169	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GTAGTCCAGGCGGAACCTGCT	0.632		NA											63	189					0	0	0	0
TXNDC6	347736	broad.mit.edu	37	3	138025304	138025304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:138025304C>A	uc003esg.2	-	7	507	c.479G>T	c.(478-480)TGT>TTT	p.C160F	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.C75F|TXNDC6_uc003ese.1_Missense_Mutation_p.C99F	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	160	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						GGCCAAGGTACAGGTCCTCTC	0.453		NA											35	69					4e-26	5.77e-26	1	0
ZIC1	7545	broad.mit.edu	37	3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:147127954G>A	uc003ewe.2	+	1	774	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A19A(1)		ovary(1)|central_nervous_system(1)	2						CACCTTTGGCGCGTCCCGCCA	0.741		NA											15	32					0	0	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907542	164907542	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:164907542G>C	uc003fej.3	-	2	1521	c.1077C>G	c.(1075-1077)CCC>CCG	p.P359P	SLITRK3_uc003fek.2_Silent_p.P359P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	359	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AAGGAGCAATGGGAGGCTGGT	0.502		NA								HNSCC(40;0.11)			68	188					0	0	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216503	170216503	+	Missense_Mutation	SNP	C	C	A	rs141548910		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:170216503C>A	uc003fgz.2	-	4	1028	c.712G>T	c.(712-714)GGG>TGG	p.G238W	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	238						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)			CAGTATTTCCCATTGATGAAG	0.522		NA											31	76					2.49e-23	3.55e-23	1	0
NLGN1	22871	broad.mit.edu	37	3	173997336	173997336	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:173997336C>A	uc003fio.1	+	6	1968	c.1545C>A	c.(1543-1545)ATC>ATA	p.I515I	NLGN1_uc010hww.1_Silent_p.I555I|NLGN1_uc003fip.1_Silent_p.I515I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	532	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTGGGAATCCCCATGATTG	0.443		NA											27	55					5.62e-17	7.62e-17	1	0
CLCN2	1181	broad.mit.edu	37	3	184076565	184076565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184076565C>T	uc003foi.2	-	3	381	c.257G>A	c.(256-258)AGG>AAG	p.R86K	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R86K|CLCN2_uc011brl.1_Missense_Mutation_p.R86K|CLCN2_uc011brm.1_Intron|CLCN2_uc011brn.1_Missense_Mutation_p.R86K|POLR2H_uc003foj.1_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	86	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCACCAACCCTGGATACTAG	0.557		NA											3	15					0	0	0	0
C3orf21	152002	broad.mit.edu	37	3	194947466	194947466	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:194947466C>T	uc003fum.3	-	2	732	c.624G>A	c.(622-624)TCG>TCA	p.S208S	C3orf21_uc011bsw.1_Silent_p.S62S	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	208						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GCATGGCGACCGAGAGGAAGA	0.537		NA											6	90					0	0	0	0
POLN	353497	broad.mit.edu	37	4	2175683	2175683	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:2175683C>G	uc003ger.2	-	9	1373	c.1373G>C	c.(1372-1374)GGG>GCG	p.G458A	POLN_uc010ich.1_Missense_Mutation_p.G49A|POLN_uc011bvi.1_Missense_Mutation_p.G458A	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	458					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATAACTTACCCCAAGAAGTGC	0.438		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					130	105					0	0	0	0
GRXCR1	389207	broad.mit.edu	37	4	43022369	43022369	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:43022369A>T	uc003gwt.2	+	3	628	c.628_splice	c.e3-2	p.G210_splice		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1						cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TCTCGTTAATAGGGTGCTGAG	0.343		NA											38	22					0	0	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:46252598C>T	uc003gxc.3	-	9	1756	c.1083G>A	c.(1081-1083)ATG>ATA	p.M361I	GABRA2_uc010igc.2_Missense_Mutation_p.M361I|GABRA2_uc011bzc.1_Missense_Mutation_p.M366I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	361	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398		NA											8	105					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62813846	62813846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62813846G>A	uc010ihh.2	+	14	2626	c.2453G>A	c.(2452-2454)TGT>TAT	p.C818Y	LPHN3_uc003hcq.3_Missense_Mutation_p.C818Y|LPHN3_uc003hct.2_Missense_Mutation_p.C211Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	805	GPS.|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						AACCCTAACTGTTCATTTTGG	0.378		NA											35	21					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62845283	62845283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62845283C>A	uc010ihh.2	+	15	2777	c.2604C>A	c.(2602-2604)CAC>CAA	p.H868Q	LPHN3_uc003hcq.3_Missense_Mutation_p.H868Q|LPHN3_uc003hct.2_Missense_Mutation_p.H261Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	855	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						GTTTCCAGCACAGTGATGCGG	0.413		NA											146	86					7.33e-86	1.11e-85	1	0
PPM1K	152926	broad.mit.edu	37	4	89199527	89199527	+	Missense_Mutation	SNP	C	C	T	rs146041562		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:89199527C>T	uc003hrm.3	-	2	599	c.209G>A	c.(208-210)CGC>CAC	p.R70H	PPM1K_uc010ikp.1_Missense_Mutation_p.R70H|PPM1K_uc003hrn.2_Missense_Mutation_p.R70H	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	70					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTCATCAATGCGGTTATCCCA	0.512		NA											30	25					0	0	0	0
FAM190A	401145	broad.mit.edu	37	4	91549260	91549260	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:91549260G>T	uc003hsv.3	+	6	2149	c.1809G>T	c.(1807-1809)GCG>GCT	p.A603A	FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A603A	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	603										large_intestine(1)|ovary(1)	2						GTCCATCTGCGGATTGGCCTC	0.443		NA											57	39					1.54e-20	2.15e-20	1	0
CTSO	1519	broad.mit.edu	37	4	156860668	156860668	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:156860668C>G	uc003ipg.2	-	4	456	c.407G>C	c.(406-408)AGC>ACC	p.S136T		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	136					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCACCACGCTGAAGGCCCA	0.438		NA											88	67					0	0	0	0
FSTL5	56884	broad.mit.edu	37	4	162841665	162841665	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841665C>A	uc003iqh.2	-	4	736	c.300G>T	c.(298-300)GTG>GTT	p.V100V	FSTL5_uc003iqi.2_Silent_p.V99V|FSTL5_uc010iqv.2_Silent_p.V99V	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	100	Kazal-like.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGATCCACACACAGGTTTGT	0.443		NA											48	31					2.02e-29	2.93e-29	1	0
FSTL5	56884	broad.mit.edu	37	4	162841675	162841675	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841675T>C	uc003iqh.2	-	4	726	c.290A>G	c.(289-291)TAC>TGC	p.Y97C	FSTL5_uc003iqi.2_Missense_Mutation_p.Y96C|FSTL5_uc010iqv.2_Missense_Mutation_p.Y96C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	97	Kazal-like.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAGGTTTGTAGTGACGTTT	0.433		NA											49	30					0	0	0	0
ADCY2	108	broad.mit.edu	37	5	7706876	7706876	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7706876G>A	uc003jdz.1	+	8	1196	c.1129G>A	c.(1129-1131)GGA>AGA	p.G377R	ADCY2_uc011cmo.1_Missense_Mutation_p.G197R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	377	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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGATGCTACTGGAGTTGATAT	0.443		NA											54	131					0	0	0	0
