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
UBE4B	10277	broad.mit.edu	37	1	10207112	10207112	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:10207112A>T	uc001aqs.3	+	19	3268	c.2555A>T	c.(2554-2556)CAG>CTG	p.Q852L	UBE4B_uc001aqr.3_Missense_Mutation_p.Q723L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.Q307L|UBE4B_uc001aqt.1_Missense_Mutation_p.Q192L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	852					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTTCTCATTCAGCTGCTGCTC	0.527			NA											40	103					0	0	0.006999	0	0
KIF1B	23095	broad.mit.edu	37	1	10355764	10355764	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:10355764G>T	uc001aqx.3	+	19	1919	c.1717G>T	c.(1717-1719)GGG>TGG	p.G573W	KIF1B_uc001aqv.3_Missense_Mutation_p.G527W|KIF1B_uc001aqw.3_Missense_Mutation_p.G527W|KIF1B_uc001aqy.2_Missense_Mutation_p.G547W|KIF1B_uc001aqz.2_Missense_Mutation_p.G573W|KIF1B_uc001ara.2_Missense_Mutation_p.G533W|KIF1B_uc001arb.2_Missense_Mutation_p.G559W	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	573	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGCTGAGCGGGGCTCACAT	0.507			NA											13	61					0.000308642	0.000346293	0.003163	1	0
CASP9	842	broad.mit.edu	37	1	15844850	15844850	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:15844850A>C	uc001awn.2	-	2	268	c.173T>G	c.(172-174)CTG>CGG	p.L58R	CASP9_uc001awm.1_Missense_Mutation_p.L58R|CASP9_uc001awo.2_Missense_Mutation_p.L58R|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	58	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATCTATGATCAGCTGCCTGGC	0.517			NA											15	55					0	0	0.004007	0	0
ESPNP	284729	broad.mit.edu	37	1	17023377	17023377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:17023377G>T	uc001azn.1	-	9	1571	c.1457C>A	c.(1456-1458)TCG>TAG	p.S486*		NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						CAGTAGCTCCGAGTTGTCGCC	0.617			NA											8	16					5.18039e-06	6.31954e-06	0.00308	1	0
NBL1	4681	broad.mit.edu	37	1	19983389	19983389	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:19983389G>A	uc001bck.1	+	4	465	c.310G>A	c.(310-312)GTG>ATG	p.V104M	NBL1_uc009vpl.1_Missense_Mutation_p.V105M|NBL1_uc001bcj.1_Missense_Mutation_p.V140M|NBL1_uc009vpm.1_Missense_Mutation_p.V105M	NM_005380	NP_005371	P41271	NBL1_HUMAN	neuroblastoma, suppression of tumorigenicity 1 2	104	CTCK.					extracellular region				ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGAGGAGGTGCCCAGGGT	0.642			NA											8	16					0	0	0.00308	0	0
RAB42	115273	broad.mit.edu	37	1	28920492	28920492	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:28920492G>A	uc001bqu.2	+	2	487	c.181G>A	c.(181-183)GCT>ACT	p.A61T	RAB42_uc001bqv.2_Missense_Mutation_p.A61T	NM_152304	NP_689517	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	61					small GTPase mediated signal transduction	membrane	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		TGACACCCTCGCTGATGCTAT	0.617			NA											8	23					0	0	0.004482	0	0
CSMD2	114784	broad.mit.edu	37	1	34033332	34033332	+	Missense_Mutation	SNP	G	G	T	rs140959425		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:34033332G>T	uc001bxn.1	-	54	8201	c.8172C>A	c.(8170-8172)AAC>AAA	p.N2724K	CSMD2_uc001bxm.1_Missense_Mutation_p.N2747K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2724	Sushi 18.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGTGTCCGTTGACAATGG	0.547			NA											7	14					3.09899e-07	4.00405e-07	0.004482	1	0
SFPQ	6421	broad.mit.edu	37	1	35652807	35652807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:35652807C>A	uc001bys.2	-	8	1954	c.1861G>T	c.(1861-1863)GGA>TGA	p.G621*	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	621					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CACTTACCTCCCATGTTCATT	0.403			NA	T	TFE3	papillary renal cell								10	149					0.00829132	0.00880795	0.008291	1	0
RLF	6018	broad.mit.edu	37	1	40701600	40701600	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:40701600G>A	uc001cfc.3	+	8	1257	c.1226G>A	c.(1225-1227)AGA>AAA	p.R409K	RLF_uc001cfd.3_Missense_Mutation_p.R100K	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	409					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTAGAAGTTAGACGAGCCTGT	0.353			NA											11	74					0	0	0.008291	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758147	40758147	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:40758147C>T	uc001cfg.2	+	10	1445	c.1234C>T	c.(1234-1236)CGC>TGC	p.R412C		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	412						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGTCCTAAGCCGCAGATTTGA	0.383			NA											14	137					0	0	0.00499	0	0
TM2D1	83941	broad.mit.edu	37	1	62175007	62175007	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:62175007C>T	uc001czz.1	-	3	644	c.341G>A	c.(340-342)CGA>CAA	p.R114Q		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	beta-amyloid binding protein precursor	114					apoptosis					ovary(1)	1						TTACACATTTCGGCAAGATAT	0.363			NA											5	38					0	0	0.001168	0	0
C1orf141	400757	broad.mit.edu	37	1	67559010	67559010	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:67559010T>A	uc001ddl.1	-	7	992	c.881A>T	c.(880-882)GAT>GTT	p.D294V	C1orf141_uc001ddm.1_Missense_Mutation_p.D294V|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	294										ovary(1)	1						TAGTTTATCATCTACAGTTGT	0.333			NA											29	29					0	0	0.00632	0	0
IL23R	149233	broad.mit.edu	37	1	67724401	67724401	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:67724401G>A	uc001ddo.2	+	11	1565	c.1480G>A	c.(1480-1482)GAG>AAG	p.E494K	IL23R_uc009waz.2_Missense_Mutation_p.E291K|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.E92K|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.E76K|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.E240K|IL23R_uc010opn.1_Missense_Mutation_p.E339K|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.E291K|IL23R_uc010opt.1_Missense_Mutation_p.E135K|IL23R_uc010opu.1_Missense_Mutation_p.E190K|IL23R_uc010opv.1_Missense_Mutation_p.E252K|IL23R_uc010opw.1_Missense_Mutation_p.E129K|IL23R_uc010opx.1_Missense_Mutation_p.E135K|IL23R_uc010opy.1_Missense_Mutation_p.E261K|IL23R_uc010opz.1_Missense_Mutation_p.E135K|IL23R_uc010oqa.1_Missense_Mutation_p.E135K|IL23R_uc010oqb.1_Missense_Mutation_p.E323K|IL23R_uc010oqc.1_Missense_Mutation_p.E210K|IL23R_uc010oqd.1_Missense_Mutation_p.E129K|IL23R_uc010oqe.1_Missense_Mutation_p.E92K|IL23R_uc010oqf.1_Missense_Mutation_p.E92K|IL23R_uc010oqg.1_Missense_Mutation_p.E92K|IL23R_uc010oqh.1_Missense_Mutation_p.E135K|IL23R_uc001dds.2_Missense_Mutation_p.E239K|IL23R_uc001ddt.2_Missense_Mutation_p.E92K	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	494	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						TTTTCTGCCTGAGGGAAGCCA	0.373			NA											30	33					0	0	0.009535	0	0
C1orf173	127254	broad.mit.edu	37	1	75102097	75102097	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:75102097G>C	uc001dgg.2	-	6	689	c.470C>G	c.(469-471)CCA>CGA	p.P157R	C1orf173_uc001dgi.3_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	157										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CATATTTCCTGGAGCAGTATA	0.398			NA											12	196					0	0	0.00245	0	0
USP33	23032	broad.mit.edu	37	1	78189129	78189129	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:78189129C>A	uc001dht.2	-	13	1717	c.1370_splice	c.e13-1	p.A457_splice	USP33_uc001dhs.2_Splice_Site_p.A178_splice|USP33_uc001dhu.2_Splice_Site_p.A426_splice|USP33_uc001dhv.2_Splice_Site_p.A262_splice|USP33_uc001dhw.2_Splice_Site_p.A457_splice	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						GCAGACTGAGCTAGGATTGAA	0.318	Melanoma(152;72 1870 11110 26780 42647)		NA											4	24					0.00024832	0.000280413	0.009096	1	0
TTLL7	79739	broad.mit.edu	37	1	84417625	84417625	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:84417625T>A	uc001djc.2	-	3	456	c.60A>T	c.(58-60)ACA>ACT	p.T20T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	20					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AAGGTAATTCTGTATTCAAAT	0.333			NA											17	55					0	0	0.006122	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178352	90178352	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:90178352G>T	uc001dnl.3	+	3	465	c.223G>T	c.(223-225)GTT>TTT	p.V75F		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	75						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTCTCAAGCAGTTGCCAGTAC	0.478			NA											32	47					7.11191e-15	1.08779e-14	0.013726	1	0
LRRC8D	55144	broad.mit.edu	37	1	90399291	90399291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:90399291G>T	uc001dnm.2	+	3	1089	c.664G>T	c.(664-666)GAG>TAG	p.E222*	LRRC8D_uc001dnn.2_Nonsense_Mutation_p.E222*	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	222						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGAAGACTCAGAGGAAAACAA	0.443			NA											33	50					8.4185e-14	1.26822e-13	0.012213	1	0
DPYD	1806	broad.mit.edu	37	1	98058934	98058934	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:98058934G>T	uc001drv.2	-	10	1105	c.968C>A	c.(967-969)GCC>GAC	p.A323D		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	323					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGTGACAGGCGCACATTCC	0.453			NA											15	54					1.05317e-09	1.47825e-09	0.00245	1	0
COL11A1	1301	broad.mit.edu	37	1	103573670	103573670	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:103573670A>T	uc001dul.2	-	1	383	c.65T>A	c.(64-66)CTC>CAC	p.L22H	COL11A1_uc001dum.2_Missense_Mutation_p.L22H|COL11A1_uc001dun.2_Missense_Mutation_p.L22H|COL11A1_uc009weh.2_Missense_Mutation_p.L22H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	22					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTCAATGCGAGGGTTGTTAC	0.547			NA											9	51					0	0	0.008291	0	0
ATP5F1	515	broad.mit.edu	37	1	111998816	111998816	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:111998816A>G	uc001ebc.2	+	4	753	c.332A>G	c.(331-333)TAT>TGT	p.Y111C	ATP5F1_uc009wgf.1_Missense_Mutation_p.Y258C|ATP5F1_uc001ebd.3_Intron	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	111					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding				0		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAATGGTCTATGGAATTAAA	0.373			NA											5	100					0	0	0.001168	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:115256529T>A	uc009wgu.2	-	3	436	c.182A>T	c.(181-183)CAA>CTA	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458		Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			100	88					0	0	0.00361	0	0
TBX15	6913	broad.mit.edu	37	1	119467342	119467342	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:119467342T>A	uc001ehl.1	-	4	617	c.302A>T	c.(301-303)GAC>GTC	p.D101V		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	207	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CATCCAGGTGTCTCCAGAAGC	0.458			NA											40	139					0	0	0.00874	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561885	145561885	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:145561885C>G	uc001eob.1	+	10	1681	c.1573C>G	c.(1573-1575)CCC>GCC	p.P525A	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P368A	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	525										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGGGACTCCCCGTGCTGA	0.617	Melanoma(9;127 754 22988 51047)		NA											19	258					0	0	0.010504	0	0
ANP32E	81611	broad.mit.edu	37	1	150199078	150199078	+	Silent	SNP	C	C	G	rs144321821		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:150199078C>G	uc001etw.2	-	5	913	c.543G>C	c.(541-543)CCG>CCC	p.P181P	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Silent_p.P133P|ANP32E_uc010pbv.1_Silent_p.P140P|ANP32E_uc001etv.3_Silent_p.P181P|ANP32E_uc010pbw.1_Missense_Mutation_p.R126P	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	181	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			cATATCCTTCCGGTGGACCAG	0.289			NA											16	43					0	0	0.004007	0	0
FLG2	388698	broad.mit.edu	37	1	152326607	152326608	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:152326607_152326608CC>AA	uc001ezw.3	-	3	3727_3728	c.3654_3655GG>TT	c.(3652-3657)TTGGGC>TTTTGC	p.1218_1219LG>FC	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1218_1219	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCCAAGCCAGTTG	0.46			NA											53	147					0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158592846C>T	uc001fst.1	-	43	6246	c.6047G>A	c.(6046-6048)CGC>CAC	p.R2016H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478			NA											117	305					0	0	0.00361	0	0
