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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
AURKAIP1	54998	broad.mit.edu	37	1	1309389	1309389	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:1309389T>C	uc001afb.1	-	2	599	c.489A>G	c.(487-489)AGA>AGG	p.R163R	AURKAIP1_uc001afc.2_Silent_p.R163R|AURKAIP1_uc001afd.2_Silent_p.R163R|AURKAIP1_uc009vkb.1_Silent_p.R163R	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	163					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGCTTGCGTCTCAGGCGTC	0.602			NA											25	78					0	0	0.003954	0	0
IGSF21	84966	broad.mit.edu	37	1	18691759	18691759	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:18691759C>A	uc001bau.1	+	6	966	c.583C>A	c.(583-585)CTA>ATA	p.L195I	IGSF21_uc001bav.1_Missense_Mutation_p.L16I	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	195						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCAGTGCCCCTATCAGAGCC	0.547			NA											16	77					1.5739e-10	2.10313e-10	0.004007	1	0
SCP2	6342	broad.mit.edu	37	1	53446082	53446082	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:53446082G>A	uc001cur.1	+	10	961	c.840G>A	c.(838-840)ATG>ATA	p.M280I	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.M199I|SCP2_uc010onp.1_Missense_Mutation_p.M256I|SCP2_uc009vzi.1_Missense_Mutation_p.M236I|SCP2_uc001cuq.1_Missense_Mutation_p.M236I	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	280					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						GCTTTGATATGAGTAAAGAAG	0.353			NA											25	94					0	0	0.00632	0	0
CACHD1	57685	broad.mit.edu	37	1	65098409	65098409	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:65098409A>G	uc001dbo.1	+	6	724	c.619A>G	c.(619-621)ATC>GTC	p.I207V	CACHD1_uc001dbp.1_Intron|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	258	Extracellular (Potential).|VWFA.				calcium ion transport	integral to membrane				ovary(2)	2						CCTCAGCGCCATCGATGAACA	0.468			NA											8	62					0	0	0.006214	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819936	70819936	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:70819936C>T	uc001dex.3	-	1	482	c.156G>A	c.(154-156)AAG>AAA	p.K52K	ANKRD13C_uc009wbk.2_Silent_p.K52K|ANKRD13C_uc001dey.3_Silent_p.K52K|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	52					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						TACTGAAGATCTTATGACAAG	0.632			NA											28	170					0	0	0.00632	0	0
AGL	178	broad.mit.edu	37	1	100356810	100356810	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:100356810G>T	uc001dsi.1	+	22	3247	c.2847G>T	c.(2845-2847)AAG>AAT	p.K949N	AGL_uc001dsj.1_Missense_Mutation_p.K949N|AGL_uc001dsk.1_Missense_Mutation_p.K949N|AGL_uc001dsl.1_Missense_Mutation_p.K949N|AGL_uc001dsm.1_Missense_Mutation_p.K933N|AGL_uc001dsn.1_Missense_Mutation_p.K932N	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	949	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGACCAAAGAATGACTTGG	0.368			NA											18	54					5.3912e-06	6.38285e-06	0.006122	1	0
RNF115	27246	broad.mit.edu	37	1	145663206	145663206	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:145663206C>G	uc001eoj.2	+	4	471	c.267C>G	c.(265-267)CCC>CCG	p.P89P	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.P56P|RNF115_uc009wiy.2_Silent_p.P8P	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	89					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						ATTTTAGACCCTTTCTAAGTA	0.408			NA											17	53					0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152276956	152276956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:152276956G>T	uc001ezu.1	-	3	10442	c.10406C>A	c.(10405-10407)TCC>TAC	p.S3469Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3469	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCTGGGATGTGGTGTG	0.572			NA							Ichthyosis				105	481					3.0473e-41	4.73679e-41	0.00361	1	0
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155874261C>A	uc001fmh.1	-	5	457	c.270G>T	c.(268-270)ATG>ATT	p.M90I	RIT1_uc010pgr.1_Missense_Mutation_p.M54I	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433			NA											11	44					0.00136819	0.00149585	0.001368	1	0
RIT1	6016	broad.mit.edu	37	1	155880281	155880281	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155880281G>A	uc001fmh.1	-	3	310	c.123C>T	c.(121-123)TTC>TTT	p.F41F	RIT1_uc010pgr.1_Silent_p.F5F	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	41					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GGTGGCTGATGAACTGCATGG	0.368			NA											8	60					0	0	0.00308	0	0
INSRR	3645	broad.mit.edu	37	1	156814999	156814999	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:156814999C>A	uc010pht.1	-	12	2560	c.2306G>T	c.(2305-2307)CGT>CTT	p.R769L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	769	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCTCGCTCACGGGGCACCTT	0.706			NA											4	22					0.00024832	0.000281594	0.009096	1	0
CD5L	922	broad.mit.edu	37	1	157804207	157804207	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:157804207G>C	uc001frk.3	-	4	851	c.708C>G	c.(706-708)GTC>GTG	p.V236V		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	236	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCACATTCGACCCACGTGT	0.458			NA											3	22					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158596722	158596722	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:158596722C>A	uc001fst.1	-	41	5939	c.5740G>T	c.(5740-5742)GCT>TCT	p.A1914S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1914	Spectrin 18.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATTGCCTTAGCCAGAGAAGGG	0.443			NA											35	186					3.90053e-15	5.55309e-15	0.002445	1	0
CADM3	57863	broad.mit.edu	37	1	159169551	159169551	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159169551G>T	uc001ftl.2	+	8	1105	c.963G>T	c.(961-963)CCG>CCT	p.P321P	CADM3_uc001ftk.2_Silent_p.P355P|uc001ftm.1_Intron	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	321	Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					ACCCCAGTCCGGTGCCCTCCT	0.527			NA											11	60					4.93089e-13	6.82854e-13	0.00245	1	0
DARC	2532	broad.mit.edu	37	1	159175986	159175986	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159175986T>C	uc001fto.2	+	2	997	c.757T>C	c.(757-759)TGG>CGG	p.W253R	DARC_uc001ftp.3_Missense_Mutation_p.W255R	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	253	Helical; Name=6; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GTTTATTTTCTGGTGGCCTCA	0.552			NA											31	123					0	0	0.002096	0	0
VANGL2	57216	broad.mit.edu	37	1	160385936	160385936	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:160385936C>A	uc001fwb.1	+	4	455	c.156C>A	c.(154-156)CCC>CCA	p.P52P	VANGL2_uc001fwc.1_Silent_p.P52P	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	52	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGGAGCCCCTGCTGGACA	0.662			NA											9	59					0.000442599	0.000496973	0.006214	1	0
HMCN1	83872	broad.mit.edu	37	1	186023062	186023062	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:186023062G>T	uc001grq.1	+	44	7035	c.6806G>T	c.(6805-6807)TGT>TTT	p.C2269F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2269	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTCTATTCATGTGTGGCGTCG	0.418			NA											8	50					0.000157383	0.000180261	0.00308	1	0
KCNT2	343450	broad.mit.edu	37	1	196459025	196459025	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:196459025C>A	uc001gtd.1	-	3	278	c.218G>T	c.(217-219)AGC>ATC	p.S73I	KCNT2_uc001gte.1_Missense_Mutation_p.S73I|KCNT2_uc001gtf.1_Missense_Mutation_p.S73I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S73I|KCNT2_uc009wyv.1_Missense_Mutation_p.S73I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	73	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TAATAAGCAGCTTAGTAATTT	0.303			NA											19	134					7.45023e-12	1.01939e-11	0.010504	1	0
F13B	2165	broad.mit.edu	37	1	197021821	197021821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021821C>A	uc001gtt.1	-	9	1542	c.1498G>T	c.(1498-1500)GAA>TAA	p.E500*		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	500	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACAGATAATTCAGACAATGGG	0.328			NA											13	66					0.00010058	0.000116662	0.001368	1	0
ASPM	259266	broad.mit.edu	37	1	197113130	197113130	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197113130T>C	uc001gtu.2	-	2	655	c.398A>G	c.(397-399)CAA>CGA	p.Q133R	ASPM_uc001gtv.2_Missense_Mutation_p.Q133R|ASPM_uc001gtw.3_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	133					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TAATATAGCTTGGTGTTTCAG	0.303			NA											12	50					0	0	0.000978	0	0
KIF14	9928	broad.mit.edu	37	1	200574420	200574420	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:200574420G>T	uc010ppk.1	-	8	2176	c.1737C>A	c.(1735-1737)ACC>ACA	p.T579T	KIF14_uc010ppj.1_Silent_p.T88T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	579	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CCTTGGTCTGGGTCATCACCA	0.393			NA											15	67					0.000219431	0.0002507	0.00245	1	0
USH2A	7399	broad.mit.edu	37	1	215972398	215972398	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:215972398C>T	uc001hku.1	-	50	10196	c.9809G>A	c.(9808-9810)AGA>AAA	p.R3270K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3270	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)		GTACGGCATTCTGCCACAGCA	0.478			NA								HNSCC(13;0.011)			10	46					0	0	0.006214	0	0
ESRRG	2104	broad.mit.edu	37	1	216692692	216692692	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216692692C>G	uc001hkw.1	-	6	1100	c.934G>C	c.(934-936)GGT>CGT	p.G312R	ESRRG_uc001hky.1_Missense_Mutation_p.G289R|ESRRG_uc009xdp.1_Missense_Mutation_p.G289R|ESRRG_uc001hkz.1_Missense_Mutation_p.G250R|ESRRG_uc010puc.1_Missense_Mutation_p.G289R|ESRRG_uc001hla.1_Missense_Mutation_p.G289R|ESRRG_uc001hlb.1_Missense_Mutation_p.G289R|ESRRG_uc010pud.1_Missense_Mutation_p.G120R|ESRRG_uc001hlc.1_Missense_Mutation_p.G289R|ESRRG_uc001hld.1_Missense_Mutation_p.G289R|ESRRG_uc001hkx.1_Missense_Mutation_p.G324R|ESRRG_uc009xdo.1_Missense_Mutation_p.G289R|ESRRG_uc001hle.1_Missense_Mutation_p.G289R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	312					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TATACGACACCAAGGATCAAA	0.473			NA											8	43					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228432156	228432156	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:228432156T>C	uc009xez.1	+	11	3409	c.3365T>C	c.(3364-3366)ATG>ACG	p.M1122T	OBSCN_uc001hsn.2_Missense_Mutation_p.M1122T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1122	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AAAGTGGGCATGGAGGTCAAA	0.627			NA											14	97					0	0	0.00245	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518100	233518100	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:233518100C>T	uc001hvt.3	+	10	3015	c.2754C>T	c.(2752-2754)TGC>TGT	p.C918C	KIAA1804_uc001hvu.3_Silent_p.C364C	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	918					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TGCCACTCTGCCCCTCACCTG	0.532			NA											16	81					0	0	0.00499	0	0
LYST	1130	broad.mit.edu	37	1	235972070	235972070	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:235972070G>C	uc001hxj.2	-	5	2223	c.2048C>G	c.(2047-2049)TCT>TGT	p.S683C	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S683C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	683	WD 1.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAATCTTCAGATCCACTGCT	0.393			NA							Chediak-Higashsyndrome				13	72					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237919600	237919600	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:237919600G>A	uc001hyl.1	+	81	11278	c.11158G>A	c.(11158-11160)GAA>AAA	p.E3720K	RYR2_uc010pya.1_Missense_Mutation_p.E135K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3720					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)			AAAAGAAATGGAAAAGCAAAA	0.438			NA											12	33					0	0	0.001368	0	0
RGS7	6000	broad.mit.edu	37	1	241099977	241099977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:241099977C>A	uc001hyv.2	-	5	586	c.256G>T	c.(256-258)GCT>TCT	p.A86S	RGS7_uc010pyh.1_Missense_Mutation_p.A60S|RGS7_uc010pyj.1_Missense_Mutation_p.A2S|RGS7_uc001hyu.2_Missense_Mutation_p.A86S|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.A86S	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	86	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCGTGGGCAGCCATTAATGTT	0.368			NA											30	127					1.06801e-11	1.45696e-11	0.009535	1	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159524	242159524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:242159524C>A	uc001hzk.2	-	4	460	c.385G>T	c.(385-387)GAG>TAG	p.E129*		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	129					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTGCTGACTCCAGGCAGCCA	0.567			NA											6	71					5.9392e-07	7.29628e-07	0.001168	1	0
CNST	163882	broad.mit.edu	37	1	246829096	246829096	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:246829096C>T	uc001ibp.2	+	11	2445	c.2067C>T	c.(2065-2067)TTC>TTT	p.F689F		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	689				F -> L (in Ref. 1; BAC03735).	positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ACTGCACTTTCGGTGACATGG	0.458			NA											15	102					0	0	0.004007	0	0
OR2C3	81472	broad.mit.edu	37	1	247694862	247694862	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:247694862C>A	uc009xgy.2	-	2	1314	c.952G>T	c.(952-954)GCG>TCG	p.A318S	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAATTTGCGCCAGCTTGCCT	0.507			NA											4	45					0.000602214	0.000669616	0.000602	1	0
ADARB2	105	broad.mit.edu	37	10	1230908	1230908	+	Missense_Mutation	SNP	C	C	T	rs146024921		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:1230908C>T	uc009xhq.2	-	9	2310	c.1936G>A	c.(1936-1938)GCG>ACG	p.A646T	ADARB2_uc009xhp.2_Missense_Mutation_p.A30T|ADARB2_uc001igl.3_Missense_Mutation_p.A8T|ADARB2_uc001igm.3_Missense_Mutation_p.A155T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	646	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCAGGTCCGCGCTGCCCACG	0.692			NA											5	35					0	0	0.000602	0	0
CELF2	10659	broad.mit.edu	37	10	11363183	11363183	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:11363183G>C	uc001iki.3	+	11	1181	c.1089G>C	c.(1087-1089)CTG>CTC	p.L363L	CELF2_uc010qbj.1_Silent_p.L369L|CELF2_uc001ikk.2_Silent_p.L388L|CELF2_uc001ikl.3_Silent_p.L376L|CELF2_uc010qbl.1_Silent_p.L339L|CELF2_uc010qbm.1_Silent_p.L135L|CELF2_uc001iko.3_Silent_p.L343L|CELF2_uc001ikp.3_Silent_p.L345L|CELF2_uc010qbn.1_Silent_p.L351L|CELF2_uc010qbo.1_Silent_p.L258L|CELF2_uc010qbp.1_Silent_p.L135L	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	363	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TGGCGGCTCTGAATGGAGGAC	0.507			NA											24	100					0	0	0.00632	0	0
STAM	8027	broad.mit.edu	37	10	17747606	17747606	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:17747606G>A	uc001ipj.1	+	12	1291	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	STAM_uc009xjw.1_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	359					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						AGAACTCTCAGAACTTAATGT	0.323			NA											7	68					0	0	0.00308	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703039	27703039	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:27703039G>T	uc001itu.2	-	1	259	c.141C>A	c.(139-141)CCC>CCA	p.P47P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	47					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGGGTGCCAGGGGTCCCGGGG	0.682			NA											17	128					1.01871e-10	1.36927e-10	0.008871	1	0
FZD8	8325	broad.mit.edu	37	10	35928960	35928960	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:35928960C>T	uc001iyz.1	-	1	1403	c.1398G>A	c.(1396-1398)CCG>CCA	p.P466P		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	466	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						TGCCCGCCACCGGGTCGCCGT	0.667			NA											3	25					0	0	0.009096	0	0
BMS1	9790	broad.mit.edu	37	10	43312827	43312827	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:43312827A>T	uc001jaj.2	+	15	2823	c.2465A>T	c.(2464-2466)AAG>ATG	p.K822M		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	822					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAAAGTGCCAAGAAAAAGCAT	0.318			NA											6	18					0	0	0.001168	0	0
MYST4	23522	broad.mit.edu	37	10	76789116	76789116	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:76789116G>T	uc001jwn.1	+	18	5027	c.4534G>T	c.(4534-4536)GCA>TCA	p.A1512S	MYST4_uc001jwo.1_Missense_Mutation_p.A1220S|MYST4_uc001jwp.1_Missense_Mutation_p.A1329S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1512					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AGGAGAACAGGCACAGAAGCA	0.547			NA	T	CREBBP	AML								28	71					2.44723e-14	3.44118e-14	0.004656	1	0
ZNF503	84858	broad.mit.edu	37	10	77158903	77158903	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:77158903G>A	uc001jxg.2	-	2	1881	c.1545C>T	c.(1543-1545)ATC>ATT	p.I515I	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	515	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCCAGTTGCAGATGTGGGGGA	0.677			NA											8	46					0	0	0.004482	0	0
ENTPD1	953	broad.mit.edu	37	10	97602241	97602241	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:97602241C>T	uc001klh.3	+	4	727	c.403C>T	c.(403-405)CGG>TGG	p.R135W	ENTPD1_uc001kle.1_Missense_Mutation_p.R142W|ENTPD1_uc001kli.3_Missense_Mutation_p.R142W|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.R147W|ENTPD1_uc010qok.1_Missense_Mutation_p.R27W|ENTPD1_uc010qol.1_Missense_Mutation_p.R27W|ENTPD1_uc010qom.1_Missense_Mutation_p.R135W|ENTPD1_uc010qon.1_Intron|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	135	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCAGGCATGCGGTTGCTCAG	0.532			NA											4	94					0	0	0.009096	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99019290	99019290	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:99019290G>A	uc001knb.2	-	5	738	c.709C>T	c.(709-711)CCT>TCT	p.P237S	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.P228S|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.P237S|ARHGAP19_uc009xvk.2_Missense_Mutation_p.P31S	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	237	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CGATTAGGAGGAGGGAGAATG	0.413			NA											19	134					0	0	0.007413	0	0
PPRC1	23082	broad.mit.edu	37	10	103898375	103898375	+	Splice_Site	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:103898375G>C	uc001kum.2	+	3	382	c.343_splice	c.e3-1	p.S115_splice	PPRC1_uc001kun.2_Intron|PPRC1_uc010qqj.1_Splice_Site_p.S115_splice|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGGAGCAGAGCAGGTTAT	0.478			NA											9	77					0	0	0.006214	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605137	116605137	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:116605137A>G	uc001lcb.2	+	8	1360	c.1025A>G	c.(1024-1026)TAT>TGT	p.Y342C	FAM160B1_uc001lcc.2_Missense_Mutation_p.Y342C	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	342										lung(1)	1						TTGGACTCATATAGTCATAAA	0.378			NA											13	71					0	0	0.00499	0	0
AP2A2	161	broad.mit.edu	37	11	981252	981252	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:981252G>C	uc001lss.2	+	6	839	c.658G>C	c.(658-660)GAA>CAA	p.E220Q	AP2A2_uc001lst.1_Missense_Mutation_p.E220Q|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_Missense_Mutation_p.E93Q	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	220					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGAACCCAGAAGAGTTTAA	0.468			NA											3	25					0	0	0.009096	0	0
MUC2	4583	broad.mit.edu	37	11	1085772	1085772	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1085772G>C	uc001lsx.1	+	21	2720	c.2693G>C	c.(2692-2694)GGC>GCC	p.G898A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	898	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTCACTGGGCTCATTCAGC	0.642			NA											4	69					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1272929	1272929	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1272929C>G	uc009ycr.1	+	52	15911	c.15785C>G	c.(15784-15786)TCT>TGT	p.S5262C	MUC5B_uc001ltb.2_Missense_Mutation_p.S4943C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4940					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCACTTCTCTACTCCCTGC	0.582			NA											10	41					0	0	0.000978	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182027	2182027	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:2182027C>T	uc001lvm.2	-	2	234	c.175G>A	c.(175-177)GAG>AAG	p.E59K	INS-IGF2_uc001lvi.2_RNA|INS_uc001lvn.1_Missense_Mutation_p.E59K|INS_uc001lvo.1_Missense_Mutation_p.E59K|INS_uc009ydg.1_Missense_Mutation_p.E59K	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	59					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		TGCAGGTCCTCTGCCTCCCGG	0.662			NA											9	58					0	0	0.006214	0	0
OR52B4	143496	broad.mit.edu	37	11	4388697	4388697	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4388697G>C	uc010qye.1	-	1	829	c.829C>G	c.(829-831)CCG>GCG	p.P277A		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAGCCAACGGGATGTGGATA	0.463			NA											9	105					0	0	0.008291	0	0
