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
HCRTR1	3061	broad.mit.edu	37	1	32084987	32084987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:32084987C>T	uc009vtx.2	+	3	579	c.194C>T	c.(193-195)ACG>ATG	p.T65M	HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Missense_Mutation_p.R39C|HCRTR1_uc001btd.2_Missense_Mutation_p.T65M|HCRTR1_uc010ogl.1_Missense_Mutation_p.T65M	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	65	Helical; Name=1; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GTGGGCAACACGCTGGGTAGG	0.602			NA											18	58					0	0	0.000566183	0	0
PTPRF	5792	broad.mit.edu	37	1	44071216	44071216	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:44071216G>T	uc001cjr.2	+	19	3746	c.3406G>T	c.(3406-3408)GTG>TTG	p.V1136L	PTPRF_uc001cjs.2_Missense_Mutation_p.V1127L|PTPRF_uc001cju.2_Missense_Mutation_p.V514L|PTPRF_uc009vwt.2_Missense_Mutation_p.V696L|PTPRF_uc001cjv.2_Missense_Mutation_p.V596L|PTPRF_uc001cjw.2_Missense_Mutation_p.V362L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1136	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTACATTGTTGTGGTGCCCAT	0.637			NA											8	42					2.17888e-05	0.000287145	0.000442599	1	0
MCOLN2	255231	broad.mit.edu	37	1	85405312	85405312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:85405312C>A	uc001dkm.2	-	9	1275	c.1034G>T	c.(1033-1035)GGC>GTC	p.G345V	MCOLN2_uc001dkn.2_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	345	Helical; (Potential).					integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACATACCAGCCGTTGATGAA	0.423			NA											23	49					7.41877e-09	1.05299e-07	0.000229342	1	0
FLG	2312	broad.mit.edu	37	1	152277995	152277995	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:152277995C>T	uc001ezu.1	-	3	9403	c.9367G>A	c.(9367-9369)GGG>AGG	p.G3123R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3123	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)			TGGTGGTACCCCTGCCTTCCT	0.607			NA							Ichthyosis				12	399					0	0	0.000958276	0	0
DUSP27	92235	broad.mit.edu	37	1	167097506	167097506	+	Silent	SNP	A	A	G	rs145187556	byFrequency	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:167097506A>G	uc001geb.1	+	5	3138	c.3138A>G	c.(3136-3138)CCA>CCG	p.P1046P		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1046					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GCCGGACCCCAGAGTCCTCAG	0.577			NA											5	32					0	0	8.12818e-05	0	0
ASPM	259266	broad.mit.edu	37	1	197102670	197102670	+	Silent	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:197102670A>T	uc001gtu.2	-	6	2486	c.2229T>A	c.(2227-2229)CCT>CCA	p.P743P	ASPM_uc001gtv.2_Silent_p.P743P|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	743					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TAGGTGCTCTAGGAACACTTA	0.373			NA											4	33					0	0	0.00024832	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433733	204433733	+	Splice_Site	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:204433733C>T	uc001haw.2	-	5	1514	c.1035_splice	c.e5-1	p.I345_splice	PIK3C2B_uc010pqv.1_Splice_Site_p.I345_splice|PIK3C2B_uc001hax.1_Splice_Site_p.I345_splice|PIK3C2B_uc009xbd.1_Splice_Site	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta						cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGATCGAAGGCTGTACAGGAA	0.522			NA											11	56					0	0	0.00010058	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390136	208390136	+	Nonsense_Mutation	SNP	C	C	A	rs144926586		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:208390136C>A	uc001hgz.2	-	2	1890	c.1132G>T	c.(1132-1134)GAG>TAG	p.E378*	PLXNA2_uc001hha.3_Nonsense_Mutation_p.E432*	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	378	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGTTGCCCTCGCCCTGGTAG	0.622			NA											7	45					3.09899e-07	4.27486e-06	0.000274275	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390870	208390870	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:208390870T>A	uc001hgz.2	-	2	1156	c.398A>T	c.(397-399)TAC>TTC	p.Y133F	PLXNA2_uc001hha.3_Missense_Mutation_p.Y187F	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	133	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCCTGGTAGAGGCTCCC	0.582			NA											31	104					0	0	0.000279167	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243419506	243419506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:243419506G>A	uc001hzw.2	+	1	187	c.31G>A	c.(31-33)GAG>AAG	p.E11K	CEP170_uc001hzs.2_5'Flank|CEP170_uc001hzt.2_5'Flank|CEP170_uc001hzu.2_5'Flank|SDCCAG8_uc010pyk.1_5'UTR|SDCCAG8_uc010pyl.1_5'UTR	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	11					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTCTACCCTGGAGGAGATTCT	0.607			NA											9	58					0	0	0.000442599	0	0
OR2L13	284521	broad.mit.edu	37	1	248263055	248263055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:248263055C>A	uc001ids.2	+	3	715	c.378C>A	c.(376-378)TGC>TGA	p.C126*		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCCATCTGCCACTCTCTCT	0.502			NA											25	243					3.08376e-08	4.33489e-07	0.00047179	1	0
OR2T1	26696	broad.mit.edu	37	1	248569566	248569566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:248569566G>T	uc010pzm.1	+	1	271	c.271G>T	c.(271-273)GCC>TCC	p.A91S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	91	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCACTGATGGCCAATGGGGT	0.433			NA											28	100					3.65163e-15	6.26721e-14	0.00106085	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317017	30317017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:30317017C>G	uc001iux.2	-	2	2119	c.2060G>C	c.(2059-2061)AGA>ACA	p.R687T	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R549T|KIAA1462_uc009xle.1_Missense_Mutation_p.R687T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	687										ovary(4)	4						TTGCTGATCTCTGTACCGGTG	0.527			NA											14	51					0	0	0.000422831	0	0