SPTA1	6708	broad.mit.edu	37	1	158595971	158595971	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158595971C>G	uc001fst.1	-	42	6074	c.5875G>C	c.(5875-5877)GAC>CAC	p.D1959H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1959	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCACCAAGGTCTGCACCATTG	0.423			NA											6	33					0	0	0.004482	0	0
SPTA1	6708	broad.mit.edu	37	1	158617448	158617448	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158617448G>A	uc001fst.1	-	27	3976	c.3777C>T	c.(3775-3777)GAC>GAT	p.D1259D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1259	Spectrin 12.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTCTCTGCAGGTCCTCAGTGG	0.537			NA											4	75					0	0	0.000602	0	0
OR6K6	128371	broad.mit.edu	37	1	158724939	158724939	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158724939T>A	uc001fsw.1	+	1	334	c.334T>A	c.(334-336)TGC>AGC	p.C112S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	112	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					GATGCTGTCCTGCCTAATCAG	0.517			NA											5	120					0	0	0.001168	0	0
OR6N1	128372	broad.mit.edu	37	1	158736121	158736121	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158736121T>C	uc010piq.1	-	1	352	c.352A>G	c.(352-354)ATG>GTG	p.M118V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCGTAGGCCATAGCTGTCAGG	0.507			NA											6	48					0	0	0.001168	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799686	159799686	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:159799686A>T	uc001fue.3	+	2	281	c.71A>T	c.(70-72)CAA>CTA	p.Q24L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	24	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					ACTGGTGCCCAAGTGCTGAGC	0.587			NA											68	127					0	0	0.00361	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518430	161518430	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:161518430A>G	uc001gat.3	-	4	237	c.100T>C	c.(100-102)TGG>CGG	p.W34R	FCGR3A_uc001gar.2_Missense_Mutation_p.W70R|FCGR3A_uc001gas.2_Missense_Mutation_p.W69R|FCGR3A_uc009wuh.2_Missense_Mutation_p.W33R|FCGR3A_uc009wui.2_Missense_Mutation_p.W34R	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	34	Ig-like C2-type 1.|Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCCTGTACCATTGAGGCTCC	0.542			NA											35	117					0	0	0.004289	0	0
GPA33	10223	broad.mit.edu	37	1	167032937	167032937	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:167032937C>A	uc001gea.1	-	4	797	c.453G>T	c.(451-453)GAG>GAT	p.E151D		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	151	Ig-like C2-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						CAATTATGGTCTCTCCCTCGA	0.542			NA											13	181					0.000422831	0.000472895	0.004007	1	0
SELP	6403	broad.mit.edu	37	1	169586542	169586542	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:169586542C>T	uc001ggi.3	-	3	270	c.205G>A	c.(205-207)GCC>ACC	p.A69T	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.A69T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	69	Extracellular (Potential).|C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCTGGATGGCCACTAAGTCT	0.413			NA											56	136					0	0	0.00361	0	0
C1orf112	55732	broad.mit.edu	37	1	169798428	169798428	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:169798428C>G	uc001ggp.2	+	14	1462	c.1152C>G	c.(1150-1152)TTC>TTG	p.F384L	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.F384L|C1orf112_uc009wvt.2_Missense_Mutation_p.F61L|C1orf112_uc010plu.1_Missense_Mutation_p.S312C|C1orf112_uc009wvu.1_Missense_Mutation_p.F260L|C1orf112_uc001ggr.2_Missense_Mutation_p.F249L|C1orf112_uc010plv.1_Missense_Mutation_p.F326L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	384											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCCGTTTTCTACAGTTTTG	0.373			NA											4	54					0	0	0.009096	0	0
TNR	7143	broad.mit.edu	37	1	175372466	175372466	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:175372466C>T	uc001gkp.1	-	2	867	c.786G>A	c.(784-786)AGG>AGA	p.R262R	TNR_uc009wwu.1_Silent_p.R262R|TNR_uc010pmz.1_Silent_p.R262R	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	262	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACCTCAGTTCCCTGCAGTCCT	0.637			NA											13	35					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525707	176525707	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176525707C>A	uc001gkz.2	+	2	1413	c.249C>A	c.(247-249)CCC>CCA	p.P83P	PAPPA2_uc001gky.1_Silent_p.P83P|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	83					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGCCCTACCCCGTGGGGGAGC	0.562			NA											74	151					1.52589e-26	2.53349e-26	0.00361	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564446	176564446	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176564446T>A	uc001gkz.2	+	3	2870	c.1706T>A	c.(1705-1707)GTC>GAC	p.V569D	PAPPA2_uc001gky.1_Missense_Mutation_p.V569D|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	569	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CAGCTGAGCGTCCACCAGGTC	0.572			NA											11	66					0	0	0.008291	0	0
ASTN1	460	broad.mit.edu	37	1	176915133	176915133	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176915133C>A	uc001glc.2	-	13	2390	c.2178G>T	c.(2176-2178)GGG>GGT	p.G726G	ASTN1_uc001glb.1_Silent_p.G726G|ASTN1_uc001gld.1_Silent_p.G726G|ASTN1_uc009wwx.1_Silent_p.G726G	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	734					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGAACATCTCCCCAAAGAGGG	0.502			NA											24	98					1.85244e-09	2.5794e-09	0.00333	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820017	179820017	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:179820017C>A	uc001gnk.2	-	4	904	c.516G>T	c.(514-516)GAG>GAT	p.E172D	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.E172D	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	172						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1						TATCCTCACCCTCTTGCCCTG	0.552			NA											35	81					4.65686e-17	7.26595e-17	0.003755	1	0
QSOX1	5768	broad.mit.edu	37	1	180158700	180158700	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:180158700G>T	uc001gnz.2	+	9	1106	c.1031G>T	c.(1030-1032)CGG>CTG	p.R344L	QSOX1_uc001gny.2_Missense_Mutation_p.R344L|QSOX1_uc001goa.2_Missense_Mutation_p.R344L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	344					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TTCCCTGGCCGGCCCTTAGTC	0.502			NA											10	270					6.40141e-05	7.44523e-05	0.010729	1	0
CACNA1E	777	broad.mit.edu	37	1	181763998	181763998	+	Splice_Site	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:181763998A>T	uc001gow.2	+	45	6064	c.5899_splice	c.e45-2	p.V1967_splice	CACNA1E_uc009wxs.2_Splice_Site_p.V1855_splice|CACNA1E_uc009wxt.2_Splice_Site_p.V1236_splice	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTGTATTTCCAGGTGGTGACA	0.453			NA											8	55					0	0	0.00308	0	0
KCNT2	343450	broad.mit.edu	37	1	196227561	196227561	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196227561G>C	uc001gtd.1	-	26	3034	c.2974C>G	c.(2974-2976)CAC>GAC	p.H992D	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.H925D|KCNT2_uc001gtf.1_Missense_Mutation_p.H968D|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.H496D	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	992	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTGCTGCGGTGGTGCCCTTGT	0.453			NA											39	126					0	0	0.009718	0	0
KCNT2	343450	broad.mit.edu	37	1	196395074	196395074	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196395074C>A	uc001gtd.1	-	11	1089	c.1029G>T	c.(1027-1029)CAG>CAT	p.Q343H	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q343H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q343H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q318H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	343	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CCCTTCGAACCTGTACATCCA	0.373			NA											10	33					0.000978159	0.00107844	0.010729	1	0
PTPRC	5788	broad.mit.edu	37	1	198725263	198725263	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:198725263C>A	uc001gur.1	+	33	4048	c.3868C>A	c.(3868-3870)CAT>AAT	p.H1290N	PTPRC_uc001gus.1_Missense_Mutation_p.H1242N|PTPRC_uc001gut.1_Missense_Mutation_p.H1129N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1290	Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GGGGCCAGAACATTCTGTCAA	0.448			NA											16	18					1.67942e-08	2.27502e-08	0.006122	1	0
SHISA4	149345	broad.mit.edu	37	1	201860534	201860534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:201860534G>T	uc001gxa.2	+	4	476	c.385G>T	c.(385-387)GAG>TAG	p.E129*		NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	shisa homolog 4 precursor	129	Cytoplasmic (Potential).					integral to membrane					0						TCTAGGCCAGGAGATTCCAAT	0.587			NA											41	67					6.61955e-31	1.11228e-30	0.00361	1	0
CNTN2	6900	broad.mit.edu	37	1	205042200	205042201	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:205042200_205042201TG>CT	uc001hbr.2	+	22	3118_3119	c.2849_2850TG>CT	c.(2848-2850)CTG>CCT	p.L950P	CNTN2_uc001hbs.2_Missense_Mutation_p.L738P	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	950	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACAGATGCTGTACCAGAATG	0.54	Melanoma(183;2548 2817 37099 41192)		NA											5	26					0	0	0.004672	0	0
CR1L	1379	broad.mit.edu	37	1	207867945	207867945	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:207867945T>C	uc001hga.3	+	5	832	c.711T>C	c.(709-711)AAT>AAC	p.N237N	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	237	Sushi 4.					cytoplasm|extracellular region|membrane					0						ATGTGGAAAATGGAATATTGG	0.463			NA											91	316					0	0	0.00361	0	0
URB2	9816	broad.mit.edu	37	1	229772435	229772435	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:229772435G>T	uc001hts.1	+	4	2211	c.2075G>T	c.(2074-2076)CGG>CTG	p.R692L	URB2_uc009xfd.1_Missense_Mutation_p.R692L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	692						nucleolus				central_nervous_system(2)|ovary(1)	3						ACTAGTTTCCGGTCTGAAGGA	0.443			NA											131	262					6.47804e-62	1.11806e-61	0.00361	1	0
GGPS1	9453	broad.mit.edu	37	1	235505515	235505515	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:235505515G>T	uc001hwv.2	+	4	415	c.331G>T	c.(331-333)GCA>TCA	p.A111S	GGPS1_uc001hww.2_Missense_Mutation_p.A111S|GGPS1_uc001hwx.2_Missense_Mutation_p.A57S|GGPS1_uc001hwy.2_Missense_Mutation_p.A111S	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1 isoform A	111					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TCACCCAGATGCAGTGAAGCT	0.448			NA											10	41					0.00621372	0.00663113	0.006214	1	0
RYR2	6262	broad.mit.edu	37	1	237711773	237711773	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:237711773G>A	uc001hyl.1	+	26	3069	c.2949G>A	c.(2947-2949)CTG>CTA	p.L983L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	983	Cytoplasmic (By similarity).|2.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATGGACCTGAGCTTTATCA	0.453			NA											15	17					0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237875121	237875121	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:237875121A>T	uc001hyl.1	+	71	10427	c.10307A>T	c.(10306-10308)AAG>ATG	p.K3436M	RYR2_uc010pxz.1_Missense_Mutation_p.K391M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3436					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTGATACCAAGTCAAAGATG	0.303			NA											8	19					0	0	0.006214	0	0
NLRP3	114548	broad.mit.edu	37	1	247587738	247587738	+	Silent	SNP	C	C	T	rs104895401		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247587738C>T	uc001icr.2	+	5	1131	c.993C>T	c.(991-993)CTC>CTT	p.L331L	NLRP3_uc001ics.2_Silent_p.L331L|NLRP3_uc001icu.2_Silent_p.L331L|NLRP3_uc001icw.2_Silent_p.L331L|NLRP3_uc001icv.2_Silent_p.L331L|NLRP3_uc010pyw.1_Silent_p.L329L|NLRP3_uc001ict.1_Silent_p.L329L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	331	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGACATTCTCCTGAGCAGCC	0.582			NA											22	63					0	0	0.012319	0	0
OR2B11	127623	broad.mit.edu	37	1	247614592	247614592	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247614592C>A	uc010pyx.1	-	1	693	c.693G>T	c.(691-693)AGG>AGT	p.R231S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGACTGGATCCTGAGCACTG	0.547			NA											22	81					7.41877e-09	1.01681e-08	0.012319	1	0
OR2B11	127623	broad.mit.edu	37	1	247614655	247614655	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247614655G>A	uc010pyx.1	-	1	630	c.630C>T	c.(628-630)TTC>TTT	p.F210F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCACCAACACGAAGAAGGCCA	0.562			NA											15	57					0	0	0.004007	0	0
OR6F1	343169	broad.mit.edu	37	1	247875162	247875162	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247875162T>A	uc001idj.1	-	1	896	c.896A>T	c.(895-897)GAG>GTG	p.E299V		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGCAGAGTCTCTCTTACTTC	0.428			NA											41	136					0	0	0.010771	0	0