ADCY2	108	broad.mit.edu	37	5	7757586	7757586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7757586C>G	uc003jdz.1	+	16	2048	c.1981C>G	c.(1981-1983)CTG>GTG	p.L661V	ADCY2_uc011cmo.1_Missense_Mutation_p.L481V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	661					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						AGCCTCTCCCCTGCTCATGTG	0.473		NA											57	184					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13735314	13735314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13735314G>A	uc003jfd.2	-	68	11729	c.11687C>T	c.(11686-11688)ACC>ATC	p.T3896I	DNAH5_uc003jfc.2_Missense_Mutation_p.T64I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3896					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAGCAACAAGGTGAACAGGAA	0.418		NA							Kartagener_syndrome				38	90					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13865914C>A	uc003jfd.2	-	27	4260	c.4218G>T	c.(4216-4218)AAG>AAT	p.K1406N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTAGTTGCTTCTTTATTTCAA	0.343		NA							Kartagener_syndrome				40	75					1.97e-18	2.7e-18	1	0
MARCH11	441061	broad.mit.edu	37	5	16067854	16067854	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:16067854C>A	uc003jfo.2	-	4	1148	c.935G>T	c.(934-936)TGG>TTG	p.W312L	MARCH11_uc010itw.1_Missense_Mutation_p.W68L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	312						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						CACAGCTCGCCAGCGCTTAAA	0.428		NA											21	40					2.39e-15	3.18e-15	1	0
DAB2	1601	broad.mit.edu	37	5	39377090	39377090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39377090G>A	uc003jlx.2	-	12	2330	c.1799C>T	c.(1798-1800)CCA>CTA	p.P600L	DAB2_uc003jlw.2_Missense_Mutation_p.P579L	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	600					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGCAGGAGCTGGAAAAATATT	0.572		NA									OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	147					0	0	0	0
DAB2	1601	broad.mit.edu	37	5	39381569	39381569	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39381569G>T	uc003jlx.2	-	11	2022	c.1491C>A	c.(1489-1491)CCC>CCA	p.P497P	DAB2_uc003jlw.2_Silent_p.P476P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	497					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GACCCACCAGGGGCCCCACTG	0.507		NA											57	174					3.4e-17	4.63e-17	1	0
CARD6	84674	broad.mit.edu	37	5	40853333	40853333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:40853333G>A	uc003jmg.2	+	3	1974	c.1899G>A	c.(1897-1899)ATG>ATA	p.M633I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						AGGAAGTGATGTTCTCTTCTT	0.522		NA											11	278					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004450	41004450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41004450C>A	uc003jmj.3	-	37	4682	c.4192G>T	c.(4192-4194)GAT>TAT	p.D1398Y	HEATR7B2_uc003jmi.3_Missense_Mutation_p.D953Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1398	HEAT 15.						binding			ovary(6)|central_nervous_system(2)	8						TCACTTACATCTTCAAAGAAG	0.393		NA											62	109					6.56e-45	9.81e-45	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382389	41382389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41382389G>T	uc003jmm.1	-	2	453	c.351C>A	c.(349-351)TTC>TTA	p.F117L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	117	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CTTTGGCACTGAACAAACCAT	0.448		NA											57	116					3.89e-19	5.41e-19	1	0
IQGAP2	10788	broad.mit.edu	37	5	75936852	75936852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:75936852G>T	uc003kek.2	+	17	2240	c.2018G>T	c.(2017-2019)GGA>GTA	p.G673V	IQGAP2_uc010izv.2_Missense_Mutation_p.G226V|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	673					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)		ACAAGCTCAGGACCCATCCTT	0.423		NA											26	52					1.18e-10	1.48e-10	1	0
PDE8B	8622	broad.mit.edu	37	5	76703252	76703252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:76703252C>A	uc003kfa.2	+	13	1380	c.1335C>A	c.(1333-1335)CAC>CAA	p.H445Q	PDE8B_uc003kfb.2_Missense_Mutation_p.H425Q|PDE8B_uc003kfc.2_Missense_Mutation_p.H445Q|PDE8B_uc003kfd.2_Missense_Mutation_p.H398Q|PDE8B_uc003kfe.2_Missense_Mutation_p.H348Q	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	445					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGAGGATCCACTCCATGACCA	0.582		NA											23	67					3.74e-18	5.11e-18	1	0
NR2F1	7025	broad.mit.edu	37	5	92929334	92929334	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:92929334A>T	uc003kkj.2	+	3	2745	c.1058A>T	c.(1057-1059)GAG>GTG	p.E353V		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	353					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCGCACTGGAGGAGTACGTG	0.647		NA											23	77					0	0	0	0
EFNA5	1946	broad.mit.edu	37	5	106763036	106763037	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763036_106763037CC>AA	uc003kol.2	-	2	581_582	c.299_300GG>TT	c.(298-300)TGG>TTT	p.W100F	EFNA5_uc010jbr.1_Missense_Mutation_p.W100F	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	100					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTTACATTCCCATCTCTTGAA	0.495		NA											28	81					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908268	139908268	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:139908268C>T	uc003lfs.1	+	29	5861	c.5737C>T	c.(5737-5739)CTA>TTA	p.L1913L	ANKHD1_uc003lfr.2_Silent_p.L1913L|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.L652L|ANKHD1_uc003lfw.2_Silent_p.L551L|ANKHD1_uc010jfl.2_Silent_p.L348L|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.L50L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1913						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGCCGTCTACCTAACCA	0.488		NA											28	48					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530659	140530659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140530659G>A	uc003lir.2	+	1	821	c.821G>A	c.(820-822)GGG>GAG	p.G274E	PCDHB6_uc011dah.1_Missense_Mutation_p.G138E	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	274	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCGTTTGGGAAGGTATCT	0.473		NA											19	54					0	0	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569126	140569126	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140569126G>A	uc003liw.1	+	3	2235	c.2235G>A	c.(2233-2235)CTG>CTA	p.L745L	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	745	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGACCCTGTTCCAGAGCT	0.647		NA											109	99					0	0	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595270	140595271	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595270_140595271GG>TT	uc003lja.1	+	1	1762_1763	c.1575_1576GG>TT	c.(1573-1578)CAGGGG>CATTGG	p.525_526QG>HW		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	525_526	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGGGTTCCAGTT	0.693		NA											62	53					0	0	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763189	140763189	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140763189C>T	uc003lka.1	+	1	723	c.723C>T	c.(721-723)GTC>GTT	p.V241V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.V241V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	241	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCCTGTCTTCTCTCTGC	0.587		NA											11	27					0	0	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802351	140802351	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140802351A>T	uc003lkq.1	+	1	1815	c.1557A>T	c.(1555-1557)CAA>CAT	p.Q519H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.Q519H|PCDHGA11_uc003lkp.1_Missense_Mutation_p.Q519H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	519	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTACAATCCTTCGACT	0.542		NA											43	126					0	0	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868945	140868945	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140868945G>C	uc003lla.1	+	1	138	c.138G>C	c.(136-138)GGG>GGC	p.G46G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.G46G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	46	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGGGAATGTTGCTC	0.572		NA											16	65					0	0	0	0
SH3TC2	79628	broad.mit.edu	37	5	148389880	148389880	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:148389880A>T	uc003lpu.2	-	14	3432	c.3280T>A	c.(3280-3282)TTC>ATC	p.F1094I	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.F738I|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.F641I|SH3TC2_uc010jgx.2_Missense_Mutation_p.F1087I	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1094	TPR 5.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGAAGAACACATCACCT	0.537		NA											29	33					0	0	0	0