TET1	80312	broad.mit.edu	37	10	70432756	70432756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:70432756G>A	uc001jok.3	+	8	5283	c.4778G>A	c.(4777-4779)AGC>AAC	p.S1593N	TET1_uc009xpw.1_RNA	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1593					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TTTGGTAGAAGCCCAAGCCCC	0.368			NA											10	75					0	0	0.000978159	0	0
TNKS2	80351	broad.mit.edu	37	10	93608227	93608227	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:93608227A>T	uc001khp.2	+	19	2743	c.2446A>T	c.(2446-2448)AGA>TGA	p.R816*		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	816					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CAATGGTGTGAGAAGCCCAGG	0.537			NA											9	80					0	0	0.000442599	0	0
HPSE2	60495	broad.mit.edu	37	10	100380391	100380391	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:100380391G>A	uc001kpn.1	-	8	1233	c.1173C>T	c.(1171-1173)AAC>AAT	p.N391N	HPSE2_uc009xwc.1_Silent_p.N381N|HPSE2_uc001kpo.1_Silent_p.N323N|HPSE2_uc009xwd.1_Silent_p.N269N	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	391					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CGGATAGATTGTTTGTGCCTC	0.483			NA											8	38					0	0	0.000442599	0	0
ANO3	63982	broad.mit.edu	37	11	26463564	26463564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:26463564G>C	uc001mqt.3	+	2	291	c.146G>C	c.(145-147)AGC>ACC	p.S49T	ANO3_uc010rdr.1_Missense_Mutation_p.S33T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	49	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TACTCAAAGAGCTTGAGCCAG	0.473			NA											54	185					0	0	0.000781405	0	0
LRP4	4038	broad.mit.edu	37	11	46924362	46924362	+	Missense_Mutation	SNP	G	G	C	rs142946526	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:46924362G>C	uc001ndn.3	-	2	317	c.171C>G	c.(169-171)TGC>TGG	p.C57W	LRP4_uc009ylh.1_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	57	Extracellular (Potential).|LDL-receptor class A 1.				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)		TGTGGTCCCCGCAGTCATTGT	0.592			NA											5	48					0	0	0.000602214	0	0
OR8I2	120586	broad.mit.edu	37	11	55861302	55861302	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:55861302C>G	uc010rix.1	+	1	519	c.519C>G	c.(517-519)ATC>ATG	p.I173M		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					ATTCCAGCATCAATCATTTTT	0.448			NA											17	113					0	0	0.00074312	0	0
ATM	472	broad.mit.edu	37	11	108117855	108117855	+	Splice_Site	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:108117855G>C	uc001pkb.1	+	8	1450	c.1065_splice	c.e8+1	p.Q355_splice	ATM_uc009yxr.1_Splice_Site_p.Q355_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTCACCAGGTACAGTAAGT	0.338			NA	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			6	31					0	0	8.12818e-05	0	0
CACNA1C	775	broad.mit.edu	37	12	2693732	2693732	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:2693732C>T	uc009zdu.1	+	16	2601	c.2288C>T	c.(2287-2289)ACA>ATA	p.T763I	CACNA1C_uc009zdv.1_Missense_Mutation_p.T760I|CACNA1C_uc001qkb.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkc.2_Missense_Mutation_p.T763I|CACNA1C_uc001qke.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkf.2_Missense_Mutation_p.T763I|CACNA1C_uc001qjz.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkd.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkg.2_Missense_Mutation_p.T763I|CACNA1C_uc009zdw.1_Missense_Mutation_p.T763I|CACNA1C_uc001qkh.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkl.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkn.2_Missense_Mutation_p.T763I|CACNA1C_uc001qko.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkp.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkr.2_Missense_Mutation_p.T763I|CACNA1C_uc001qku.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkq.2_Missense_Mutation_p.T763I|CACNA1C_uc001qks.2_Missense_Mutation_p.T763I|CACNA1C_uc001qkt.2_Missense_Mutation_p.T763I|CACNA1C_uc001qka.1_Missense_Mutation_p.T298I|CACNA1C_uc001qki.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkj.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkk.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkm.1_Missense_Mutation_p.T499I|CACNA1C_uc001qkw.2_Missense_Mutation_p.T52I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	763	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGAGCCTCACATCTGCCCaa	0.438			NA											13	69					0	0	0.000151284	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358836	21358836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:21358836C>A	uc001req.3	+	11	1470	c.1366C>A	c.(1366-1368)CTT>ATT	p.L456I		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	456	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGATGTACCACTTTCTTATTG	0.303			NA											7	47					8.12818e-05	0.00104323	8.12818e-05	1	0
SYT10	341359	broad.mit.edu	37	12	33592376	33592376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:33592376G>A	uc001rll.1	-	1	379	c.82C>T	c.(82-84)CAG>TAG	p.Q28*	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	28	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)					CACTCCACCTGGCCGGCGAAG	0.622			NA											31	150					0	0	0.000279167	0	0
DPY19L2	283417	broad.mit.edu	37	12	64038229	64038229	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:64038229T>A	uc001srp.1	-	6	938	c.757A>T	c.(757-759)AAT>TAT	p.N253Y	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	253	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTAGTCCATTTAAAATAAAG	0.363			NA											14	30					0	0	0.000958276	0	0