OR14A16	284532	broad.mit.edu	37	1	247978434	247978434	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247978434T>A	uc001idm.1	-	1	598	c.598A>T	c.(598-600)ATT>TTT	p.I200F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTACATTAATAAGGATGAGT	0.393	Ovarian(112;180 1586 15073 21914 33526)		NA											8	52					0	0	0.006214	0	0
OR2W3	343171	broad.mit.edu	37	1	248058993	248058993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:248058993C>A	uc001idp.1	+	3	374	c.105C>A	c.(103-105)TAC>TAA	p.Y35*	OR2W3_uc010pzb.1_Nonsense_Mutation_p.Y35*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATCGCGTACCTCCTGACCC	0.572			NA											39	72					1.42033e-22	2.33054e-22	0.004289	1	0
OR14C36	127066	broad.mit.edu	37	1	248512748	248512748	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:248512748C>A	uc010pzl.1	+	1	672	c.672C>A	c.(670-672)CTC>CTA	p.L224L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CGACCGTGCTCGGGTTTCCAA	0.498			NA											15	79					3.27435e-08	4.40149e-08	0.00245	1	0
PFKP	5214	broad.mit.edu	37	10	3124618	3124618	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:3124618A>G	uc001igp.2	+	2	187	c.151A>G	c.(151-153)ATC>GTC	p.I51V	PFKP_uc001igq.2_Missense_Mutation_p.Y16C|PFKP_uc009xhr.2_Missense_Mutation_p.I13V	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	51					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCGCATGGGTATCTACGTGGG	0.443			NA											13	88					0	0	0.00245	0	0
IL2RA	3559	broad.mit.edu	37	10	6104076	6104076	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:6104076G>A	uc001iiz.1	-	1	198	c.39C>T	c.(37-39)TTC>TTT	p.F13F	IL2RA_uc009xih.1_Silent_p.F13F	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	13					cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCACCATGATGAACGTGAGCA	0.612			NA											5	117					0	0	0.001984	0	0
MCM10	55388	broad.mit.edu	37	10	13239666	13239666	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:13239666C>A	uc001ima.2	+	15	2122	c.2021C>A	c.(2020-2022)ACA>AAA	p.T674K	MCM10_uc001imb.2_Missense_Mutation_p.T673K|MCM10_uc001imc.2_Missense_Mutation_p.T673K	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	674					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CAGGTTCTTACAAAAACAAAC	0.398			NA											8	54					1.06961e-07	1.41068e-07	0.00308	1	0
ITGA8	8516	broad.mit.edu	37	10	15649716	15649716	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:15649716T>A	uc001ioc.1	-	17	1724	c.1724A>T	c.(1723-1725)CAG>CTG	p.Q575L	ITGA8_uc010qcb.1_Missense_Mutation_p.Q560L	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	575	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GTGGGATTTCTGCCTTTTTAT	0.438			NA											7	200					0	0	0.00308	0	0
GPR158	57512	broad.mit.edu	37	10	25886839	25886839	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:25886839C>A	uc001isj.2	+	11	2344	c.2284C>A	c.(2284-2286)CCA>ACA	p.P762T	GPR158_uc001isk.2_Missense_Mutation_p.P137T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	762	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TACGGAGATCCCAGAGACAGT	0.547			NA											16	114					3.52763e-06	4.34122e-06	0.00499	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37486390	37486390	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:37486390G>C	uc001iza.1	+	29	2629	c.2530G>C	c.(2530-2532)GAA>CAA	p.E844Q		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	900						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTGAAGAATGAACAAACATT	0.333			NA											4	57					0	0	0.009096	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305840	38305840	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:38305840G>T	uc001izh.2	+	3	229	c.51G>T	c.(49-51)GTG>GTT	p.V17V	ZNF33A_uc001izg.2_Silent_p.V17V|ZNF33A_uc010qev.1_Silent_p.V24V|ZNF33A_uc001izi.1_Silent_p.V17V|ZNF33A_uc001izj.2_RNA	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	17	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						TTAAAGATGTGACTGTGGGCT	0.468			NA											13	41					6.31663e-08	8.42619e-08	0.003163	1	0
BMS1	9790	broad.mit.edu	37	10	43292409	43292409	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:43292409G>T	uc001jaj.2	+	10	2075	c.1717G>T	c.(1717-1719)GCT>TCT	p.A573S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	573					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAAGAAAGCAGCTCTCCCCAC	0.483			NA											19	38					8.28177e-16	1.28358e-15	0.007413	1	0
GDF10	2662	broad.mit.edu	37	10	48429174	48429174	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:48429174T>A	uc001jfb.2	-	2	1168	c.712A>T	c.(712-714)AGC>TGC	p.S238C	GDF10_uc009xnp.2_Missense_Mutation_p.S237C|GDF10_uc009xnq.1_Missense_Mutation_p.S238C	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	238					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GCATAGGGGCTGGGCCGGGGC	0.667			NA											4	15					0	0	0.000602	0	0
LRRC18	474354	broad.mit.edu	37	10	50121546	50121546	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:50121546C>T	uc001jhd.2	-	1	735	c.655G>A	c.(655-657)GAC>AAC	p.D219N	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.D219N	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	219						cytoplasm				ovary(1)|pancreas(1)	2						TTCAGGTTGTCCCGGGCGTTT	0.498			NA											5	136					0	0	0.000602	0	0
CTNNA3	29119	broad.mit.edu	37	10	69299427	69299427	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:69299427C>A	uc009xpn.1	-	4	416	c.293G>T	c.(292-294)AGT>ATT	p.S98I	CTNNA3_uc001jmw.2_Missense_Mutation_p.S98I|CTNNA3_uc001jmx.3_Missense_Mutation_p.S98I|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.S110I	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	98	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CAGAGCTTCACCTGAAAAATA	0.418			NA											16	33					3.45872e-05	4.0977e-05	0.004007	1	0
ZFYVE27	118813	broad.mit.edu	37	10	99504558	99504558	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:99504558G>A	uc001koo.2	+	4	541	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	ZFYVE27_uc001kon.2_Missense_Mutation_p.R114Q|ZFYVE27_uc001koq.2_Intron|ZFYVE27_uc010qpa.1_Intron|ZFYVE27_uc001kop.2_Missense_Mutation_p.R114Q|ZFYVE27_uc010qpb.1_Missense_Mutation_p.R16Q|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.R82Q|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Missense_Mutation_p.R114Q|ZFYVE27_uc001kom.1_Missense_Mutation_p.R114Q	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	114	Cytoplasmic (Potential).				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GAGGTTTGCCGGGCACGGCTG	0.592			NA											4	47					0	0	0.009096	0	0
NEURL	9148	broad.mit.edu	37	10	105331369	105331369	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:105331369G>C	uc001kxh.2	+	3	849	c.439G>C	c.(439-441)GTG>CTG	p.V147L		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	147	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCCGACCTGGTGTCCCAGAG	0.647			NA											4	33					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108466382	108466382	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:108466382C>A	uc001kym.2	-	8	1162	c.1154G>T	c.(1153-1155)GGA>GTA	p.G385V	SORCS1_uc001kyl.2_Missense_Mutation_p.G385V|SORCS1_uc009xxs.2_Missense_Mutation_p.G385V|SORCS1_uc001kyn.1_Missense_Mutation_p.G385V|SORCS1_uc001kyo.2_Missense_Mutation_p.G385V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	385	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGCCGCCCTCCTGATGTCAG	0.468			NA											7	56					0.00198382	0.0021667	0.001984	1	0
SORCS1	114815	broad.mit.edu	37	10	108489872	108489872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:108489872C>T	uc001kym.2	-	6	968	c.960G>A	c.(958-960)TGG>TGA	p.W320*	SORCS1_uc001kyl.2_Nonsense_Mutation_p.W320*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.W320*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.W320*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.W320*	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	320	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCATCACAGACCTAAAAAATG	0.418			NA											20	38					0	0	0.008871	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633124	111633124	+	Splice_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:111633124C>T	uc001kyp.1	-	16	1463	c.1323_splice	c.e16+1	p.K441_splice	XPNPEP1_uc009xxt.1_Splice_Site_p.K460_splice|XPNPEP1_uc001kyq.1_Splice_Site_p.K370_splice	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTCCACCTTACCTTCTCGTAG	0.408			NA											12	143					0	0	0.001855	0	0
FGFR2	2263	broad.mit.edu	37	10	123279674	123279674	+	Missense_Mutation	SNP	G	G	A	rs77543610		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:123279674G>A	uc010qtk.1	-	7	1405	c.758C>T	c.(757-759)CCT>CTT	p.P253L	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.P138L|FGFR2_uc010qti.1_Missense_Mutation_p.P164L|FGFR2_uc010qtj.1_Missense_Mutation_p.P253L|FGFR2_uc010qtl.1_Missense_Mutation_p.P253L|FGFR2_uc010qtm.1_Missense_Mutation_p.P138L|FGFR2_uc001lfl.3_Missense_Mutation_p.P253L|FGFR2_uc001lfm.2_Missense_Mutation_p.P164L|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.P272L|FGFR2_uc010qto.1_Missense_Mutation_p.P157L|FGFR2_uc001lfo.1_Missense_Mutation_p.P272L|FGFR2_uc010qtp.1_Missense_Mutation_p.P272L|FGFR2_uc001lfg.3_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	253	Extracellular (Potential).		P -> R (in APRS; common mutation).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.P253R(2)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGCCGGTGAGGCGATCGCTC	0.567			5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				5	22					0	0	0.001168	0	0
DOCK1	1793	broad.mit.edu	37	10	129172391	129172391	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:129172391G>A	uc001ljt.2	+	35	3589	c.3525G>A	c.(3523-3525)GTG>GTA	p.V1175V	DOCK1_uc010qun.1_Silent_p.V1196V|DOCK1_uc009yaq.2_Silent_p.V170V	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1175	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACTCGTTGTGCGCTTAATGG	0.423			NA											5	25					0	0	0.001984	0	0
OR52E2	119678	broad.mit.edu	37	11	5080000	5080000	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:5080000T>A	uc010qyw.1	-	1	858	c.858A>T	c.(856-858)CCA>CCT	p.P286P		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATTGAGCATTGGTGGCACCA	0.423			NA											12	25					0	0	0.001855	0	0
HBG2	3048	broad.mit.edu	37	11	5275539	5275539	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:5275539C>A	uc001mai.1	-	2	735	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.D100Y	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	100					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCAGGATCCACATGCAGC	0.502			NA											21	49					4.4004e-07	5.65419e-07	0.00333	1	0
SAAL1	113174	broad.mit.edu	37	11	18113861	18113861	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:18113861A>G	uc001mnq.2	-	4	394	c.344T>C	c.(343-345)GTG>GCG	p.V115A	SAAL1_uc001mnr.2_Missense_Mutation_p.V115A|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.V115A	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	115					acute-phase response	extracellular region	binding				0						TAAAATTCCCACACAGATTTC	0.343			NA											12	29					0	0	0.013537	0	0
NELL1	4745	broad.mit.edu	37	11	20949926	20949926	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:20949926G>A	uc001mqe.2	+	9	1051	c.898G>A	c.(898-900)GGT>AGT	p.G300S	NELL1_uc001mqf.2_Missense_Mutation_p.G300S|NELL1_uc009yid.2_Missense_Mutation_p.G328S|NELL1_uc010rdo.1_Missense_Mutation_p.G243S|NELL1_uc010rdp.1_Missense_Mutation_p.G60S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	300	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TCCTCAGAGTGGTGCCGTGGA	0.522			NA											19	48					0	0	0.002299	0	0
OR4A15	81328	broad.mit.edu	37	11	55136012	55136012	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55136012C>A	uc010rif.1	+	1	653	c.653C>A	c.(652-654)ACC>AAC	p.T218N		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGCTTGCACCAATACCTAT	0.413			NA											14	33					3.45872e-05	4.0977e-05	0.004007	1	0
OR8K5	219453	broad.mit.edu	37	11	55927530	55927530	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55927530A>T	uc010rja.1	-	1	264	c.264T>A	c.(262-264)GAT>GAA	p.D88E		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGTATTTCGATCCACAACAA	0.388			NA											9	49					0	0	0.004482	0	0
OR8K1	390157	broad.mit.edu	37	11	56114132	56114132	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:56114132G>T	uc010rjg.1	+	1	618	c.618G>T	c.(616-618)TTG>TTT	p.L206F		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TAATAATTTTGATCTTCTCAG	0.373			NA								HNSCC(65;0.19)			12	50					3.03607e-14	4.61351e-14	0.013537	1	0