MYOZ3	91977	broad.mit.edu	37	5	150056389	150056389	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150056389A>T	uc003lss.2	+	7	1295	c.708A>T	c.(706-708)AGA>AGT	p.R236S	MYOZ3_uc003lsr.2_Missense_Mutation_p.R236S	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	236						sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCAACAGAGTGGCCCAGG	0.637		NA											35	81					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150920141	150920141	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150920141G>C	uc003lue.3	-	10	9039	c.9026C>G	c.(9025-9027)CCA>CGA	p.P3009R	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3009	Extracellular (Potential).|Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACACTGTGGGCTGTTATC	0.408		NA											11	15					0	0	0	0
KIF4B	285643	broad.mit.edu	37	5	154394078	154394078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:154394078T>C	uc010jih.1	+	1	819	c.659T>C	c.(658-660)ATA>ACA	p.I220T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	220	Kinesin-motor.			I -> L (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAATCTCCATAGAGCAAAGA	0.468		NA											39	83					0	0	0	0
SLIT3	6586	broad.mit.edu	37	5	168244400	168244400	+	Missense_Mutation	SNP	C	C	A	rs151091745		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:168244400C>A	uc003mab.2	-	8	1118	c.698G>T	c.(697-699)CGA>CTA	p.R233L	SLIT3_uc010jjg.2_Missense_Mutation_p.R233L|SLIT3_uc010jji.2_Missense_Mutation_p.R233L|SLIT3_uc003mac.1_Missense_Mutation_p.R30L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	233	LRRCT 1.				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)			AACTGTCCGTCGCTGTCGCAG	0.617		NA											9	40					1.05e-09	1.31e-09	1	0
HIST1H3J	8356	broad.mit.edu	37	6	27858380	27858380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27858380C>T	uc003nka.2	-	1	191	c.191G>A	c.(190-192)CGC>CAC	p.R64H	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_003526	P68431	H31_HUMAN	histone cluster 1, H3j	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						TGGCAGTTTGCGGATGAGCAG	0.607		NA											6	96					0	0	0	0
OR2B6	26212	broad.mit.edu	37	6	27925796	27925796	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27925796C>T	uc011dkx.1	+	1	778	c.778C>T	c.(778-780)CTG>TTG	p.L260L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTCTGTGTACCTGCAACCACC	0.453		NA											112	61					0	0	0	0
HLA-F	3134	broad.mit.edu	37	6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:29691698G>A	uc010jrl.2	+	2	452	c.328G>A	c.(328-330)GAG>AAG	p.E110K	HLA-F_uc003nnm.3_Missense_Mutation_p.E110K|HLA-F_uc003nno.3_Missense_Mutation_p.E110K|HLA-F_uc011dlx.1_Missense_Mutation_p.E110K|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CAACCAGAGCGAGGCTGGTGA	0.677		NA											8	0					0	0	0	0
TAP2	6891	broad.mit.edu	37	6	32782378	32782378	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:32782378A>T	uc011dqf.1	-	14	2305	c.2183T>A	c.(2182-2184)GTG>GAG	p.V728E	HLA-DOB_uc003oca.2_Missense_Mutation_p.V121E|HLA-DOB_uc011dqg.1_Missense_Mutation_p.V121E	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CTCTGGTTGCACTAGGAAGGG	0.493		NA											117	74					0	0	0	0
WDR46	9277	broad.mit.edu	37	6	33254975	33254975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:33254975T>C	uc003ods.2	-	9	952	c.908A>G	c.(907-909)GAT>GGT	p.D303G	WDR46_uc011dra.1_Missense_Mutation_p.D249G|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	303	WD 3.										0						CACTGACACATCCAGGTAGGT	0.517		NA											120	61					0	0	0	0
MAPK13	5603	broad.mit.edu	37	6	36104684	36104684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:36104684G>T	uc003ols.2	+	8	737	c.639G>T	c.(637-639)ATG>ATT	p.M213I	MAPK13_uc003olt.2_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	213	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						GCTGTATCATGGCAGAGATGC	0.527		NA											45	38					5.34e-22	7.58e-22	1	0
DNAH8	1769	broad.mit.edu	37	6	38877379	38877379	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:38877379G>T	uc003ooe.1	+	63	9548	c.8948G>T	c.(8947-8949)AGG>ATG	p.R2983M	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CGCTGGCCAAGGGAGGCTCTG	0.448		NA											63	49					3.83e-28	5.54e-28	1	0
CDC5L	988	broad.mit.edu	37	6	44392275	44392275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:44392275T>A	uc003oxl.2	+	11	1783	c.1524T>A	c.(1522-1524)GAT>GAA	p.D508E		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	508	Interaction with PPP1R8.|Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAAATAGATGATACTTACA	0.453		NA											4	73					0	0	0	0
RUNX2	860	broad.mit.edu	37	6	45405777	45405777	+	Missense_Mutation	SNP	G	G	T	rs104893991		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:45405777G>T	uc011dvx.1	+	5	884	c.674G>T	c.(673-675)CGG>CTG	p.R225L	RUNX2_uc011dvy.1_Missense_Mutation_p.R225L|RUNX2_uc003oxt.2_Missense_Mutation_p.R211L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	225	Runt.		R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation).|R -> L (in CLCD).|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						GATGGACCTCGGGAACCCAGA	0.413		NA											116	78					7.81e-50	1.17e-49	1	0
FAM83B	222584	broad.mit.edu	37	6	54806055	54806055	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:54806055G>A	uc003pck.2	+	5	2402	c.2286G>A	c.(2284-2286)AAG>AAA	p.K762K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	762										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGAAGTTAAGGGTTCCCCAA	0.378		NA											34	102					0	0	0	0
FILIP1	27145	broad.mit.edu	37	6	76124636	76124636	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:76124636C>A	uc003pia.2	-	2	426	c.53G>T	c.(52-54)TGT>TTT	p.C18F	FILIP1_uc003phy.1_Missense_Mutation_p.C18F|FILIP1_uc010kbe.2_Missense_Mutation_p.C21F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	18										skin(3)|ovary(1)	4						GGGCTTGGGACAGGAGATATG	0.423		NA											62	78					1.08e-31	1.57e-31	1	0
PHIP	55023	broad.mit.edu	37	6	79770397	79770397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:79770397G>T	uc003pir.2	-	5	554	c.328C>A	c.(328-330)CGC>AGC	p.R110S	PHIP_uc011dyp.1_Missense_Mutation_p.R110S	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	110					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTATTTGTGCGTAGTAAAGAC	0.318		NA											33	38					1.75e-11	2.23e-11	1	0
CNR1	1268	broad.mit.edu	37	6	88854007	88854007	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:88854007C>T	uc011dzq.1	-	2	4550	c.987G>A	c.(985-987)GTG>GTA	p.V329V	CNR1_uc010kbz.2_Silent_p.V329V|CNR1_uc011dzr.1_Silent_p.V329V|CNR1_uc011dzs.1_Silent_p.V329V|CNR1_uc003pmq.3_Silent_p.V329V|CNR1_uc011dzt.1_Silent_p.V329V|CNR1_uc010kca.2_Silent_p.V296V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	329	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGCCGGGTCACCTGTACCT	0.567		NA											53	68					0	0	0	0
DCBLD1	285761	broad.mit.edu	37	6	117825024	117825024	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:117825024A>G	uc003pxs.2	+	2	332	c.207A>G	c.(205-207)GAA>GAG	p.E69E	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.E69E	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	69	CUB.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTGTTTGCGAAAAGACAATTA	0.453		NA											42	235					0	0	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635271	118635271	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:118635271C>A	uc003pxx.3	+	8	1284	c.1083C>A	c.(1081-1083)GCC>GCA	p.A361A	SLC35F1_uc003pxy.1_Silent_p.A166A	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	361					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		CCTACATAGCCCAGGACCCCC	0.507		NA											48	262					6.3e-33	9.23e-33	1	0
HDDC2	51020	broad.mit.edu	37	6	125614026	125614026	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:125614026T>A	uc003qaa.1	-	4	543	c.339A>T	c.(337-339)CTA>CTT	p.L113L	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	113	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GGTCCTCTGGTAGGAGCTGGG	0.353		NA											170	136					0	0	0	0