OR52R1	119695	broad.mit.edu	37	11	4825626	4825626	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4825626G>T	uc010qym.1	-	1	222	c.222C>A	c.(220-222)GAC>GAA	p.D74E		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTAATATGGTCTCTGCTGG	0.453			NA											12	72					4.3838e-07	5.42926e-07	0.001855	1	0
OR51L1	119682	broad.mit.edu	37	11	5020955	5020955	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5020955G>C	uc010qyu.1	+	1	743	c.743G>C	c.(742-744)TGT>TCT	p.C248S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCATATCTGTGTGGTGCTT	0.438			NA											11	44					0	0	0.008291	0	0
OR51I1	390063	broad.mit.edu	37	11	5462512	5462512	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5462512G>C	uc010qze.1	-	1	233	c.233C>G	c.(232-234)TCT>TGT	p.S78C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGTGTAGAAAAGGACAC	0.468			NA											3	100					0	0	0.004672	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159487	18159487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:18159487G>A	uc001mnu.2	+	3	1099	c.738G>A	c.(736-738)TGG>TGA	p.W246*		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						ACCTGGATTGGAAAGTCTTAT	0.512			NA											12	89					0	0	0.001368	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399054	22399054	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:22399054C>A	uc001mqk.2	+	12	1930	c.1517C>A	c.(1516-1518)GCA>GAA	p.A506E		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	506	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CAACCCTGGGCAGACCCGGAG	0.408			NA											9	49					0.000274275	0.000310257	0.004482	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34101277	34101277	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34101277C>T	uc001mvh.1	+	7	980	c.791C>T	c.(790-792)TCA>TTA	p.S264L	CAPRIN1_uc001mvg.2_Missense_Mutation_p.S264L|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S264L|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S183L	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	264					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GAGGCAGCCTCAGCACCTGCA	0.428			NA											12	45					0	0	0.000978	0	0
NAT10	55226	broad.mit.edu	37	11	34167643	34167643	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34167643G>A	uc001mvk.2	+	29	3226	c.2982G>A	c.(2980-2982)AGG>AGA	p.R994R	NAT10_uc010ren.1_Silent_p.R922R	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	994	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACAAGAAAAGGAAGTTAGAGG	0.343			NA											8	26					0	0	0.004482	0	0
LRP4	4038	broad.mit.edu	37	11	46917795	46917795	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:46917795A>T	uc001ndn.3	-	9	1160	c.1014T>A	c.(1012-1014)GGT>GGA	p.G338G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	338	Extracellular (Potential).|LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CGCTGTTGTCACCACAGTCGT	0.587			NA											15	76					0	0	0.00245	0	0
OR4S2	219431	broad.mit.edu	37	11	55418616	55418616	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55418616G>C	uc001nhs.1	+	1	237	c.237G>C	c.(235-237)ATG>ATC	p.M79I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				CTCCCAAGATGATTGTTGACC	0.428			NA											50	227					0	0	0.00361	0	0
OR4C6	219432	broad.mit.edu	37	11	55433216	55433216	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55433216A>G	uc001nht.3	+	3	839	c.574A>G	c.(574-576)ATC>GTC	p.I192V	OR4C6_uc010rik.1_Missense_Mutation_p.I192V	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GGACACCCACATCCTGGGCCT	0.443			NA											24	105					0	0	0.00333	0	0
OR5L2	26338	broad.mit.edu	37	11	55595424	55595424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55595424C>A	uc001nhy.1	+	1	730	c.730C>A	c.(730-732)CAC>AAC	p.H244N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CTGTGCCTCCCACCTCACAGC	0.498			NA								HNSCC(27;0.073)			16	150					2.31682e-05	2.71484e-05	0.003163	1	0
OR8J1	219477	broad.mit.edu	37	11	56127760	56127760	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:56127760T>C	uc010rjh.1	+	1	38	c.38T>C	c.(37-39)ATT>ACT	p.I13T		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACTGAGTTTATTCTTACAGGT	0.448			NA											22	121					0	0	0.005443	0	0
MS4A5	64232	broad.mit.edu	37	11	60215231	60215231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60215231G>T	uc001npo.2	+	5	688	c.602G>T	c.(601-603)TGA>TTA	p.*201L		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	201						integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2						CAATGTTGTTGACTAGCACTG	0.363			NA											19	99					3.51602e-12	4.82528e-12	0.008871	1	0
MS4A8B	83661	broad.mit.edu	37	11	60482498	60482498	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60482498C>T	uc001npv.2	+	6	742	c.539C>T	c.(538-540)CCT>CTT	p.P180L		NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	180	Extracellular (Potential).					integral to membrane	receptor activity				0						cTACAGAACCCTGGAATGGCG	0.303			NA											13	74					0	0	0.001855	0	0
AHNAK	79026	broad.mit.edu	37	11	62299707	62299707	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:62299707C>A	uc001ntl.2	-	5	2482	c.2182G>T	c.(2182-2184)GGC>TGC	p.G728C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	728					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ACTTTTGGGCCTTTGAGTTCT	0.473			NA											74	388					5.04879e-28	7.79492e-28	0.00361	1	0
PDE2A	5138	broad.mit.edu	37	11	72289312	72289312	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:72289312G>T	uc010rrc.1	-	30	2823	c.2580C>A	c.(2578-2580)ATC>ATA	p.I860I	PDE2A_uc001oso.2_Silent_p.I839I|PDE2A_uc010rra.1_Silent_p.I853I|PDE2A_uc001osn.2_Silent_p.I604I|PDE2A_uc010rrb.1_Silent_p.I851I|PDE2A_uc010rrd.1_Silent_p.I745I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	860	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGAAGCTGATTTGCAGCT	0.572			NA											26	119					2.24059e-21	3.35722e-21	0.00632	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74876893	74876893	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74876893G>T	uc001owb.2	+	4	734	c.347G>T	c.(346-348)CGA>CTA	p.R116L	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_5'UTR|SLCO2B1_uc001owc.2_5'UTR|SLCO2B1_uc001owd.2_Missense_Mutation_p.R94L	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	116	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	CACCGACCCCGAATGATTGGC	0.567			NA											24	141					2.12542e-12	2.92565e-12	0.00632	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74880441	74880441	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74880441C>T	uc001owb.2	+	5	1059	c.672C>T	c.(670-672)CCC>CCT	p.P224P	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Silent_p.P80P|SLCO2B1_uc010rrs.1_Silent_p.P108P|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Silent_p.P202P	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	224	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GCAACTCGCCCCTCTACCTCG	0.607			NA											8	47					0	0	0.004482	0	0
TYR	7299	broad.mit.edu	37	11	89018116	89018116	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:89018116G>A	uc001pcs.2	+	4	1442	c.1360G>A	c.(1360-1362)GAT>AAT	p.D454N		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	454	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)	CTATCTACAAGATTCAGGTAA	0.338			NA							Oculocutaneous_Albinism				14	70					0	0	0.003163	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819274	89819275	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:89819274_89819275GG>TT	uc010rub.1	+	1	157_158	c.157_158GG>TT	c.(157-159)GGT>TTT	p.G53F		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	upstream binding transcription factor, RNA	53					multicellular organismal development	cytoplasm|nucleus	DNA binding				0						AAACTTTTCTGGTGAAATGTGC	0.391			NA											14	97					0	0	0.004672	0	0
FAT3	120114	broad.mit.edu	37	11	92616312	92616312	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616312C>A	uc001pdj.3	+	23	12707	c.12690C>A	c.(12688-12690)GTC>GTA	p.V4230V	FAT3_uc001pdi.3_Silent_p.V670V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4230	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCGCAGGTCCCCGTGCGCC	0.657			NA								TCGA Ovarian(4;0.039)			27	148					1.30897e-18	1.93592e-18	0.009535	1	0
FAT3	120114	broad.mit.edu	37	11	92616507	92616507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616507C>A	uc001pdj.3	+	23	12902	c.12885C>A	c.(12883-12885)TGC>TGA	p.C4295*	FAT3_uc001pdi.3_Nonsense_Mutation_p.C735*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4295	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCACCCTGCCGCTCCGACT	0.637			NA								TCGA Ovarian(4;0.039)			13	26					3.27435e-08	4.23903e-08	0.00245	1	0
ROBO4	54538	broad.mit.edu	37	11	124761263	124761263	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:124761263C>T	uc001qbg.2	-	12	2020	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	ROBO4_uc010sas.1_Missense_Mutation_p.R482H|ROBO4_uc001qbh.2_Missense_Mutation_p.R517H|ROBO4_uc001qbi.2_Missense_Mutation_p.R185H|ROBO4_uc010sat.1_Missense_Mutation_p.R185H	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	627					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAGTCCCCTGCGGCTGCAGAG	0.637			NA											5	41					0	0	0.001168	0	0
WNK1	65125	broad.mit.edu	37	12	1005335	1005335	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:1005335G>A	uc001qio.3	+	24	6189	c.5682G>A	c.(5680-5682)GTG>GTA	p.V1894V	WNK1_uc001qip.3_Silent_p.V1646V|WNK1_uc001qir.3_Silent_p.V1067V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1894					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)			AGTCCTCAGTGCTATCAAGTA	0.468	Colon(19;451 567 6672 12618 28860)		NA											36	58					0	0	0.004878	0	0
ITFG2	55846	broad.mit.edu	37	12	2927444	2927444	+	Splice_Site	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:2927444G>A	uc001qlb.1	+	4	470	c.406_splice	c.e4+1	p.D136_splice	ITFG2_uc001qla.1_Missense_Mutation_p.G136D|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2												0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCGACATCGGTGGGCATGCC	0.542			NA											3	26					0	0	0.004672	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906652	13906652	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:13906652G>A	uc001rbt.2	-	3	788	c.609C>T	c.(607-609)CTC>CTT	p.L203L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	203	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTCCAGTAGGAGGACCTCCT	0.478			NA											19	124					0	0	0.006122	0	0
SYT10	341359	broad.mit.edu	37	12	33592449	33592449	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:33592449G>A	uc001rll.1	-	1	306	c.9C>T	c.(7-9)TTC>TTT	p.F3F	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	3	Vesicular (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)					CCTCCTTGTGGAAACTCATCG	0.542			NA											21	167					0	0	0.008871	0	0
COL2A1	1280	broad.mit.edu	37	12	48370306	48370306	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:48370306A>T	uc001rqu.2	-	49	3661	c.3480T>A	c.(3478-3480)TCT>TCA	p.S1160S	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.S1091S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1160	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCTAGGGCCAGAAGGACCAG	0.547			NA											5	41					0	0	0.000602	0	0
GPD1	2819	broad.mit.edu	37	12	50498490	50498490	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:50498490G>A	uc001rvz.2	+	2	208	c.175G>A	c.(175-177)GAG>AAG	p.E59K	GPD1_uc010smp.1_Missense_Mutation_p.E59K|GPD1_uc001rwa.2_Missense_Mutation_p.E59K	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	59					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	CACGCAGCATGAGAATGTCAA	0.547	NSCLC(141;1402 1905 9497 13391 44868)		NA											15	83					0	0	0.006122	0	0
KRT78	196374	broad.mit.edu	37	12	53242431	53242432	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:53242431_53242432GG>TT	uc001sbc.1	-	1	347_348	c.283_284CC>AA	c.(283-285)CCA>AAA	p.P95K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	95	Head.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						AATCTTCAGTGGGGTCAGCAGA	0.589			NA											8	40					0	0	0.004672	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115361	54115361	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:54115361C>G	uc001sef.2	-	6	792	c.648G>C	c.(646-648)AGG>AGC	p.R216S	CALCOCO1_uc010som.1_Missense_Mutation_p.R183S|CALCOCO1_uc010son.1_Missense_Mutation_p.R93S|CALCOCO1_uc001seh.2_Missense_Mutation_p.R216S|CALCOCO1_uc009znd.2_Missense_Mutation_p.R216S|CALCOCO1_uc001seg.2_Missense_Mutation_p.R93S|CALCOCO1_uc010soo.1_Missense_Mutation_p.R209S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	216					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						TCAGGATGTCCCTCTCTTCTG	0.537			NA											69	402					0	0	0.00361	0	0
SMARCC2	6601	broad.mit.edu	37	12	56567617	56567617	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:56567617C>T	uc001skb.2	-	17	1619	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	SMARCC2_uc001skd.2_Missense_Mutation_p.E505K|SMARCC2_uc001ska.2_Missense_Mutation_p.E505K|SMARCC2_uc001skc.2_Missense_Mutation_p.E505K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E394K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	505	SWIRM.				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)			CCCCACTGTTCTAGGAAGGCA	0.567			NA											36	171					0	0	0.00623	0	0
CNOT2	4848	broad.mit.edu	37	12	70732251	70732251	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:70732251C>T	uc001svv.2	+	10	1508	c.929C>T	c.(928-930)TCA>TTA	p.S310L	CNOT2_uc009zro.2_Missense_Mutation_p.S310L|CNOT2_uc009zrp.2_Missense_Mutation_p.S290L|CNOT2_uc009zrq.2_Missense_Mutation_p.S310L|CNOT2_uc001svw.1_Missense_Mutation_p.S50L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	310					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AAGACAACTTCAAGTACAGAT	0.333			NA											17	117					0	0	0.007413	0	0
PTPRR	5801	broad.mit.edu	37	12	71286464	71286464	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:71286464C>T	uc001swi.1	-	2	768	c.352G>A	c.(352-354)GTG>ATG	p.V118M		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	118	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTACCACCACAATTACATTT	0.408			NA											20	168					0	0	0.001882	0	0
NAV3	89795	broad.mit.edu	37	12	78513530	78513530	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:78513530G>C	uc001syp.2	+	15	3727	c.3554G>C	c.(3553-3555)GGG>GCG	p.G1185A	NAV3_uc001syo.2_Missense_Mutation_p.G1185A|NAV3_uc010sub.1_Missense_Mutation_p.G685A|NAV3_uc009zsf.2_Missense_Mutation_p.G193A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1185	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACTAAAATTGGGTCAGGGCGC	0.507			NA								HNSCC(70;0.22)			15	55					0	0	0.00245	0	0
MYF6	4618	broad.mit.edu	37	12	81102736	81102736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:81102736G>C	uc001szf.1	+	3	779	c.726G>C	c.(724-726)AAG>AAC	p.K242N		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	242					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						TGGTGGAGAAGTAACTGAGCC	0.512			NA											10	48					0	0	0.006214	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453138	100453138	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:100453138T>A	uc001tgq.2	-	14	2146	c.1917A>T	c.(1915-1917)ACA>ACT	p.T639T	UHRF1BP1L_uc001tgp.2_Silent_p.T289T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	639										ovary(2)	2						AGCTGGTATATGTTTTACTAA	0.333			NA											10	70					0	0	0.008291	0	0
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:102122937C>T	uc001tiq.2	-	8	739	c.607G>A	c.(607-609)GAA>AAA	p.E203K	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.E203K|SYCP3_uc001tis.2_Missense_Mutation_p.E203K	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Potential.|Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						TTTTTAAATTCATTTTGTGCA	0.279			NA											10	62					0	0	0.001855	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587749	120587749	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:120587749C>T	uc001txo.2	-	35	4421	c.4408G>A	c.(4408-4410)GAT>AAT	p.D1470N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1470	HEAT 7.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTTCCATCCCCAAAGCAC	0.433			NA											12	60					0	0	0.000978	0	0
SETD8	387893	broad.mit.edu	37	12	123892056	123892056	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:123892056G>C	uc001uew.2	+	8	907	c.865G>C	c.(865-867)GAG>CAG	p.E289Q	SETD8_uc001uex.2_Missense_Mutation_p.E224Q	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	330	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TGCAACTAGAGAGACAAATCG	0.507			NA											8	55					0	0	0.00308	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558563	129558563	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:129558563C>T	uc009zyl.1	-	9	3485	c.3157G>A	c.(3157-3159)GTC>ATC	p.V1053I	TMEM132D_uc001uia.2_Missense_Mutation_p.V591I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1053	Cytoplasmic (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)		TCTGAGGAGACGGCGGTGAAG	0.512			NA											25	129					0	0	0.003954	0	0
SFRS8	6433	broad.mit.edu	37	12	132262626	132262626	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132262626C>T	uc001uja.1	+	14	2299	c.2159C>T	c.(2158-2160)CCC>CTC	p.P720L	SFRS8_uc010tbn.1_Missense_Mutation_p.P720L|SFRS8_uc001ujb.1_Missense_Mutation_p.P513L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	720					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGCACTACGCCCTGCCCTCTA	0.448			NA											10	64					0	0	0.001368	0	0
GALNT9	50614	broad.mit.edu	37	12	132688113	132688113	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132688113G>T	uc001ukc.3	-	7	1316	c.1200C>A	c.(1198-1200)GCC>GCA	p.A400A	GALNT9_uc009zyr.2_Silent_p.A174A|GALNT9_uc001ukb.2_Silent_p.A257A|GALNT9_uc001uka.2_Silent_p.A34A	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	400	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ACACCTCGGCGGCGCGCAGGG	0.647	Colon(186;2147 2752 13553 41466)		NA											7	47					8.12818e-05	9.47597e-05	0.001984	1	0
SACS	26278	broad.mit.edu	37	13	23904722	23904722	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:23904722C>T	uc001uon.2	-	10	13882	c.13293G>A	c.(13291-13293)AGG>AGA	p.R4431R	SACS_uc001uoo.2_Silent_p.R4284R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4431					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACAAAGAACCTTTGAGAGT	0.473			NA											20	128					0	0	0.007413	0	0
SLC7A1	6541	broad.mit.edu	37	13	30106979	30106979	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:30106979T>C	uc001uso.2	-	4	898	c.511A>G	c.(511-513)ATA>GTA	p.I171V		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	171	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGAGAATTATGATCACTGCG	0.507			NA											20	124					0	0	0.010504	0	0
PDS5B	23047	broad.mit.edu	37	13	33268412	33268412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:33268412G>A	uc010abf.2	+	14	1680	c.1522G>A	c.(1522-1524)GAT>AAT	p.D508N	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	508					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCAAGTAAAGGATTTGCTTGA	0.284			NA											29	141					0	0	0.003755	0	0
FREM2	341640	broad.mit.edu	37	13	39262739	39262739	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:39262739G>C	uc001uwv.2	+	1	1567	c.1258G>C	c.(1258-1260)GCA>CCA	p.A420P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	420	Extracellular (Potential).|CSPG 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTAGAAGGAGCAGCTTCAGA	0.532			NA											16	79					0	0	0.004007	0	0
KBTBD6	89890	broad.mit.edu	37	13	41704889	41704889	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:41704889C>T	uc001uxu.1	-	1	2048	c.1759G>A	c.(1759-1761)GAA>AAA	p.E587K	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E521K|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	587	Kelch 5.						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)		ATATCATATTCATACACAGTC	0.423			NA											20	147					0	0	0.010504	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149890	45149890	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:45149890C>G	uc001uzn.3	-	1	812	c.321G>C	c.(319-321)AAG>AAC	p.K107N	TSC22D1_uc001uzo.1_Missense_Mutation_p.K107N	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	107					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCACTTTTCTTTTTCATTT	0.527			NA											19	97					0	0	0.010504	0	0
NEK5	341676	broad.mit.edu	37	13	52639651	52639651	+	Silent	SNP	G	G	A	rs56086016		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:52639651G>A	uc001vge.2	-	22	2159	c.2019C>T	c.(2017-2019)GAC>GAT	p.D673D		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	673							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGGTGATGTCGGCCACTG	0.607			NA											18	85					0	0	0.007413	0	0
OLFM4	10562	broad.mit.edu	37	13	53624888	53624888	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:53624888C>A	uc001vhl.2	+	5	1515	c.1515C>A	c.(1513-1515)GTC>GTA	p.V505V	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	505	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATCTTTCTGTCTTGCAGAAGC	0.373			NA											12	77					1.08611e-07	1.38259e-07	0.000978	1	0