CAND1	55832	broad.mit.edu	37	12	67696217	67696217	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:67696217A>G	uc001stn.2	+	8	1552	c.1115A>G	c.(1114-1116)TAC>TGC	p.Y372C	CAND1_uc001sto.2_Missense_Mutation_p.Y50C	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	372	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCAGAATTCTACAAGACCGTC	0.423			NA											3	133					0	0	0.00024832	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595667	120595667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:120595667C>T	uc001txo.2	-	26	3086	c.3073G>A	c.(3073-3075)GGG>AGG	p.G1025R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1025					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCACCCGCCCGGGTGGGGTG	0.602			NA											10	32					0	0	0.000978159	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493			NA											13	131					0	0	0.000720815	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485353	97485353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr13:97485353G>C	uc001vmw.2	+	2	1341	c.1317G>C	c.(1315-1317)AGG>AGC	p.R439S		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	439	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGGAGCGGAGGCTGCAGCGAG	0.597			NA											3	49					0	0	0.00024832	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215836	20215836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:20215836G>T	uc010tkt.1	+	1	250	c.250G>T	c.(250-252)GGG>TGG	p.G84W		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAGATGTTAGGGGATTTCCT	0.463			NA											19	63					6.94344e-10	1.02485e-08	0.00074312	1	0
ARID4A	5926	broad.mit.edu	37	14	58831552	58831552	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:58831552A>G	uc001xdp.2	+	20	2999	c.2745A>G	c.(2743-2745)ATA>ATG	p.I915M	ARID4A_uc001xdo.2_Missense_Mutation_p.I915M|ARID4A_uc001xdq.2_Missense_Mutation_p.I915M|ARID4A_uc010apg.1_Missense_Mutation_p.I593M	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	915					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						CATCATTGATAGCAGAGTCAA	0.363			NA											16	52					0	0	0.00074312	0	0
RTL1	388015	broad.mit.edu	37	14	101350989	101350989	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:101350989C>A	uc010txj.1	-	1	196	c.137G>T	c.(136-138)GGG>GTG	p.G46V	uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	46										pancreas(1)	1						GCTGGCTGGCCCTGCCTCTCC	0.597			NA											12	22					6.40141e-05	0.000828814	0.000978159	1	0
OR4M2	390538	broad.mit.edu	37	15	22368719	22368719	+	Silent	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr15:22368719C>G	uc010tzu.1	+	1	144	c.144C>G	c.(142-144)ACC>ACG	p.T48T	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATTTGCACCATCAGTCTAG	0.428			NA											34	836					0	0	0.000692331	0	0
MEIS2	4212	broad.mit.edu	37	15	37390313	37390313	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr15:37390313G>A	uc001zjr.2	-	2	1137	c.100C>T	c.(100-102)CCC>TCC	p.P34S	MEIS2_uc001zjl.2_Missense_Mutation_p.P21S|MEIS2_uc010ucj.1_Missense_Mutation_p.P21S|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.P34S|MEIS2_uc001zjp.2_Missense_Mutation_p.P34S|MEIS2_uc001zjs.2_Missense_Mutation_p.P34S|MEIS2_uc001zju.2_Missense_Mutation_p.P21S|MEIS2_uc001zjt.2_Missense_Mutation_p.P34S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	34					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAACCGGGGGGATCGGCCGC	0.672			NA											13	46					0	0	0.000151284	0	0
NTHL1	4913	broad.mit.edu	37	16	2089996	2089996	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr16:2089996A>C	uc002col.1	-	6	887	c.868T>G	c.(868-870)TGT>GGT	p.C290G	NTHL1_uc002com.1_Missense_Mutation_p.C291G	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	290		Iron-sulfur (4Fe-4S) (By similarity).			depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						ACAGGCAGACAGGTCTGCTGG	0.697			NA						BER_DNA_glycosylases					10	37					0	0	0.000978159	0	0
HYDIN	54768	broad.mit.edu	37	16	70891750	70891750	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr16:70891750G>A	uc002ezr.2	-	72	12278	c.12150C>T	c.(12148-12150)TTC>TTT	p.F4050F	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4051										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGCCCAGATGGAAAGGTGTGA	0.468			NA											8	28					0	0	0.000274275	0	0
NF1	4763	broad.mit.edu	37	17	29664869	29664869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:29664869G>A	uc002hgg.2	+	44	7008	c.6675G>A	c.(6673-6675)TGG>TGA	p.W2225*	NF1_uc002hgh.2_Nonsense_Mutation_p.W2204*|NF1_uc010cso.2_Nonsense_Mutation_p.W413*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2225					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGTGCAAGTGGCTGGACCAGT	0.318			NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	22					0	0	8.12818e-05	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929916	42929916	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:42929916T>A	uc002ihn.2	-	26	2837	c.2576A>T	c.(2575-2577)CAG>CTG	p.Q859L	EFTUD2_uc010wje.1_Missense_Mutation_p.Q824L|EFTUD2_uc010wjf.1_Missense_Mutation_p.Q849L	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	859						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GGGTGCATCCTGAGTCACGTG	0.522	Ovarian(10;65 485 10258 29980 30707)		NA											9	117					0	0	0.000673444	0	0
ABCA9	10350	broad.mit.edu	37	17	66985997	66985997	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:66985997C>T	uc002jhu.2	-	30	4055	c.3912G>A	c.(3910-3912)AAG>AAA	p.K1304K	ABCA9_uc010dez.2_Silent_p.K1266K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1304	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CAATTTTTTTCTTCCTTTTAG	0.358			NA											8	48					0	0	0.000157383	0	0
SLMO1	10650	broad.mit.edu	37	18	12420398	12420398	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr18:12420398T>A	uc002kra.2	+	2	187	c.107T>A	c.(106-108)GTG>GAG	p.V36E	SLMO1_uc010wzu.1_Missense_Mutation_p.V36E|SLMO1_uc010wzv.1_Missense_Mutation_p.V15E	NM_001142405	NP_001135877	Q96N28	SLMO1_HUMAN	slowmo homolog 1 isoform 1	36	PRELI/MSF1.										0						GTGCTGGGCGTGGATGTGCTA	0.711			NA											5	22					0	0	3.59834e-05	0	0