NCOA7	135112	broad.mit.edu	37	6	126210575	126210575	+	Missense_Mutation	SNP	G	G	T	rs138843029		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:126210575G>T	uc010kes.2	+	11	1824	c.1375G>T	c.(1375-1377)GTG>TTG	p.V459L	NCOA7_uc003qae.3_Missense_Mutation_p.V459L|NCOA7_uc003qah.2_Missense_Mutation_p.V448L|NCOA7_uc003qai.2_Missense_Mutation_p.V459L|NCOA7_uc010ket.2_Missense_Mutation_p.V344L	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	459					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAATTCTGCCGTGGAAATGCA	0.453		NA											41	162					1.75e-18	2.4e-18	1	0
MED23	9439	broad.mit.edu	37	6	131946091	131946091	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:131946091A>G	uc003qcs.1	-	4	372	c.198T>C	c.(196-198)TTT>TTC	p.F66F	MED23_uc003qcq.2_Silent_p.F66F|MED23_uc003qct.1_Silent_p.F66F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	66					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACCATGAATAAACTTAACAA	0.378		NA											39	190					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144779941	144779941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:144779941G>T	uc003qkt.2	+	19	2412	c.2320G>T	c.(2320-2322)GAG>TAG	p.E774*	UTRN_uc010khq.1_Nonsense_Mutation_p.E774*	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	774	Interaction with SYNM.|Spectrin 5.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATGTTCTGGAGAAGGTTTC	0.328		NA											123	110					1e-38	1.49e-38	1	0
SYNE1	23345	broad.mit.edu	37	6	152469434	152469434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152469434T>A	uc010kiw.2	-	137	25324	c.24722A>T	c.(24721-24723)CAC>CTC	p.H8241L	SYNE1_uc010kiv.2_Missense_Mutation_p.H2765L|SYNE1_uc003qos.3_Missense_Mutation_p.H2765L|SYNE1_uc003qot.3_Missense_Mutation_p.H8170L|SYNE1_uc003qou.3_Missense_Mutation_p.H8241L|SYNE1_uc003qop.3_Missense_Mutation_p.H403L|SYNE1_uc011eez.1_Missense_Mutation_p.H443L|SYNE1_uc003qoq.3_Missense_Mutation_p.H443L|SYNE1_uc003qor.3_Missense_Mutation_p.H1141L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8241	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)		AGAGCGGTCGTGCCAGTGCAG	0.617		NA								HNSCC(10;0.0054)			32	75					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152623106	152623106	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152623106G>A	uc010kiw.2	-	92	18041	c.17439C>T	c.(17437-17439)ACC>ACT	p.T5813T	SYNE1_uc010kiv.2_Silent_p.T337T|SYNE1_uc003qos.3_Silent_p.T337T|SYNE1_uc003qot.3_Silent_p.T5742T|SYNE1_uc003qou.3_Silent_p.T5813T|SYNE1_uc010kiy.1_Silent_p.T35T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5813	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)		TCAGCAGCATGGTGGCGTGCT	0.597		NA								HNSCC(10;0.0054)			28	110					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152665308	152665308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152665308G>T	uc010kiw.2	-	74	12735	c.12133C>A	c.(12133-12135)CTG>ATG	p.L4045M	SYNE1_uc003qot.3_Missense_Mutation_p.L3974M|SYNE1_uc003qou.3_Missense_Mutation_p.L4045M|SYNE1_uc010kja.1_Missense_Mutation_p.L750M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4045	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)		CACTGCTGCAGGGTGTCTTGT	0.493		NA								HNSCC(10;0.0054)			111	84					1.47e-32	2.15e-32	1	0
SYNE1	23345	broad.mit.edu	37	6	152673332	152673332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152673332C>G	uc010kiw.2	-	70	12012	c.11410G>C	c.(11410-11412)GTC>CTC	p.V3804L	SYNE1_uc003qot.3_Missense_Mutation_p.V3789L|SYNE1_uc003qou.3_Missense_Mutation_p.V3804L|SYNE1_uc010kja.1_Missense_Mutation_p.V509L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3804	Cytoplasmic (Potential).|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)		TCTTTCCGGACAGTGCTGGTC	0.453		NA								HNSCC(10;0.0054)			204	184					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152690250	152690250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152690250C>G	uc010kiw.2	-	61	10266	c.9664G>C	c.(9664-9666)GAA>CAA	p.E3222Q	SYNE1_uc003qot.3_Missense_Mutation_p.E3229Q|SYNE1_uc003qou.3_Missense_Mutation_p.E3222Q|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.E300Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3222	Spectrin 6.|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)		CAGTGTATTTCCTCAAGGACA	0.502		NA								HNSCC(10;0.0054)			4	93					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152757237	152757237	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152757237C>A	uc010kiw.2	-	33	4752	c.4150_splice	c.e33-1	p.E1384_splice	SYNE1_uc003qot.3_Splice_Site_p.E1391_splice|SYNE1_uc003qou.3_Splice_Site_p.E1384_splice|SYNE1_uc010kjb.1_Splice_Site_p.E1367_splice|SYNE1_uc003qow.2_Splice_Site_p.E679_splice|SYNE1_uc003qox.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		TAGAAAACTCCTAGAAAAAAT	0.398		NA								HNSCC(10;0.0054)			88	65					1.67e-50	2.51e-50	1	0
ARID1B	57492	broad.mit.edu	37	6	157469762	157469762	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157469762C>G	uc003qqn.2	+	8	2495	c.2343C>G	c.(2341-2343)AAC>AAG	p.N781K	ARID1B_uc003qqo.2_Missense_Mutation_p.N794K|ARID1B_uc003qqp.2_Missense_Mutation_p.N781K|ARID1B_uc003qqq.1_Missense_Mutation_p.N223K|ARID1B_uc010kjl.2_5'UTR	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	839					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTTAGGTAACTACTCCAGAC	0.473		NA											53	286					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11675973	11675973	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:11675973C>A	uc003ssf.3	-	2	1058	c.806G>T	c.(805-807)CGA>CTA	p.R269L		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	269	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTTACTTGTCGGGAGTGGGG	0.557		NA								HNSCC(18;0.044)			52	104					2.73e-35	4.02e-35	1	0
ITGB8	3696	broad.mit.edu	37	7	20449331	20449331	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:20449331A>T	uc003suu.2	+	13	2822	c.2117A>T	c.(2116-2118)CAG>CTG	p.Q706L	ITGB8_uc011jyh.1_Missense_Mutation_p.Q571L	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	706	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						ATCATTAGACAGGTGATACTA	0.338		NA											57	127					0	0	0	0
KLHL7	55975	broad.mit.edu	37	7	23205333	23205333	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:23205333A>G	uc003svs.3	+	8	1246	c.953A>G	c.(952-954)GAC>GGC	p.D318G	KLHL7_uc003svr.3_Missense_Mutation_p.D296G|KLHL7_uc011jys.1_Missense_Mutation_p.D242G|KLHL7_uc011jyt.1_Missense_Mutation_p.D93G|KLHL7_uc003svt.2_Missense_Mutation_p.D270G|KLHL7_uc011jyv.1_Missense_Mutation_p.D93G	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	318	Kelch 1.					Golgi apparatus|nucleolus|plasma membrane					0						AGCTGGACAGACATCCGCTGC	0.403		NA											26	52					0	0	0	0
ANLN	54443	broad.mit.edu	37	7	36478884	36478884	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:36478884A>T	uc003tff.2	+	21	3159	c.2955A>T	c.(2953-2955)GAA>GAT	p.E985D	ANLN_uc011kaz.1_Missense_Mutation_p.E897D|ANLN_uc003tfg.2_Missense_Mutation_p.E948D|ANLN_uc010kxe.2_Missense_Mutation_p.E947D	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	985	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CCAGTGTTGAAGAAAGAGGTT	0.308		NA											16	28					0	0	0	0
AMPH	273	broad.mit.edu	37	7	38505100	38505100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:38505100G>C	uc003tgu.2	-	9	785	c.716C>G	c.(715-717)GCC>GGC	p.A239G	AMPH_uc003tgv.2_Missense_Mutation_p.A239G|AMPH_uc003tgt.2_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	239	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GGCCTTGTCGGCGTGCTGGTC	0.507		NA											7	5					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43400528	43400528	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:43400528G>T	uc003tid.1	+	6	1109	c.504G>T	c.(502-504)GGG>GGT	p.G168G	HECW1_uc011kbi.1_Silent_p.G168G|HECW1_uc003tie.1_Silent_p.G200G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGTGAGTGGGGCCCTGCGAG	0.478		NA											28	91					5.46e-16	7.32e-16	1	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:53103940C>T	uc003tpz.2	+	1	592	c.576C>T	c.(574-576)TTC>TTT	p.F192F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	192											0						GCGCTAGGTTCGACGGGCCGT	0.587		NA											25	63					0	0	0	0