GAS6	2621	broad.mit.edu	37	13	114535424	114535424	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:114535424C>T	uc001vud.2	-	10	1144	c.991G>A	c.(991-993)GAG>AAG	p.E331K	GAS6_uc001vug.2_Missense_Mutation_p.E32K|GAS6_uc001vuf.2_Missense_Mutation_p.E58K	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	374	Laminin G-like 1.	Calcium; via carbonyl oxygen.			cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGATGCCCTCGGGGTCAAAG	0.652			NA											12	44					0	0	0.001368	0	0
MYH6	4624	broad.mit.edu	37	14	23853733	23853733	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:23853733A>T	uc001wjv.2	-	36	5550	c.5483T>A	c.(5482-5484)CTG>CAG	p.L1828Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1828	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCGGCCTCCAGCTCACCCTC	0.667			NA											45	103					0	0	0.002852	0	0
GMPR2	51292	broad.mit.edu	37	14	24707945	24707945	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:24707945C>T	uc001wnr.2	+	10	1390	c.1008C>T	c.(1006-1008)GTC>GTT	p.V336V	GMPR2_uc001wnv.2_Silent_p.V173V|GMPR2_uc001wns.2_Silent_p.V336V|GMPR2_uc001wnt.2_Silent_p.V303V|GMPR2_uc001wnu.2_Silent_p.V361V|GMPR2_uc001wnw.2_Silent_p.V336V|GMPR2_uc010all.2_Silent_p.V308V|GMPR2_uc001wnx.2_Silent_p.V354V|GMPR2_uc010tod.1_Silent_p.V303V|GMPR2_uc010alk.1_Silent_p.V397V|GMPR2_uc010toe.1_Silent_p.V397V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	336					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		TCATCCGAGTCACCCAGCAGG	0.542			NA											9	56					0	0	0.004482	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792927	31792927	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:31792927G>A	uc001wrf.3	-	18	2829	c.2752C>T	c.(2752-2754)CGT>TGT	p.R918C	HEATR5A_uc010ami.2_Missense_Mutation_p.R816C|HEATR5A_uc001wrg.1_Missense_Mutation_p.R800C	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTCATCACGTCTGGTGGTC	0.408			NA											24	84					0	0	0.004656	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36143822	36143822	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:36143822C>G	uc001wti.2	-	22	3591	c.3200G>C	c.(3199-3201)AGA>ACA	p.R1067T	RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1067T|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1080T|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1114T	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1067					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GCCTAGCATTCTTCGCCACAT	0.398			NA											8	21					0	0	0.004482	0	0
GNG2	54331	broad.mit.edu	37	14	52433384	52433384	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:52433384G>T	uc001wzi.2	+	4	724	c.195G>T	c.(193-195)AAG>AAT	p.K65N	GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.K65N	NM_053064	NP_444292	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein),	65					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity				0	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	GGGAGAAGAAGTTTTTCTGTG	0.512			NA											35	122					1.36161e-19	2.0269e-19	0.004289	1	0
C14orf37	145407	broad.mit.edu	37	14	58605023	58605024	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:58605023_58605024CC>AA	uc001xdc.2	-	2	1164_1165	c.1053_1054GG>TT	c.(1051-1056)GAGGGT>GATTGT	p.351_352EG>DC	C14orf37_uc010tro.1_Missense_Mutation_p.389_390EG>DC|C14orf37_uc001xdd.2_Missense_Mutation_p.351_352EG>DC|C14orf37_uc001xde.2_Missense_Mutation_p.351_352EG>DC	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	351_352	Extracellular (Potential).					integral to membrane	binding				0						CCTTCCATACCCTCATGGCTTA	0.554			NA											29	133					0	0	0.004672	0	0
RTN1	6252	broad.mit.edu	37	14	60193817	60193817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:60193817C>T	uc001xen.1	-	3	1794	c.1585G>A	c.(1585-1587)GAG>AAG	p.E529K	RTN1_uc001xem.1_Missense_Mutation_p.E109K	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	529					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGCTGGGGCTCAGTTGAGGGG	0.692			NA											6	13					0	0	0.00308	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22866791	22866791	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:22866791C>A	uc001yur.3	+	17	2533	c.2403C>A	c.(2401-2403)CTC>CTA	p.L801L	TUBGCP5_uc001yuq.2_Silent_p.L801L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	801					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCTGACCCTCAGCTACAAGG	0.333			NA											7	46					0.000157383	0.000180261	0.00308	1	0
ATP10A	57194	broad.mit.edu	37	15	25963457	25963457	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:25963457C>T	uc010ayu.2	-	8	1559	c.1453G>A	c.(1453-1455)GGC>AGC	p.G485S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	485	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGTGGCTGCCGATGCTGCCG	0.701			NA											4	19					0	0	0.009096	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819497	31819497	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31819497G>C	uc001zfq.2	-	5	760	c.667C>G	c.(667-669)CAC>GAC	p.H223D	OTUD7A_uc001zfr.2_Missense_Mutation_p.H223D	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	223	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCCGGTCGTGAAACCCCCAC	0.572			NA											24	93					0	0	0.003954	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31851205C>T	uc001zfq.2	-	3	610	c.517G>A	c.(517-519)GAG>AAG	p.E173K	OTUD7A_uc001zfr.2_Missense_Mutation_p.E173K|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.E173K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	173	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572			NA											6	26					0	0	0.001984	0	0
SH3GL3	6457	broad.mit.edu	37	15	84255823	84255823	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:84255823G>A	uc002bjw.2	+	7	908	c.713G>A	c.(712-714)AGC>AAC	p.S238N	SH3GL3_uc010uot.1_Missense_Mutation_p.S238N|SH3GL3_uc002bjx.2_Missense_Mutation_p.S169N|SH3GL3_uc002bju.2_Missense_Mutation_p.S246N|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	238	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GAGCTGCAGAGCAAGCTACAG	0.498			NA											11	17					0	0	0.008291	0	0
NTRK3	4916	broad.mit.edu	37	15	88483966	88483966	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:88483966C>A	uc002bme.1	-	14	1766	c.1604G>T	c.(1603-1605)AGG>ATG	p.R535M	NTRK3_uc002bmh.2_Missense_Mutation_p.R527M|NTRK3_uc002bmf.1_Missense_Mutation_p.R535M|NTRK3_uc010upl.1_Missense_Mutation_p.R437M|NTRK3_uc010bnh.1_Missense_Mutation_p.R527M	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	535	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTCTCTCCTCTTAATGTG	0.532			NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			38	158					1.47244e-24	2.23557e-24	0.00623	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92706072	92706072	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:92706072T>C	uc002bqx.2	+	10	2041	c.1840T>C	c.(1840-1842)TGC>CGC	p.C614R	SLCO3A1_uc002bqy.2_Missense_Mutation_p.C614R|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C556R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	614	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCAAGGCGCCTGCGTCCTCTA	0.582			NA											3	80					0	0	0.004672	0	0
NR2F2	7026	broad.mit.edu	37	15	96877535	96877535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:96877535G>T	uc010uri.1	+	2	1897	c.673G>T	c.(673-675)GAG>TAG	p.E225*	NR2F2_uc002btp.2_Nonsense_Mutation_p.E92*|NR2F2_uc010urj.1_Nonsense_Mutation_p.E72*|NR2F2_uc010urk.1_Nonsense_Mutation_p.E72*	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	225	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAGCGCCGTCGAGTGGGCCCG	0.612			NA											68	98					6.26901e-30	9.71165e-30	0.00361	1	0
SRRM2	23524	broad.mit.edu	37	16	2815417	2815417	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815417C>T	uc002crk.2	+	11	5437	c.4888C>T	c.(4888-4890)CGG>TGG	p.R1630W	SRRM2_uc002crj.1_Missense_Mutation_p.R1534W|SRRM2_uc002crl.1_Missense_Mutation_p.R1630W|SRRM2_uc010bsu.1_Missense_Mutation_p.R1534W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1630	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCCAGCCCCTCGGGCCCTTCC	0.562			NA											22	61					0	0	0.001882	0	0
A2BP1	54715	broad.mit.edu	37	16	7568296	7568296	+	Missense_Mutation	SNP	C	C	A	rs137880529	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7568296C>A	uc002cys.2	+	5	1163	c.175C>A	c.(175-177)CCC>ACC	p.P59T	A2BP1_uc010buf.1_Missense_Mutation_p.P59T|A2BP1_uc002cyr.1_Missense_Mutation_p.P59T|A2BP1_uc002cyt.2_Missense_Mutation_p.P59T|A2BP1_uc010uxz.1_Missense_Mutation_p.P102T|A2BP1_uc010uya.1_Missense_Mutation_p.P95T|A2BP1_uc002cyv.1_Missense_Mutation_p.P59T|A2BP1_uc010uyb.1_Missense_Mutation_p.P59T|A2BP1_uc002cyw.2_Missense_Mutation_p.P79T|A2BP1_uc002cyy.2_Missense_Mutation_p.P79T|A2BP1_uc002cyx.2_Missense_Mutation_p.P79T|A2BP1_uc010uyc.1_Missense_Mutation_p.P79T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GACCACGGTTCCCGAGCACAC	0.662			NA											38	144					2.52637e-11	3.42597e-11	0.005524	1	0
A2BP1	54715	broad.mit.edu	37	16	7629920	7629920	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7629920G>T	uc002cys.2	+	6	1400	c.412G>T	c.(412-414)GGT>TGT	p.G138C	A2BP1_uc010buf.1_Missense_Mutation_p.G138C|A2BP1_uc002cyr.1_Missense_Mutation_p.G137C|A2BP1_uc002cyt.2_Missense_Mutation_p.G138C|A2BP1_uc010uxz.1_Missense_Mutation_p.G181C|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.G138C|A2BP1_uc010uyb.1_Missense_Mutation_p.G138C|A2BP1_uc002cyw.2_Missense_Mutation_p.G158C|A2BP1_uc002cyy.2_Missense_Mutation_p.G158C|A2BP1_uc002cyx.2_Missense_Mutation_p.G158C|A2BP1_uc010uyc.1_Missense_Mutation_p.G158C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	138	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		ACAAATGTTTGGTGTAAGTAT	0.493			NA											12	36					4.3838e-07	5.42926e-07	0.001855	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858390	9858390	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:9858390G>T	uc002czo.3	-	13	3559	c.3011C>A	c.(3010-3012)TCC>TAC	p.S1004Y	GRIN2A_uc010uym.1_Missense_Mutation_p.S1004Y|GRIN2A_uc010uyn.1_Missense_Mutation_p.S847Y|GRIN2A_uc002czr.3_Missense_Mutation_p.S1004Y	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1004	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCGCTTTGGATTCTGTGCT	0.507			NA											21	84					2.89027e-11	3.90785e-11	0.002299	1	0
MKL2	57496	broad.mit.edu	37	16	14340374	14340374	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14340374G>T	uc010uza.1	+	12	1412	c.1257G>T	c.(1255-1257)GTG>GTT	p.V419V	MKL2_uc002dcg.2_Silent_p.V419V|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	408	SAP.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GTCTGCCAGTGTCAGGCACCA	0.498			NA											9	51					7.48243e-07	9.16748e-07	0.006214	1	0
NOMO1	23420	broad.mit.edu	37	16	14951444	14951444	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14951444C>G	uc002dcv.2	+	11	1218	c.1152C>G	c.(1150-1152)CTC>CTG	p.L384L		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	384	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						AAGAGCACCTCTACTTTGAAA	0.448			NA											18	113					0	0	0.004656	0	0
ACSM1	116285	broad.mit.edu	37	16	20702413	20702413	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:20702413G>C	uc002dhm.1	-	1	166	c.98C>G	c.(97-99)TCA>TGA	p.S33*	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Nonsense_Mutation_p.S33*	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	33					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						TCCAAATTCTGATAAAGACCG	0.498			NA											5	223					0	0	0.000602	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255245	25255245	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:25255245C>A	uc002dod.3	-	6	2249	c.1842G>T	c.(1840-1842)CAG>CAT	p.Q614H	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.Q410H	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	614					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		CTGTAGGTTCCTGGGGTTCAA	0.537			NA											31	163					1.22384e-17	1.79261e-17	0.002836	1	0
XPO6	23214	broad.mit.edu	37	16	28167672	28167672	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28167672T>C	uc002dpa.1	-	7	1321	c.820A>G	c.(820-822)ATC>GTC	p.I274V	XPO6_uc002dpb.1_Missense_Mutation_p.I260V|XPO6_uc010vcp.1_Missense_Mutation_p.I274V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	274					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						AAGTGGAAGATGGTGGTAAGG	0.567			NA											17	68					0	0	0.006122	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620117	28620117	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28620117G>A	uc002dqi.2	-	1	533	c.60C>T	c.(58-60)CTC>CTT	p.L20L	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.L20L|SULT1A1_uc002dqk.2_Silent_p.L20L|SULT1A1_uc002dql.2_Silent_p.L20L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Silent_p.L111L|SULT1A1_uc002dqo.2_Silent_p.L20L|SULT1A1_uc002dqp.2_Silent_p.L20L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	20					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						AGTACTTGATGAGCGGGACCC	0.637			NA											8	93					0	0	0.000978	0	0
SPNS1	83985	broad.mit.edu	37	16	28995569	28995569	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28995569G>T	uc010vdi.1	+	13	1676	c.1536G>T	c.(1534-1536)GTG>GTT	p.V512V	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.V439V|SPNS1_uc002dsa.2_Silent_p.V512V|SPNS1_uc002drz.2_Silent_p.V460V|SPNS1_uc010byp.2_Silent_p.V438V|SPNS1_uc010byq.1_Missense_Mutation_p.C387F|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	512					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GGATTGTGGTGCCCCAGCGGG	0.672			NA											4	47					2.7689e-08	3.59485e-08	0.001984	1	0
ZNF646	9726	broad.mit.edu	37	16	31088711	31088711	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:31088711G>A	uc002eap.2	+	2	1355	c.1066G>A	c.(1066-1068)GAG>AAG	p.E356K		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGGCTCTGCGGAGCTCAGCAC	0.632			NA											3	20					0	0	0.004672	0	0
ABCC11	85320	broad.mit.edu	37	16	48256677	48256677	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:48256677C>T	uc002eff.1	-	5	959	c.609G>A	c.(607-609)GTG>GTA	p.V203V	ABCC11_uc002efg.1_Silent_p.V203V|ABCC11_uc002efh.1_Silent_p.V203V|ABCC11_uc010vgl.1_Silent_p.V203V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	203	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGAGTCCCACTCCATGGA	0.458			NA							Cerumen_Type				10	53					0	0	0.006214	0	0
NUDT21	11051	broad.mit.edu	37	16	56485055	56485055	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:56485055G>A	uc002eja.2	-	1	207	c.60C>T	c.(58-60)TTC>TTT	p.F20F	OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	20	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0						ACTTGTTGCCGAACTGAGTGA	0.642			NA											17	115					0	0	0.010504	0	0
CDH8	1006	broad.mit.edu	37	16	61851450	61851450	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:61851450C>A	uc002eog.1	-	7	1462	c.1210G>T	c.(1210-1212)GCT>TCT	p.A404S	CDH8_uc002eoh.2_Missense_Mutation_p.A173S	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	404	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTAGAGCAGCATTTTCATGA	0.443			NA											15	73					7.93312e-07	9.64212e-07	0.00245	1	0
RANBP10	57610	broad.mit.edu	37	16	67763221	67763221	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:67763221C>A	uc002eud.2	-	10	1430	c.1314G>T	c.(1312-1314)AAG>AAT	p.K438N	RANBP10_uc010ceo.2_Missense_Mutation_p.K209N|RANBP10_uc010vju.1_Missense_Mutation_p.K382N|RANBP10_uc010vjv.1_Missense_Mutation_p.K321N|RANBP10_uc010vjw.1_Missense_Mutation_p.K99N	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	438	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGTGCTGGGACTTGGTGGAGT	0.438			NA											11	74					4.68919e-08	6.05356e-08	0.008291	1	0
CDH3	1001	broad.mit.edu	37	16	68721600	68721600	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:68721600G>T	uc002ewf.2	+	12	2888	c.1756G>T	c.(1756-1758)GAC>TAC	p.D586Y	CDH3_uc010vli.1_Missense_Mutation_p.D531Y	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	586	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCTCACAGATGACTCAGACAT	0.607			NA											10	50					3.07112e-06	3.66449e-06	0.000978	1	0
AP1G1	164	broad.mit.edu	37	16	71772945	71772945	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:71772945C>A	uc010cgg.2	-	21	2482	c.2168G>T	c.(2167-2169)CGG>CTG	p.R723L	AP1G1_uc002fba.2_Missense_Mutation_p.R726L|AP1G1_uc002fbb.2_Missense_Mutation_p.R746L|AP1G1_uc002faz.2_Missense_Mutation_p.R140L	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	723	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GGTATTTGACCGTTCAAAGGT	0.443			NA											21	109					1.28384e-07	1.62076e-07	0.001882	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77359817	77359817	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:77359817T>A	uc002ffc.3	-	13	2397	c.1978A>T	c.(1978-1980)AGC>TGC	p.S660C	ADAMTS18_uc010chc.1_Missense_Mutation_p.S248C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S356C	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	660	Cys-rich.				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						AAAGGTTTGCTGTTATATTCT	0.393			NA											17	52					0	0	0.00499	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	Pancreas(47;798 1329 9957 10801)	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	40					0	0	0.003954	0	0
MYH8	4626	broad.mit.edu	37	17	10299657	10299657	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10299657T>A	uc002gmm.2	-	33	4738	c.4643A>T	c.(4642-4644)GAG>GTG	p.E1548V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1548	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						CTCTGCTTCCTCTAAAGCAGC	0.313			NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				9	48					0	0	0.006214	0	0
MYH4	4622	broad.mit.edu	37	17	10351278	10351278	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10351278C>T	uc002gmn.2	-	34	4933	c.4822G>A	c.(4822-4824)GAG>AAG	p.E1608K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1608	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTCCTGATCTCAGCATCCAGT	0.453			NA											14	232					0	0	0.00245	0	0
DNAH9	1770	broad.mit.edu	37	17	11671895	11671895	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:11671895G>T	uc002gne.2	+	37	7364	c.7296G>T	c.(7294-7296)TGG>TGT	p.W2432C	DNAH9_uc010coo.2_Missense_Mutation_p.W1726C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2432					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGAGCCTTGGTCCAAGCTCG	0.527			NA											7	71					1.12685e-05	1.32724e-05	0.004482	1	0
ALDH3A2	224	broad.mit.edu	37	17	19555892	19555892	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:19555892A>T	uc002gwb.1	+	3	639	c.418A>T	c.(418-420)AGT>TGT	p.S140C	ALDH3A2_uc002gwa.1_Missense_Mutation_p.S140C|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.S140C	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	140	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TTCTGAACTGAGTGAAAATAC	0.333			NA											35	116					0	0	0.005524	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732045	26732045	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26732045G>C	uc002hbf.1	-	2	766	c.670C>G	c.(670-672)CTC>GTC	p.L224V	SLC46A1_uc002hbg.1_Missense_Mutation_p.L224V|SLC46A1_uc010wak.1_Missense_Mutation_p.L224V	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	224	Helical; (Potential).				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCTGCATAGAGAGTCATGGCT	0.597			NA											24	77					0	0	0.00278	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962061	26962061	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26962061C>T	uc002hbu.2	-	16	2643	c.2544G>A	c.(2542-2544)CTG>CTA	p.L848L		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	848						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GTAGTCCCTTCAGCCACTTCT	0.507			NA											39	238					0	0	0.004878	0	0
DHRS11	79154	broad.mit.edu	37	17	34955412	34955412	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:34955412C>T	uc002hnd.2	+	4	729	c.515C>T	c.(514-516)GCC>GTC	p.A172V	MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	172						extracellular region	binding|oxidoreductase activity				0						ACCAAGTATGCCGTCACTGCG	0.607			NA											4	123					0	0	0.000602	0	0
KRT26	353288	broad.mit.edu	37	17	38926533	38926533	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:38926533A>G	uc002hvf.2	-	3	699	c.653T>C	c.(652-654)TTG>TCG	p.L218S		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	218	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GAGGTAGGTCAATTCCTCACT	0.473			NA											20	87					0	0	0.008871	0	0
C17orf46	124783	broad.mit.edu	37	17	43332645	43332645	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:43332645C>T	uc002iis.1	-	4	1000	c.904G>A	c.(904-906)GAA>AAA	p.E302K	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E281K	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	302										large_intestine(1)|ovary(1)	2						GCTCTGGCTTCGCGTGGTTTC	0.557			NA											53	177					0	0	0.00361	0	0