DTX4	23220	broad.mit.edu	37	11	58949516	58949516	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58949516G>T	uc001nns.2	+	2	773	c.516G>T	c.(514-516)CAG>CAT	p.Q172H	DTX4_uc001nnr.2_Missense_Mutation_p.Q66H	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	172					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CTAAGGCTCAGTCCTGGCCAG	0.657			NA											7	44					0.000157383	0.000179756	0.00308	1	0
MPEG1	219972	broad.mit.edu	37	11	58978321	58978321	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58978321G>A	uc001nnu.3	-	1	2174	c.2018C>T	c.(2017-2019)ACC>ATC	p.T673I		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	673	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				GATGGCCAAGGTGATAACAAC	0.552			NA											25	56					0	0	0.00278	0	0
MPEG1	219972	broad.mit.edu	37	11	58980169	58980169	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58980169A>G	uc001nnu.3	-	1	326	c.170T>C	c.(169-171)GTG>GCG	p.V57A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	57	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				TCCCATGTCCACATTCCGCAG	0.478			NA											28	148					0	0	0.004656	0	0
CD6	923	broad.mit.edu	37	11	60785469	60785469	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:60785469C>A	uc001nqq.2	+	11	2044	c.1821C>A	c.(1819-1821)ACC>ACA	p.T607T	CD6_uc001nqp.2_Silent_p.T607T|CD6_uc001nqr.2_Silent_p.T575T|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.T566T	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	607	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TGGCCGGCACCCAGCCAGCCT	0.557	Pancreas(169;904 2017 4767 38890 42505)		NA											13	67					2.23348e-06	2.7829e-06	0.004007	1	0
DAGLA	747	broad.mit.edu	37	11	61511175	61511175	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:61511175G>T	uc001nsa.2	+	20	2454	c.2343G>T	c.(2341-2343)GAG>GAT	p.E781D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	781	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CCACCATGGAGAGCCTCTCGG	0.721			NA											13	44					4.93089e-13	7.33339e-13	0.00245	1	0
SF1	7536	broad.mit.edu	37	11	64536578	64536578	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:64536578G>A	uc001obb.1	-	8	1180	c.803C>T	c.(802-804)TCA>TTA	p.S268L	SF1_uc010rnm.1_5'UTR|SF1_uc010rnn.1_Missense_Mutation_p.S242L|SF1_uc001oaz.1_Missense_Mutation_p.S393L|SF1_uc001oba.1_Missense_Mutation_p.S268L|SF1_uc001obc.1_Missense_Mutation_p.S268L|SF1_uc001obd.1_Missense_Mutation_p.S268L|SF1_uc001obe.1_Missense_Mutation_p.S153L|SF1_uc010rno.1_Missense_Mutation_p.S153L	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	268					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						GCGGGTCTCTGAGCTCTGCCA	0.488			NA											29	119					0	0	0.007291	0	0
SYVN1	84447	broad.mit.edu	37	11	64899785	64899785	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:64899785G>A	uc001odb.2	-	6	559	c.465C>T	c.(463-465)TTC>TTT	p.F155F	SYVN1_uc001odc.2_Silent_p.F155F|SYVN1_uc009yqc.2_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	155	Helical; (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						CGTGGCTGACGAAGAGGAAGT	0.592			NA											20	55					0	0	0.012319	0	0
RIN1	9610	broad.mit.edu	37	11	66102525	66102525	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:66102525C>T	uc001ohn.1	-	6	872	c.745G>A	c.(745-747)GTG>ATG	p.V249M	RIN1_uc010roy.1_Translation_Start_Site|RIN1_uc009yrd.1_Translation_Start_Site|RIN1_uc010roz.1_Missense_Mutation_p.V144M|RIN1_uc010rpa.1_Missense_Mutation_p.V144M	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						TCTGTGGACACGCGCACTTTG	0.672			NA											7	44					0	0	0.001984	0	0
SPTBN2	6712	broad.mit.edu	37	11	66461658	66461658	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:66461658C>A	uc001ojd.2	-	21	4527	c.4455G>T	c.(4453-4455)CAG>CAT	p.Q1485H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1485	Spectrin 11.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGCGAGAAGCCTGCAGGCGCC	0.647			NA									OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	54					2.27111e-07	2.94528e-07	0.013537	1	0
MRGPRF	116535	broad.mit.edu	37	11	68777421	68777421	+	Translation_Start_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:68777421C>T	uc001ooo.3	-	2	316	c.-51G>A	c.(-53--49)GGGTG>GGATG		MRGPRF_uc001oop.3_Translation_Start_Site|uc001ooq.2_5'Flank	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F							integral to membrane|plasma membrane	G-protein coupled receptor activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTCTGCACACCCACCTGGCA	0.672			NA											16	40					0	0	0.003163	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750737	76750737	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:76750737C>A	uc001oxw.2	+	2	230	c.142C>A	c.(142-144)CCA>ACA	p.P48T		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	48	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						GGAGGAGACGCCAGAGGGTCC	0.731			NA									OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0.00116845	0.00128016	0.001168	1	0
FAT3	120114	broad.mit.edu	37	11	92495238	92495238	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:92495238G>T	uc001pdj.3	+	4	3903	c.3886G>T	c.(3886-3888)GTG>TTG	p.V1296L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1296	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTACAGTATTGTGGATGGGAA	0.453			NA								TCGA Ovarian(4;0.039)			23	150					7.87624e-14	1.18909e-13	0.00278	1	0
AMOTL1	154810	broad.mit.edu	37	11	94554901	94554901	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:94554901C>A	uc001pfb.2	+	4	1497	c.1327C>A	c.(1327-1329)CAA>AAA	p.Q443K	AMOTL1_uc001pfc.2_Missense_Mutation_p.Q393K	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	443	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCGAGCCCAGCAAATGGTGGA	0.602			NA											22	126					4.26978e-12	6.23084e-12	0.00333	1	0
MMP27	64066	broad.mit.edu	37	11	102562551	102562551	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:102562551G>A	uc001phd.1	-	10	1511	c.1488C>T	c.(1486-1488)AGC>AGT	p.S496S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	496					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAATAAACAAGCTTAAACTCT	0.284			NA											21	41					0	0	0.008871	0	0
CASP1	834	broad.mit.edu	37	11	104897650	104897650	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:104897650C>A	uc010rve.1	-	8	1052	c.1035G>T	c.(1033-1035)ATG>ATT	p.M345I	CASP1_uc001pig.2_Missense_Mutation_p.M252I|CASP1_uc001pik.2_Missense_Mutation_p.M308I|CASP1_uc010rvf.1_Missense_Mutation_p.M252I|CASP1_uc010rvg.1_Missense_Mutation_p.M324I|CASP1_uc010rvh.1_Missense_Mutation_p.M204I|CASP1_uc010rvi.1_Missense_Mutation_p.M29I|CASP1_uc001pim.3_Missense_Mutation_p.M345I|CASP1_uc009yxi.2_Missense_Mutation_p.M324I|CASP1_uc010rvj.1_Missense_Mutation_p.M345I|CASP1_uc009yxj.2_Missense_Mutation_p.M190I|CASP1_uc010rvk.1_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	345					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAACAGAGCCCATTGTGGGAT	0.398	NSCLC(41;1246 1743 4934)		NA											12	29					5.50884e-06	6.6852e-06	0.013537	1	0
KIAA1826	84437	broad.mit.edu	37	11	105881245	105881245	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:105881245C>A	uc001piy.2	-	2	573	c.400G>T	c.(400-402)GCA>TCA	p.A134S	KIAA1826_uc001piz.2_Missense_Mutation_p.A134S	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	134						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		GATCCACCTGCATCCCTGAAA	0.423			NA											59	48					2.20561e-19	3.54419e-19	0.00361	1	0
FAM55D	54827	broad.mit.edu	37	11	114441811	114441811	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:114441811T>A	uc001ppc.2	-	6	1665	c.1484A>T	c.(1483-1485)CAA>CTA	p.Q495L	FAM55D_uc001ppd.2_Missense_Mutation_p.Q211L	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	495						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GATGAGATATTGAATGTAACC	0.378			NA											18	59					0	0	0.010504	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117985987	117985987	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:117985987A>T	uc010rxo.1	+	11	1435	c.1144A>T	c.(1144-1146)ACC>TCC	p.T382S	TMPRSS4_uc010rxp.1_Missense_Mutation_p.T377S|TMPRSS4_uc010rxq.1_Missense_Mutation_p.T235S|TMPRSS4_uc010rxr.1_Missense_Mutation_p.T357S|TMPRSS4_uc010rxs.1_Missense_Mutation_p.T342S|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Missense_Mutation_p.T357S	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	382	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGTGTGGACACCTGCCAGGT	0.557			NA											8	73					0	0	0.006214	0	0
ARCN1	372	broad.mit.edu	37	11	118463522	118463522	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:118463522G>T	uc001ptq.2	+	7	1244	c.1083G>T	c.(1081-1083)GTG>GTT	p.V361V	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Silent_p.V273V|ARCN1_uc009zag.2_Silent_p.V402V	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACGTAGGGGTGCTAAAGTGGA	0.433			NA											306	173					6.77638e-166	1.17245e-165	0.00361	1	0
ABCG4	64137	broad.mit.edu	37	11	119029413	119029413	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:119029413C>A	uc001pvs.2	+	11	1650	c.1314C>A	c.(1312-1314)GCC>GCA	p.A438A	ABCG4_uc009zar.2_Silent_p.A438A	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	438	Helical; Name=2; (Potential).|ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTTCGCCGCCCTCATGCCAA	0.627			NA											117	59					2.54773e-45	4.36486e-45	0.00361	1	0
POU2F3	25833	broad.mit.edu	37	11	120175760	120175760	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:120175760C>T	uc001pxc.2	+	7	568	c.466C>T	c.(466-468)CCA>TCA	p.P156S	POU2F3_uc010rzk.1_Missense_Mutation_p.P110S|POU2F3_uc010rzl.1_Missense_Mutation_p.P86S|POU2F3_uc001pxe.1_5'Flank	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	156					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCCTGGGCTGCCAGGATCCTC	0.488			NA											45	88					0	0	0.00361	0	0
OR10G9	219870	broad.mit.edu	37	11	123893726	123893726	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:123893726A>T	uc010sad.1	+	1	7	c.7A>T	c.(7-9)AAG>TAG	p.K3*		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGAAATGTCCAAGACCAGCCT	0.517			NA											21	117					0	0	0.010504	0	0
OR8B8	26493	broad.mit.edu	37	11	124310801	124310801	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:124310801A>T	uc010sal.1	-	1	181	c.181T>A	c.(181-183)TTC>ATC	p.F61I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAGGAAGAAGTACATAGGG	0.443			NA											14	50					0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2778097	2778097	+	Splice_Site	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:2778097A>T	uc009zdu.1	+	40	5081	c.4768_splice	c.e40-2	p.R1590_splice	CACNA1C_uc009zdv.1_Splice_Site_p.R1539_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkc.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qke.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R1529_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R1564_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R1531_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R1590_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qko.2_Splice_Site_p.R1562_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R1559_splice|CACNA1C_uc001qku.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R1570_splice|CACNA1C_uc001qks.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R1542_splice|CACNA1C_uc001qki.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkj.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkk.1_Splice_Site_p.R1278_splice|CACNA1C_uc001qkm.1_Splice_Site_p.R1267_splice|CACNA1C_uc010sea.1_Splice_Site_p.R233_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,						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)	CTTCGCCTGCAGCGCCTGGTC	0.502			NA											17	101					0	0	0.004007	0	0
LEPREL2	10536	broad.mit.edu	37	12	6948210	6948210	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:6948210G>A	uc001qra.1	+	16	1986	c.1952G>A	c.(1951-1953)GGT>GAT	p.G651D	LEPREL2_uc001qqz.1_Missense_Mutation_p.G458D|LEPREL2_uc001qrb.1_Missense_Mutation_p.G458D|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	651	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCAGCTCCGGTGTCGAGAAT	0.657			NA											20	25					0	0	0.008871	0	0
ATN1	1822	broad.mit.edu	37	12	7050624	7050624	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:7050624A>C	uc001qrw.1	+	9	3683	c.3446A>C	c.(3445-3447)GAG>GCG	p.E1149A	ATN1_uc001qrx.1_Missense_Mutation_p.E1149A|C12orf57_uc009zfj.1_5'Flank|C12orf57_uc001qrz.2_5'Flank	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	1149					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CAGTCAGCTGAGCTGCAGCGC	0.642			NA											35	34					0	0	0.003755	0	0