STK11	6794	broad.mit.edu	37	19	1221228	1221229	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:1221228_1221229GG>TT	uc002lrl.1	+	6	1866_1867	c.751_752GG>TT	c.(751-753)GGT>TTT	p.G251F		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	251	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCACCACGGGTCTGTACCCC	0.589			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			3	19					0	0	6.4e-05	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767776	31767776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:31767776C>A	uc002nsy.3	-	2	2988	c.2923G>T	c.(2923-2925)GTC>TTC	p.V975F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	975					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CAAAAGAAGACGGGGTGGCCA	0.512			NA											24	62					7.41945e-09	1.05299e-07	0.000878237	1	0
MAP3K10	4294	broad.mit.edu	37	19	40710443	40710443	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:40710443G>A	uc002ona.2	+	3	1203	c.915G>A	c.(913-915)GAG>GAA	p.E305E	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	305	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						CCTACCGTGAGATCGACGCCT	0.667			NA											6	39					0	0	8.12818e-05	0	0
ZNF235	9310	broad.mit.edu	37	19	44792062	44792062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:44792062T>A	uc002oza.3	-	5	1629	c.1526A>T	c.(1525-1527)CAT>CTT	p.H509L	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H505L|ZNF235_uc010xwx.1_Missense_Mutation_p.H423L	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	509	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTCTCCTGTATGGACCCTCTG	0.448			NA											8	160					0	0	0.000274275	0	0
RTN2	6253	broad.mit.edu	37	19	45989342	45989342	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:45989342C>T	uc002pcb.2	-	10	1755	c.1527G>A	c.(1525-1527)GTG>GTA	p.V509V	RTN2_uc002pcc.2_Silent_p.V436V|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	509	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACTGATTGGTCACCAACCCCA	0.522			NA									OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	74					0	0	0.000157383	0	0
KLK11	11012	broad.mit.edu	37	19	51525889	51525889	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:51525889T>A	uc002pvd.1	-	6	873	c.761A>T	c.(760-762)GAT>GTT	p.D254V	KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Missense_Mutation_p.D247V|KLK11_uc002pve.1_Missense_Mutation_p.D111V|KLK11_uc002pvf.1_Missense_Mutation_p.D222V|KLK11_uc002pvc.3_Missense_Mutation_p.D222V	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CGCACACGGATCCTGGCCCCA	0.552			NA											7	111					0	0	0.000274275	0	0
NLRP12	91662	broad.mit.edu	37	19	54313810	54313810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:54313810G>T	uc002qch.3	-	3	1323	c.1103C>A	c.(1102-1104)GCA>GAA	p.A368E	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A368E|NLRP12_uc002qcj.3_Missense_Mutation_p.A368E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A368E	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	368	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTCCTTTCTGCCTCAGAGAA	0.542			NA											38	171					2.52637e-11	3.8843e-10	0.00111076	1	0
ITSN2	50618	broad.mit.edu	37	2	24498701	24498701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:24498701G>T	uc002rfe.2	-	18	2220	c.1962C>A	c.(1960-1962)TAC>TAA	p.Y654*	ITSN2_uc002rff.2_Nonsense_Mutation_p.Y627*|ITSN2_uc002rfg.2_Nonsense_Mutation_p.Y654*	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	654	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTGTGTTGTAGGTTTCTC	0.323			NA											10	53					4.68919e-08	6.52947e-07	0.000673444	1	0
PSME4	23198	broad.mit.edu	37	2	54148147	54148147	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:54148147T>A	uc002rxp.2	-	18	2197	c.2141A>T	c.(2140-2142)TAC>TTC	p.Y714F	PSME4_uc010yop.1_Missense_Mutation_p.Y600F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.Y89F|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	714					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGACAGAGTGTAACCCTGCTT	0.433			NA											25	120					0	0	0.000586117	0	0
RTKN	6242	broad.mit.edu	37	2	74659594	74659594	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:74659594C>T	uc002sle.2	-	2	428	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	RTKN_uc002slc.2_Missense_Mutation_p.R91Q|RTKN_uc002sld.2_Missense_Mutation_p.R54Q|RTKN_uc010ffe.1_Intron|RTKN_uc010fff.1_Missense_Mutation_p.R91Q|RTKN_uc010ffg.1_Missense_Mutation_p.R104Q	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	104					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						CCTTGCTCACCGCCGGCTTGT	0.637			NA											6	79					0	0	8.12818e-05	0	0
PTPN4	5775	broad.mit.edu	37	2	120677693	120677693	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:120677693G>A	uc002tmf.1	+	12	1648	c.877G>A	c.(877-879)GCA>ACA	p.A293T	PTPN4_uc010flj.1_Missense_Mutation_p.A6T	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	293	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	GAATTACAGAGCATGTAAAAA	0.333			NA											12	78					0	0	0.000978159	0	0
DARS	1615	broad.mit.edu	37	2	136673803	136673803	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:136673803C>T	uc002tux.1	-	11	1283	c.1099G>A	c.(1099-1101)GAT>AAT	p.D367N	DARS_uc010fnj.1_Missense_Mutation_p.D267N	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	367					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AACCTCAGATCGTCTTCATCT	0.264			NA											9	57					0	0	0.000673444	0	0