NXPH3	11248	broad.mit.edu	37	17	47656116	47656116	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:47656116G>T	uc002ipa.2	+	2	497	c.213G>T	c.(211-213)CCG>CCT	p.P71P	NXPH3_uc010wlw.1_Silent_p.P71P	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	71	II.				neuropeptide signaling pathway	extracellular region		p.P71P(1)		pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TGCTGGCCCCGCCTGGGGAGG	0.682			NA											8	50					0.00307968	0.00330379	0.00308	1	0
APPBP2	10513	broad.mit.edu	37	17	58571907	58571907	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:58571907G>C	uc002iys.1	-	3	587	c.299C>G	c.(298-300)TCA>TGA	p.S100*	APPBP2_uc010ddl.1_Nonsense_Mutation_p.S29*	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	100					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CCTACTGAATGAGTAGGCCAA	0.373			NA											13	74					0	0	0.00245	0	0
CACNG5	27091	broad.mit.edu	37	17	64881158	64881158	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:64881158A>T	uc010wqi.1	+	6	866	c.629A>T	c.(628-630)TAC>TTC	p.Y210F	CACNG5_uc010wqj.1_Missense_Mutation_p.Y210F	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	210				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAGGACATGTACAGGCCCCAC	0.632			NA											8	45					0	0	0.004482	0	0
OTOP3	347741	broad.mit.edu	37	17	72943237	72943237	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:72943237C>T	uc010wrr.1	+	6	1287	c.1287C>T	c.(1285-1287)ATC>ATT	p.I429I	OTOP3_uc010wrq.1_Silent_p.I411I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	429	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATGGGCATCGCCTATTTCT	0.612			NA											11	36					0	0	0.000978	0	0
BAIAP2	10458	broad.mit.edu	37	17	79058648	79058648	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:79058648G>A	uc002jzg.2	+	4	342	c.234G>A	c.(232-234)CAG>CAA	p.Q78Q	BAIAP2_uc002jyz.3_Silent_p.Q78Q|BAIAP2_uc002jza.2_Silent_p.Q78Q|BAIAP2_uc002jzc.2_Silent_p.Q78Q|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.Q78Q|BAIAP2_uc002jzf.2_Silent_p.Q78Q|BAIAP2_uc002jze.2_Silent_p.Q111Q|BAIAP2_uc010wuh.1_5'UTR|BAIAP2_uc002jzh.2_5'Flank	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	78	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTCTTCCAGATGGCTGAAG	0.612			NA											34	200					0	0	0.005524	0	0
TBCD	6904	broad.mit.edu	37	17	80772804	80772804	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:80772804G>T	uc002kfz.2	+	13	1442	c.1312G>T	c.(1312-1314)GTG>TTG	p.V438L	TBCD_uc002kfx.1_Missense_Mutation_p.V421L|TBCD_uc002kfy.1_Missense_Mutation_p.V438L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	438					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTCTCGACTCGTGGATGGTGA	0.632			NA											9	40					0.00621372	0.00658856	0.006214	1	0
ANKRD12	23253	broad.mit.edu	37	18	9195663	9195663	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:9195663C>T	uc002knv.2	+	3	459	c.202C>T	c.(202-204)CCA>TCA	p.P68S	ANKRD12_uc010wzn.1_Missense_Mutation_p.P68S|ANKRD12_uc002knw.2_Missense_Mutation_p.P68S|ANKRD12_uc002knx.2_Missense_Mutation_p.P68S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	68						nucleus				ovary(2)|central_nervous_system(1)	3						TACTATTAGCCCATCAAGAAA	0.353			NA											6	63					0	0	0.001168	0	0
CEP192	55125	broad.mit.edu	37	18	13124735	13124735	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:13124735T>G	uc010xac.1	+	45	7660	c.7580T>G	c.(7579-7581)ATT>AGT	p.I2527S	CEP192_uc010xad.1_Missense_Mutation_p.I2052S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.I950S|CEP192_uc002krw.2_Missense_Mutation_p.I677S|CEP192_uc002krx.2_Missense_Mutation_p.I531S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2527										ovary(4)|pancreas(1)	5						AGTATTGCTATTCGACTAATT	0.348			NA											7	34					0	0	0.001984	0	0
CDH2	1000	broad.mit.edu	37	18	25570157	25570157	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:25570157G>C	uc002kwg.2	-	10	1961	c.1502C>G	c.(1501-1503)CCT>CGT	p.P501R	CDH2_uc010xbn.1_Missense_Mutation_p.P470R	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	501	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						AATGATCTTAGGATTGGGGGC	0.453			NA											23	105					0	0	0.00333	0	0
SETBP1	26040	broad.mit.edu	37	18	42530624	42530624	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:42530624G>T	uc010dni.2	+	4	1615	c.1319G>T	c.(1318-1320)GGA>GTA	p.G440V		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	440						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTGGCTTCTGGAATCACCATG	0.443			NA							Schinzel-Giedion_syndrome				18	93					1.33834e-09	1.77281e-09	0.007413	1	0
VPS4B	9525	broad.mit.edu	37	18	61058216	61058216	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:61058216C>T	uc002lix.2	-	11	1587	c.1327G>A	c.(1327-1329)GAA>AAA	p.E443K		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	443					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						GCTTAGCCTTCTTGACCAAAA	0.343			NA											6	36					0	0	0.001984	0	0
KHSRP	8570	broad.mit.edu	37	19	6422415	6422415	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:6422415C>T	uc002mer.3	-	2	392	c.282G>A	c.(280-282)ACG>ACA	p.T94T		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	94	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						TATTCACTGTCGTGGCAGCAT	0.473	Colon(55;593 1006 2067 9135 22980)		NA											23	90					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9065535	9065535	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:9065535G>T	uc002mkp.2	-	3	22115	c.21911C>A	c.(21910-21912)TCC>TAC	p.S7304Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7306	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTTGTGGTGGATATTTCTGG	0.463			NA											19	60					5.03518e-11	6.78784e-11	0.007413	1	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:10600447G>T	uc002moq.1	-	4	1564	c.1408C>A	c.(1408-1410)CGT>AGT	p.R470S	KEAP1_uc002mop.1_Missense_Mutation_p.R188S|KEAP1_uc002mor.1_Missense_Mutation_p.R470S	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557			NA											11	37					0.000673444	0.000747	0.008291	1	0
MAST1	22983	broad.mit.edu	37	19	12975954	12975954	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:12975954C>G	uc002mvm.2	+	14	1728	c.1600C>G	c.(1600-1602)CAC>GAC	p.H534D		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	534	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						ATATGAAGGCCACATCGAGAA	0.577			NA											17	49					0	0	0.006122	0	0
HAPLN4	404037	broad.mit.edu	37	19	19368865	19368865	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19368865C>A	uc002nmb.2	-	5	1025	c.970G>T	c.(970-972)GCC>TCC	p.A324S	HAPLN4_uc002nmc.2_Missense_Mutation_p.A324S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	324	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CTGCCATCGGCCAGCCAACCC	0.746			NA											4	9					4.096e-09	5.36353e-09	0.001168	1	0
HAPLN4	404037	broad.mit.edu	37	19	19369648	19369648	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19369648G>A	uc002nmb.2	-	4	556	c.501C>T	c.(499-501)TAC>TAT	p.Y167Y	HAPLN4_uc002nmc.2_Silent_p.Y167Y	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	167	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CACGGGGGTGGTAGGGAAAGA	0.667			NA											4	10					0	0	0.000602	0	0
ATP4A	495	broad.mit.edu	37	19	36051326	36051326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:36051326G>T	uc002oal.1	-	6	755	c.726C>A	c.(724-726)TGC>TGA	p.C242*	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	242	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTCGTGCGTGCACTCGGGTG	0.657			NA											13	100					2.27111e-07	2.85922e-07	0.001368	1	0
DLL3	10683	broad.mit.edu	37	19	39996085	39996085	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:39996085C>T	uc002olx.2	+	6	1145	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	DLL3_uc010egq.2_Missense_Mutation_p.R363C|DLL3_uc002olw.2_Missense_Mutation_p.R363C	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	363	EGF-like 4.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCATGCCGCAATGGTGA	0.428			NA											12	83					0	0	0.001368	0	0
PSG8	440533	broad.mit.edu	37	19	43262225	43262225	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43262225C>G	uc002ouo.2	-	3	736	c.638G>C	c.(637-639)GGA>GCA	p.G213A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.G52A|PSG8_uc002ouh.2_Missense_Mutation_p.G213A|PSG8_uc010ein.2_Missense_Mutation_p.G91A|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.G52A|PSG8_uc002oul.3_Missense_Mutation_p.G213A|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	213	Ig-like C2-type 1.					extracellular region					0		Prostate(69;0.00899)				TTCATAGGGTCCTGCAGTGTA	0.502			NA											67	396					0	0	0.00361	0	0
PSG6	5675	broad.mit.edu	37	19	43421920	43421920	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43421920A>G	uc002ovj.1	-	1	77	c.25T>C	c.(25-27)TGC>CGC	p.C9R	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.C9R|PSG6_uc002ovg.1_Missense_Mutation_p.C9R	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	9					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				TGCTGAGTGCAGGGAGGGGCT	0.597			NA											17	129					0	0	0.00499	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43576027C>A	uc002ovr.2	-	4	882	c.789G>T	c.(787-789)GCG>GCT	p.A263A	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443			NA											50	289					1.56793e-16	2.27474e-16	0.00361	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51645668	51645668	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:51645668G>C	uc002pvv.1	+	1	111	c.42G>C	c.(40-42)GAG>GAC	p.E14D	SIGLEC7_uc002pvw.1_Missense_Mutation_p.E14D|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.E14D	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	14					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGGAGGGAGAGGGTGGAAG	0.507			NA											3	27					0	0	0.004672	0	0
ZNF613	79898	broad.mit.edu	37	19	52447376	52447376	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:52447376C>G	uc002pxz.1	+	6	663	c.240C>G	c.(238-240)ATC>ATG	p.I80M	ZNF613_uc002pya.1_Missense_Mutation_p.I44M	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCTAGAAATCAAGAAAGTTG	0.368			NA											5	20					0	0	0.001168	0	0
PTPRH	5794	broad.mit.edu	37	19	55711859	55711859	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:55711859C>A	uc002qjq.2	-	7	1238	c.1165G>T	c.(1165-1167)GTG>TTG	p.V389L	PTPRH_uc010esv.2_Missense_Mutation_p.V211L|PTPRH_uc002qjs.2_Missense_Mutation_p.V396L	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	389	Extracellular (Potential).|Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTTTCTCACTGGGTTGGGG	0.547			NA											14	69					7.93312e-07	9.64212e-07	0.00245	1	0
NLRP4	147945	broad.mit.edu	37	19	56370564	56370564	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:56370564T>A	uc002qmd.3	+	3	2227	c.1805T>A	c.(1804-1806)CTC>CAC	p.L602H	NLRP4_uc002qmf.2_Missense_Mutation_p.L527H|NLRP4_uc010etf.2_Missense_Mutation_p.L433H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	602							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGAGGAAACTCTGTTTTTCC	0.408			NA											15	65					0	0	0.004007	0	0
ZIM3	114026	broad.mit.edu	37	19	57646704	57646704	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:57646704G>T	uc002qnz.1	-	5	1387	c.1001C>A	c.(1000-1002)CCC>CAC	p.P334H		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATTTATAGGGTTTCTCTCC	0.413			NA											27	119					1.77063e-15	2.53661e-15	0.005443	1	0
SULT6B1	391365	broad.mit.edu	37	2	37406698	37406698	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:37406698A>T	uc002rpu.2	-	4	339	c.318T>A	c.(316-318)GAT>GAA	p.D106E	SULT6B1_uc010yni.1_RNA	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	144	PAPS (By similarity).					cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				ATACTGCTGTATCTTTAGGGT	0.363			NA											24	75					0	0	0.009535	0	0
NRXN1	9378	broad.mit.edu	37	2	50850703	50850703	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:50850703C>A	uc010fbq.2	-	6	2459	c.982G>T	c.(982-984)GAC>TAC	p.D328Y	NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.D295Y|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGACAAGTCGTAGCAGAAG	0.383			NA											25	89					2.98393e-07	3.74631e-07	0.00278	1	0
ERLEC1	27248	broad.mit.edu	37	2	54045061	54045061	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:54045061C>A	uc002rxl.2	+	14	1687	c.1407C>A	c.(1405-1407)ATC>ATA	p.I469I	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.I443I|ERLEC1_uc002rxn.2_Silent_p.I415I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	469					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						TCTGTAAAATCTTAGATACAG	0.333			NA											21	116					5.35047e-06	6.35108e-06	0.00333	1	0
PNPT1	87178	broad.mit.edu	37	2	55874526	55874526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:55874526C>A	uc002rzf.2	-	19	1611	c.1558G>T	c.(1558-1560)GAG>TAG	p.E520*	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	520					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACCCTTCTCAGGATCGGTT	0.333			NA											18	70					9.95505e-16	1.43516e-15	0.002299	1	0
LOC388955	388955	broad.mit.edu	37	2	63849695	63849695	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:63849695G>T	uc002sck.1	-	1	465	c.271C>A	c.(271-273)CAG>AAG	p.Q91K		NR_003131				SubName: Full=Px19-like protein, isoform CRA_c; SubName: Full=cDNA, FLJ92457, Homo sapiens px19-like protein (PX19), mRNA;												0						GTCATGGTCTGATTCTGTGGG	0.527			NA											9	40					0.00448238	0.00478609	0.004482	1	0
ALMS1	7840	broad.mit.edu	37	2	73680829	73680829	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:73680829C>T	uc002sje.1	+	10	7289	c.7178C>T	c.(7177-7179)CCT>CTT	p.P2393L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2349L|ALMS1_uc002sjg.2_Missense_Mutation_p.P1779L|ALMS1_uc002sjh.1_Missense_Mutation_p.P1779L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2391					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGGTCTGAACCTGAAGGGTGT	0.403			NA											18	64					0	0	0.00499	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529996	80529996	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:80529996C>A	uc002sok.1	-	2	1219	c.949G>T	c.(949-951)GAT>TAT	p.D317Y	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	317	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGCCCGCAATCCCACAGGTTC	0.632			NA								HNSCC(69;0.2)			7	33					0.00307968	0.00330379	0.00308	1	0
NCAPH	23397	broad.mit.edu	37	2	97019094	97019094	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97019094G>T	uc002svz.1	+	8	1045	c.961G>T	c.(961-963)GGG>TGG	p.G321W	NCAPH_uc010fhu.1_Missense_Mutation_p.G297W|NCAPH_uc010fhv.1_Missense_Mutation_p.G310W|NCAPH_uc010yum.1_Missense_Mutation_p.G297W|NCAPH_uc010fhw.1_Missense_Mutation_p.G310W|NCAPH_uc010yun.1_Missense_Mutation_p.G185W|NCAPH_uc002swa.1_5'UTR	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	321					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				TTCCCTGGCCGGGTTCCAGTT	0.517			NA											3	28					0.004672	0.00496536	0.004672	1	0
ANKRD23	200539	broad.mit.edu	37	2	97509718	97509718	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97509718G>A	uc002sxa.2	-	1	41	c.12C>T	c.(10-12)ATC>ATT	p.I4I	ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Silent_p.I4I	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	diabetes related ankyrin repeat protein	4						nucleus				ovary(1)	1						GCTGAATGCTGATGAAGTCCA	0.602			NA											65	284					0	0	0.00361	0	0
FAM123C	205147	broad.mit.edu	37	2	131521473	131521473	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:131521473G>A	uc002trw.2	+	2	2018	c.1828G>A	c.(1828-1830)GAA>AAA	p.E610K	FAM123C_uc010fmv.2_Missense_Mutation_p.E610K|FAM123C_uc010fms.1_Missense_Mutation_p.E610K|FAM123C_uc010fmt.1_Missense_Mutation_p.E610K|FAM123C_uc010fmu.1_Missense_Mutation_p.E610K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	610										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGTCACTCTGAAGGCTTGTT	0.577			NA											13	81					0	0	0.004007	0	0
MGAT5	4249	broad.mit.edu	37	2	135119848	135119848	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:135119848C>A	uc002ttv.1	+	10	1394	c.1249C>A	c.(1249-1251)CAT>AAT	p.H417N		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	417	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CACACCAGCTCATACCCCAGA	0.428			NA											59	290					2.12129e-23	3.19943e-23	0.00361	1	0
TTN	7273	broad.mit.edu	37	2	179438298	179438298	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179438298G>C	uc010zfg.1	-	275	65081	c.64857C>G	c.(64855-64857)CTC>CTG	p.L21619L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L15314L|TTN_uc010zfi.1_Silent_p.L15247L|TTN_uc010zfj.1_Silent_p.L15122L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22546							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)			TGCCTTTCAAGAGTTTAGTGA	0.408			NA											67	377					0	0	0.00361	0	0
TTN	7273	broad.mit.edu	37	2	179455351	179455351	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179455351C>A	uc010zfg.1	-	253	53621	c.53397G>T	c.(53395-53397)CGG>CGT	p.R17799R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R11494R|TTN_uc010zfi.1_Silent_p.R11427R|TTN_uc010zfj.1_Silent_p.R11302R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18726							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)			GTTTGATGGGCCGGCAAGCTT	0.428			NA											31	157					5.71845e-15	8.11594e-15	0.005524	1	0
TTN	7273	broad.mit.edu	37	2	179466608	179466608	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179466608C>G	uc010zfg.1	-	234	47822	c.47598_splice	c.e234+1	p.Q15866_splice	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q9561_splice|TTN_uc010zfi.1_Splice_Site_p.Q9494_splice|TTN_uc010zfj.1_Splice_Site_p.Q9369_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			tatttttttaCCTGTGCATCT	0.313			NA											17	58					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179584073G>A	uc010zfg.1	-	80	20536	c.20312C>T	c.(20311-20313)TCA>TTA	p.S6771L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3432L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7698							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)			CCAGCCAACTGAAATCGGGGC	0.502			NA											26	126					0	0	0.00632	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694578	187694578	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:187694578C>A	uc002upu.1	-	8	1011	c.971G>T	c.(970-972)AGA>ATA	p.R324I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	324					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGCAGTGATCTTACAATGTG	0.393			NA											11	83					0.00010058	0.000116662	0.001368	1	0
COL3A1	1281	broad.mit.edu	37	2	189859511	189859511	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:189859511C>A	uc002uqj.1	+	20	1526	c.1409C>A	c.(1408-1410)CCT>CAT	p.P470H		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	470	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GATGGATCACCTGGAGAACCT	0.438			NA											12	64					0.00244969	0.00265917	0.00245	1	0
SPAG16	79582	broad.mit.edu	37	2	215274946	215274946	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215274946C>A	uc002veq.2	+	16	1895	c.1803C>A	c.(1801-1803)GGC>GGA	p.G601G	SPAG16_uc002ver.2_Silent_p.G547G|SPAG16_uc010zjk.1_Silent_p.G507G|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	601	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AATTGATGGGCCACGAAAACG	0.502			NA											28	113					5.77227e-19	8.5647e-19	0.008361	1	0
ABCA12	26154	broad.mit.edu	37	2	215855551	215855551	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215855551C>T	uc002vew.2	-	24	3719	c.3499G>A	c.(3499-3501)GTC>ATC	p.V1167I	ABCA12_uc002vev.2_Missense_Mutation_p.V849I|ABCA12_uc010zjn.1_Missense_Mutation_p.V94I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1167					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)		TTGAAGAAGACACTGATAAGA	0.393	Ovarian(66;664 1488 5121 34295)		NA											13	63					0	0	0.001368	0	0
SPEG	10290	broad.mit.edu	37	2	220353374	220353374	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:220353374C>A	uc010fwg.2	+	33	8013	c.8013C>A	c.(8011-8013)ACC>ACA	p.T2671T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2671	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCCTGTACCGTGGCTGTGG	0.672			NA											3	35					0.004672	0.00496536	0.004672	1	0
IRS1	3667	broad.mit.edu	37	2	227661440	227661440	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:227661440G>C	uc002voh.3	-	1	2067	c.2015C>G	c.(2014-2016)TCT>TGT	p.S672C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	672					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AATGTCAGGAGAGCAGCCACC	0.537			NA									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	82					0	0	0.008291	0	0
NCL	4691	broad.mit.edu	37	2	232322434	232322435	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322434_232322435CC>AA	uc002vru.2	-	9	1507_1508	c.1366_1367GG>TT	c.(1366-1368)GGG>TTG	p.G456L	SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	456	RRM 2.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AATAGATCGCCCATCGATCTCT	0.401			NA											8	96					0	0	0.004672	0	0