A2M	2	broad.mit.edu	37	12	9225370	9225370	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:9225370G>A	uc001qvk.1	-	30	3967	c.3854C>T	c.(3853-3855)ACA>ATA	p.T1285I	A2M_uc001qvj.1_Missense_Mutation_p.T327I|A2M_uc009zgk.1_Missense_Mutation_p.T1135I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1285					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTGGAAAATGTCCCTGAAGA	0.517			NA											6	109					0	0	0.001168	0	0
AEBP2	121536	broad.mit.edu	37	12	19615515	19615515	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:19615515G>A	uc001ref.2	+	2	769	c.743G>A	c.(742-744)GGA>GAA	p.G248E	AEBP2_uc001ree.2_Missense_Mutation_p.G248E|AEBP2_uc001reg.1_Missense_Mutation_p.G19E	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	248	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATGATGAATGGACAAGGAAGC	0.423			NA											17	17					0	0	0.006122	0	0
FAR2	55711	broad.mit.edu	37	12	29474839	29474839	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:29474839G>A	uc001ris.3	+	10	1386	c.1239G>A	c.(1237-1239)CTG>CTA	p.L413L	FAR2_uc001rit.2_Silent_p.L413L|FAR2_uc009zjm.2_Silent_p.L316L	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	413					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TGTCTGAGCTGAGTCCTGAAG	0.403			NA											13	59					0	0	0.001855	0	0
IPO8	10526	broad.mit.edu	37	12	30784831	30784831	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:30784831G>A	uc001rjd.2	-	24	3184	c.3014C>T	c.(3013-3015)GCA>GTA	p.A1005V	IPO8_uc001rje.1_Missense_Mutation_p.A494V|IPO8_uc010sjt.1_Missense_Mutation_p.A800V	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	1005					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGCTGACCTGCCACCGTCCG	0.557			NA											7	58					0	0	0.00308	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135488	31135488	+	Missense_Mutation	SNP	A	A	T	rs148719778	by1000genomes	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:31135488A>T	uc010sju.1	+	6	858	c.478A>T	c.(478-480)AGC>TGC	p.S160C	TSPAN11_uc001rjp.2_Missense_Mutation_p.S160C|TSPAN11_uc010sjv.1_Missense_Mutation_p.S150C	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	160						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAAGCAACAGCTCAGCCGA	0.627			NA											3	49					0	0	0.000602	0	0
SYT10	341359	broad.mit.edu	37	12	33559996	33559996	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:33559996G>C	uc001rll.1	-	3	1102	c.805C>G	c.(805-807)CCT>GCT	p.P269A	SYT10_uc009zju.1_Missense_Mutation_p.P79A	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	269	Cytoplasmic (Potential).|C2 1.					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)					TTCACATAAGGGTCAGAAGTT	0.343			NA											5	41					0	0	0.001984	0	0
NELL2	4753	broad.mit.edu	37	12	44926385	44926385	+	Missense_Mutation	SNP	G	G	T	rs80147310		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:44926385G>T	uc001rog.2	-	16	2378	c.1783C>A	c.(1783-1785)CCA>ACA	p.P595T	NELL2_uc001rof.3_Missense_Mutation_p.P594T|NELL2_uc001roh.2_Missense_Mutation_p.P595T|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.P645T|NELL2_uc010sla.1_Missense_Mutation_p.P618T|NELL2_uc001roi.1_Missense_Mutation_p.P595T|NELL2_uc010slb.1_Missense_Mutation_p.P594T	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	595	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTCCACTTGGTGAAAACATC	0.408			NA											8	41					3.86212e-05	4.52198e-05	0.008291	1	0
KCNH3	23416	broad.mit.edu	37	12	49937199	49937199	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:49937199A>G	uc001ruh.1	+	5	981	c.721A>G	c.(721-723)ACT>GCT	p.T241A	KCNH3_uc010smj.1_Missense_Mutation_p.T181A	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	241	Helical; Name=Segment S1; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TGTGGCTGTCACTGTGCCCTA	0.647			NA											15	28					0	0	0.00245	0	0
FAIM2	23017	broad.mit.edu	37	12	50282944	50282944	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:50282944G>A	uc001rvj.1	-	10	838	c.693C>T	c.(691-693)CTC>CTT	p.L231L	FAIM2_uc001rvi.1_Silent_p.L185L|FAIM2_uc001rvk.1_RNA	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	231	Helical; (Potential).				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)|skin(1)	3						AAAGAGTCATGAGAAGCACGA	0.617			NA											3	10					0	0	0.004672	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282384	52282384	+	Translation_Start_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:52282384C>A	uc001rzf.3	+	2	356	c.-223C>A	c.(-225--221)TTCTG>TTATG		ANKRD33_uc001rzh.3_Missense_Mutation_p.L60M|ANKRD33_uc001rzd.2_Missense_Mutation_p.L60M|ANKRD33_uc001rze.2_Translation_Start_Site|ANKRD33_uc001rzg.3_Translation_Start_Site|ANKRD33_uc001rzi.3_Translation_Start_Site	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1												0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GACTCACCTTCTGGTTCCCTG	0.597			NA											6	71					0.00116845	0.00128016	0.001168	1	0
HOXC10	3226	broad.mit.edu	37	12	54379623	54379623	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:54379623G>T	uc001sen.2	+	1	678	c.580G>T	c.(580-582)GGC>TGC	p.G194C		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	194					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1						TCAGCTGGGGGGCAAAGTGAG	0.642			NA											9	22					3.03607e-14	4.61351e-14	0.013537	1	0
MIP	4284	broad.mit.edu	37	12	56848062	56848062	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:56848062G>T	uc001slh.2	-	1	368	c.336C>A	c.(334-336)GTC>GTA	p.V112V		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	112	Extracellular (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GGTTTCCTCGGACAGCAGGTG	0.602			NA											8	64					0.00448238	0.00482771	0.004482	1	0
ZBTB39	9880	broad.mit.edu	37	12	57396914	57396914	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:57396914C>T	uc001sml.1	-	2	1874	c.1788G>A	c.(1786-1788)CTG>CTA	p.L596L	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						GTTGGCCCTGCAGCGCCAGCT	0.587			NA											13	63					0	0	0.001855	0	0
KCNC2	3747	broad.mit.edu	37	12	75601598	75601598	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:75601598G>C	uc001sxg.1	-	2	710	c.166C>G	c.(166-168)CCG>GCG	p.P56A	KCNC2_uc009zry.2_Missense_Mutation_p.P56A|KCNC2_uc001sxe.2_Missense_Mutation_p.P56A|KCNC2_uc001sxf.2_Missense_Mutation_p.P56A|KCNC2_uc010stw.1_Missense_Mutation_p.P56A	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	56	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ggcggcgacggctgcagcTTG	0.517			NA											3	11					0	0	0.009096	0	0
NAV3	89795	broad.mit.edu	37	12	78334186	78334186	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:78334186G>T	uc001syp.2	+	2	504	c.331G>T	c.(331-333)GTA>TTA	p.V111L	NAV3_uc001syo.2_Missense_Mutation_p.V111L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	111	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TGCAGATGGAGTACTCCTAGC	0.448			NA								HNSCC(70;0.22)			29	40					1.55811e-20	2.52111e-20	0.008361	1	0
CDK17	5128	broad.mit.edu	37	12	96692734	96692734	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:96692734T>C	uc001tep.1	-	7	1117	c.628A>G	c.(628-630)AGA>GGA	p.R210G	CDK17_uc009ztk.2_Missense_Mutation_p.R210G|CDK17_uc010svb.1_Missense_Mutation_p.R157G	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	210	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						AATTTACTTCTTCCTTTATAT	0.308			NA											17	57					0	0	0.006122	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577997	101577997	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:101577997T>A	uc001thz.3	-	8	1357	c.967A>T	c.(967-969)ATG>TTG	p.M323L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	323	Extracellular (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						AAATAAGGCATGAGCTGAAAA	0.378	GBM(60;420 1056 13605 22380 47675)		NA											6	34					0	0	0.001168	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326315	112326315	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:112326315G>A	uc001tta.2	+	11	1252	c.993G>A	c.(991-993)CAG>CAA	p.Q331Q	MAPKAPK5_uc001tsz.2_Silent_p.Q331Q|MAPKAPK5_uc001ttb.2_Silent_p.Q264Q	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	331					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						GAATCCAGCAGGCTCACGCGG	0.498			NA											10	88					0	0	0.008291	0	0
C12orf51	283450	broad.mit.edu	37	12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:112708216C>T	uc009zwc.2	-	5	712	c.694G>A	c.(694-696)GTT>ATT	p.V232I	C12orf51_uc010syk.1_Missense_Mutation_p.V55I|C12orf51_uc001tts.2_Missense_Mutation_p.V55I|C12orf51_uc001ttt.3_Missense_Mutation_p.V55I	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						ATCGCACCAACGTGGTGCAAT	0.448			NA											24	238					0	0	0.004656	0	0
DTX1	1840	broad.mit.edu	37	12	113515322	113515322	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:113515322G>C	uc001tuk.1	+	2	689	c.353G>C	c.(352-354)TGG>TCG	p.W118S		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	118	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGCGGCGCATGGACGGCCTAC	0.632			NA											8	53					0	0	0.008291	0	0
NOS1	4842	broad.mit.edu	37	12	117768467	117768467	+	Silent	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:117768467G>C	uc001twm.1	-	2	1094	c.408C>G	c.(406-408)TCC>TCG	p.S136S		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	136	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGGCTGGTGGGACAGATCCA	0.657	Esophageal Squamous(162;1748 2599 51982 52956)		NA											36	72					0	0	0.005524	0	0
KSR2	283455	broad.mit.edu	37	12	118105377	118105377	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:118105377G>A	uc001two.2	-	5	1041	c.986C>T	c.(985-987)CCG>CTG	p.P329L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	358					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACAGCAGCGGGGAGCGCTG	0.582			NA											3	23					0	0	0.004672	0	0
SIRT4	23409	broad.mit.edu	37	12	120741852	120741852	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:120741852G>T	uc001tyc.2	+	2	508	c.488G>T	c.(487-489)TGC>TTC	p.C163F		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	163	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCACGGATGCATGGACAGG	0.537			NA											4	64					0.00909568	0.00957512	0.009096	1	0
KL	9365	broad.mit.edu	37	13	33628269	33628269	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:33628269G>C	uc001uus.2	+	2	1193	c.1185G>C	c.(1183-1185)AGG>AGC	p.R395S	KL_uc001uur.1_Missense_Mutation_p.R88S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	395	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAACCTGAGGCAACTGCTTT	0.443			NA											28	145					0	0	0.007291	0	0
HTR2A	3356	broad.mit.edu	37	13	47409209	47409209	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:47409209C>A	uc001vbq.2	-	3	1313	c.1179G>T	c.(1177-1179)CGG>CGT	p.R393R	HTR2A_uc001vbr.2_Silent_p.R293R|HTR2A_uc010acr.2_Silent_p.R393R	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	393	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACTGAATATACCGTGAAAAGG	0.418			NA											13	47					5.50884e-06	6.6852e-06	0.013537	1	0
HTR2A	3356	broad.mit.edu	37	13	47466626	47466626	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:47466626A>T	uc001vbq.2	-	2	646	c.512T>A	c.(511-513)CTG>CAG	p.L171Q	HTR2A_uc001vbr.2_Missense_Mutation_p.L71Q|HTR2A_uc010acr.2_Missense_Mutation_p.L171Q	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	171	Helical; Name=3; (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTAGCGGTCCAGCGAGATGGC	0.547			NA											53	182					0	0	0.00361	0	0
LOC647288	647288	broad.mit.edu	37	13	75814465	75814465	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:75814465G>A	uc010ths.1	-	1	53	c.12C>T	c.(10-12)CCC>CCT	p.P4P		NR_027466				Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).												0						GGGTAGCACCGGGCTCCTCCA	0.592			NA											3	27					0	0	0.004672	0	0
CLN5	1203	broad.mit.edu	37	13	77569228	77569228	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:77569228T>G	uc001vkc.2	+	2	379	c.351T>G	c.(349-351)CCT>CCG	p.P117P		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	68					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACCTGATCCTTATTGTCAAG	0.378			NA											6	78					0	0	0.001168	0	0
CLN5	1203	broad.mit.edu	37	13	77569333	77569333	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:77569333A>G	uc001vkc.2	+	2	484	c.456A>G	c.(454-456)GAA>GAG	p.E152E		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	103					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CAGTATGGGAATTTAAATATG	0.383			NA											6	112					0	0	0.001984	0	0