MYO3B	140469	broad.mit.edu	37	2	171239692	171239692	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:171239692C>A	uc002ufy.2	+	11	1321	c.1178C>A	c.(1177-1179)TCT>TAT	p.S393Y	MYO3B_uc002ufv.2_Missense_Mutation_p.S380Y|MYO3B_uc010fqb.1_Missense_Mutation_p.S380Y|MYO3B_uc002ufz.2_Missense_Mutation_p.S393Y|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	393	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						AGCATATACTCTCCACAGGTA	0.348			NA											20	110					6.44725e-10	9.61227e-09	0.000295444	1	0
MAP2	4133	broad.mit.edu	37	2	210560942	210560942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:210560942G>T	uc002vde.1	+	7	4296	c.4048G>T	c.(4048-4050)GCT>TCT	p.A1350S	MAP2_uc002vdc.1_Missense_Mutation_p.A1350S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1346S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1350					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCCCCAGAGGCTCCAGCTTC	0.483	Pancreas(27;423 979 28787 29963)		NA											22	88					6.21321e-17	1.09175e-15	0.000375601	1	0
WDR69	164781	broad.mit.edu	37	2	228767798	228767798	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:228767798G>A	uc002vpn.1	+	7	700	c.621G>A	c.(619-621)CAG>CAA	p.Q207Q	WDR69_uc010zlw.1_Silent_p.Q192Q|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	207	WD 3.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGGACATTCAGAATGGCGAGG	0.358			NA											9	42					0	0	0.000673444	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354495	45354495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr20:45354495G>T	uc002xsl.2	+	2	917	c.820G>T	c.(820-822)GTG>TTG	p.V274L		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	274	Helical; Name=8; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGCCTCTGTGGGGCTTGG	0.632			NA											31	75					6.90743e-12	1.08461e-10	0.000692331	1	0
TPTE	7179	broad.mit.edu	37	21	10959797	10959797	+	Silent	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr21:10959797C>G	uc002yip.1	-	8	545	c.177G>C	c.(175-177)GTG>GTC	p.V59V	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V41V|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	59					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGTGCTAACACACTTTAGC	0.328			NA											4	111					0	0	0.00024832	0	0
IGLL1	3543	broad.mit.edu	37	22	23915549	23915549	+	Silent	SNP	C	C	G	rs146592375		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr22:23915549C>G	uc002zxd.2	-	3	664	c.546G>C	c.(544-546)ACG>ACC	p.T182T	IGLL1_uc002zxe.2_3'UTR	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	182	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane					0						ACTGCTCGGGCGTCAGGCTCA	0.612			NA											20	54					0	0	0.000175454	0	0
MYH9	4627	broad.mit.edu	37	22	36710225	36710225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr22:36710225C>G	uc003apg.2	-	13	1750	c.1519G>C	c.(1519-1521)GAC>CAC	p.D507H	MYH9_uc003aph.1_Missense_Mutation_p.D371H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	507	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCTGCAGGTCGAGGCCAAAG	0.582			NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				7	34					0	0	0.000157383	0	0
MITF	4286	broad.mit.edu	37	3	69990419	69990419	+	Silent	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr3:69990419A>G	uc003dnz.2	+	5	815	c.699A>G	c.(697-699)CTA>CTG	p.L233L	MITF_uc011bgb.1_Silent_p.L181L|MITF_uc003doa.2_Silent_p.L232L|MITF_uc003dob.2_Silent_p.L217L|MITF_uc003dod.2_Silent_p.L208L|MITF_uc003doe.2_Silent_p.L126L|MITF_uc003dof.2_Silent_p.L126L	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	233	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCATTAGCCTAGAATCAAGTT	0.343	Melanoma(29;269 969 31479 41502 42961)		NA	A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						5	29					0	0	8.12818e-05	0	0
CNTN3	5067	broad.mit.edu	37	3	74411061	74411061	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr3:74411061C>T	uc003dpm.1	-	10	1424	c.1344G>A	c.(1342-1344)GTG>GTA	p.V448V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	448	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCTGCACGCTCACATCCCCCT	0.468			NA											7	71					0	0	8.12818e-05	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038924	41038924	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:41038924G>T	uc003jmj.3	-	21	2618	c.2128C>A	c.(2128-2130)CTC>ATC	p.L710I	HEATR7B2_uc003jmi.3_Missense_Mutation_p.L265I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	710							binding			ovary(6)|central_nervous_system(2)	8						GGAGCATGGAGGGCCACTGCT	0.478			NA											9	37					3.86212e-05	0.000504468	0.000673444	1	0
GPR98	84059	broad.mit.edu	37	5	90072275	90072275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:90072275G>T	uc003kju.2	+	61	12505	c.12409G>T	c.(12409-12411)GCA>TCA	p.A4137S	GPR98_uc003kjt.2_Missense_Mutation_p.A1843S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4137	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAGGTAGTGCATCAATAAT	0.318			NA											5	17					0.000602214	0.00766266	0.000602214	1	0
YTHDC2	64848	broad.mit.edu	37	5	112860861	112860861	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:112860861T>A	uc003kqn.2	+	3	645	c.462T>A	c.(460-462)TTT>TTA	p.F154L	YTHDC2_uc010jce.1_Missense_Mutation_p.F154L|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	154							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAATGTGTTTGCAGTTGAAG	0.353			NA											6	34					0	0	8.12818e-05	0	0
NMUR2	56923	broad.mit.edu	37	5	151784021	151784021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:151784021C>A	uc003luv.2	-	1	820	c.654G>T	c.(652-654)CAG>CAT	p.Q218H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	218	Helical; Name=5; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGAGGTGACCTGGATGATGA	0.532			NA											16	110					2.23348e-06	3.02442e-05	0.000422831	1	0