NCL	4691	broad.mit.edu	37	2	232322437	232322437	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322437T>A	uc002vru.2	-	9	1505	c.1364A>T	c.(1363-1365)GAT>GTT	p.D455V	SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	455	RRM 2.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATCGCCCATCGATCTCTGT	0.408			NA											8	95					0	0	0.006214	0	0
RRBP1	6238	broad.mit.edu	37	20	17602407	17602407	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:17602407C>T	uc002wpv.1	-	16	2307	c.1953G>A	c.(1951-1953)GAG>GAA	p.E651E	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Silent_p.E21E|RRBP1_uc002wpu.2_Silent_p.E425E|RRBP1_uc002wpw.1_Silent_p.E651E|RRBP1_uc010gcl.1_Silent_p.E425E|RRBP1_uc010gcm.1_Silent_p.E104E	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1084	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCTGCAGCCACTCGGTGTAAT	0.607			NA											4	53					0	0	0.001168	0	0
XRN2	22803	broad.mit.edu	37	20	21314221	21314221	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:21314221G>C	uc002wsf.1	+	10	993	c.898G>C	c.(898-900)GAG>CAG	p.E300Q	XRN2_uc002wsg.1_Missense_Mutation_p.E224Q|XRN2_uc010zsk.1_Missense_Mutation_p.E246Q	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	300					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TGCAGAAGGAGAGTTTATCTT	0.413			NA											22	149					0	0	0.002299	0	0
DEFB119	245932	broad.mit.edu	37	20	29965242	29965242	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:29965242C>G	uc002wvt.2	-	2	182	c.62G>C	c.(61-63)GGC>GCC	p.G21A	DEFB119_uc002wvs.2_Missense_Mutation_p.R34S	NM_153289	NP_695021	Q8N690	DB119_HUMAN	defensin, beta 119 isoform a precursor	21					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGCGTTTGCCTGCCAAAGG	0.433			NA											19	88					0	0	0.007413	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874333	36874333	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:36874333A>T	uc002xhy.1	-	2	471	c.199T>A	c.(199-201)TGT>AGT	p.C67S	KIAA1755_uc002xhz.1_Missense_Mutation_p.C67S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	67										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				TGACTTACACAGGCTGCTTCT	0.582			NA											9	42					0	0	0.004482	0	0
MYBL2	4605	broad.mit.edu	37	20	42338633	42338633	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:42338633G>T	uc002xlb.1	+	10	1751	c.1536G>T	c.(1534-1536)ATG>ATT	p.M512I	MYBL2_uc010zwj.1_Missense_Mutation_p.M488I	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTACTCCATGGACAACACTC	0.617			NA											27	209					1.30988e-24	2.00206e-24	0.002096	1	0
STK4	6789	broad.mit.edu	37	20	43703736	43703736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:43703736G>C	uc002xnb.2	+	11	1473	c.1383G>C	c.(1381-1383)GAG>GAC	p.E461D	STK4_uc010ggx.2_3'UTR|STK4_uc010ggy.2_Missense_Mutation_p.E406D	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	461	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				AGATTGAAGAGATCCGGCAGA	0.532	GBM(187;1039 2137 11798 21916 33213)		NA											5	39					0	0	0.000602	0	0
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:50048903G>A	uc002xwd.2	-	9	2643	c.2423C>T	c.(2422-2424)TCG>TTG	p.S808L	NFATC2_uc002xwc.2_Missense_Mutation_p.S808L|NFATC2_uc010zyv.1_Missense_Mutation_p.S589L|NFATC2_uc010zyw.1_Missense_Mutation_p.S589L|NFATC2_uc010zyx.1_Missense_Mutation_p.S788L|NFATC2_uc010zyy.1_Missense_Mutation_p.S589L|NFATC2_uc010zyz.1_Missense_Mutation_p.S589L|NFATC2_uc002xwe.2_Missense_Mutation_p.S788L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	808					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647			NA											14	84					0	0	0.004007	0	0
ZNF217	7764	broad.mit.edu	37	20	52198638	52198638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:52198638G>T	uc002xwq.3	-	1	999	c.728C>A	c.(727-729)GCT>GAT	p.A243D	ZNF217_uc010gij.1_Missense_Mutation_p.A235D	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	243					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGTACCGAAAGCAGTTTTTTT	0.478			NA											31	201					1.08312e-15	1.55656e-15	0.009535	1	0
TFAP2C	7022	broad.mit.edu	37	20	55209278	55209278	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:55209278G>A	uc002xya.2	+	5	1119	c.876G>A	c.(874-876)GGG>GGA	p.G292G	TFAP2C_uc010zzi.1_Silent_p.G123G	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	292					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			TTCCGGCCGGGAGGCGGAAAG	0.468			NA											24	55					0	0	0.004656	0	0
CTCFL	140690	broad.mit.edu	37	20	56073662	56073662	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56073662C>G	uc010gix.1	-	10	2598	c.1936G>C	c.(1936-1938)GAG>CAG	p.E646Q	CTCFL_uc010giw.1_Missense_Mutation_p.E646Q|CTCFL_uc002xym.2_Missense_Mutation_p.E646Q|CTCFL_uc010giz.1_Missense_Mutation_p.E234Q|CTCFL_uc010giy.1_Missense_Mutation_p.E316Q|CTCFL_uc010gja.1_Missense_Mutation_p.E596Q|CTCFL_uc010gjb.1_Missense_Mutation_p.E646Q|CTCFL_uc010gjc.1_Missense_Mutation_p.E646Q|CTCFL_uc010gjd.1_Missense_Mutation_p.E646Q|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_Intron	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	646					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCACTTCCTCTTTGACTCTG	0.527			NA											27	198					0	0	0.008361	0	0
CTCFL	140690	broad.mit.edu	37	20	56090879	56090879	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56090879C>G	uc010gix.1	-	5	1733	c.1071G>C	c.(1069-1071)TTG>TTC	p.L357F	CTCFL_uc010giw.1_Missense_Mutation_p.L357F|CTCFL_uc002xym.2_Missense_Mutation_p.L357F|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.L357F|CTCFL_uc010gjb.1_Missense_Mutation_p.L357F|CTCFL_uc010gjc.1_Missense_Mutation_p.L357F|CTCFL_uc010gjd.1_Missense_Mutation_p.L357F|CTCFL_uc010gje.2_Missense_Mutation_p.L357F|CTCFL_uc010gjf.2_Missense_Mutation_p.L152F|CTCFL_uc010gjg.2_Missense_Mutation_p.L89F|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.L152F|CTCFL_uc010gjj.1_Missense_Mutation_p.L357F	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	357	C2H2-type 4.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATGGCGCTTCAATTTACTTG	0.418			NA											27	140					0	0	0.005443	0	0
DIDO1	11083	broad.mit.edu	37	20	61513077	61513077	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:61513077C>G	uc002ydr.1	-	16	4495	c.4231G>C	c.(4231-4233)GAA>CAA	p.E1411Q	DIDO1_uc002yds.1_Missense_Mutation_p.E1411Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1411					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGAGCCCTTTCCACCTCGTGG	0.607	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)		NA											12	165					0	0	0.001855	0	0
JAM2	58494	broad.mit.edu	37	21	27066141	27066141	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:27066141G>A	uc002ylp.1	+	4	860	c.315G>A	c.(313-315)GGG>GGA	p.G105G	JAM2_uc011ace.1_Silent_p.G105G|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Silent_p.G69G|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Silent_p.G105G|JAM2_uc010gli.1_Silent_p.G105G	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	105	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0						GTGATGCGGGGAAATATCGTT	0.393			NA											20	110					0	0	0.001882	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709806	31709806	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:31709806G>T	uc002ynx.1	-	1	207	c.181C>A	c.(181-183)CAA>AAA	p.Q61K		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	61						intermediate filament				ovary(2)	2						TTGGTCATTTGGCAGCTGGTG	0.453			NA											21	112					6.33239e-15	8.95944e-15	0.010504	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047816	46047816	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:46047816G>T	uc002zfp.3	+	1	777	c.728G>T	c.(727-729)TGC>TTC	p.C243F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	243	24.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						AGGCCCGCCTGCTGCGTGCCC	0.697			NA											47	155					7.88023e-25	1.20848e-24	0.00361	1	0
GNAZ	2781	broad.mit.edu	37	22	23438485	23438485	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:23438485C>T	uc002zwu.1	+	2	1140	c.603C>T	c.(601-603)GAC>GAT	p.D201D	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	201	GTP (By similarity).					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGATGGTGGACGTGGGGGGGC	0.572			NA											21	150					0	0	0.008871	0	0
CHEK2	11200	broad.mit.edu	37	22	29130657	29130657	+	Missense_Mutation	SNP	C	C	G	rs151218932	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:29130657C>G	uc003adu.1	-	2	125	c.53G>C	c.(52-54)TGT>TCT	p.C18S	CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Missense_Mutation_p.C18S|CHEK2_uc010gvi.1_Missense_Mutation_p.C18S|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.C18S|CHEK2_uc003adv.1_Missense_Mutation_p.C18S|CHEK2_uc003adw.1_Missense_Mutation_p.C18S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.C18S|CHEK2_uc003adz.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	18					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						GGGCTGTGAACAGGCACTGCT	0.557			NA	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				31	88					0	0	0.002096	0	0
NCF4	4689	broad.mit.edu	37	22	37272127	37272127	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:37272127A>T	uc003apy.3	+	9	999	c.815A>T	c.(814-816)GAG>GTG	p.E272V	NCF4_uc003apz.3_3'UTR	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	272					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						GACCTGCTGGAGCTCACAAGG	0.493			NA											5	23					0	0	0.001168	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42538870A>C	uc003bci.2	-	3	475	c.94T>G	c.(94-96)TCG>GCG	p.S32A	CYP2D7P1_uc003bcg.2_5'Flank|CYP2D7P1_uc003bch.2_5'Flank|CYP2D7P1_uc010gyv.2_Intron|CYP2D7P1_uc010gyw.2_RNA|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A	NR_002570				SubName: Full=Cytochrome P450 2D6;          EC=1.14.14.1;												0						CCATAGCGCGACAGGAACACC	0.687	GBM(91;329 1845 13264 22235)		NA											3	22					0	0	0.000602	0	0
TCF20	6942	broad.mit.edu	37	22	42607837	42607837	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42607837C>T	uc003bcj.1	-	1	3609	c.3475G>A	c.(3475-3477)GAG>AAG	p.E1159K	TCF20_uc003bck.1_Missense_Mutation_p.E1159K|TCF20_uc003bnt.2_Missense_Mutation_p.E1159K	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CGCCCAGCCTCCTGGGCACTG	0.507			NA											19	92					0	0	0.007413	0	0
EFCAB6	64800	broad.mit.edu	37	22	44073894	44073894	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:44073894C>G	uc003bdy.1	-	13	1616	c.1401G>C	c.(1399-1401)CTG>CTC	p.L467L	EFCAB6_uc003bdz.1_Silent_p.L315L|EFCAB6_uc010gzi.1_Silent_p.L315L|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_3'UTR	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	467	EF-hand 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTCTTCAATCAGATCAATAA	0.388			NA											7	41					0	0	0.001984	0	0
SMC1B	27127	broad.mit.edu	37	22	45755800	45755800	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:45755800T>A	uc003bgc.2	-	18	2799	c.2747A>T	c.(2746-2748)CAA>CTA	p.Q916L	SMC1B_uc003bgd.2_Missense_Mutation_p.Q916L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	916	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAGAAGTTTGAATACTTAC	0.373			NA											5	29					0	0	0.000602	0	0
PLCL2	23228	broad.mit.edu	37	3	17056292	17056292	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:17056292G>T	uc011awc.1	+	6	2988	c.2883G>T	c.(2881-2883)GGG>GGT	p.G961G	PLCL2_uc011awd.1_Silent_p.G843G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	969					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						GCTTTCTGGGGCCCGATAACA	0.537			NA											40	133					1.62957e-23	2.46594e-23	0.00874	1	0
TOP2B	7155	broad.mit.edu	37	3	25672356	25672356	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:25672356C>A	uc011awn.1	-	11	1384	c.1341G>T	c.(1339-1341)AAG>AAT	p.K447N	TOP2B_uc003cdj.2_Missense_Mutation_p.K442N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	447					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						CTGATGAACACTTCTTATTCA	0.313			NA											14	69					7.93312e-07	9.64212e-07	0.00245	1	0
CCDC13	152206	broad.mit.edu	37	3	42781129	42781129	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:42781129G>A	uc003cly.3	-	9	1245	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	387	Potential.									ovary(1)	1						GCCATACCATGAGGGCGTCGA	0.607			NA											6	48					0	0	0.00308	0	0
TGM4	7047	broad.mit.edu	37	3	44951754	44951754	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:44951754C>A	uc003coc.3	+	11	1573	c.1500C>A	c.(1498-1500)GCC>GCA	p.A500A		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	500					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGACCGCTGCCCTACAGAATG	0.438			NA											22	90					1.85244e-09	2.43967e-09	0.00333	1	0
SCAP	22937	broad.mit.edu	37	3	47465464	47465464	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47465464G>C	uc003crh.1	-	9	1364	c.1109C>G	c.(1108-1110)TCA>TGA	p.S370*	SCAP_uc011baz.1_Nonsense_Mutation_p.S115*|SCAP_uc003crg.2_5'UTR	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	370	SSD.|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TACCGGGGTTGAGACCACAGA	0.577	Pancreas(149;978 1908 29304 37806 46700)		NA											5	30					0	0	0.001168	0	0
CSPG5	10675	broad.mit.edu	37	3	47618951	47618951	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47618951G>T	uc003crp.3	-	2	741	c.565C>A	c.(565-567)CCA>ACA	p.P189T	CSPG5_uc003crn.2_Missense_Mutation_p.P51T|CSPG5_uc003cro.3_Missense_Mutation_p.P189T|CSPG5_uc011bbb.1_Missense_Mutation_p.P51T	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	189	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCAGCTCTGGCCCTTGAGGG	0.607			NA											8	48					0.00307968	0.00330379	0.00308	1	0
OR5K3	403277	broad.mit.edu	37	3	98110219	98110219	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:98110219C>A	uc011bgw.1	+	1	710	c.710C>A	c.(709-711)TCT>TAT	p.S237Y		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAGCTTTATCTACTTGTGCA	0.358			NA											16	104					8.60227e-14	1.2059e-13	0.004007	1	0
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:108271090C>G	uc003dxb.3	-	20	2807	c.2538G>C	c.(2536-2538)TTG>TTC	p.L846F		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	846	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						CCTTAATGCTCAACTCTTTTC	0.313			NA											8	56					0	0	0.004482	0	0
HCLS1	3059	broad.mit.edu	37	3	121351263	121351263	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:121351263T>A	uc003eeh.3	-	12	1281	c.1156A>T	c.(1156-1158)AGG>TGG	p.R386W	HCLS1_uc011bjj.1_Missense_Mutation_p.R349W|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TGCTCATGCCTGTCCATCTCC	0.428			NA											43	247					0	0	0.00361	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646762	122646762	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:122646762G>A	uc003efz.1	-	8	1029	c.725C>T	c.(724-726)TCC>TTC	p.S242F	SEMA5B_uc011bju.1_Missense_Mutation_p.S184F|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S242F|SEMA5B_uc010hro.1_Missense_Mutation_p.S184F|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	242	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCCCTGGGAGGAGATGACAGC	0.627			NA											6	87					0	0	0.001984	0	0
HEG1	57493	broad.mit.edu	37	3	124731533	124731533	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:124731533T>A	uc003ehs.3	-	6	2958	c.2890A>T	c.(2890-2892)AAA>TAA	p.K964*	HEG1_uc011bke.1_Nonsense_Mutation_p.K1064*	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	964	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GTGGCAGATTTGGGAGCCAAG	0.517			NA											10	34					0	0	0.008291	0	0
NEK11	79858	broad.mit.edu	37	3	130873949	130873949	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:130873949C>T	uc003eny.2	+	10	1272	c.946C>T	c.(946-948)CAT>TAT	p.H316Y	NEK11_uc003enx.2_Missense_Mutation_p.H316Y|NEK11_uc003eoa.2_Missense_Mutation_p.H316Y|NEK11_uc003enz.2_Missense_Mutation_p.H134Y|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.H168Y|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.H316Y	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	316					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						GGAGGCTGCTCATATAATTAA	0.308			NA											9	47					0	0	0.004482	0	0
DZIP1L	199221	broad.mit.edu	37	3	137783472	137783472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:137783472G>A	uc003erq.2	-	15	2503	c.2140C>T	c.(2140-2142)CAG>TAG	p.Q714*		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	714						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CATCCTACCTGAGGCTTCCTT	0.557			NA											34	227					0	0	0.005524	0	0
TIPARP	25976	broad.mit.edu	37	3	156396125	156396125	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:156396125C>T	uc003fav.2	+	2	887	c.639C>T	c.(637-639)GAC>GAT	p.D213D	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.D213D	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	213							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTTTCAGGACAAAAGTGAAG	0.423	Ovarian(171;276 1987 3319 6837 11197)		NA											22	62					0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164780173	164780173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:164780173G>A	uc003fei.2	-	9	1068	c.1006C>T	c.(1006-1008)CAA>TAA	p.Q336*		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	336	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGATACTGTTGAACTACTTGT	0.323			NA								HNSCC(35;0.089)			10	60					0	0	0.008291	0	0
SAMD7	344658	broad.mit.edu	37	3	169644836	169644836	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:169644836C>A	uc003fgd.2	+	6	1053	c.786C>A	c.(784-786)CCC>CCA	p.P262P	SAMD7_uc003fge.2_Silent_p.P262P|SAMD7_uc011bpo.1_Silent_p.P163P	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	262										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATAGGAAACCCTGGGGGTCTC	0.527			NA											8	64					0.00448238	0.00478609	0.004482	1	0
MUC4	4585	broad.mit.edu	37	3	195475820	195475820	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:195475820A>G	uc011bto.1	-	25	16063	c.15603T>C	c.(15601-15603)TGT>TGC	p.C5201C	MUC4_uc010hzq.2_Silent_p.C186C|MUC4_uc003fuz.2_Silent_p.C927C|MUC4_uc003fva.2_Silent_p.C809C|MUC4_uc003fvb.2_Silent_p.C845C|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.C845C|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.C809C|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.C893C|MUC4_uc011bti.1_Silent_p.C893C|MUC4_uc011btj.1_Silent_p.C1070C|MUC4_uc011btk.1_Silent_p.C809C|MUC4_uc011btl.1_Silent_p.C838C|MUC4_uc011btm.1_Silent_p.C1018C|MUC4_uc011btn.1_Silent_p.C809C|MUC4_uc003fvo.2_Silent_p.C1093C|MUC4_uc003fvp.2_Silent_p.C1042C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2086	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCCATGGTCACAGTAGCCCC	0.637			NA											6	91					0	0	0.001984	0	0
SLIT2	9353	broad.mit.edu	37	4	20600010	20600010	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:20600010C>T	uc003gpr.1	+	33	3888	c.3684C>T	c.(3682-3684)GCC>GCT	p.A1228A	SLIT2_uc003gps.1_Silent_p.A1220A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1228	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CAGCTTCTGCCATTTACAGGT	0.453			NA											21	122					0	0	0.002299	0	0
GBA3	57733	broad.mit.edu	37	4	22748973	22748974	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:22748973_22748974CC>AT	uc003gqp.3	+	3	432_433	c.341_342CC>AT	c.(340-342)CCC>CAT	p.P114H	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P115H	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	114					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GGGGTTACTCCCATTGTGACCC	0.376			NA											28	195					0	0	0.004672	0	0
FAM114A1	92689	broad.mit.edu	37	4	38945163	38945163	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:38945163G>A	uc003gtn.2	+	15	1853	c.1677G>A	c.(1675-1677)TTG>TTA	p.L559L	FAM114A1_uc011byh.1_Silent_p.L352L|FAM114A1_uc010ifi.2_Silent_p.L217L	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	559						cytoplasm				ovary(1)	1						CCAGTTGTTTGAAAGCACAGC	0.522			NA											12	69					0	0	0.000978	0	0
RFC1	5981	broad.mit.edu	37	4	39291474	39291474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:39291474C>G	uc003gty.1	-	24	3491	c.3357G>C	c.(3355-3357)ATG>ATC	p.M1119I	RFC1_uc003gtx.1_Missense_Mutation_p.M1118I	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1119					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						CTACCTTGATCATGGCATCAG	0.398	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)		NA											19	134					0	0	0.008871	0	0
LIMCH1	22998	broad.mit.edu	37	4	41687770	41687770	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:41687770A>T	uc003gvu.3	+	23	2913	c.2859A>T	c.(2857-2859)TCA>TCT	p.S953S	LIMCH1_uc003gvv.3_Silent_p.S953S|LIMCH1_uc003gvw.3_Silent_p.S952S|LIMCH1_uc003gvx.3_Silent_p.S965S|LIMCH1_uc003gwe.3_Silent_p.S876S|LIMCH1_uc003gvy.3_Silent_p.S781S|LIMCH1_uc003gwa.3_Silent_p.S793S|LIMCH1_uc003gvz.3_Silent_p.S1337S|LIMCH1_uc011byu.1_Silent_p.S786S|LIMCH1_uc003gwc.3_Silent_p.S798S|LIMCH1_uc003gwd.3_Silent_p.S786S|LIMCH1_uc011byv.1_Silent_p.S703S|LIMCH1_uc011byw.1_Silent_p.S252S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	953					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CGCACAGTTCAGAAGATGTGA	0.443			NA											6	52					0	0	0.001984	0	0