DCT	1638	broad.mit.edu	37	13	95092211	95092211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:95092211C>A	uc001vlv.3	-	8	1928	c.1501G>T	c.(1501-1503)GGA>TGA	p.G501*	DCT_uc010afh.2_Nonsense_Mutation_p.G534*	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	501	Cytoplasmic (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGTGTATATCCTTTTCGAAGT	0.458			NA											7	38					8.12818e-05	9.37558e-05	0.001984	1	0
COL4A1	1282	broad.mit.edu	37	13	110819542	110819542	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:110819542C>T	uc001vqw.3	-	44	4034	c.3912G>A	c.(3910-3912)AAG>AAA	p.K1304K	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1304	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATATCACCCTTAGAGCCTG	0.517			NA											7	199					0	0	0.001984	0	0
RASA3	22821	broad.mit.edu	37	13	114773056	114773056	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:114773056C>A	uc001vui.2	-	18	1826	c.1695G>T	c.(1693-1695)GGG>GGT	p.G565G	RASA3_uc010tkk.1_Silent_p.G533G|RASA3_uc001vuj.2_Silent_p.G182G	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	565					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGTCTCTTCTCCCCGAGGACG	0.363			NA											9	38					2.17888e-05	2.59904e-05	0.006214	1	0
POTEG	404785	broad.mit.edu	37	14	19563437	19563437	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:19563437G>T	uc001vuz.1	+	5	1003	c.951G>T	c.(949-951)TCG>TCT	p.S317S	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	317	ANK 5.									ovary(1)	1						GTTGTGGATCGGCAAGTATAG	0.358			NA											11	72					1.5739e-10	2.23609e-10	0.004007	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216191	20216191	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:20216191C>A	uc010tkt.1	+	1	605	c.605C>A	c.(604-606)GCC>GAC	p.A202D		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	202	Helical; Name=5; (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)		CTGGTGATAGCCAACAGTGGT	0.498			NA											13	31					0.00010058	0.000115634	0.013537	1	0
TGM1	7051	broad.mit.edu	37	14	24727494	24727494	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:24727494T>A	uc001wod.2	-	9	1523	c.1399A>T	c.(1399-1401)AGT>TGT	p.S467C	TGM1_uc010tog.1_Missense_Mutation_p.S25C	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	467					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCTTACCACTGCTAGTCTCT	0.617			NA											3	30					0	0	0.004672	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884816	24884816	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:24884816C>T	uc001wpf.3	+	9	4179	c.3861C>T	c.(3859-3861)CCC>CCT	p.P1287P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1287					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGCTCACCCCCGCGGCCTCCA	0.622			NA											11	121					0	0	0.008291	0	0
GZMH	2999	broad.mit.edu	37	14	25076845	25076845	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:25076845G>C	uc001wpr.1	-	3	357	c.312C>G	c.(310-312)AAC>AAG	p.N104K	GZMH_uc010aly.1_Missense_Mutation_p.N104K|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	104	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CGTTGGAGAAGTTCTTAGGAT	0.537			NA											6	173					0	0	0.00333	0	0
PRKD1	5587	broad.mit.edu	37	14	30135337	30135337	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:30135337C>T	uc001wqh.2	-	3	662	c.481G>A	c.(481-483)GAT>AAT	p.D161N		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	161	Phorbol-ester/DAG-type 1.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCACAGTGATCACAGAAAGCT	0.408			NA											13	88					0	0	0.004007	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774347	31774347	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:31774347T>A	uc001wrf.3	-	26	4201	c.4124A>T	c.(4123-4125)GAG>GTG	p.E1375V	HEATR5A_uc010ami.2_Missense_Mutation_p.E1273V	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1662							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTCTCCAAACTCTGGCAGAGT	0.438			NA											17	45					0	0	0.004007	0	0
SEC23A	10484	broad.mit.edu	37	14	39543704	39543704	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:39543704T>C	uc001wup.1	-	9	1241	c.1018A>G	c.(1018-1020)ACA>GCA	p.T340A	SEC23A_uc010tqa.1_Missense_Mutation_p.T202A|SEC23A_uc010tqb.1_Missense_Mutation_p.T311A|SEC23A_uc010tqc.1_Missense_Mutation_p.T202A	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	340					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGGCCAGTTGTAGCAGCTCGA	0.338			NA											71	61					0	0	0.00361	0	0
HSPA2	3306	broad.mit.edu	37	14	65008744	65008744	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:65008744G>T	uc001xhj.2	+	2	1253	c.1177G>T	c.(1177-1179)GAC>TAC	p.D393Y	HSPA2_uc001xhk.3_Missense_Mutation_p.D393Y	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	393					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAATGTGCAGGACCTGCTGCT	0.612	Pancreas(136;1211 1835 24894 31984 38227)		NA											11	43					3.07112e-06	3.79278e-06	0.010729	1	0
DCAF5	8816	broad.mit.edu	37	14	69521308	69521308	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:69521308T>G	uc001xkp.2	-	9	2314	c.2095A>C	c.(2095-2097)AAA>CAA	p.K699Q	DCAF5_uc001xkq.2_Missense_Mutation_p.K698Q	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	699						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGGTTGTCTTTGTGGCTGGTT	0.537			NA											7	145					0	0	0.001984	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73440837	73440837	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:73440837G>A	uc001xnm.2	-	11	2692	c.2052C>T	c.(2050-2052)GCC>GCT	p.A684A	ZFYVE1_uc001xnl.2_Silent_p.A269A|ZFYVE1_uc010arj.2_Silent_p.A670A	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	684						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTTCTGCACGGCCTCGCCCA	0.557			NA											9	61					0	0	0.006214	0	0
DNAL1	83544	broad.mit.edu	37	14	74125618	74125618	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:74125618A>G	uc001xoq.3	+	3	276	c.111A>G	c.(109-111)ATA>ATG	p.I37M	DNAL1_uc010aru.2_Translation_Start_Site|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	37											0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTCCCCCTATAGAGAAGATGG	0.398			NA											57	211					0	0	0.00361	0	0
FOXN3	1112	broad.mit.edu	37	14	89647103	89647103	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:89647103G>C	uc001xxo.3	-	6	996	c.859C>G	c.(859-861)CTG>GTG	p.L287V	FOXN3_uc001xxn.3_Missense_Mutation_p.L265V|FOXN3_uc010atk.2_Missense_Mutation_p.L265V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	287					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						CCAGGAAACAGCCCTCGGCTC	0.592			NA											9	12					0	0	0.010729	0	0
BTBD7	55727	broad.mit.edu	37	14	93709128	93709128	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:93709128T>G	uc001ybo.2	-	11	3216	c.2890A>C	c.(2890-2892)ACC>CCC	p.T964P	BTBD7_uc010aur.2_Missense_Mutation_p.T489P|BTBD7_uc010two.1_Missense_Mutation_p.T784P|BTBD7_uc001ybp.2_Missense_Mutation_p.T613P	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	964										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGGGAAGGGGTGCGTCTGCTG	0.488			NA											29	45					0	0	0.009535	0	0
GABRB3	2562	broad.mit.edu	37	15	26866615	26866615	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:26866615G>T	uc001zaz.2	-	4	449	c.307C>A	c.(307-309)CCT>ACT	p.P103T	GABRB3_uc010uae.1_Missense_Mutation_p.P18T|GABRB3_uc001zba.2_Missense_Mutation_p.P103T|GABRB3_uc001zbb.2_Missense_Mutation_p.P159T|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	103	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTTGAGAGGGATCCCAGAA	0.418			NA											17	55					5.35267e-07	6.84006e-07	0.007413	1	0
GABRA5	2558	broad.mit.edu	37	15	27182439	27182439	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:27182439C>A	uc001zbd.1	+	9	1027	c.688C>A	c.(688-690)CAG>AAG	p.Q230K	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	230	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTGATGGGGCAGACGGTGGG	0.607			NA											3	22					0.00909568	0.00957512	0.009096	1	0
HERC2	8924	broad.mit.edu	37	15	28474639	28474639	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:28474639C>A	uc001zbj.2	-	33	5193	c.5087G>T	c.(5086-5088)TGG>TTG	p.W1696L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1696					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGTCTTTGCCATCCACAAAA	0.388			NA											14	81					1.36491e-13	2.05177e-13	0.001855	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42374529	42374529	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:42374529A>G	uc001zox.2	-	9	826	c.731T>C	c.(730-732)CTG>CCG	p.L244P		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	244					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAAGGGCCTCAGGGGCACAGT	0.438			NA											3	58					0	0	0.004672	0	0
SLC12A1	6557	broad.mit.edu	37	15	48551398	48551399	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:48551398_48551399CC>AA	uc001zwn.3	+	17	2260_2261	c.2044_2045CC>AA	c.(2044-2046)CCC>AAC	p.P682N	SLC12A1_uc010uew.1_Missense_Mutation_p.P488N|SLC12A1_uc010bem.2_Missense_Mutation_p.P682N|SLC12A1_uc001zwq.3_Missense_Mutation_p.P453N|SLC12A1_uc001zwr.3_Missense_Mutation_p.P409N	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	682					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TACTTCCAGGCCCCAGTGCATT	0.48			NA											8	81					0	0	0.004672	0	0
CEP152	22995	broad.mit.edu	37	15	49036530	49036530	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:49036530C>A	uc001zwy.2	-	23	3608	c.3574G>T	c.(3574-3576)GCA>TCA	p.A1192S	CEP152_uc001zwz.2_Missense_Mutation_p.A1248S|CEP152_uc001zxa.1_Missense_Mutation_p.A1155S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1192					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATGGCCCCTGCTGACAATGAC	0.328			NA											6	30					8.12818e-05	9.37558e-05	0.001984	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58253451	58253451	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:58253451C>A	uc002aex.2	-	11	1351	c.1293G>T	c.(1291-1293)ATG>ATT	p.M431I	ALDH1A2_uc002aey.2_Missense_Mutation_p.M393I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.M410I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.M402I|ALDH1A2_uc002aew.2_Missense_Mutation_p.M335I	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	431					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAACTTCATCCATCGTCTTAA	0.413			NA											3	32					0.00024832	0.000280413	0.009096	1	0
CORO2B	10391	broad.mit.edu	37	15	69007578	69007578	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:69007578G>A	uc002arj.3	+	8	924	c.895G>A	c.(895-897)GAG>AAG	p.E299K	CORO2B_uc010bic.2_Missense_Mutation_p.E294K|CORO2B_uc002ark.2_Missense_Mutation_p.E66K	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	299	WD 5.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CCGGTACTACGAGATCAGCAC	0.617			NA											6	115					0	0	0.001168	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557766	75557766	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:75557766G>A	uc002azs.1	+	9	800	c.723_splice	c.e9+1	p.E241_splice	uc002azt.1_5'Flank	NM_001145224	NP_001138696	A6NDK9	GOG6C_HUMAN	golgi autoantigen, golgin subfamily a, 6D											ovary(1)	1						GTCGGTGGAGGTGAGGTCTGA	0.413			NA											8	78					0	0	0.00308	0	0
Unknown	0	broad.mit.edu	37	15	75595021	75595021	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:75595021C>T	uc002azx.1	-	1	286	c.36G>A	c.(34-36)CTG>CTA	p.L12L						SubName: Full=Putative uncharacterized protein DNM1P33;												NA						ACGAAGGCATCAGGGCGGCCA	0.612			NA											3	10					0	0	0.004672	0	0
C15orf27	123591	broad.mit.edu	37	15	76496577	76496577	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:76496577C>A	uc002bbq.2	+	11	1672	c.1517C>A	c.(1516-1518)CCC>CAC	p.P506H	C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Missense_Mutation_p.P322H|C15orf27_uc002bbs.2_Missense_Mutation_p.P184H	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	506						integral to membrane					0						CACTTCCAGCCCACTGTGCCC	0.552			NA											19	101					5.35267e-07	6.84006e-07	0.007413	1	0
SH2D7	646892	broad.mit.edu	37	15	78390402	78390403	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:78390402_78390403CC>AA	uc010blb.1	+	3	398_399	c.398_399CC>AA	c.(397-399)CCC>CAA	p.P133Q		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	133	SH2.										0						CAGCTCGAGCCCTTCAAAGAGA	0.624			NA											3	18					0	0	0.004672	0	0