CACNA2D1	781	broad.mit.edu	37	7	81693671	81693671	+	Splice_Site	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:81693671C>G	uc003uhr.1	-	9	985	c.729_splice	c.e9-1	p.W243_splice		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha							voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTGGATGTACCTGAAACAAAT	0.323		NA											24	63					0	0	0	0
DLX5	1749	broad.mit.edu	37	7	96650315	96650315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:96650315C>T	uc003uon.2	-	3	811	c.603G>A	c.(601-603)ATG>ATA	p.M201I		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	201					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCTCCGGGGGCATCTCCCCGT	0.577		NA											23	63					0	0	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280797	100280797	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100280797C>G	uc003uwg.1	-	19	3259	c.2250G>C	c.(2248-2250)GTG>GTC	p.V750V		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	750										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCGGGGGGCACAGGGACCG	0.677		NA											8	18					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100377308	100377308	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100377308C>A	uc003uwj.2	+	36	6723	c.6558C>A	c.(6556-6558)GCC>GCA	p.A2186A	ZAN_uc003uwk.2_Silent_p.A2186A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2186	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCTGCAAGCCTTCGGGGCCA	0.642		NA											3	8					0.004672	0.00495827	1	0
RELN	5649	broad.mit.edu	37	7	103290782	103290782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:103290782G>T	uc003vca.2	-	16	2101	c.1941C>A	c.(1939-1941)AAC>AAA	p.N647K	RELN_uc010liz.2_Missense_Mutation_p.N647K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	647					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCTGGTGTTCCGGGTTA	0.423		NA											23	80					3.29e-13	4.28e-13	1	0
CDHR3	222256	broad.mit.edu	37	7	105603804	105603804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:105603804A>G	uc003vdl.3	+	1	148	c.40A>G	c.(40-42)ATG>GTG	p.M14V	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.M14V|CDHR3_uc011klt.1_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	14					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCTGGGTGCCATGTCAGGTAG	0.488		NA											85	163					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106507993	106507993	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106507993A>T	uc003vdv.3	+	2	74	c.-11_splice	c.e2-2		PIK3CG_uc003vdu.2_Splice_Site|PIK3CG_uc003vdw.2_Splice_Site	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma						G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CTCCGCTCCCAGGTCGCATAG	0.567		NA											37	101					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509367	106509368	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509367_106509368CC>AA	uc003vdv.3	+	2	1446_1447	c.1361_1362CC>AA	c.(1360-1362)TCC>TAA	p.S454*	PIK3CG_uc003vdu.2_Nonsense_Mutation_p.S454*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.S454*	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	454					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AGTTCTGAGTCCAAGGGCAAAG	0.53		NA											39	99					0	0	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787212	122787213	+	Splice_Site	DNP	CG	CG	TA	rs150284958		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787212_122787213CG>TA	uc003vkm.2	-	7	837	c.812_splice	c.e7+1	p.T271_splice	SLC13A1_uc010lks.2_Splice_Site_p.T147_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate							integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	AGGTTACTTACGTATTGAAATA	0.356		NA											35	38					0	0	0	0
GPR37	2861	broad.mit.edu	37	7	124387211	124387211	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:124387211T>A	uc003vli.2	-	2	1861	c.1210A>T	c.(1210-1212)AGC>TGC	p.S404C		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	404	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TCCTCCTTGCTCAGCTGGCGG	0.473		NA											44	104					0	0	0	0
LRRC4	64101	broad.mit.edu	37	7	127670179	127670179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:127670179G>A	uc003vmk.2	-	2	652	c.515C>T	c.(514-516)TCC>TTC	p.S172F	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	172	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCGCATGAGGGAGGGCACCCG	0.567		NA											56	117					0	0	0	0
MKLN1	4289	broad.mit.edu	37	7	131128284	131128284	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:131128284T>C	uc011kpm.1	+	11	1282	c.1218T>C	c.(1216-1218)GGT>GGC	p.G406G	MKLN1_uc011kpl.1_Silent_p.G383G|MKLN1_uc010lmh.2_Silent_p.G406G|MKLN1_uc003vqs.2_Silent_p.G199G	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	406					signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					CTTTTGGTGGTAGAATTTTGA	0.393		NA											5	119					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141719028	141719028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141719028G>A	uc003vwy.2	+	4	411	c.357G>A	c.(355-357)TGG>TGA	p.W119*		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	119	P-type 1.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGTTGCTGGAATCCCCAGG	0.448		NA											38	112					0	0	0	0
CLCN1	1180	broad.mit.edu	37	7	143028713	143028713	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:143028713G>A	uc003wcr.1	+	10	1221	c.1134G>A	c.(1132-1134)AAG>AAA	p.K378K	CLCN1_uc011ktc.1_Silent_p.K40K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	378					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					GTGTCCGAAAGCACAAGGCCC	0.478		NA											37	93					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149473575	149473575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:149473575G>A	uc010lpk.2	+	2	191	c.191G>A	c.(190-192)GGG>GAG	p.G64E	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	64	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCGCTCGGGGCTTACCCGG	0.662		NA											4	6					0	0	0	0
PTK2B	2185	broad.mit.edu	37	8	27311740	27311740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27311740C>T	uc003xfn.1	+	34	3473	c.2665C>T	c.(2665-2667)CGG>TGG	p.R889W	PTK2B_uc003xfo.1_Missense_Mutation_p.R889W|PTK2B_uc003xfp.1_Missense_Mutation_p.R889W|PTK2B_uc003xfq.1_Missense_Mutation_p.R847W	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	889	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAGCTGGTGCGGGCCGTGCT	0.622		NA											30	26					0	0	0	0
PBK	55872	broad.mit.edu	37	8	27668593	27668593	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27668593C>T	uc003xgi.2	-	7	855	c.654G>A	c.(652-654)GTG>GTA	p.V218V	ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Silent_p.V229V	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	218	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CATTCTCCTCCACAGCTTCTT	0.413		NA											26	30					0	0	0	0
C8orf34	116328	broad.mit.edu	37	8	69633639	69633639	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:69633639C>A	uc010lyz.2	+	10	1162	c.1113C>A	c.(1111-1113)GAC>GAA	p.D371E	C8orf34_uc003xyb.2_Missense_Mutation_p.D346E	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	371					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGAGGGTGACGAATTTGAGA	0.279		NA											31	36					8.16e-20	1.14e-19	1	0
XKR9	389668	broad.mit.edu	37	8	71646336	71646336	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:71646336G>T	uc003xyq.2	+	5	1333	c.799G>T	c.(799-801)GTT>TTT	p.V267F	XKR9_uc010lze.2_Missense_Mutation_p.V267F|XKR9_uc010lzd.2_Missense_Mutation_p.V135F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	267	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGGATTGTTGTTGGATTCAT	0.313		NA											52	61					2.28e-18	3.12e-18	1	0