WDFY3	23001	broad.mit.edu	37	4	85738544	85738544	+	Splice_Site	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:85738544C>A	uc003hpd.2	-	13	2295	c.1887_splice	c.e13+1	p.R629_splice	WDFY3_uc003hpf.2_Splice_Site_p.R629_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAAACTTACCCTTAAAATA	0.398			NA											26	181					3.28513e-13	4.56323e-13	0.003954	1	0
HERC3	8916	broad.mit.edu	37	4	89574133	89574133	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:89574133G>T	uc003hrw.1	+	6	743	c.577G>T	c.(577-579)GCT>TCT	p.A193S	HERC3_uc003hrv.2_Missense_Mutation_p.A193S|HERC3_uc011cdn.1_Missense_Mutation_p.A75S	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	193	RCC1 4.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GATCCCACTGGCTCAGGTGGC	0.617			NA											16	77					2.32078e-09	3.0477e-09	0.003163	1	0
MMRN1	22915	broad.mit.edu	37	4	90857868	90857868	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:90857868G>T	uc003hst.2	+	6	3108	c.3037G>T	c.(3037-3039)GCA>TCA	p.A1013S	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.A755S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1013					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAAATTAACGCACTTAAGAA	0.383			NA											15	88					1.15088e-07	1.45693e-07	0.004007	1	0
ADH4	127	broad.mit.edu	37	4	100062826	100062826	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:100062826G>T	uc003hun.2	-	3	204	c.128C>A	c.(127-129)GCT>GAT	p.A43D	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.A62D	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	43					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGAGAGGTAGCAATGATCTA	0.398			NA											7	29					0.00307968	0.00330379	0.00308	1	0
DKK2	27123	broad.mit.edu	37	4	107846973	107846973	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:107846973C>A	uc003hyi.2	-	2	1061	c.356G>T	c.(355-357)AGT>ATT	p.S119I	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.S119I	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	119	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGCGGGTACTGGGGCAGCA	0.502			NA											28	184					3.69857e-22	5.56002e-22	0.008361	1	0
LRIT3	345193	broad.mit.edu	37	4	110790971	110790971	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:110790971G>C	uc003hzx.3	+	3	1124	c.931G>C	c.(931-933)GAC>CAC	p.D311H	LRIT3_uc003hzw.3_Missense_Mutation_p.D173H	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	311						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AATACCACCAGACACTTCTGA	0.463			NA											38	213					0	0	0.004878	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140583	123140583	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:123140583C>G	uc003ieh.2	+	19	2381	c.2336C>G	c.(2335-2337)TCT>TGT	p.S779C	KIAA1109_uc003iei.1_Missense_Mutation_p.S533C|KIAA1109_uc010ins.1_Missense_Mutation_p.S123C|KIAA1109_uc003iej.1_Missense_Mutation_p.S164C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	779	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCATCCAGCTCTGGGTGGACT	0.393			NA											26	118					0	0	0.004656	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966314	139966314	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:139966314G>C	uc003ihl.2	+	3	1175	c.982G>C	c.(982-984)GAG>CAG	p.E328Q		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	328					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					CTTCAATGCAGAGCCAACAGA	0.522	Ovarian(144;566 1842 19130 21379 22209)		NA											7	47					0	0	0.001984	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734719	173734719	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:173734719C>A	uc003isv.2	+	7	1504	c.768C>A	c.(766-768)ATC>ATA	p.I256I		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	256	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						ACAAAACCATCGTGTGTCCCA	0.443			NA											10	69					3.07112e-06	3.66449e-06	0.000978	1	0
ADAM29	11086	broad.mit.edu	37	4	175898086	175898086	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:175898086T>A	uc003iuc.2	+	5	2080	c.1410T>A	c.(1408-1410)GGT>GGA	p.G470G	ADAM29_uc003iud.2_Silent_p.G470G|ADAM29_uc010irr.2_Silent_p.G470G|ADAM29_uc011cki.1_Silent_p.G470G	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	470	Disintegrin.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGTGCAATGGTACTTCCCATA	0.458	Ovarian(140;1727 1835 21805 25838 41440)		NA											23	120					0	0	0.00278	0	0
SNX25	83891	broad.mit.edu	37	4	186231881	186231881	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:186231881G>C	uc003ixh.2	+	7	952	c.763G>C	c.(763-765)GAG>CAG	p.E255Q	SNX25_uc010ish.2_Missense_Mutation_p.E26Q	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	255					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAAGCAGTGTGAGAAGAGAAT	0.512			NA											9	51					0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1225638	1225638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:1225638G>T	uc003jby.1	+	1	169	c.46G>T	c.(46-48)GAT>TAT	p.D16Y		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	16	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACCTCGGGGATGAGAGGCC	0.642			NA											5	36					0.000157383	0.000180261	0.00308	1	0
PAPD7	11044	broad.mit.edu	37	5	6743935	6743935	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:6743935G>A	uc003jdx.1	+	6	606	c.477G>A	c.(475-477)ATG>ATA	p.M159I	PAPD7_uc011cmn.1_Missense_Mutation_p.M150I|PAPD7_uc010itl.1_5'Flank	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	159					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						TAATTTTAATGGCCATTAGCT	0.408	NSCLC(7;212 333 5667 23379 46547)		NA											31	104					0	0	0.003271	0	0
CTNND2	1501	broad.mit.edu	37	5	11159692	11159692	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:11159692G>A	uc003jfa.1	-	12	2300	c.2155C>T	c.(2155-2157)CTA>TTA	p.L719L	CTNND2_uc010itt.2_Silent_p.L628L|CTNND2_uc011cmy.1_Silent_p.L382L|CTNND2_uc011cmz.1_Silent_p.L286L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L286L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	719	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ACTGACCTTAGGCACCCGGTG	0.527			NA											22	89					0	0	0.002299	0	0
CDH18	1016	broad.mit.edu	37	5	19473721	19473721	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:19473721C>A	uc003jgc.2	-	12	2364	c.1987G>T	c.(1987-1989)GGC>TGC	p.G663C	CDH18_uc003jgd.2_Missense_Mutation_p.G663C|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	663	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTCTCCGCCTCCTTCATCA	0.498			NA											86	221					3.77845e-26	5.81397e-26	0.00361	1	0
CDH10	1008	broad.mit.edu	37	5	24491768	24491768	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:24491768C>A	uc003jgr.1	-	11	2125	c.1793G>T	c.(1792-1794)TGC>TTC	p.C598F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	598	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TTCAGCACTGCAGGATTGCAT	0.522			NA								HNSCC(23;0.051)			27	73					1.7367e-05	2.04028e-05	0.00632	1	0
RNASEN	29102	broad.mit.edu	37	5	31410943	31410943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:31410943C>A	uc003jhg.2	-	30	3936	c.3577G>T	c.(3577-3579)GAG>TAG	p.E1193*	RNASEN_uc003jhh.2_Nonsense_Mutation_p.E1156*|RNASEN_uc003jhi.2_Nonsense_Mutation_p.E1156*	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1193	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						ATGCCCAGCTCCTCCGCTACC	0.517			NA											26	160					1.85244e-09	2.43967e-09	0.00333	1	0
SPEF2	79925	broad.mit.edu	37	5	35670195	35670195	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:35670195G>A	uc003jjo.2	+	10	1501	c.1390G>A	c.(1390-1392)GAA>AAA	p.E464K	SPEF2_uc003jjn.1_Missense_Mutation_p.E464K|SPEF2_uc003jjq.3_Missense_Mutation_p.E464K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	464					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTGGAAGGAACTATTTTT	0.353			NA											22	206					0	0	0.00333	0	0
ITGA1	3672	broad.mit.edu	37	5	52183654	52183654	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:52183654G>T	uc003jou.2	+	8	833	c.781G>T	c.(781-783)GCA>TCA	p.A261S	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	261	Extracellular (Potential).|VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAGAAAGGAGGCATTCACGGA	0.398			NA											11	26					3.07112e-06	3.66449e-06	0.000978	1	0
ANKRD55	79722	broad.mit.edu	37	5	55396111	55396111	+	Missense_Mutation	SNP	G	G	A	rs143274111	by1000genomes	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:55396111G>A	uc003jqu.2	-	12	1896	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	ANKRD55_uc003jqt.2_Missense_Mutation_p.R294W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	581										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CGGTTTGTCCGCAGAGGTTCT	0.448			NA											22	127					0	0	0.00333	0	0
HTR1A	3350	broad.mit.edu	37	5	63256551	63256551	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:63256551C>G	uc011cqt.1	-	1	996	c.996G>C	c.(994-996)AAG>AAC	p.K332N		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	332	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATCTTGCGCTTCGCCTCGG	0.607			NA											26	104					0	0	0.003954	0	0
MAP1B	4131	broad.mit.edu	37	5	71493960	71493960	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:71493960C>T	uc003kbw.3	+	5	5019	c.4778C>T	c.(4777-4779)TCT>TTT	p.S1593F	MAP1B_uc010iyw.1_Missense_Mutation_p.S1610F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1467F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1467F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1593						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTTCAGTGTCTGTTGTGCAA	0.468	Melanoma(17;367 822 11631 31730 47712)		NA											21	106					0	0	0.00278	0	0
ACOT12	134526	broad.mit.edu	37	5	80631635	80631635	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:80631635C>T	uc003khl.3	-	12	1269	c.1214G>A	c.(1213-1215)CGT>CAT	p.R405H	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGACAAGAGACGATAAGCCAA	0.353			NA											12	88					0	0	0.001855	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834533	101834533	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:101834533C>A	uc003knn.2	-	1	188	c.16G>T	c.(16-18)GCC>TCC	p.A6S	SLCO6A1_uc003kno.2_Missense_Mutation_p.A6S|SLCO6A1_uc003knp.2_Missense_Mutation_p.A6S|SLCO6A1_uc003knq.2_Missense_Mutation_p.A6S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	6	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGTGCCGGGCGACGCCTACG	0.706			NA											29	117					8.16721e-17	1.19246e-16	0.002096	1	0
PAM	5066	broad.mit.edu	37	5	102326009	102326009	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:102326009G>C	uc003knw.2	+	15	1890	c.1517G>C	c.(1516-1518)GGA>GCA	p.G506A	PAM_uc003kns.2_Missense_Mutation_p.G399A|PAM_uc003knt.2_Missense_Mutation_p.G506A|PAM_uc003knu.2_Missense_Mutation_p.G506A|PAM_uc003knv.2_Missense_Mutation_p.G506A|PAM_uc011cuz.1_Missense_Mutation_p.G409A|PAM_uc003knx.1_Missense_Mutation_p.G109A	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	506	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 1.|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATTGGCCTGGAGTATACTTG	0.438			NA											11	47					0	0	0.001855	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783224	115783224	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:115783224G>A	uc010jck.2	-	19	2887	c.2178C>T	c.(2176-2178)CTC>CTT	p.L726L	SEMA6A_uc003krx.3_Silent_p.L743L|SEMA6A_uc011cwe.1_Silent_p.L105L|SEMA6A_uc003krv.3_Silent_p.L153L|SEMA6A_uc003krw.3_Silent_p.L203L|SEMA6A_uc010jcj.2_Silent_p.L270L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	726	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGTTGTGCATGAGTGGCGTGA	0.627			NA											5	250					0	0	0.000602	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815330	130815330	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130815330C>G	uc003kvn.1	-	16	2163	c.1957G>C	c.(1957-1959)GAA>CAA	p.E653Q	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E703Q|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E653Q|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E653Q|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E653Q|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E370Q|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E653Q|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E653Q	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	653					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATGTCTGTTCAATATCTCCT	0.358	Melanoma(168;435 1955 13113 13877 23213)		NA											27	115					0	0	0.007291	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130883763	130883763	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130883763C>T	uc003kvn.1	-	6	678	c.472G>A	c.(472-474)GTG>ATG	p.V158M	RAPGEF6_uc003kvp.1_Missense_Mutation_p.V208M|RAPGEF6_uc003kvo.1_Missense_Mutation_p.V158M|RAPGEF6_uc010jdi.1_Missense_Mutation_p.V158M|RAPGEF6_uc010jdj.1_Missense_Mutation_p.V158M|RAPGEF6_uc003kvr.2_Missense_Mutation_p.V158M|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.V158M	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	158					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTAACCTCCACATCATCAGTA	0.338	Melanoma(168;435 1955 13113 13877 23213)		NA											15	85					0	0	0.00499	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552718	140552718	+	Missense_Mutation	SNP	C	C	A	rs139238267		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140552718C>A	uc003lit.2	+	1	476	c.302C>A	c.(301-303)CCC>CAC	p.P101H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	101	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443			NA											28	105					3.1745e-13	4.423e-13	0.008361	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553224	140553224	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140553224G>A	uc003lit.2	+	1	982	c.808G>A	c.(808-810)GAT>AAT	p.D270N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	270	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGATTTAGATACCGGAAG	0.468			NA											20	65					0	0	0.010504	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750984	140750984	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140750984T>C	uc003ljw.1	+	1	1023	c.1023T>C	c.(1021-1023)AAT>AAC	p.N341N	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.N341N|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	341	Extracellular (Potential).|Cadherin 3.				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)			CAGATGAAAATGACAATGCCC	0.438			NA											14	60					0	0	0.001855	0	0
TCOF1	6949	broad.mit.edu	37	5	149758590	149758590	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:149758590G>C	uc003lry.2	+	15	2571	c.2463G>C	c.(2461-2463)CAG>CAC	p.Q821H	TCOF1_uc003lrw.2_Missense_Mutation_p.Q821H|TCOF1_uc011dch.1_Missense_Mutation_p.Q821H|TCOF1_uc003lrz.2_Missense_Mutation_p.Q821H|TCOF1_uc003lrx.2_Missense_Mutation_p.Q744H|TCOF1_uc003lsa.2_Missense_Mutation_p.Q744H|TCOF1_uc011dci.1_Missense_Mutation_p.Q310H	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	821					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGCAGAGGTCTCCAT	0.597			NA											10	74					0	0	0.008291	0	0
FAM71B	153745	broad.mit.edu	37	5	156590341	156590341	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156590341G>C	uc003lwn.2	-	2	1035	c.935C>G	c.(934-936)GCG>GGG	p.A312G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	312	Ala-rich.					nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCGCCAGCGCTGTGGTCAC	0.517			NA											29	132					0	0	0.008361	0	0
FAM71B	153745	broad.mit.edu	37	5	156592974	156592974	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156592974A>T	uc003lwn.2	-	1	306	c.206T>A	c.(205-207)ATG>AAG	p.M69K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	69						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGTCACCATTCGGACACG	0.468			NA											18	77					0	0	0.008871	0	0
ODZ2	57451	broad.mit.edu	37	5	167689648	167689648	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:167689648G>C	uc010jjd.2	+	29	8131	c.8131G>C	c.(8131-8133)GAG>CAG	p.E2711Q	ODZ2_uc003lzr.3_Missense_Mutation_p.E2481Q|ODZ2_uc003lzt.3_Missense_Mutation_p.E2084Q|ODZ2_uc010jje.2_Missense_Mutation_p.E1975Q	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGACGGGAGAGAGGGGAGCCG	0.657			NA											5	12					0	0	0.000602	0	0
HK3	3101	broad.mit.edu	37	5	176317681	176317681	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:176317681G>A	uc003mfa.2	-	6	677	c.585C>T	c.(583-585)GGC>GGT	p.G195G	HK3_uc003mez.2_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	195	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACATCCTGGCCTTCCACAC	0.612			NA											7	271					0	0	0.004482	0	0
PROP1	5626	broad.mit.edu	37	5	177419796	177419797	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:177419796_177419797GC>TT	uc003mif.1	-	3	903_904	c.594_595GC>AA	c.(592-597)TTGCAC>TTAAAC	p.H199N		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	199					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGGGCTGGGTGCAAGGTAGGGT	0.634			NA											5	25					0	0	0.004672	0	0
BPHL	670	broad.mit.edu	37	6	3127546	3127546	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:3127546G>T	uc003mva.2	+	3	331	c.282G>T	c.(280-282)TGG>TGT	p.W94C	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.W77C	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	94					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGGTCGCCTGGGATCCTCGAG	0.488			NA											17	96					1.15088e-07	1.45693e-07	0.004007	1	0
RIOK1	83732	broad.mit.edu	37	6	7395331	7395331	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:7395331C>G	uc003mxn.2	+	3	496	c.322C>G	c.(322-324)CCA>GCA	p.P108A	RIOK1_uc003mxm.1_Missense_Mutation_p.P4A	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	108							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					AATGTCTACTCCAGCAGACAA	0.393			NA											5	22					0	0	0.000602	0	0
ATXN1	6310	broad.mit.edu	37	6	16327410	16327410	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:16327410C>T	uc003nbt.2	-	8	2103	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	ATXN1_uc010jpi.2_Missense_Mutation_p.V378I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	378					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAGGCCCGGACCCCCGAAGGA	0.642			NA											35	165					0	0	0.003271	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043664	26043664	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:26043664G>A	uc003nfu.2	-	1	222	c.222C>T	c.(220-222)ATC>ATT	p.I74I	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	74					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCTCGCCCGCGATGCGCTCGA	0.592			NA											17	180					0	0	0.004007	0	0
OR2B6	26212	broad.mit.edu	37	6	27925441	27925441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:27925441C>A	uc011dkx.1	+	1	423	c.423C>A	c.(421-423)TGC>TGA	p.C141*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGAGACTCTGCCTCCAGTTGG	0.498			NA											30	171					7.26314e-15	1.02446e-14	0.007291	1	0
C6orf48	50854	broad.mit.edu	37	6	31805197	31805197	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31805197C>T	uc003rjx.1	+	4	605	c.92C>T	c.(91-93)TCT>TTT	p.S31F	C6orf48_uc003rjy.1_Missense_Mutation_p.S31F|C6orf48_uc003rjz.1_RNA	NM_001040437	NP_001035527	Q9UBA6	G8_HUMAN	G8 protein	31											0						CATGCCTGTTCTCCTTCCTTG	0.493			NA											17	148					0	0	0.010504	0	0
CFB	629	broad.mit.edu	37	6	31918140	31918140	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31918140C>T	uc003nyj.3	+	12	1862	c.1584C>T	c.(1582-1584)TTC>TTT	p.F528F	CFB_uc011dor.1_Silent_p.F1030F|CFB_uc003nyi.2_Silent_p.F528F	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	528	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CACATTGTTTCACTGTGGATG	0.537			NA											4	110					0	0	0.009096	0	0
ATF6B	1388	broad.mit.edu	37	6	32086644	32086644	+	Splice_Site	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:32086644C>T	uc003nzn.2	-	11	1186	c.1153_splice	c.e11-1	p.N385_splice	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Splice_Site_p.N382_splice|ATF6B_uc003nzp.1_Splice_Site_p.N74_splice	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTCGCTGTTCTAAGGTACAA	0.493			NA											9	72					0	0	0.004482	0	0
DAXX	1616	broad.mit.edu	37	6	33289672	33289672	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:33289672C>T	uc003oec.2	-	2	235	c.31G>A	c.(31-33)GAT>AAT	p.D11N	DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Missense_Mutation_p.D23N|DAXX_uc003oed.2_Missense_Mutation_p.D11N|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	11	Poly-Asp.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TCATCATCATCCAGCACGATG	0.612			NA	Mis|F|N		Pancreatic neuroendocrine tumors								24	83					0	0	0.00333	0	0
SPATS1	221409	broad.mit.edu	37	6	44336165	44336165	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:44336165A>G	uc003oxk.2	+	5	971	c.624A>G	c.(622-624)CCA>CCG	p.P208P	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Silent_p.P93P	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	208										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCGACAATCCATATATGTACC	0.393			NA											22	76					0	0	0.010504	0	0