LCP2	3937	broad.mit.edu	37	5	169697723	169697723	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:169697723C>A	uc003man.1	-	7	730	c.523G>T	c.(523-525)GAC>TAC	p.D175Y	LCP2_uc011det.1_Missense_Mutation_p.D4Y|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	175					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGCCCTTACCGATGTACATG	0.582			NA											16	60					2.48551e-13	4.03143e-12	0.000566183	1	0
PHIP	55023	broad.mit.edu	37	6	79655879	79655879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:79655879T>C	uc003pir.2	-	38	4695	c.4469A>G	c.(4468-4470)AAT>AGT	p.N1490S	PHIP_uc003piq.2_Missense_Mutation_p.N514S|PHIP_uc011dyp.1_Missense_Mutation_p.N1489S|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.N376S	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1490					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGAGCAGCATTGTGTCTTGG	0.438			NA											11	83					0	0	0.000978159	0	0
HS3ST5	222537	broad.mit.edu	37	6	114383989	114383989	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:114383989C>T	uc003pwg.3	-	1	53	c.21G>A	c.(19-21)GCG>GCA	p.A7A	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.A7A	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	7	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTCTCAGCCACGCCTGCTGTT	0.547			NA											10	62					0	0	0.000673444	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762987	130762987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:130762987C>T	uc003qca.2	+	3	2291	c.1420C>T	c.(1420-1422)CAT>TAT	p.H474Y	TMEM200A_uc010kfh.2_Missense_Mutation_p.H474Y|TMEM200A_uc010kfi.2_Missense_Mutation_p.H474Y|TMEM200A_uc003qcb.2_Missense_Mutation_p.H474Y	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	474	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGTTTTGAACATGATGAGTT	0.323			NA											10	29					0	0	0.000442599	0	0
UTRN	7402	broad.mit.edu	37	6	144803496	144803496	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:144803496G>A	uc003qkt.2	+	26	3751	c.3659G>A	c.(3658-3660)AGA>AAA	p.R1220K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1220	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGTAATAGAATTCGAGGA	0.343			NA											11	32					0	0	0.000151284	0	0
CPVL	54504	broad.mit.edu	37	7	29070208	29070208	+	Silent	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:29070208C>A	uc003szv.2	-	12	1424	c.1305G>T	c.(1303-1305)GCG>GCT	p.A435A	CPVL_uc003szw.2_Silent_p.A435A|CPVL_uc003szx.2_Silent_p.A435A	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	435					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						GGAAGTCACCCGCTTGCCGGA	0.478			NA											35	190					5.71845e-15	9.70165e-14	0.00111076	1	0
PION	54103	broad.mit.edu	37	7	76982913	76982913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:76982913C>A	uc003ugf.2	-	17	1463	c.1384G>T	c.(1384-1386)GAC>TAC	p.D462Y	PION_uc003ugg.1_Missense_Mutation_p.D247Y	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	462					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TGAATGAGGTCAAATGAATGG	0.378			NA											9	52					0.000673444	0.00849576	0.000673444	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762430	92762430	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:92762430C>G	uc003umh.1	-	5	4071	c.2855G>C	c.(2854-2856)AGT>ACT	p.S952T	SAMD9L_uc003umj.1_Missense_Mutation_p.S952T|SAMD9L_uc003umi.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfb.1_Missense_Mutation_p.S952T|SAMD9L_uc003umk.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfc.1_Missense_Mutation_p.S952T|SAMD9L_uc010lfd.1_Missense_Mutation_p.S952T|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	952										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAGGGTGTACTAGTGTATAT	0.383			NA											3	28					0	0	6.4e-05	0	0
FLNC	2318	broad.mit.edu	37	7	128481258	128481258	+	Silent	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:128481258C>A	uc003vnz.3	+	12	2057	c.1848C>A	c.(1846-1848)ATC>ATA	p.I616I	FLNC_uc003voa.3_Silent_p.I616I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	616	Filamin 4.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						AAGCCAAGATCGAATGTGACG	0.637			NA											20	77					5.26018e-13	8.43916e-12	0.000229342	1	0
SLC35B4	84912	broad.mit.edu	37	7	133986513	133986513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:133986513C>A	uc003vrn.2	-	6	811	c.487G>T	c.(487-489)GGT>TGT	p.G163C	SLC35B4_uc010lmk.2_Missense_Mutation_p.G27C|SLC35B4_uc010lml.1_Missense_Mutation_p.G95C|SLC35B4_uc003vro.3_Missense_Mutation_p.G163C	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	163	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						TTGTACTTGCCTAGTAACCAC	0.393			NA											30	170					4.31634e-10	6.50093e-09	0.000409698	1	0
TRY6	154754	broad.mit.edu	37	7	142482242	142482242	+	Missense_Mutation	SNP	G	G	A	rs143538588	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:142482242G>A	uc011ksq.1	+	5	705	c.622G>A	c.(622-624)GGA>AGA	p.G208R	uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron	NR_001296				SubName: Full=Protease, serine, 3; Flags: Fragment;												0						GGTCTGCAATGGACAGCTTCA	0.493			NA											5	50					0	0	3.59834e-05	0	0
OR6B1	135946	broad.mit.edu	37	7	143701548	143701548	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:143701548T>C	uc003wdt.1	+	1	459	c.459T>C	c.(457-459)TTT>TTC	p.F153F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					CCATTGGCTTTGGCATCTCCC	0.532			NA											4	31					0	0	0.00024832	0	0
PLAG1	5324	broad.mit.edu	37	8	57080807	57080807	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:57080807C>T	uc003xsq.3	-	2	473	c.22G>A	c.(22-24)GAT>AAT	p.D8N	PLAG1_uc003xsr.3_Missense_Mutation_p.D8N|PLAG1_uc010lyi.2_Missense_Mutation_p.D8N|PLAG1_uc010lyj.2_Intron	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	8	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTGACAAATCACCAGGAATG	0.463			NA	T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								7	67					0	0	0.000274275	0	0