BNC1	646	broad.mit.edu	37	15	83926469	83926469	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:83926469C>T	uc002bjt.1	-	5	2798	c.2710G>A	c.(2710-2712)GAT>AAT	p.D904N	BNC1_uc010uos.1_Missense_Mutation_p.D892N	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	904					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGGTACTCATCTTCCCCAGGG	0.547			NA											34	205					0	0	0.004289	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611461	84611461	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:84611461G>T	uc002bjz.3	+	18	2455	c.2231G>T	c.(2230-2232)CGA>CTA	p.R744L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R744L|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R744L	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	744	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGAGTGCCGAGATGAAAAG	0.582			NA											17	41					1.02788e-11	1.49374e-11	0.00499	1	0
AGBL1	123624	broad.mit.edu	37	15	86940733	86940733	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:86940733C>G	uc002blz.1	+	17	2453	c.2373C>G	c.(2371-2373)TTC>TTG	p.F791L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	791					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACTTCATCTTCAAGATCATAC	0.512			NA											3	71					0	0	0.004672	0	0
NTRK3	4916	broad.mit.edu	37	15	88678345	88678345	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:88678345C>A	uc002bme.1	-	9	1353	c.1191G>T	c.(1189-1191)AAG>AAT	p.K397N	NTRK3_uc002bmh.2_Missense_Mutation_p.K397N|NTRK3_uc002bmf.1_Missense_Mutation_p.K397N|NTRK3_uc010upl.1_Missense_Mutation_p.K299N|NTRK3_uc010bnh.1_Missense_Mutation_p.K397N|NTRK3_uc002bmg.2_Missense_Mutation_p.K397N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	397	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAAGGGCTCCTTGAGGAAGT	0.527			NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			15	92					1.33834e-09	1.87099e-09	0.007413	1	0
NTRK3	4916	broad.mit.edu	37	15	88678354	88678354	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:88678354G>T	uc002bme.1	-	9	1344	c.1182C>A	c.(1180-1182)CAC>CAA	p.H394Q	NTRK3_uc002bmh.2_Missense_Mutation_p.H394Q|NTRK3_uc002bmf.1_Missense_Mutation_p.H394Q|NTRK3_uc010upl.1_Missense_Mutation_p.H296Q|NTRK3_uc010bnh.1_Missense_Mutation_p.H394Q|NTRK3_uc002bmg.2_Missense_Mutation_p.H394Q	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	394	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTGAGGAAGTGGCCATTGA	0.537			NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			17	95					1.33834e-09	1.87099e-09	0.007413	1	0
AP3S2	10239	broad.mit.edu	37	15	90447054	90447054	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:90447054C>A	uc002bos.3	-	4	618	c.463G>T	c.(463-465)GGG>TGG	p.G155W	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.G155W	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ACCCCGGCCCCCAGCTCGAGT	0.642			NA											12	77					2.27111e-07	2.94528e-07	0.013537	1	0
LMF1	64788	broad.mit.edu	37	16	929612	929612	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:929612C>A	uc002ckj.2	-	6	859	c.855G>T	c.(853-855)CGG>CGT	p.R285R	LMF1_uc010brh.2_Silent_p.R68R|LMF1_uc010bri.2_Silent_p.R48R|LMF1_uc002ckk.2_Silent_p.R68R|LMF1_uc010uuu.1_RNA	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	285	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				TGCACGCCCGCCGGCCGAGGA	0.662			NA											4	18					1.23904e-05	1.49069e-05	0.000602	1	0
ERCC4	2072	broad.mit.edu	37	16	14028125	14028125	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:14028125A>T	uc002dce.2	+	7	1188	c.1179A>T	c.(1177-1179)GCA>GCT	p.A393A	ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	393					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						AAATTGAGGCAGAAAATAAGG	0.368			NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				40	115					0	0	0.00874	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883228	19883228	+	Missense_Mutation	SNP	T	T	A	rs145563587	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:19883228T>A	uc002dgt.2	-	2	1048	c.940A>T	c.(940-942)AGG>TGG	p.R314W	GPRC5B_uc010vav.1_Missense_Mutation_p.R340W	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	314	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						TCCCGCATCCTGGGCTGCGAC	0.597			NA											35	38					0	0	0.013726	0	0
UMOD	7369	broad.mit.edu	37	16	20352615	20352615	+	Missense_Mutation	SNP	G	G	A	rs139607138	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:20352615G>A	uc002dgz.2	-	7	1504	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	UMOD_uc002dha.2_Missense_Mutation_p.R459W|UMOD_uc002dhb.2_Missense_Mutation_p.R492W	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						AGCGCCATCCGCACGGTGAAC	0.597			NA											4	34					0	0	0.001168	0	0
OTOA	146183	broad.mit.edu	37	16	21737885	21737885	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:21737885C>A	uc002djh.2	+	18	1923	c.1922C>A	c.(1921-1923)CCC>CAC	p.P641H	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.P562H|OTOA_uc002dji.2_Missense_Mutation_p.P317H|OTOA_uc010vbk.1_Missense_Mutation_p.P289H	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	655					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CAGTGTGTGCCCTTTCTGATC	0.552			NA											23	123					6.12954e-19	9.80445e-19	0.004656	1	0
CACNG3	10368	broad.mit.edu	37	16	24366154	24366154	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:24366154G>A	uc002dmf.2	+	3	1496	c.296G>A	c.(295-297)CGA>CAA	p.R99Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CTCTCCGCAGGAGCTGTGAGG	0.637			NA											11	57					0	0	0.013537	0	0
GSG1L	146395	broad.mit.edu	37	16	27802775	27802775	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:27802775G>T	uc002doz.2	-	7	997	c.912C>A	c.(910-912)CAC>CAA	p.H304Q	GSG1L_uc010bya.1_Missense_Mutation_p.H253Q|GSG1L_uc010bxz.1_Missense_Mutation_p.H167Q|GSG1L_uc002doy.2_Missense_Mutation_p.H149Q	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	304						integral to membrane				ovary(1)	1						AATCCGCCATGTGTGGCTGGT	0.627			NA											11	25					1.58986e-06	1.9916e-06	0.008291	1	0
TUFM	7284	broad.mit.edu	37	16	28856035	28856035	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:28856035G>A	uc002drh.2	-	5	807	c.668C>T	c.(667-669)GCT>GTT	p.A223V	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	220						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						GGCACAGAGAGCAGAGCCTAC	0.607			NA											4	59					0	0	0.009096	0	0
CORO1A	11151	broad.mit.edu	37	16	30199766	30199766	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:30199766G>A	uc002dww.2	+	10	1272	c.1150G>A	c.(1150-1152)GAT>AAT	p.D384N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.D384N|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.D278N|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	384					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						GGGGGGTCGGGATGCTGGGCC	0.697			NA											12	79					0	0	0.010729	0	0
ZNF423	23090	broad.mit.edu	37	16	49670063	49670063	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:49670063C>A	uc002efs.2	-	5	3298	c.3000G>T	c.(2998-3000)GAG>GAT	p.E1000D	ZNF423_uc010vgn.1_Missense_Mutation_p.E883D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1000					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TAAACTCCTCCTCGCTCTGCA	0.597			NA											3	24					0.004672	0.00500111	0.004672	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686885	53686885	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:53686885T>G	uc002ehp.2	-	15	1778	c.1714A>C	c.(1714-1716)ATT>CTT	p.I572L	RPGRIP1L_uc002eho.3_Missense_Mutation_p.I572L|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.I572L|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.I572L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.I572L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	572					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CCATAGGCAATATCCTTTAAT	0.368			NA											5	64					0	0	0.000602	0	0
GINS3	64785	broad.mit.edu	37	16	58437222	58437222	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:58437222A>T	uc002enh.3	+	2	615	c.407A>T	c.(406-408)CAG>CTG	p.Q136L	GINS3_uc010cdj.2_Missense_Mutation_p.Q175L|GINS3_uc002enj.3_Intron|GINS3_uc002eni.3_Missense_Mutation_p.Q136L	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	136					DNA replication	nucleus					0						GACATTTCCCAGTCTCTGCTG	0.517			NA											5	21					0	0	0.000602	0	0
DUS2L	54920	broad.mit.edu	37	16	68104916	68104916	+	Missense_Mutation	SNP	G	G	T	rs150098325		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:68104916G>T	uc002evi.2	+	12	864	c.715G>T	c.(715-717)GTG>TTG	p.V239L	DUS2L_uc002evj.2_Missense_Mutation_p.V239L|DUS2L_uc010vkk.1_Missense_Mutation_p.V204L|DUS2L_uc010cez.2_Missense_Mutation_p.V152L	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	239					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGCCTCTTCCGTGATGGTGGC	0.542			NA											16	63					8.28177e-16	1.28358e-15	0.007413	1	0
HYDIN	54768	broad.mit.edu	37	16	70975570	70975570	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:70975570C>A	uc002ezr.2	-	43	6947	c.6819G>T	c.(6817-6819)AAG>AAT	p.K2273N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2274	Potential.									ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TCTCCTGGGCCTTCATGGCTG	0.532			NA											20	142					1.55795e-14	2.37774e-14	0.012319	1	0
HYDIN	54768	broad.mit.edu	37	16	71007878	71007878	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:71007878T>A	uc002ezr.2	-	34	5208	c.5080A>T	c.(5080-5082)ACC>TCC	p.T1694S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1695										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GTTGGAATGGTCACCTTGGCT	0.483			NA											9	54					0	0	0.00499	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389879	77389879	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:77389879G>A	uc002ffc.3	-	9	1837	c.1418C>T	c.(1417-1419)TCA>TTA	p.S473L	ADAMTS18_uc010chc.1_Missense_Mutation_p.S61L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S169L|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	473	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGAAGACCATGAAAACACTCC	0.473			NA											11	40					0	0	0.008291	0	0
CDH13	1012	broad.mit.edu	37	16	83813620	83813620	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:83813620G>A	uc002fgx.2	+	12	1849	c.1729G>A	c.(1729-1731)GAC>AAC	p.D577N	CDH13_uc010vns.1_Missense_Mutation_p.D624N|CDH13_uc010vnt.1_Missense_Mutation_p.D323N|CDH13_uc010vnu.1_Missense_Mutation_p.D538N	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	577	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AACCCTGGAGGACGTGAATGA	0.488			NA											9	30					0	0	0.010729	0	0
TAF1C	9013	broad.mit.edu	37	16	84215065	84215065	+	Missense_Mutation	SNP	G	G	A	rs138550395		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:84215065G>A	uc002fhn.2	-	10	1339	c.1111C>T	c.(1111-1113)CGG>TGG	p.R371W	TAF1C_uc002fhm.2_Missense_Mutation_p.R278W|TAF1C_uc010vnx.1_Missense_Mutation_p.R345W|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Missense_Mutation_p.R39W|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Missense_Mutation_p.R39W|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_3'UTR	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	371					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						TAGATTTGCCGCAGCCTTGGG	0.637			NA											10	26					0	0	0.006214	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84914128	84914128	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:84914128G>C	uc010voh.1	+	13	1470	c.1243G>C	c.(1243-1245)GCA>CCA	p.A415P	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.A414P|CRISPLD2_uc002fin.3_Missense_Mutation_p.A415P	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	415	LCCL 2.					extracellular region|transport vesicle					0						CCATTGTCCGGCACACTGCAA	0.433			NA											37	147					0	0	0.00874	0	0
FOXC2	2303	broad.mit.edu	37	16	86601062	86601062	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:86601062T>C	uc002fjq.2	+	1	206	c.121T>C	c.(121-123)TAT>CAT	p.Y41H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	41					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						CATGGGCGTCTATTCCGGCCA	0.701			NA							Late-onset_Hereditary_Lymphedema				10	17					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:7578455C>G	uc002gim.2	-	5	669	c.475G>C	c.(475-477)GCC>CCC	p.A159P	TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCCATGGCGCGGACGCGG	0.627	Pancreas(47;798 1329 9957 10801)		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	29					0	0	0.007291	0	0
DNAH9	1770	broad.mit.edu	37	17	11584038	11584038	+	Splice_Site	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:11584038A>G	uc002gne.2	+	19	3645	c.3577_splice	c.e19-2	p.E1193_splice	DNAH9_uc010coo.2_Splice_Site_p.E487_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2						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)		TTTCCTTTGCAGGAGCTGCCT	0.522			NA											3	15					0	0	0.009096	0	0