GPR115	221393	broad.mit.edu	37	6	47681809	47681809	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:47681809C>A	uc003oza.1	+	6	1086	c.828C>A	c.(826-828)CCC>CCA	p.P276P	GPR115_uc003oyz.1_Silent_p.P333P|GPR115_uc003ozb.1_Silent_p.P274P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	276	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						TACAGATTCCCAGGCAAGAGC	0.453	GBM(22;431 510 9010 26644 32828)		NA											13	59					9.31168e-06	1.0996e-05	0.001855	1	0
BEND6	221336	broad.mit.edu	37	6	56857323	56857323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:56857323C>T	uc010kab.2	+	3	854	c.268C>T	c.(268-270)CGA>TGA	p.R90*	BEND6_uc003pdg.2_RNA	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	90	Potential.										0						AGAAAACAGCCGACTTCGACA	0.363			NA											33	210					0	0	0.003755	0	0
MTO1	25821	broad.mit.edu	37	6	74175962	74175962	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:74175962G>T	uc003pgy.3	+	2	372	c.248G>T	c.(247-249)GGC>GTC	p.G83V	MTO1_uc010kav.2_Missense_Mutation_p.G83V|MTO1_uc003pgz.3_Missense_Mutation_p.G83V|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Missense_Mutation_p.G9V|MTO1_uc003phc.1_Missense_Mutation_p.G9V	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	83					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						TCCTTTGGTGGCATCGGAAAG	0.388			NA											18	126					1.67942e-08	2.18659e-08	0.006122	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130378627	130378627	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:130378627G>A	uc003qbt.2	+	9	914	c.744G>A	c.(742-744)GCG>GCA	p.A248A	L3MBTL3_uc003qbu.2_Silent_p.A223A	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	248	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGTGCCGGCGAAGCTGTTCA	0.527			NA											8	19					0	0	0.00308	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599636	136599636	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:136599636C>T	uc003qgx.1	-	4	636	c.383G>A	c.(382-384)AGA>AAA	p.R128K	BCLAF1_uc003qgw.1_Missense_Mutation_p.R128K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R126K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R126K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	128					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCGGCGAGATCTGCTTCTGGA	0.463	Colon(142;1534 1789 5427 7063 28491)		NA											34	367					0	0	0.003755	0	0
GRM1	2911	broad.mit.edu	37	6	146480566	146480566	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:146480566C>A	uc010khw.1	+	3	1253	c.783C>A	c.(781-783)ATC>ATA	p.I261I	GRM1_uc010khu.1_Silent_p.I261I|GRM1_uc010khv.1_Silent_p.I261I|GRM1_uc003qll.2_Silent_p.I261I|GRM1_uc011edz.1_Silent_p.I261I|GRM1_uc011eea.1_Silent_p.I261I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	261	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGACAAAATCTACAGCAACG	0.532			NA											19	74					0.000958276	0.00106037	0.007413	1	0
PDE10A	10846	broad.mit.edu	37	6	165827131	165827131	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:165827131C>G	uc003qun.2	-	14	1347	c.1106G>C	c.(1105-1107)TGC>TCC	p.C369S	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.C299S|PDE10A_uc003quo.2_Missense_Mutation_p.C379S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	369	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATGGGCATGCACAGGATGTT	0.458	Esophageal Squamous(22;308 615 5753 12038 40624)		NA											7	33					0	0	0.001984	0	0
THBS2	7058	broad.mit.edu	37	6	169648870	169648870	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:169648870A>C	uc003qwt.2	-	4	499	c.251T>G	c.(250-252)TTC>TGC	p.F84C		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	84	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTGAGGAAGAAGCCCTCCTT	0.622	Esophageal Squamous(91;219 1934 18562 44706)		NA											12	51					0	0	0.001368	0	0
EIF3B	8662	broad.mit.edu	37	7	2409266	2409266	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:2409266G>A	uc003slx.2	+	10	1646	c.1563G>A	c.(1561-1563)AAG>AAA	p.K521K	EIF3B_uc003sly.2_Silent_p.K521K|EIF3B_uc003sma.2_Silent_p.K249K	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	521					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATTGGCAGAAGAACGGAGACT	0.502			NA											15	119					0	0	0.00499	0	0
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:11630169C>A	uc003ssf.3	-	4	1623	c.1371G>T	c.(1369-1371)GGG>GGT	p.G457G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552			NA								HNSCC(18;0.044)			8	35					3.09899e-07	3.85895e-07	0.004482	1	0
GHRHR	2692	broad.mit.edu	37	7	31008552	31008552	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:31008552G>T	uc003tbx.2	+	2	208	c.160_splice	c.e2+1	p.G54_splice	GHRHR_uc003tbw.1_Splice_Site_p.G54_splice|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	ACCACCCTGGGTATGGGGCCT	0.567			NA											8	35					1.06961e-07	1.3654e-07	0.00308	1	0
TBX20	57057	broad.mit.edu	37	7	35293192	35293192	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:35293192G>A	uc011kas.1	-	1	51	c.40C>T	c.(40-42)CGG>TGG	p.R14W		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	14						nucleus	DNA binding			central_nervous_system(1)	1						GCGTTGGCCCGAGAGGAGAGT	0.642			NA											10	44					0	0	0.001368	0	0
COBL	23242	broad.mit.edu	37	7	51096436	51096436	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:51096436C>A	uc003tpr.3	-	10	2542	c.2357G>T	c.(2356-2358)AGC>ATC	p.S786I	COBL_uc003tps.2_Missense_Mutation_p.S843I|COBL_uc011kcl.1_Missense_Mutation_p.S786I|COBL_uc003tpp.3_Missense_Mutation_p.S572I|COBL_uc003tpq.3_Missense_Mutation_p.S727I|COBL_uc003tpo.3_Missense_Mutation_p.S328I	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	786										skin(3)|ovary(2)	5	Glioma(55;0.08)					CCTGGCAGAGCTCTCTGAGGG	0.587	NSCLC(189;2119 2138 12223 30818 34679)		NA											9	66					0.000442599	0.000496973	0.006214	1	0
ASL	435	broad.mit.edu	37	7	65552720	65552720	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:65552720C>G	uc003tuo.2	+	10	771	c.660C>G	c.(658-660)CTC>CTG	p.L220L	ASL_uc003tup.2_Silent_p.L220L|ASL_uc003tur.2_Silent_p.L194L|ASL_uc003tuq.2_Silent_p.L220L	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	220					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	CCCCAGAACTCAACTTTGGGG	0.627			NA											3	30					0	0	0.004672	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880974	70880974	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:70880974G>T	uc003tvy.2	+	4	689	c.689G>T	c.(688-690)CGC>CTC	p.R230L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	230	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCGCGCTCGCATTGAGGGC	0.582			NA											6	47					0.00116845	0.00128053	0.001168	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73935550	73935550	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:73935550C>G	uc003uaq.2	+	7	1322	c.929C>G	c.(928-930)ACT>AGT	p.T310S	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T342S|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T310S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T310S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	310						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CAGAAGCCCACTGGGCCTGGT	0.607			NA											11	56					0	0	0.008291	0	0
NCF1	653361	broad.mit.edu	37	7	74193606	74193606	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:74193606C>A	uc003ubb.2	+	4	303	c.233C>A	c.(232-234)CCC>CAC	p.P78H	NCF1_uc010lbs.1_Missense_Mutation_p.P78H|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	78	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						GTGCCAGCTCCCAAGTGGTTT	0.672			NA											12	70					6.31663e-08	8.1087e-08	0.003163	1	0
MEPCE	56257	broad.mit.edu	37	7	100028300	100028300	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:100028300C>T	uc003uuw.2	+	1	772	c.659C>T	c.(658-660)CCG>CTG	p.P220L	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	220							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCCTTCCGGCCAAAGGG	0.547			NA											28	124					0	0	0.005443	0	0
RELN	5649	broad.mit.edu	37	7	103202032	103202032	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103202032C>A	uc003vca.2	-	36	5636	c.5476G>T	c.(5476-5478)GGG>TGG	p.G1826W	RELN_uc010liz.2_Missense_Mutation_p.G1826W	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1826					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)		TTCAGATTCCCCCTCTCTGCA	0.408	NSCLC(146;835 1944 15585 22231 52158)		NA											13	92					0.000151284	0.00017503	0.001855	1	0
DOCK4	9732	broad.mit.edu	37	7	111555894	111555894	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:111555894C>G	uc003vfx.2	-	13	1401	c.1132G>C	c.(1132-1134)GTA>CTA	p.V378L	DOCK4_uc003vfy.2_Missense_Mutation_p.V378L|DOCK4_uc003vga.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	378					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGAGAAAATACTGATGAATAT	0.383			NA											4	29					0	0	0.009096	0	0
SND1	27044	broad.mit.edu	37	7	127729612	127729612	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:127729612G>T	uc003vmi.2	+	22	2716	c.2490G>T	c.(2488-2490)GTG>GTT	p.V830V	SND1_uc010lle.2_Silent_p.V483V	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	830					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TGCTCAACGTGGAACACCTGA	0.607			NA											15	51					3.45872e-05	4.04254e-05	0.004007	1	0
TMEM209	84928	broad.mit.edu	37	7	129825206	129825206	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:129825206C>G	uc003vpn.2	-	7	900	c.777G>C	c.(775-777)GGG>GGC	p.G259G	TMEM209_uc010lmc.1_Silent_p.G259G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	259						integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					AATCTGGGCTCCCTACAATTG	0.398			NA											30	118					0	0	0.002096	0	0
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:143826661C>T	uc011kua.1	+	1	456	c.456C>T	c.(454-456)TTC>TTT	p.F152F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532			NA											39	309					0	0	0.00623	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997306	146997306	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:146997306C>G	uc003weu.1	+	9	1938	c.1422C>G	c.(1420-1422)ATC>ATG	p.I474M		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	474	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCTCACCATCGATGGAGATG	0.418			NA								HNSCC(39;0.1)			18	76					0	0	0.006122	0	0
PDIA4	9601	broad.mit.edu	37	7	148702338	148702338	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:148702338C>A	uc003wff.2	-	9	1699	c.1417G>T	c.(1417-1419)GAT>TAT	p.D473Y		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	473					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCATTGACATCCTCCCCACTC	0.572			NA									OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	124					0.000586117	0.000656508	0.003954	1	0
RP1L1	94137	broad.mit.edu	37	8	10468217	10468217	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:10468217C>T	uc003wtc.2	-	4	3620	c.3391G>A	c.(3391-3393)GAC>AAC	p.D1131N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1131					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GACCCAAGGTCTTCCTCAAAT	0.592			NA											20	92					0	0	0.007413	0	0
TUSC3	7991	broad.mit.edu	37	8	15398024	15398024	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:15398024C>T	uc003wwt.2	+	1	295	c.85C>T	c.(85-87)CTC>TTC	p.L29F	TUSC3_uc003wwr.2_Missense_Mutation_p.L29F|TUSC3_uc003wws.2_Missense_Mutation_p.L29F|TUSC3_uc003wwu.2_Missense_Mutation_p.L29F|TUSC3_uc003wwv.2_Missense_Mutation_p.L29F|TUSC3_uc003www.2_Missense_Mutation_p.L29F|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.L29F	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	29	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TCCCTTCCTTCTCCTGCTGCT	0.687			NA											6	32					0	0	0.001168	0	0
XPO7	23039	broad.mit.edu	37	8	21833878	21833878	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:21833878G>A	uc003xaa.3	+	7	711	c.609G>A	c.(607-609)AAG>AAA	p.K203K	XPO7_uc010lti.2_Silent_p.K212K|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Silent_p.K204K	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	203					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTTCAGGAAAGAATCTAAACT	0.433			NA											42	238					0	0	0.00361	0	0
ADAM32	203102	broad.mit.edu	37	8	39068732	39068732	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:39068732G>T	uc003xmt.3	+	12	1367	c.1122G>T	c.(1120-1122)GTG>GTT	p.V374V	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	374	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTCAAATGTGGGTGTCAAAT	0.383			NA											8	55					0.00307968	0.00330379	0.00308	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767112G>A	uc003yav.2	+	10	8207	c.7820G>A	c.(7819-7821)TGG>TAG	p.W2607*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.W2652*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.W2607*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2607	Homeobox 3.					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)			GTGCAAGTCTGGTTCCAGAAT	0.498			NA								HNSCC(33;0.089)			20	102					0	0	0.00278	0	0
FBXO43	286151	broad.mit.edu	37	8	101154184	101154184	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:101154184C>G	uc003yjd.2	-	2	1011	c.298G>C	c.(298-300)GGC>CGC	p.G100R	FBXO43_uc003yje.2_Missense_Mutation_p.G66R|FBXO43_uc010mbp.1_Missense_Mutation_p.G100R	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	100					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATGTTGGGCCTTTTTCTTTC	0.348			NA											14	79					0	0	0.00245	0	0
CSMD3	114788	broad.mit.edu	37	8	113349928	113349928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113349928G>C	uc003ynu.2	-	43	6844	c.6685C>G	c.(6685-6687)CCG>GCG	p.P2229A	CSMD3_uc003yns.2_Missense_Mutation_p.P1431A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2189A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2125A|CSMD3_uc003ynw.1_5'UTR	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2229	Extracellular (Potential).|Sushi 12.					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						TTTCGAAACGGGCGTGGATCA	0.388			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	93					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113702264	113702264	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702264C>A	uc003ynu.2	-	14	2147	c.1988G>T	c.(1987-1989)AGT>ATT	p.S663I	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.S623I|CSMD3_uc011lhx.1_Missense_Mutation_p.S559I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	663	Extracellular (Potential).|Sushi 3.					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						ATCACCACAACTTTCTTTCTC	0.363			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	200					9.85913e-13	1.36122e-12	0.009718	1	0
CSMD3	114788	broad.mit.edu	37	8	113702266	113702266	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702266T>A	uc003ynu.2	-	14	2145	c.1986A>T	c.(1984-1986)GAA>GAT	p.E662D	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.E622D|CSMD3_uc011lhx.1_Missense_Mutation_p.E558D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	662	Extracellular (Potential).|Sushi 3.					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						CACCACAACTTTCTTTCTCAA	0.368			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	195					0	0	0.00623	0	0
FER1L6	654463	broad.mit.edu	37	8	125107185	125107185	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:125107185C>A	uc003yqw.2	+	35	4807	c.4601C>A	c.(4600-4602)TCT>TAT	p.S1534Y	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1534	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTTTACACTCTTGGGAGGAT	0.498			NA											35	68					2.87052e-16	4.15135e-16	0.005524	1	0
PLEC	5339	broad.mit.edu	37	8	145049532	145049532	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:145049532C>A	uc003zaj.2	-	2	55	c.6G>T	c.(4-6)TCG>TCT	p.S2S	PLEC_uc003zah.2_5'Flank	NM_000445	NP_000436	Q15149	PLEC_HUMAN	plectin isoform 1c	Error:Variant_position_missing_in_Q15149_after_alignment					cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTCCTCACCCGACATGGCCT	0.607			NA									OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	32					5.9392e-07	7.29628e-07	0.001168	1	0
JAK2	3717	broad.mit.edu	37	9	5126726	5126726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5126726C>T	uc010mhm.2	+	24	3447	c.3334C>T	c.(3334-3336)CAA>TAA	p.Q1112*	JAK2_uc003ziw.2_Nonsense_Mutation_p.Q1112*	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	1112	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TAATGTAAATCAACGCCCCTC	0.368			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				10	49					0	0	0.008291	0	0
ERMP1	79956	broad.mit.edu	37	9	5805687	5805687	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5805687C>T	uc003zjm.1	-	9	1701	c.1647G>A	c.(1645-1647)TCG>TCA	p.S549S	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Silent_p.S163S	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	549	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TAATAAACGCCGAGCAAAGTC	0.428			NA											5	44					0	0	0.000602	0	0
DENND4C	55667	broad.mit.edu	37	9	19324446	19324446	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:19324446T>C	uc003znq.2	+	9	1219	c.1186T>C	c.(1186-1188)TGC>CGC	p.C396R	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	396	dDENN.					integral to membrane				ovary(1)|skin(1)	2						CATTGAAGAATGCAGTTTTGT	0.294			NA											5	166					0	0	0.000602	0	0
IFNA21	3452	broad.mit.edu	37	9	21166475	21166475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:21166475C>A	uc003zom.2	-	1	185	c.137G>T	c.(136-138)AGA>ATA	p.R46I		NM_002175	NP_002166	P01568	IFN21_HUMAN	interferon, alpha 21 precursor	46					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGAGAGATTCTTCCCATTTG	0.522			NA											33	151					1.32136e-16	1.92312e-16	0.00874	1	0
GCNT1	2650	broad.mit.edu	37	9	79117887	79117887	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:79117887T>C	uc010mpf.2	+	3	931	c.590T>C	c.(589-591)CTC>CCC	p.L197P	GCNT1_uc010mpg.2_Missense_Mutation_p.L197P|GCNT1_uc010mph.2_Missense_Mutation_p.L197P|GCNT1_uc004akf.3_Missense_Mutation_p.L197P|GCNT1_uc010mpi.2_Missense_Mutation_p.L197P|GCNT1_uc004akh.3_Missense_Mutation_p.L197P	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	197	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						CAGGCTGACCTCAACTGCATG	0.453			NA											3	91					0	0	0.004672	0	0
SYK	6850	broad.mit.edu	37	9	93629456	93629456	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:93629456C>G	uc004aqz.2	+	7	1095	c.890C>G	c.(889-891)TCC>TGC	p.S297C	SYK_uc004aqy.2_Missense_Mutation_p.S297C|SYK_uc004ara.2_Intron|SYK_uc004arb.2_Intron|SYK_uc004arc.2_Missense_Mutation_p.S297C|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	297	Linker.			S->A: Abolishes YWHAG/1433-gamma binding.	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						AAATCATACTCCTTCCCAAAG	0.493			NA	T	ETV6|ITK	MDS|peripheral T-cell lymphoma								18	114					0	0	0.007413	0	0
PHF2	5253	broad.mit.edu	37	9	96427980	96427980	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:96427980C>G	uc004aub.2	+	15	2097	c.1950C>G	c.(1948-1950)CTC>CTG	p.L650L	PHF2_uc011lug.1_Silent_p.L533L|PHF2_uc004auc.2_Silent_p.L69L	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	650					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAAGGCTCTCAGGCCCCCGA	0.637			NA											10	53					0	0	0.008291	0	0
TEX10	54881	broad.mit.edu	37	9	103109394	103109394	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:103109394C>A	uc004bas.2	-	3	690	c.475G>T	c.(475-477)GAC>TAC	p.D159Y	TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162Y|TEX10_uc011lvh.1_Missense_Mutation_p.D94Y|TEX10_uc004bat.2_Missense_Mutation_p.D159Y	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	159						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTAAAGAGTCCTCCTGAATT	0.408			NA											16	91					1.3612e-06	1.65005e-06	0.003163	1	0
IKBKAP	8518	broad.mit.edu	37	9	111670594	111670594	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:111670594T>A	uc004bdm.3	-	13	1971	c.1451A>T	c.(1450-1452)AAG>ATG	p.K484M	IKBKAP_uc004bdl.2_Missense_Mutation_p.K135M|IKBKAP_uc011lwc.1_Missense_Mutation_p.K370M|IKBKAP_uc010mtq.2_Missense_Mutation_p.K135M	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	484					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						CTTGTATCTCTTTTCCAAATG	0.433			NA											10	27					0	0	0.000978	0	0
PTPN3	5774	broad.mit.edu	37	9	112168882	112168882	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:112168882G>C	uc004bed.2	-	18	1764	c.1652C>G	c.(1651-1653)CCT>CGT	p.P551R	PTPN3_uc004beb.2_Missense_Mutation_p.P420R|PTPN3_uc004bec.2_Missense_Mutation_p.P375R|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.P506R|PTPN3_uc011lwh.1_Missense_Mutation_p.P397R|PTPN3_uc011lwd.1_Missense_Mutation_p.P19R|PTPN3_uc011lwe.1_Missense_Mutation_p.P264R|PTPN3_uc011lwf.1_Missense_Mutation_p.P219R	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	551	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GTTCAGCTTAGGAATGCAGGT	0.537			NA											24	108					0	0	0.00333	0	0