CHD7	55636	broad.mit.edu	37	8	61774808	61774808	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:61774808T>C	uc003xue.2	+	36	8361	c.7884T>C	c.(7882-7884)CAT>CAC	p.H2628H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAACGACATAGATGTCGAA	0.353			NA											4	16					0	0	0.00024832	0	0
DPY19L4	286148	broad.mit.edu	37	8	95792635	95792635	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:95792635T>C	uc003ygx.2	+	15	1748	c.1624T>C	c.(1624-1626)TGG>CGG	p.W542R		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	542	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					TCTCAGCTTATGGAAAGAGGt	0.299			NA											11	38					0	0	0.000978159	0	0
ZFAT	57623	broad.mit.edu	37	8	135622829	135622829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:135622829G>A	uc003yup.2	-	4	693	c.518C>T	c.(517-519)CCA>CTA	p.P173L	ZFAT_uc003yun.2_Missense_Mutation_p.P161L|ZFAT_uc003yuo.2_Missense_Mutation_p.P161L|ZFAT_uc010meh.2_Missense_Mutation_p.P161L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.P161L|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.P161L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTGACCGTGGTCTTTTCGA	0.443			NA											17	66					0	0	0.000229342	0	0
FBXO10	26267	broad.mit.edu	37	9	37541466	37541466	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:37541466T>C	uc004aab.2	-	2	349	c.300A>G	c.(298-300)CTA>CTG	p.L100L	FBXO10_uc004aac.2_Silent_p.L116L|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	100						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		TCCGGCGGAATAGAGAAAAGC	0.552			NA											8	33					0	0	0.000157383	0	0
COL15A1	1306	broad.mit.edu	37	9	101824569	101824569	+	Missense_Mutation	SNP	C	C	T	rs142838918	byFrequency	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:101824569C>T	uc004azb.1	+	38	3780	c.3574C>T	c.(3574-3576)CCT>TCT	p.P1192S		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1192	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CCCTCCACCCCCTGCGCTTTC	0.458			NA											7	39					0	0	0.000274275	0	0
ASS1	445	broad.mit.edu	37	9	133333866	133333866	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:133333866G>T	uc004bzm.2	+	5	609	c.253G>T	c.(253-255)GAC>TAC	p.D85Y	ASS1_uc004bzn.2_Missense_Mutation_p.D85Y|ASS1_uc010mza.2_Missense_Mutation_p.D161Y|ASS1_uc004bzo.2_Missense_Mutation_p.D85Y|ASS1_uc010mzb.2_Missense_Mutation_p.D123Y|ASS1_uc004bzp.2_Missense_Mutation_p.D85Y|ASS1_uc010mzc.2_Missense_Mutation_p.D85Y	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	85					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACTGTATGAGGACCGCTACCT	0.612			NA											8	41					5.18039e-06	6.95114e-05	0.000157383	1	0
SARDH	1757	broad.mit.edu	37	9	136529011	136529011	+	Nonstop_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:136529011T>C	uc004cep.3	-	21	2891	c.2757A>G	c.(2755-2757)TGA>TGG	p.*919W	SARDH_uc004ceo.2_Nonstop_Mutation_p.*919W|SARDH_uc011mdn.1_Nonstop_Mutation_p.*919W|SARDH_uc011mdo.1_Nonstop_Mutation_p.*751W|SARDH_uc004cen.2_Nonstop_Mutation_p.*369W	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	919					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTGAGCCCTCAGTAGATTC	0.597			NA											4	170					0	0	0.000602214	0	0
VCX	26609	broad.mit.edu	37	X	7811292	7811292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:7811292G>T	uc004crz.2	+	2	267	c.48G>T	c.(46-48)GAG>GAT	p.E16D		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	16					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGGCCACGGAGGCAGGAAAGA	0.632			NA											18	154					4.65686e-17	8.28136e-16	0.000692331	1	0
FAM47A	158724	broad.mit.edu	37	X	34149183	34149183	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:34149183T>C	uc004ddg.2	-	1	1246	c.1213A>G	c.(1213-1215)AAG>GAG	p.K405E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	405										ovary(4)|central_nervous_system(1)	5						ACTCCAGTCTTGGGAGGCACT	0.577			NA											12	46					0	0	0.00010058	0	0
PIM2	11040	broad.mit.edu	37	X	48772360	48772360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:48772360C>A	uc004dls.2	-	4	834	c.532G>T	c.(532-534)GCC>TCC	p.A178S		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	serine/threonine protein kinase pim-2	178	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ATGAGTTTGGCACAGCCACGG	0.498			NA											11	43					9.05144e-12	1.40631e-10	0.000151284	1	0
WNK3	65267	broad.mit.edu	37	X	54359891	54359891	+	Silent	SNP	G	G	T	rs144041648		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:54359891G>T	uc004dtd.1	-	2	655	c.216C>A	c.(214-216)GCC>GCA	p.A72A	WNK3_uc004dtc.1_Silent_p.A72A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	72					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GGGATGATTCGGCAACTTTGT	0.393			NA											31	105					1.30897e-18	2.35615e-17	0.000279167	1	0
ERCC6L	54821	broad.mit.edu	37	X	71426847	71426847	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:71426847T>C	uc004eaq.1	-	2	1867	c.1770A>G	c.(1768-1770)GTA>GTG	p.V590V	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.V467V	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	590	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					TTTTTTCCTCTACAGTCCCAC	0.368			NA											15	90					0	0	0.000308642	0	0
COL4A6	1288	broad.mit.edu	37	X	107418883	107418883	+	Splice_Site	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:107418883C>A	uc004enw.3	-	29	2936	c.2833_splice	c.e29+1	p.G945_splice	COL4A6_uc004env.3_Splice_Site_p.G944_splice|COL4A6_uc011msn.1_Splice_Site_p.G944_splice|COL4A6_uc010npk.2_Splice_Site_p.G944_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCCCAGCTCACCCTTTTCACC	0.428	Melanoma(87;1895 1945 2589 7165)		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				15	68					1.56452e-12	2.48305e-11	0.000958276	1	0