TRPA1	8989	broad.mit.edu	37	8	72973870	72973870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:72973870T>C	uc003xza.2	-	7	1109	c.934A>G	c.(934-936)ATG>GTG	p.M312V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	312	ANK 8.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGAAGCATGGTCTCATGA	0.423		NA											91	77					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775986	77775986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:77775986C>G	uc003yav.2	+	11	10288	c.9901C>G	c.(9901-9903)CAG>GAG	p.Q3301E		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			gAAACCAGTTCAGGCAAAGAC	0.259		NA								HNSCC(33;0.089)			3	3					0	0	0	0
RALYL	138046	broad.mit.edu	37	8	85799925	85799926	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799925_85799926CC>AA	uc003ycq.3	+	9	1188_1189	c.772_773CC>AA	c.(772-774)CCT>AAT	p.P258N	RALYL_uc003ycr.3_Missense_Mutation_p.P258N|RALYL_uc003ycs.3_Missense_Mutation_p.P258N|RALYL_uc010lzy.2_Missense_Mutation_p.P247N|RALYL_uc003yct.3_Missense_Mutation_p.P271N|RALYL_uc003ycu.3_Missense_Mutation_p.P185N|RALYL_uc003ycv.3_Intron	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	258							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TACAGAGGAGCCTGCTGAAGGA	0.51		NA											85	79					0	0	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307834	92307834	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:92307834C>A	uc003yex.2	+	5	658	c.380C>A	c.(379-381)ACC>AAC	p.T127N	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.T127N|SLC26A7_uc003yfa.2_Missense_Mutation_p.T127N	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	127	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGAATCTCACCACACAGAGT	0.498		NA											11	152					0.00829132	0.00875644	1	0
RIMS2	9699	broad.mit.edu	37	8	105105870	105105870	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:105105870A>T	uc003yls.2	+	21	3134	c.2893A>T	c.(2893-2895)AGA>TGA	p.R965*	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1038C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGAAAATCAGGTAAGGGGA	0.368		NA								HNSCC(12;0.0054)			50	28					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113326813	113326813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113326813G>A	uc003ynu.2	-	48	7553	c.7394C>T	c.(7393-7395)TCT>TTT	p.S2465F	CSMD3_uc003yns.2_Missense_Mutation_p.S1667F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2425F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2361F|CSMD3_uc003ynw.1_Missense_Mutation_p.S176F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2465	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GACTCCAGTAGAATCTAGCCG	0.388		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	29					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113504751	113504751	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113504751G>T	uc003ynu.2	-	31	5404	c.5245C>A	c.(5245-5247)CCT>ACT	p.P1749T	CSMD3_uc003yns.2_Missense_Mutation_p.P1021T|CSMD3_uc003ynt.2_Missense_Mutation_p.P1709T|CSMD3_uc011lhx.1_Missense_Mutation_p.P1645T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1749	Extracellular (Potential).|Sushi 9.					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						TTCCATCCAGGTCTTCCATCA	0.348		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	167					7.42e-09	9.15e-09	1	0
FAM135B	51059	broad.mit.edu	37	8	139380222	139380222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139380222G>A	uc003yuy.2	-	2	176	c.5C>T	c.(4-6)TCT>TTT	p.S2F	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	2										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTATTTCAGACATGATCTT	0.343		NA								HNSCC(54;0.14)			77	99					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139620234	139620234	+	Splice_Site	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139620234T>G	uc003yvd.2	-	57	4426	c.3979_splice	c.e57-1	p.G1327_splice	COL22A1_uc011ljo.1_Splice_Site_p.G607_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCTTGCCCTGGTGGAAGAA	0.383		NA								HNSCC(7;0.00092)			21	108					0	0	0	0
KCNK9	51305	broad.mit.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:140630763G>A	uc003yvf.1	-	2	927	c.863C>T	c.(862-864)GCG>GTG	p.A288V	KCNK9_uc003yvg.1_Missense_Mutation_p.A288V|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.A288V(1)		ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGGACGTCCGCCTTGTACCT	0.667		NA											77	62					0	0	0	0
TSNARE1	203062	broad.mit.edu	37	8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:143381940C>A	uc003ywk.2	-	10	1315	c.1197G>T	c.(1195-1197)ATG>ATT	p.M399I	TSNARE1_uc011lju.1_Missense_Mutation_p.M398I|TSNARE1_uc003ywj.2_Missense_Mutation_p.M400I|TSNARE1_uc003ywl.3_Missense_Mutation_p.M180I	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607		NA											15	163					2.63e-14	3.46e-14	1	0
SLC39A4	55630	broad.mit.edu	37	8	145642057	145642057	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:145642057C>A	uc003zcq.2	-	1	217	c.117G>T	c.(115-117)CTG>CTT	p.L39L	SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_5'Flank	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	39	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTCTTGATCCAGAGCGCCCT	0.682		NA											15	11					2.32e-05	2.64e-05	1	0
DOCK8	81704	broad.mit.edu	37	9	312083	312083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:312083G>A	uc003zgf.2	+	6	770	c.658G>A	c.(658-660)GAG>AAG	p.E220K	DOCK8_uc011lls.1_Missense_Mutation_p.E220K|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.E152K|DOCK8_uc010mgt.2_Missense_Mutation_p.E152K|DOCK8_uc003zgg.2_Missense_Mutation_p.E152K|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	220					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGAGTGCCGAGGACTTTGA	0.597		NA											56	95					0	0	0	0
KANK1	23189	broad.mit.edu	37	9	713363	713363	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:713363T>C	uc003zgl.1	+	7	3246	c.2597T>C	c.(2596-2598)CTC>CCC	p.L866P	KANK1_uc003zgm.2_Missense_Mutation_p.L866P|KANK1_uc003zgn.1_Missense_Mutation_p.L866P|KANK1_uc003zgo.1_Missense_Mutation_p.L866P|KANK1_uc003zgp.1_Missense_Mutation_p.L866P|KANK1_uc003zgq.2_Missense_Mutation_p.L708P|KANK1_uc003zgr.1_Missense_Mutation_p.L708P|KANK1_uc003zgs.1_Missense_Mutation_p.L708P	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	866					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACTCTCAGCTCATCAGCACC	0.512		NA											91	94					0	0	0	0
OR13J1	392309	broad.mit.edu	37	9	35869982	35869982	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:35869982C>G	uc011lph.1	-	1	417	c.417G>C	c.(415-417)CGG>CGC	p.R139R		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCACGCAGAGCCGGTGGCTCA	0.637		NA											34	68					0	0	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177139	70177139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:70177139G>T	uc010moc.2	-	1	1677	c.845C>A	c.(844-846)CCG>CAG	p.P282Q		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	282					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TGCTTTCTTCGGTGCCCCGGC	0.677		NA											17	97					3.08e-08	3.78e-08	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71503929	71503929	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71503929G>A	uc004agu.2	+	7	656	c.351G>A	c.(349-351)CTG>CTA	p.L117L	PIP5K1B_uc011lrq.1_Silent_p.L117L|PIP5K1B_uc004agv.2_RNA	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	117	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			stomach(1)	1				Lung(182;0.133)		TAATAGAACTGTCTAACCCTG	0.383		NA											54	130					0	0	0	0
TJP2	9414	broad.mit.edu	37	9	71845118	71845118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71845118G>T	uc004ahe.2	+	11	1841	c.1641G>T	c.(1639-1641)GAG>GAT	p.E547D	TJP2_uc011lrs.1_Missense_Mutation_p.E524D|TJP2_uc011lrt.1_Missense_Mutation_p.E524D|TJP2_uc004ahd.2_Missense_Mutation_p.E547D|TJP2_uc004ahf.2_Missense_Mutation_p.E547D|TJP2_uc011lru.1_Missense_Mutation_p.E551D|TJP2_uc011lrv.1_Missense_Mutation_p.E569D	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	547	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CGGAGCAGGAGGGCCTTCAAG	0.517		NA											37	55					3.78e-11	4.8e-11	1	0
TMC1	117531	broad.mit.edu	37	9	75445586	75445586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:75445586G>T	uc004aiz.1	+	23	2788	c.2248G>T	c.(2248-2250)GCT>TCT	p.A750S	TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A604S|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	750	Cytoplasmic (Potential).|Poly-Ala.				sensory perception of sound	integral to membrane				ovary(1)	1						GAAAATGGCAGCTGCACGAGC	0.284		NA											9	33					0.00829132	0.00875644	1	0