DFNB31	25861	broad.mit.edu	37	9	117241034	117241034	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:117241034C>T	uc004biz.3	-	2	1285	c.636G>A	c.(634-636)AAG>AAA	p.K212K	DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Silent_p.K212K|DFNB31_uc004bjb.2_Silent_p.K212K	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	212	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GCACCAGCTTCTTGGAGCCCT	0.627			NA											10	16					0	0	0.000978	0	0
DBC1	1620	broad.mit.edu	37	9	122000939	122000939	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:122000939G>T	uc004bkc.2	-	5	1135	c.679C>A	c.(679-681)CTT>ATT	p.L227I	DBC1_uc004bkd.2_Missense_Mutation_p.L227I	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	227	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CTACCTTGAAGGTGCAGTTTG	0.537			NA											4	29					0.00024832	0.000281594	0.009096	1	0
ZNF79	7633	broad.mit.edu	37	9	130207042	130207042	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:130207042C>T	uc004bqw.3	+	5	1477	c.1063C>T	c.(1063-1065)CAC>TAC	p.H355Y	ZNF79_uc011maf.1_Missense_Mutation_p.H331Y|ZNF79_uc011mag.1_Missense_Mutation_p.H331Y	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCAGAGGATTCACACCGGGGA	0.572			NA											19	87					0	0	0.006122	0	0
GPSM1	26086	broad.mit.edu	37	9	139228961	139228961	+	Silent	SNP	C	C	T	rs138071426		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:139228961C>T	uc004chd.2	+	2	346	c.126C>T	c.(124-126)GGC>GGT	p.G42G	GPSM1_uc004chc.2_Silent_p.G42G	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	42	TPR 1.|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCAAGGCGGGCGACTTCAAGA	0.632			NA											4	12					0	0	0.009096	0	0
SLC34A3	142680	broad.mit.edu	37	9	140128971	140128971	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:140128971C>T	uc004cmf.1	+	11	1383	c.1197C>T	c.(1195-1197)GTC>GTT	p.V399V	SLC34A3_uc011met.1_Silent_p.V399V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	399	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCGGCCGTCGTGCCCCTCA	0.721			NA											23	37					0	0	0.002299	0	0
SFRS17A	8227	broad.mit.edu	37	X	1712956	1712956	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:1712956G>A	uc004cqa.2	+	2	797	c.601G>A	c.(601-603)GGC>AGC	p.G201S	SFRS17A_uc010ncx.1_Missense_Mutation_p.G201S|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	201	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGATGACGGGCCGCAACTT	0.597			NA											24	153					0	0	0.005443	0	0
FAM9A	171482	broad.mit.edu	37	X	8764317	8764317	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:8764317T>C	uc004csg.2	-	6	591	c.480A>G	c.(478-480)CAA>CAG	p.Q160Q		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleolus					0		Hepatocellular(5;0.219)				ACCTTTTTAGTTGTTTTTTTT	0.289			NA											4	27					0	0	0.009096	0	0
SHROOM2	357	broad.mit.edu	37	X	9862757	9862757	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:9862757C>A	uc004csu.1	+	4	899	c.809C>A	c.(808-810)CCC>CAC	p.P270H		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	270					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				TGTTTCCCGCCCAGGGTCCCC	0.672			NA											6	30					0.00116845	0.00128053	0.001168	1	0
TLR8	51311	broad.mit.edu	37	X	12940138	12940138	+	Silent	SNP	G	G	A	rs148097000		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:12940138G>A	uc004cve.2	+	2	3047	c.2979G>A	c.(2977-2979)CGG>CGA	p.R993R	TLR8_uc004cvd.2_Silent_p.R1011R	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	993	Cytoplasmic (Potential).|TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TGAGGCTACGGCAGCGGATCT	0.463			NA											4	153					0	0	0.009096	0	0
SYAP1	94056	broad.mit.edu	37	X	16778405	16778405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:16778405G>T	uc004cxp.2	+	9	1075	c.982G>T	c.(982-984)GAA>TAA	p.E328*	SYAP1_uc004cxo.2_Nonstop_Mutation_p.*327L|SYAP1_uc011miv.1_Nonsense_Mutation_p.E294*	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	328										skin(1)	1	Hepatocellular(33;0.0997)					TCAAGAATATGAAGTGGTGAC	0.348			NA											31	190					8.58068e-18	1.26089e-17	0.007291	1	0
CNKSR2	22866	broad.mit.edu	37	X	21609204	21609204	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:21609204G>T	uc004czx.1	+	15	1758	c.1722G>T	c.(1720-1722)GAG>GAT	p.E574D	CNKSR2_uc004czw.2_Missense_Mutation_p.E574D|CNKSR2_uc011mjn.1_Missense_Mutation_p.E525D|CNKSR2_uc011mjo.1_Missense_Mutation_p.E544D|CNKSR2_uc004czy.2_Missense_Mutation_p.E166D	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	574	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						GTGACTGTGAGGGCTGGCTTT	0.393			NA											42	183					1.47244e-24	2.23557e-24	0.00623	1	0
FTHL17	53940	broad.mit.edu	37	X	31089831	31089831	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:31089831G>C	uc004dcl.1	-	1	343	c.240C>G	c.(238-240)CAC>CAG	p.H80Q		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	80	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0						GAAGGCAGATGTGGCCACCGC	0.597			NA											16	81					0	0	0.004007	0	0
CYBB	1536	broad.mit.edu	37	X	37639333	37639333	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37639333G>T	uc004ddr.2	+	1	64	c.3G>T	c.(1-3)ATG>ATT	p.M1I	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.M1I	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	1					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CTGCCACCATGGGGAACTGGG	0.433			NA											6	41					0.00116845	0.00128053	0.001168	1	0
SYTL5	94122	broad.mit.edu	37	X	37985950	37985950	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37985950G>T	uc004ddu.2	+	18	2694	c.2160G>T	c.(2158-2160)ATG>ATT	p.M720I	SYTL5_uc004ddv.2_Missense_Mutation_p.M720I|SYTL5_uc004ddx.2_Missense_Mutation_p.M742I	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	720					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						GTGTACTCATGCTTCGTTCCA	0.512			NA											7	25					0.00198382	0.00215858	0.001984	1	0
RP2	6102	broad.mit.edu	37	X	46719490	46719490	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:46719490G>C	uc004dgw.3	+	3	1025	c.836G>C	c.(835-837)AGG>ACG	p.R279T		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	279					cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0						GATGCTCAAAGGGTTTTTCGG	0.368			NA											4	71					0	0	0.001168	0	0
PORCN	64840	broad.mit.edu	37	X	48372655	48372656	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48372655_48372656CT>AA	uc010nie.1	+	9	905_906	c.747_748CT>AA	c.(745-750)GTCTCC>GTAACC	p.S250T	PORCN_uc004djr.1_Missense_Mutation_p.S245T|PORCN_uc004djs.1_Missense_Mutation_p.S239T|PORCN_uc004djt.1_Missense_Mutation_p.S168T|PORCN_uc011mlx.1_Missense_Mutation_p.S168T|PORCN_uc004dju.1_Missense_Mutation_p.S108T|PORCN_uc004djv.1_Missense_Mutation_p.S250T|PORCN_uc004djw.1_Missense_Mutation_p.S244T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	250	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						AGAGTGCTGTCTCCTTCCACTT	0.579			NA											19	109					0	0	0.004672	0	0
SUV39H1	6839	broad.mit.edu	37	X	48558965	48558965	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48558965C>A	uc004dkn.2	+	3	694	c.649C>A	c.(649-651)CTG>ATG	p.L217M	SUV39H1_uc011mmf.1_Missense_Mutation_p.L228M|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	217	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						TCGAGCCGGGCTGCCCATCTA	0.622			NA											8	45					3.09899e-07	3.85895e-07	0.004482	1	0
TFE3	7030	broad.mit.edu	37	X	48896717	48896717	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48896717G>A	uc004dmb.3	-	3	687	c.449C>T	c.(448-450)CCT>CTT	p.P150L	TFE3_uc004dmc.3_Missense_Mutation_p.P45L|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	150					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						AGAGATGGCAGGAGAGGCAGG	0.672			NA	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								5	29					0	0	0.000602	0	0
CACNA1F	778	broad.mit.edu	37	X	49079432	49079432	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:49079432T>A	uc004dnb.2	-	15	2136	c.2074A>T	c.(2074-2076)AGC>TGC	p.S692C	CACNA1F_uc010nip.2_Missense_Mutation_p.S681C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	692	Extracellular (Potential).|II.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TCAAAGGTGCTTCGCTTGGTG	0.562			NA											4	11					0	0	0.009096	0	0
PJA1	64219	broad.mit.edu	37	X	68382067	68382067	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:68382067G>A	uc004dxh.2	-	2	1301	c.1015C>T	c.(1015-1017)CCG>TCG	p.P339S	PJA1_uc011mpi.1_Missense_Mutation_p.P57S|PJA1_uc004dxg.2_Missense_Mutation_p.P151S|PJA1_uc004dxi.2_Missense_Mutation_p.P284S	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	339							zinc ion binding				0						CGTCGTCTCGGCACCTTTTCT	0.522			NA											5	43					0	0	0.000602	0	0
KIF4A	24137	broad.mit.edu	37	X	69516870	69516870	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69516870C>A	uc004dyg.2	+	4	385	c.258C>A	c.(256-258)GCC>GCA	p.A86A	KIF4A_uc010nkw.2_Silent_p.A86A|KIF4A_uc004dyf.1_Silent_p.A86A	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	86	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						CGGTCCTGGCCTATGGGCAGA	0.413			NA											19	112					1.96292e-10	2.61532e-10	0.010504	1	0
TEX11	56159	broad.mit.edu	37	X	69898725	69898725	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69898725T>A	uc004dyl.2	-	16	1378	c.1216A>T	c.(1216-1218)AGA>TGA	p.R406*	TEX11_uc004dyk.2_Nonsense_Mutation_p.R81*|TEX11_uc004dym.2_Nonsense_Mutation_p.R391*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	406							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					GTCAGTTGTCTTCCTGTTTGG	0.289			NA											4	33					0	0	0.000602	0	0
TBX22	50945	broad.mit.edu	37	X	79286509	79286509	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79286509G>T	uc010nmg.1	+	9	1596	c.1462G>T	c.(1462-1464)GGT>TGT	p.G488C	TBX22_uc004edi.1_Missense_Mutation_p.G368C|TBX22_uc004edj.1_Missense_Mutation_p.G488C	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	488					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						ACTGATAAGTGGTTCCAACCA	0.383			NA											15	58					0.000308642	0.00034827	0.003163	1	0
BRWD3	254065	broad.mit.edu	37	X	79937526	79937526	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79937526C>A	uc004edt.2	-	39	4728	c.4465G>T	c.(4465-4467)GCC>TCC	p.A1489S	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.A1085S|BRWD3_uc004edp.2_Missense_Mutation_p.A1318S|BRWD3_uc004edq.2_Missense_Mutation_p.A1085S|BRWD3_uc010nmj.1_Missense_Mutation_p.A1085S|BRWD3_uc004edr.2_Missense_Mutation_p.A1159S|BRWD3_uc004eds.2_Missense_Mutation_p.A1085S|BRWD3_uc004edu.2_Missense_Mutation_p.A1159S|BRWD3_uc004edv.2_Missense_Mutation_p.A1085S|BRWD3_uc004edw.2_Missense_Mutation_p.A1085S|BRWD3_uc004edx.2_Missense_Mutation_p.A1085S|BRWD3_uc004edy.2_Missense_Mutation_p.A1085S|BRWD3_uc004edz.2_Missense_Mutation_p.A1159S|BRWD3_uc004eea.2_Missense_Mutation_p.A1159S|BRWD3_uc004eeb.2_Missense_Mutation_p.A1085S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1489										ovary(4)	4						CTAGTCCTGGCATGAGATACT	0.353			NA											21	91					2.39556e-15	3.42117e-15	0.00278	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131800	91131800	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:91131800C>T	uc004efk.1	+	2	1406	c.561C>T	c.(559-561)CTC>CTT	p.L187L	PCDH11X_uc004efl.1_Silent_p.L187L|PCDH11X_uc004efo.1_Silent_p.L187L|PCDH11X_uc010nmv.1_Silent_p.L187L|PCDH11X_uc004efm.1_Silent_p.L187L|PCDH11X_uc004efn.1_Silent_p.L187L|PCDH11X_uc004efh.1_Silent_p.L187L|PCDH11X_uc004efj.1_Silent_p.L187L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	187	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TTTTTGGCCTCGATGTCATTG	0.299	NSCLC(38;925 1092 2571 38200 45895)		NA											10	63					0	0	0.001855	0	0
RPA4	29935	broad.mit.edu	37	X	96139496	96139496	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:96139496G>A	uc004efv.3	+	1	485	c.187G>A	c.(187-189)GTG>ATG	p.V63M	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	63					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						GTTTGACCCTGTGTTCAAGGT	0.453			NA						Other_identified_genes_with_known_or_suspected_DNA_repair_function					15	74					0	0	0.004007	0	0
SRPX2	27286	broad.mit.edu	37	X	99921880	99921880	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:99921880G>A	uc004egb.2	+	8	1391	c.911G>A	c.(910-912)CGG>CAG	p.R304Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	304	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						ACACCCTCCCGGGTCTGTCAG	0.597			NA											11	39					0	0	0.008291	0	0
NRK	203447	broad.mit.edu	37	X	105152952	105152952	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:105152952A>C	uc004emd.2	+	13	1622	c.1319A>C	c.(1318-1320)CAA>CCA	p.Q440P	NRK_uc010npc.1_Missense_Mutation_p.Q108P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	440	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAACGACTACAAGGGGCAGCT	0.562			NA								HNSCC(51;0.14)			6	27					0	0	0.001168	0	0
GPC4	2239	broad.mit.edu	37	X	132437228	132437228	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:132437228T>A	uc004exc.1	-	8	1646	c.1434A>T	c.(1432-1434)GCA>GCT	p.A478A	GPC4_uc011mvg.1_Silent_p.A408A	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	478					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					TCCCATTGTATGCATTCTTCA	0.438			NA											26	106					0	0	0.00632	0	0
MCF2	4168	broad.mit.edu	37	X	138728982	138728982	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:138728982C>A	uc011mwn.1	-	3	367	c.361G>T	c.(361-363)GCA>TCA	p.A121S	MCF2_uc004faw.2_Missense_Mutation_p.A36S|MCF2_uc011mwo.1_Missense_Mutation_p.A36S			P10911	MCF2_HUMAN	SubName: Full=MCF.2 cell line derived transforming sequence;	Error:Variant_position_missing_in_P10911_after_alignment					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AGTACTTTTGCTATTACTTCC	0.328			NA											5	18					0.000602214	0.000669616	0.000602	1	0
PASD1	139135	broad.mit.edu	37	X	150780226	150780226	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:150780226G>T	uc004fev.3	+	4	539	c.207_splice	c.e4+1	p.P69_splice		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1							nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACATTTACCAGTAAGTTCTTT	0.299			NA											16	80					3.52763e-06	4.19825e-06	0.00499	1	0
MAGEA6	4105	broad.mit.edu	37	X	151870189	151870189	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:151870189C>T	uc004ffq.1	+	3	1073	c.879C>T	c.(877-879)ATC>ATT	p.I293I	MAGEA6_uc004ffr.1_Silent_p.I293I|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	293	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTAAAGATCAGTGGAGGAC	0.557			NA											57	200					0	0	0.00361	0	0
ZNF275	10838	broad.mit.edu	37	X	152613093	152613093	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:152613093G>A	uc004fhg.1	+	4	1127	c.950G>A	c.(949-951)GGC>GAC	p.G317D	ZNF275_uc011mym.1_Missense_Mutation_p.G317D|ZNF275_uc011myn.1_Missense_Mutation_p.G254D			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	317						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCCACACGGGCGAGAAGCCC	0.682			NA											3	9					0	0	0.004672	0	0
MPP1	4354	broad.mit.edu	37	X	154018236	154018236	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:154018236G>A	uc004fmp.1	-	5	588	c.473C>T	c.(472-474)GCA>GTA	p.A158V	MPP1_uc010nvg.1_Missense_Mutation_p.A158V|MPP1_uc011mzv.1_Missense_Mutation_p.A128V|MPP1_uc004fmq.1_Missense_Mutation_p.A112V|MPP1_uc011mzw.1_Missense_Mutation_p.A141V|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	158	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTGTAGTGCAGGAAGACG	0.378			NA											8	30					0	0	0.004482	0	0
F13B	2165	broad.mit.edu	37	1	197021794	197021794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021794delC	uc001gtt.1	-	9	1569	c.1525delG	c.(1525-1527)GAAfs	p.E509fs		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	509	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TATTTCACTTCTCCTCTGTTG	0.328			NA											15	70	---	---	---	---	NA	NA	NA	NA	NA
USH2A	7399	broad.mit.edu	37	1	216496818	216496818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216496818delC	uc001hku.1	-	8	1935	c.1548delG	c.(1546-1548)GGGfs	p.G516fs	USH2A_uc001hkv.2_Frame_Shift_Del_p.G516fs	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	516	Laminin N-terminal.|Extracellular (Potential).		G -> V (in USH2A; uncertain pathogenicity).		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)		AATAATACCTCCCACTAATGG	0.368			NA								HNSCC(13;0.011)			11	85	---	---	---	---	NA	NA	NA	NA	NA
OR5F1	338674	broad.mit.edu	37	11	55761175	55761176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55761175_55761176insA	uc010riv.1	-	1	926_927	c.926_927insT	c.(925-927)AGGfs	p.R309fs		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AGGAAGAGGTCCTTTTCCTGCT	0.351			NA											8	45	---	---	---	---	NA	NA	NA	NA	NA
OR5B17	219965	broad.mit.edu	37	11	58126125	58126126	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:58126125_58126126delCA	uc010rke.1	-	1	417_418	c.417_418delTG	c.(415-420)TGTGCTfs	p.C139fs		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	139_140	Helical; Name=4; (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)				GCCAGACAAGCACACACACGTG	0.45			NA											22	85	---	---	---	---	NA	NA	NA	NA	NA
SRRM2	23524	broad.mit.edu	37	16	2815544	2815544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815544delC	uc002crk.2	+	11	5564	c.5015delC	c.(5014-5016)TCCfs	p.S1672fs	SRRM2_uc002crj.1_Frame_Shift_Del_p.S1576fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.S1672fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.S1576fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1672	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGCAGAGGTTCCAGGTCATCA	0.567			NA											15	45	---	---	---	---	NA	NA	NA	NA	NA
OR7C1	26664	broad.mit.edu	37	19	14910638	14910638	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:14910638delA	uc010xnz.1	-	1	311	c.311delT	c.(310-312)TTCfs	p.F104fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	104	Helical; Name=3; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AAATGAAGTGAAAAAAAAAAT	0.443			NA											7	65	---	---	---	---	NA	NA	NA	NA	NA
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:20920814_20920816delCAG	uc002zsp.2	+	7	831_833	c.751_753delCAG	c.(751-753)CAGdel	p.Q262del	MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.315			NA											7	36	---	---	---	---	NA	NA	NA	NA	NA
ULK4	54986	broad.mit.edu	37	3	41961235	41961235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:41961235delC	uc003ckv.3	-	6	818	c.617delG	c.(616-618)GGCfs	p.G206fs	ULK4_uc003ckw.2_Frame_Shift_Del_p.G206fs|ULK4_uc003ckx.1_Frame_Shift_Del_p.G206fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	206	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGCAGACAGCCCAAAGACCA	0.408			NA											36	150	---	---	---	---	NA	NA	NA	NA	NA
RANBP3L	202151	broad.mit.edu	37	5	36257147	36257147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:36257147delG	uc003jkh.2	-	10	1292	c.799delC	c.(799-801)CTAfs	p.L267fs	RANBP3L_uc011cow.1_Frame_Shift_Del_p.L292fs	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	267					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GATTCAATTAGGGAAGTATTT	0.373			NA											37	69	---	---	---	---	NA	NA	NA	NA	NA
GFRAL	389400	broad.mit.edu	37	6	55196612	55196612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:55196612delC	uc003pcm.1	+	2	208	c.122delC	c.(121-123)GCTfs	p.A41fs		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	41	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTAAACATGCTTGGAGAGTA	0.338			NA											8	37	---	---	---	---	NA	NA	NA	NA	NA
GNAI1	2770	broad.mit.edu	37	7	79846625	79846626	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:79846625_79846626delAC	uc003uhb.1	+	8	1218_1219	c.881_882delAC	c.(880-882)AACfs	p.N294fs	GNAI1_uc011kgt.1_Frame_Shift_Del_p.N242fs	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	294					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCAGGATCAAACACATATGAAG	0.337			NA											11	61	---	---	---	---	NA	NA	NA	NA	NA
RELN	5649	broad.mit.edu	37	7	103207077	103207078	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103207077_103207078insT	uc003vca.2	-	32	4877_4878	c.4717_4718insA	c.(4717-4719)ACGfs	p.T1573fs	RELN_uc010liz.2_Frame_Shift_Ins_p.T1573fs	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1573					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)		TCGAAATGCCGTTGCAGGTGTC	0.495	NSCLC(146;835 1944 15585 22231 52158)		NA											30	121	---	---	---	---	NA	NA	NA	NA	NA
ZFHX4	79776	broad.mit.edu	37	8	77767611	77767611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767611delG	uc003yav.2	+	10	8706	c.8319delG	c.(8317-8319)GAGfs	p.E2773fs	ZFHX4_uc003yau.1_Frame_Shift_Del_p.E2818fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.E2773fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2773						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)			CCGGAGACGAGGGAAACACTG	0.483			NA								HNSCC(33;0.089)			9	43	---	---	---	---	NA	NA	NA	NA	NA