ACSL4	2182	broad.mit.edu	37	X	108926642	108926642	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:108926642A>G	uc004eoi.2	-	4	579	c.74T>C	c.(73-75)CTT>CCT	p.L25P	ACSL4_uc004eoj.2_Intron|ACSL4_uc004eok.2_Intron|ACSL4_uc010npp.1_Missense_Mutation_p.L25P	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	25	Helical; Signal-anchor for type III membrane protein; (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	AATAAATATAAGGGCACTGTA	0.373	Pancreas(188;358 2127 38547 41466 45492)		NA											28	102					0	0	0.000184323	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222678	130222678	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:130222678C>T	uc004evz.2	+	12	1908	c.1563C>T	c.(1561-1563)CCC>CCT	p.P521P	ARHGAP36_uc004ewa.2_Silent_p.P509P|ARHGAP36_uc004ewb.2_Silent_p.P490P|ARHGAP36_uc004ewc.2_Silent_p.P385P	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						GTAACCCTCCCATTCCGGAGC	0.517			NA											11	35					0	0	0.00010058	0	0
DDX26B	203522	broad.mit.edu	37	X	134681100	134681100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:134681100C>A	uc004eyw.3	+	6	1015	c.652C>A	c.(652-654)CAA>AAA	p.Q218K		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	218	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTTGAATCAATGTTTAGA	0.328			NA											21	182					8.24728e-16	1.43212e-14	0.000720815	1	0
CT45A1	541466	broad.mit.edu	37	X	134856769	134856769	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:134856769A>C	uc004eyy.2	+	5	789	c.544A>C	c.(544-546)AAG>CAG	p.K182Q		NM_001017417	NP_001017417	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	182											0						TAAGCACCTTAAGAAGAAACT	0.383			NA											6	596					0	0	0.000442599	0	0
MMGT1	93380	broad.mit.edu	37	X	135047290	135047290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:135047290C>A	uc004ezi.1	-	4	589	c.289G>T	c.(289-291)GGT>TGT	p.G97C	MMGT1_uc011mvw.1_Missense_Mutation_p.G162C	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	97	Cytoplasmic (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						AGTACTCGACCACGATGATTA	0.363			NA											27	180					7.26314e-15	1.21823e-13	0.000184323	1	0
MCF2	4168	broad.mit.edu	37	X	138708452	138708452	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:138708452A>T	uc004fau.2	-	6	881	c.587T>A	c.(586-588)GTA>GAA	p.V196E	MCF2_uc004fav.2_Missense_Mutation_p.V196E|MCF2_uc011mwl.1_Missense_Mutation_p.V157E|MCF2_uc010nsh.1_Missense_Mutation_p.V196E|MCF2_uc011mwm.1_Missense_Mutation_p.V157E|MCF2_uc011mwn.1_Missense_Mutation_p.V341E|MCF2_uc004faw.2_Missense_Mutation_p.V256E|MCF2_uc011mwo.1_Missense_Mutation_p.V256E	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	196					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)					CATATCATGTACTTGAGTCAG	0.338			NA											19	69					0	0	0.000175454	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106420	147106420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:147106420G>T	uc004fcm.2	+	5	742	c.668G>T	c.(667-669)AGA>ATA	p.R223I		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	223	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACAACAGAGTTGTAACG	0.418			NA											17	91					3.32936e-07	4.55012e-06	0.00074312	1	0
MAGEA6	4105	broad.mit.edu	37	X	151870199	151870199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:151870199C>T	uc004ffq.1	+	3	1083	c.889C>T	c.(889-891)CCT>TCT	p.P297S	MAGEA6_uc004ffr.1_Missense_Mutation_p.P297S|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	297	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGAGGACCTCGCATTTC	0.552			NA											8	226					0	0	0.000157383	0	0
F8	2157	broad.mit.edu	37	X	154158121	154158121	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:154158121C>T	uc004fmt.2	-	14	4115	c.3944G>A	c.(3943-3945)AGG>AAG	p.R1315K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1315	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGAGATATCCTTGTGGTGCA	0.388			NA											13	130					0	0	0.000151284	0	0
LRRN2	10446	broad.mit.edu	37	1	204587091	204587091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:204587091delG	uc001hbe.1	-	3	2418	c.2030delC	c.(2029-2031)CCTfs	p.P677fs	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.P677fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.P677fs|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	677	Cytoplasmic (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCGGACAGAAGGGGCACTCCA	0.652			NA											11	108	---	---	---	---	NA	NA	NA	NA	NA
TUBA3C	7278	broad.mit.edu	37	13	19751481	19751481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr13:19751481delC	uc009zzj.2	-	4	691	c.642delG	c.(640-642)CGGfs	p.R214fs		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	214					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAGGTTGCGCCGACATATGT	0.572			NA											12	151	---	---	---	---	NA	NA	NA	NA	NA
DNAH9	1770	broad.mit.edu	37	17	11656200	11656200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:11656200delC	uc002gne.2	+	33	6729	c.6661delC	c.(6661-6663)CCCfs	p.P2221fs	DNAH9_uc010coo.2_Frame_Shift_Del_p.P1515fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2221	AAA 2 (By similarity).				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)		CCATGATGGGCCCAAGTGGAT	0.428			NA											9	41	---	---	---	---	NA	NA	NA	NA	NA
TBC1D9	23158	broad.mit.edu	37	4	141578684	141578684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr4:141578684delC	uc010ioj.2	-	12	2476	c.2204delG	c.(2203-2205)GGAfs	p.G735fs		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	735						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACAATACCTTCCCAAAACGGT	0.423			NA											42	208	---	---	---	---	NA	NA	NA	NA	NA