S1PR3	1903	broad.mit.edu	37	9	91616672	91616672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:91616672C>T	uc004aqe.2	+	2	953	c.557C>T	c.(556-558)TCT>TTT	p.S186F		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	186	Extracellular (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						CCTGACTGCTCTACCATCCTG	0.577		NA									OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	67					0	0	0	0
OR1N2	138882	broad.mit.edu	37	9	125315759	125315759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:125315759C>A	uc011lyx.1	+	1	311	c.311C>A	c.(310-312)ACC>AAC	p.T104N		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	104	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						AACATTCATACCCAGAGTCAG	0.478		NA											86	162					1.13e-72	1.71e-72	1	0
NDOR1	27158	broad.mit.edu	37	9	140108321	140108321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:140108321A>G	uc004clw.2	+	4	512	c.401A>G	c.(400-402)CAT>CGT	p.H134R	NDOR1_uc004clx.2_Missense_Mutation_p.H134R|NDOR1_uc011mes.1_Missense_Mutation_p.H134R|NDOR1_uc004cly.2_Missense_Mutation_p.H134R	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	134	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GATGACCAGCATGAGCTGGGG	0.677		NA											17	10					0	0	0	0
MSL3	10943	broad.mit.edu	37	X	11783734	11783734	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:11783734C>A	uc004cuw.2	+	9	1162	c.1057C>A	c.(1057-1059)CGC>AGC	p.R353S	MSL3_uc004cuv.1_Missense_Mutation_p.R353S|MSL3_uc004cux.2_Missense_Mutation_p.R294S|MSL3_uc011mig.1_Missense_Mutation_p.R204S|MSL3_uc011mih.1_Missense_Mutation_p.R341S|MSL3_uc004cuy.2_Missense_Mutation_p.R187S	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	353					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCGGTCCACGCGCCACAGTGC	0.622		NA											44	42					8.48e-36	1.25e-35	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237175	30237175	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:30237175C>A	uc004dbz.2	+	2	581	c.478C>A	c.(478-480)CTC>ATC	p.L160I		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	160	MAGE.						protein binding			ovary(1)	1						CTCTGAGGGCCTCAGTGTTGT	0.463		NA											14	6					9.31e-06	1.08e-05	1	0
BCOR	54880	broad.mit.edu	37	X	39933957	39933957	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:39933957T>A	uc004den.3	-	4	934	c.642A>T	c.(640-642)TCA>TCT	p.S214S	BCOR_uc004dep.3_Silent_p.S214S|BCOR_uc004deo.3_Silent_p.S214S|BCOR_uc004dem.3_Silent_p.S214S|BCOR_uc004deq.3_Silent_p.S214S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	214					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ACATGTTCAGTGAATACTTAT	0.542		NA											55	22					0	0	0	0
MED14	9282	broad.mit.edu	37	X	40513656	40513656	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:40513656G>A	uc004dex.3	-	30	4391	c.4251C>T	c.(4249-4251)AAC>AAT	p.N1417N	MED14_uc004dey.1_Silent_p.N319N	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1417					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						TCTTCAGAATGTTGCTGACCA	0.418		NA											41	18					0	0	0	0
SPIN4	139886	broad.mit.edu	37	X	62570269	62570269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:62570269G>C	uc004dvf.2	-	1	950	c.430C>G	c.(430-432)CGA>GGA	p.R144G		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	144					gamete generation					ovary(1)|lung(1)	2						ACAGGAGCTCGCGCCAGGACC	0.478		NA											54	36					0	0	0	0
ZMYM3	9203	broad.mit.edu	37	X	70467681	70467681	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70467681T>G	uc004dzh.1	-	12	2138	c.2051A>C	c.(2050-2052)CAG>CCG	p.Q684P	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.Q684P|ZMYM3_uc004dzj.1_Missense_Mutation_p.Q684P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	684	MYM-type 8.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CTGGCAGGTCTGGGAGCAGTA	0.532		NA											19	5					0	0	0	0
CXCR3	2833	broad.mit.edu	37	X	70836725	70836725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70836725G>A	uc004eaf.2	-	2	665	c.597C>T	c.(595-597)AAC>AAT	p.N199N	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.N246N	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	199	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					AGTGGGTGGCGTTGAGGCGCT	0.632		NA											7	3					0	0	0	0
RLIM	51132	broad.mit.edu	37	X	73811532	73811532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:73811532C>T	uc004ebu.2	-	5	1908	c.1618G>A	c.(1618-1620)GAT>AAT	p.D540N	RLIM_uc004ebw.2_Missense_Mutation_p.D540N	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCATCATCATCCTCATTTAAG	0.453		NA											16	11					0	0	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:123504071C>A	uc004euf.3	+	3	592	c.247C>A	c.(247-249)CTC>ATC	p.L83I	SH2D1A_uc004euh.3_Missense_Mutation_p.L83I|SH2D1A_uc004eug.3_Intron|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	SH2 domain protein 1A isoform 1	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity				0						AATAAAAAATCTCATTTCAGC	0.373		NA							X-linked_Lymphoproliferative_syndrome				66	34					2.18e-39	3.23e-39	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995750	140995750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:140995750C>T	uc004fbt.2	+	4	2846	c.2560C>T	c.(2560-2562)CCT>TCT	p.P854S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	854							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGATCTC	0.507		NA								HNSCC(15;0.026)			99	74					0	0	0	0
AFF2	2334	broad.mit.edu	37	X	148037568	148037568	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:148037568G>C	uc004fcp.2	+	11	2472	c.1993G>C	c.(1993-1995)GAC>CAC	p.D665H	AFF2_uc004fcq.2_Missense_Mutation_p.D655H|AFF2_uc004fcr.2_Missense_Mutation_p.D626H|AFF2_uc011mxb.1_Missense_Mutation_p.D630H|AFF2_uc004fcs.2_Missense_Mutation_p.D632H|AFF2_uc011mxc.1_Missense_Mutation_p.D306H	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	665					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCATGACCCACCAAG	0.488		NA											56	45					0	0	0	0
ABCD1	215	broad.mit.edu	37	X	153009062	153009062	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:153009062C>A	uc004fif.2	+	10	2510	c.2111C>A	c.(2110-2112)GCG>GAG	p.A704E	ABCD1_uc004fig.2_Missense_Mutation_p.A204E|ABCD1_uc004fih.2_RNA	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	704					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTGGCGGGCATTCCC	0.682		NA											4	2					2.01e-06	2.37e-06	1	0
C1orf159	54991	broad.mit.edu	37	1	1021283	1021283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:1021283delG	uc001act.2	-	9	1014	c.528delC	c.(526-528)CCCfs	p.P176fs	C1orf159_uc001acu.2_Frame_Shift_Del_p.P140fs|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Frame_Shift_Del_p.P140fs|C1orf159_uc009vju.1_Frame_Shift_Del_p.P118fs|C1orf159_uc001acn.2_Frame_Shift_Del_p.P140fs|C1orf159_uc001acp.2_Frame_Shift_Del_p.P140fs	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	hypothetical protein LOC54991	176						integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGCAGGCCCTGGGGAGTTTAC	0.627		NA											12	47	---	---	---	---	NA	NA	NA	NA
CSMD2	114784	broad.mit.edu	37	1	34066567	34066567	+	Frame_Shift_Del	DEL	G	G	-	rs114879806	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:34066567delG	uc001bxn.1	-	45	6789	c.6760delC	c.(6760-6762)CGGfs	p.R2254fs	CSMD2_uc001bxm.1_Frame_Shift_Del_p.R2252fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.R1125fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2254	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCATGCTCCGGGTGAAGACG	0.572		NA											68	201	---	---	---	---	NA	NA	NA	NA
HMCN1	83872	broad.mit.edu	37	1	185878573	185878574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185878573_185878574insA	uc001grq.1	+	5	955_956	c.726_727insA	c.(724-729)CCCAGCfs	p.P242fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	242_243					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTTTTGATCCCAGCCTGAAAGA	0.391		NA											19	74	---	---	---	---	NA	NA	NA	NA
ACTN2	88	broad.mit.edu	37	1	236882193	236882193	+	Splice_Site	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:236882193delG	uc001hyf.2	+	3	446	c.242_splice	c.e3-1	p.G81_splice	ACTN2_uc001hyg.2_Splice_Site|ACTN2_uc009xgi.1_Splice_Site_p.G81_splice	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCCAACAGGGGAAAGGCT	0.433		NA											20	71	---	---	---	---	NA	NA	NA	NA
OR8D4	338662	broad.mit.edu	37	11	123777721	123777721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:123777721delG	uc010saa.1	+	1	583	c.583delG	c.(583-585)GATfs	p.D195fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CACTTATATTGATGAGCTTTT	0.373		NA											91	107	---	---	---	---	NA	NA	NA	NA
CHRNA5	1138	broad.mit.edu	37	15	78878992	78878993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:78878992_78878993insA	uc002bdy.2	+	3	426_427	c.264_265insA	c.(262-267)GAGAAAfs	p.E88fs	CHRNA5_uc002bdz.2_Frame_Shift_Ins_p.E88fs	NM_000745	NP_000736	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5	88_89	Extracellular (Potential).				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3						taaaGGATGAGAAAAATCAGTT	0.262		NA											89	115	---	---	---	---	NA	NA	NA	NA
MC2R	4158	broad.mit.edu	37	18	13885215	13885216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13885215_13885216insG	uc002ksp.1	-	2	479_480	c.302_303insC	c.(301-303)ACAfs	p.T101fs		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	101	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTCATCGGCTGTGGTTTCAAA	0.48		NA											9	299	---	---	---	---	NA	NA	NA	NA
FBXO11	80204	broad.mit.edu	37	2	48059803	48059804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48059803_48059804insT	uc010fbl.2	-	10	1029_1030	c.915_916insA	c.(913-918)GTATGTfs	p.V305fs	FBXO11_uc002rwe.2_Frame_Shift_Ins_p.V305fs|FBXO11_uc002rwf.2_Frame_Shift_Ins_p.V305fs|FBXO11_uc002rwg.1_Frame_Shift_Ins_p.V305fs|FBXO11_uc010fbk.2_5'Flank	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	389_390					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACTAACACATACTGCAGAAC	0.332		NA											41	78	---	---	---	---	NA	NA	NA	NA
SBF1	6305	broad.mit.edu	37	22	50899572	50899589	+	Splice_Site	DEL	GCGCACCGCGCCCCACCT	GCGCACCGCGCCCCACCT	-	rs115010488	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT	uc003blh.2	-	23	3162	c.2967_splice	c.e23+1	p.Q989_splice	SBF1_uc011arx.1_Splice_Site_p.Q653_splice|SBF1_uc003bli.2_3'UTR	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCA	0.624		NA											9	28	---	---	---	---	NA	NA	NA	NA
CLSTN2	64084	broad.mit.edu	37	3	140122626	140122626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:140122626delG	uc003etn.2	+	3	578	c.388delG	c.(388-390)GGTfs	p.G130fs	CLSTN2_uc003etm.2_Frame_Shift_Del_p.G130fs	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	130	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CTATGACTGTGGTGCTGGGCC	0.587		NA								HNSCC(16;0.037)			52	108	---	---	---	---	NA	NA	NA	NA
SPATA16	83893	broad.mit.edu	37	3	172835328	172835329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:172835328_172835329insT	uc003fin.3	-	2	351_352	c.193_194insA	c.(193-195)ATGfs	p.M65fs		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	65					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCCCTTTGTCATTTTTGTTCTT	0.401		NA											84	305	---	---	---	---	NA	NA	NA	NA
EPHB3	2049	broad.mit.edu	37	3	184294701	184294701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184294701delC	uc003foz.2	+	5	1521	c.1084delC	c.(1084-1086)CCCfs	p.P362fs		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	362	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P362P(1)		lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTGGAGTGAGCCCCGGGACCT	0.577		NA											56	163	---	---	---	---	NA	NA	NA	NA
PAK2	5062	broad.mit.edu	37	3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:196541368delG	uc003fwy.3	+	11	1304	c.982delG	c.(982-984)GGGfs	p.G328fs		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	328	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408		NA											63	204	---	---	---	---	NA	NA	NA	NA
NSD1	64324	broad.mit.edu	37	5	176700778	176700779	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:176700778_176700779delAT	uc003mfr.3	+	17	5753_5754	c.5615_5616delAT	c.(5614-5616)CATfs	p.H1872fs	NSD1_uc003mft.3_Frame_Shift_Del_p.H1603fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.H1769fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.H1520fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1872					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)		CCTTATAAACATATAAAGGTGA	0.45		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			21	25	---	---	---	---	NA	NA	NA	NA
SAMD3	154075	broad.mit.edu	37	6	130497054	130497054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:130497054delG	uc003qbv.2	-	9	1080	c.754delC	c.(754-756)CGAfs	p.R252fs	SAMD3_uc003qbx.2_Frame_Shift_Del_p.R252fs|SAMD3_uc003qbw.2_Frame_Shift_Del_p.R252fs|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	252										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGCCTCTTCGGTGTCCAAAT	0.348		NA											53	246	---	---	---	---	NA	NA	NA	NA
ARID1B	57492	broad.mit.edu	37	6	157470017	157470018	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157470017_157470018delTG	uc003qqn.2	+	8	2750_2751	c.2598_2599delTG	c.(2596-2601)ACTGTGfs	p.T866fs	ARID1B_uc003qqo.2_Frame_Shift_Del_p.T879fs|ARID1B_uc003qqp.2_Frame_Shift_Del_p.T866fs|ARID1B_uc003qqq.1_Frame_Shift_Del_p.T308fs|ARID1B_uc010kjl.2_Frame_Shift_Del_p.T64fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	924_925					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATGCCAACTGTGAACCGTAA	0.604		NA											47	43	---	---	---	---	NA	NA	NA	NA
PKHD1L1	93035	broad.mit.edu	37	8	110453596	110453596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:110453596delG	uc003yne.2	+	34	4296	c.4192delG	c.(4192-4194)GGGfs	p.G1398fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1398	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCAACAATGGGAAAGATTC	0.279		NA								HNSCC(38;0.096)			11	32	---	---	---	---	NA	NA	NA	NA
C9orf72	203228	broad.mit.edu	37	9	27561618	27561620	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:27561618_27561620delATC	uc003zqq.2	-	5	725_727	c.628_630delGAT	c.(628-630)GATdel	p.D210del	C9orf72_uc003zqr.1_In_Frame_Del_p.D210del	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	210										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGTCACCAATATCATCATCATTG	0.315		NA											29	98	---	---	---	---	NA	NA	NA	NA
SYK	6850	broad.mit.edu	37	9	93606272	93606273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:93606272_93606273insG	uc004aqz.2	+	2	297_298	c.92_93insG	c.(91-93)CAGfs	p.Q31fs	SYK_uc004aqy.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004ara.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004arb.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004arc.2_Frame_Shift_Ins_p.Q31fs|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	31	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TACCTGGTCCAGGGGGGCATGA	0.619		NA	T	ETV6|ITK	MDS|peripheral T-cell lymphoma								17	18	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139407552	139407552	+	Frame_Shift_Del	DEL	C	C	-	rs143360959	by1000genomes	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:139407552delC	uc004chz.2	-	15	2388	c.2388delG	c.(2386-2388)GCGfs	p.A796fs	NOTCH1_uc004cia.1_Frame_Shift_Del_p.A26fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	796	Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGGTTGGACGCACACTCGT	0.622		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			26	36	---	---	---	---	NA	NA	NA	NA
KDM6A	7403	broad.mit.edu	37	X	44733171	44733172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:44733171_44733172insG	uc004dge.3	+	2	538_539	c.163_164insG	c.(163-165)CGCfs	p.R55fs	KDM6A_uc010nhk.2_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mkz.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	55					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TCTCCACAGCCGCCTCTTTGGG	0.649		NA	D|N|F|S		renal|oesophageal SCC|MM								20	10	---	---	---	---	NA	NA	NA	NA