MYOCD	93649	broad.mit.edu	37	17	12656601	12656601	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:12656601G>T	uc002gnn.2	+	10	2295	c.1996G>T	c.(1996-1998)GGG>TGG	p.G666W	MYOCD_uc002gno.2_Missense_Mutation_p.G666W|MYOCD_uc002gnp.1_Missense_Mutation_p.G570W|MYOCD_uc002gnq.2_Missense_Mutation_p.G385W	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	666					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATCCTCCGGGGCCCAGGG	0.607			NA											11	71					1.5842e-08	2.15021e-08	0.001855	1	0
TNFRSF13B	23495	broad.mit.edu	37	17	16875341	16875341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:16875341G>A	uc002gqs.1	-	1	62	c.49C>T	c.(49-51)CAG>TAG	p.Q17*	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Nonsense_Mutation_p.Q17*|TNFRSF13B_uc010vwu.1_Nonsense_Mutation_p.Q17*	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	17	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						CGCTCCTCCTGGTCCACACGG	0.622			NA							IgA_Deficiency_Selective				25	28					0	0	0.003954	0	0
C17orf103	256302	broad.mit.edu	37	17	21146659	21146659	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:21146659G>A	uc010vzx.1	-	4	311	c.309C>T	c.(307-309)CCC>CCT	p.P103P		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	transcript expressed during hematopoiesis 2	103											0						ACTGCGGCAGGGGGTTCTCCT	0.672			NA											3	49					0	0	0.000602	0	0
Unknown	0	broad.mit.edu	37	17	21730961	21730961	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:21730961C>A	uc002gyy.3	+	2	388	c.263C>A	c.(262-264)ACC>AAC	p.T88N						SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;												NA						ACCGGCAAGACCATCACCCTG	0.532			NA											3	27					0.00024832	0.000280413	0.009096	1	0
NOS2	4843	broad.mit.edu	37	17	26109073	26109073	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:26109073G>T	uc002gzu.2	-	7	954	c.690C>A	c.(688-690)CAC>CAA	p.H230Q	NOS2_uc010crh.1_Missense_Mutation_p.H230Q|NOS2_uc010wab.1_Missense_Mutation_p.H230Q	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	230					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGTAACGCACGTGTCTGCAGA	0.547			NA											5	18					5.9392e-07	7.57573e-07	0.001168	1	0
EFCAB5	374786	broad.mit.edu	37	17	28380882	28380882	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:28380882G>T	uc002het.2	+	10	2102	c.1910G>T	c.(1909-1911)GGA>GTA	p.G637V	EFCAB5_uc010wbi.1_Missense_Mutation_p.G380V|EFCAB5_uc010wbj.1_Missense_Mutation_p.G581V|EFCAB5_uc010wbk.1_Missense_Mutation_p.G294V|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.G516V|EFCAB5_uc010csf.2_Missense_Mutation_p.G516V	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	637							calcium ion binding			ovary(1)|skin(1)	2						GCAGAACAGGGATCACTCAGA	0.443			NA											6	98					3.59834e-05	4.23441e-05	0.001168	1	0
MED1	5469	broad.mit.edu	37	17	37566045	37566045	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:37566045G>T	uc002hrv.3	-	17	2641	c.2429C>A	c.(2428-2430)TCT>TAT	p.S810Y	MED1_uc010wee.1_Missense_Mutation_p.S638Y|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	810	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGAGCTTGAAGAATCTCGAAG	0.433	Pancreas(21;279 768 2492 4877 24026)		NA								HNSCC(31;0.082)			16	128					3.45872e-05	4.0977e-05	0.004007	1	0
KRT31	3881	broad.mit.edu	37	17	39553533	39553533	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:39553533G>T	uc002hwn.2	-	1	312	c.259C>A	c.(259-261)CTC>ATC	p.L87I	KRT31_uc010cxn.2_Missense_Mutation_p.L87I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	87	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				TCCCGGATGAGGTTCTCCAGC	0.587			NA											13	70					1.5842e-08	2.15021e-08	0.001855	1	0
FMNL1	752	broad.mit.edu	37	17	43323889	43323889	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:43323889T>G	uc002iin.2	+	26	3429	c.3229T>G	c.(3229-3231)TTC>GTC	p.F1077V	FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GACGGTGCCCTTCACGGCCCG	0.587	GBM(164;1247 1997 8702 11086 51972)		NA									OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	0.000602	0	0
KPNB1	3837	broad.mit.edu	37	17	45748181	45748181	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:45748181C>T	uc002ilt.1	+	12	1866	c.1530C>T	c.(1528-1530)CTC>CTT	p.L510L	KPNB1_uc010wkw.1_Silent_p.L365L|KPNB1_uc010wkx.1_Silent_p.L294L	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	510					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTCAGAAGCTCCTAGAGACTA	0.418			NA											14	129					0	0	0.00245	0	0
MPO	4353	broad.mit.edu	37	17	56355387	56355387	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:56355387G>A	uc002ivu.1	-	7	1182	c.1005C>T	c.(1003-1005)TCC>TCT	p.S335S		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	335					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	CGTCCACGAAGGAAGTGAGCG	0.637			NA											11	76					0	0	0.008291	0	0
C17orf71	55181	broad.mit.edu	37	17	57289749	57289749	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:57289749A>C	uc002ixi.2	+	2	1849	c.1807A>C	c.(1807-1809)AGC>CGC	p.S603R		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	603					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATATCACAATAGCCGAGCTCG	0.413			NA											35	105					0	0	0.003755	0	0
DDX42	11325	broad.mit.edu	37	17	61890703	61890703	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:61890703G>T	uc002jbu.2	+	16	2048	c.1791G>T	c.(1789-1791)GTG>GTT	p.V597V	DDX42_uc002jbv.2_Silent_p.V597V|DDX42_uc002jbw.1_Silent_p.V333V|DDX42_uc002jbx.2_Silent_p.V333V|DDX42_uc002jby.2_Silent_p.V143V|DDX42_uc010wps.1_5'Flank	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	597	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						AGAAAGGTGTGGCCTATACCC	0.488			NA											7	101					0.00307968	0.00334789	0.00308	1	0
SCN4A	6329	broad.mit.edu	37	17	62049725	62049725	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:62049725C>A	uc002jds.1	-	2	456	c.379G>T	c.(379-381)GTG>TTG	p.V127L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	127					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TGGATGAGCACCTTGATGGCC	0.617			NA											9	32					0.000274275	0.000308229	0.004482	1	0
C17orf95	124512	broad.mit.edu	37	17	74729667	74729667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:74729667G>T	uc002jsr.2	+	5	804	c.472G>T	c.(472-474)GAG>TAG	p.E158*	C17orf95_uc002jsp.2_3'UTR|C17orf95_uc002jsq.2_RNA|C17orf95_uc002jss.2_3'UTR|C17orf95_uc002jst.2_Nonsense_Mutation_p.E91*|C17orf95_uc002jsu.2_RNA|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank	NM_001080510	NP_001073979	Q86XA0	MET23_HUMAN	hypothetical protein LOC124512	158						integral to membrane	methyltransferase activity				0						CATTCCTCTTGAGTCTTTTGA	0.383			NA											51	164					5.57489e-27	9.30036e-27	0.00361	1	0
USP36	57602	broad.mit.edu	37	17	76794540	76794540	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:76794540G>C	uc002jvz.1	-	20	3659	c.3334C>G	c.(3334-3336)CAC>GAC	p.H1112D	USP36_uc002jwa.1_Missense_Mutation_p.H1112D|USP36_uc002jvy.1_Missense_Mutation_p.H172D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1110					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTGCTGGGTGAGTCACAGAC	0.443			NA											22	95					0	0	0.004656	0	0
ENGASE	64772	broad.mit.edu	37	17	77079624	77079624	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:77079624C>T	uc002jwv.2	+	9	1211	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	ENGASE_uc002jww.2_Silent_p.V107V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	401						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						TGCCTTTCGTCACGTCCTTCT	0.627			NA											10	51					0	0	0.006214	0	0
ZFP161	7541	broad.mit.edu	37	18	5290937	5290937	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:5290937G>C	uc002kmq.2	-	4	1431	c.1270C>G	c.(1270-1272)CAG>GAG	p.Q424E	ZFP161_uc002kmr.2_Missense_Mutation_p.Q424E|ZFP161_uc010dkp.2_Missense_Mutation_p.Q424E	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	424					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCTCGCTCTGGATGGCACTG	0.567			NA											30	63					0	0	0.009535	0	0
MC5R	4161	broad.mit.edu	37	18	13825819	13825819	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:13825819G>T	uc010xaf.1	+	1	55	c.55G>T	c.(55-57)GGC>TGC	p.G19C		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	19	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						TGCCACAGAGGGCAACCTTTC	0.448			NA											28	41					1.33986e-20	2.173e-20	0.004656	1	0
POTEC	388468	broad.mit.edu	37	18	14542897	14542897	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:14542897A>G	uc010dln.2	-	1	703	c.249T>C	c.(247-249)TCT>TCC	p.S83S	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	83										skin(3)	3						CATGGTCTCCAGAAGTGCCCA	0.582			NA											44	107					0	0	0.009718	0	0
FHOD3	80206	broad.mit.edu	37	18	34298531	34298531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:34298531G>A	uc002kzt.1	+	15	2791	c.2694G>A	c.(2692-2694)TGG>TGA	p.W898*	FHOD3_uc002kzs.1_Nonsense_Mutation_p.W915*|FHOD3_uc010dmz.1_Nonsense_Mutation_p.W630*|FHOD3_uc010dna.1_Nonsense_Mutation_p.W218*	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	898	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTTTGTTCTGGAATGAAGTTC	0.507			NA											21	75					0	0	0.008871	0	0
KIAA0427	9811	broad.mit.edu	37	18	46385872	46385872	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:46385872C>G	uc002ldc.2	+	12	2024	c.1739C>G	c.(1738-1740)CCT>CGT	p.P580R	KIAA0427_uc002ldd.2_Missense_Mutation_p.P582R|KIAA0427_uc002lde.3_Missense_Mutation_p.P209R	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	580					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGCTGGAACCCTCTGACGCCC	0.652			NA											15	58					0	0	0.00499	0	0
ACAA2	10449	broad.mit.edu	37	18	47329193	47329193	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:47329193G>C	uc002ldw.3	-	2	444	c.47C>G	c.(46-48)CCC>CGC	p.P16R	ACAA2_uc002ldx.3_Missense_Mutation_p.P13R	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						AGCTCCAAAGGGCGTTCGCTT	0.448			NA											11	52					0	0	0.003163	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504245	66504245	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:66504245A>T	uc002lkk.2	+	4	468	c.245A>T	c.(244-246)AAG>ATG	p.K82M	CCDC102B_uc002lki.2_Missense_Mutation_p.K82M|CCDC102B_uc002lkj.1_Missense_Mutation_p.K82M	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	82	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAGAAGTCAAGGCCAGAGCT	0.473			NA											28	89					0	0	0.013726	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785468	1785468	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:1785468C>A	uc002ltw.2	-	26	3627	c.3393G>T	c.(3391-3393)GAG>GAT	p.E1131D	ATP8B3_uc002ltv.2_Missense_Mutation_p.E1094D|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1131	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGCCCACCTCCATGGTGA	0.667			NA											4	23					0.00909568	0.00957512	0.009096	1	0
AP3D1	8943	broad.mit.edu	37	19	2109914	2109914	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:2109914T>A	uc002luz.2	-	27	3345	c.3122A>T	c.(3121-3123)CAC>CTC	p.H1041L	AP3D1_uc010dsv.2_Missense_Mutation_p.H131L|AP3D1_uc002luy.2_Missense_Mutation_p.H1000L|AP3D1_uc002lva.2_Missense_Mutation_p.H1103L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1041					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGAAGTGCAGCCTGAA	0.637			NA											5	54					0	0	0.001168	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157097	4157097	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:4157097G>A	uc002lzl.2	+	3	378	c.262G>A	c.(262-264)GGC>AGC	p.G88S	CREB3L3_uc002lzm.2_Missense_Mutation_p.G78S|CREB3L3_uc010xib.1_Missense_Mutation_p.G79S|CREB3L3_uc010xic.1_Missense_Mutation_p.G79S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	88	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGATAGTGGCATCTCCGA	0.677			NA											8	55					0	0	0.00308	0	0
STAP2	55620	broad.mit.edu	37	19	4325419	4325419	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:4325419G>A	uc002mab.2	-	10	1050	c.953C>T	c.(952-954)CCA>CTA	p.P318L	STAP2_uc002mac.2_Missense_Mutation_p.P318L|STAP2_uc002mad.2_Missense_Mutation_p.P211L	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	318	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAACAGCTGGGCCATCTCC	0.577			NA											19	101					0	0	0.007413	0	0
EMR1	2015	broad.mit.edu	37	19	6921732	6921732	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:6921732G>T	uc002mfw.2	+	14	1667	c.1629G>T	c.(1627-1629)CAG>CAT	p.Q543H	EMR1_uc010dvc.2_Missense_Mutation_p.Q543H|EMR1_uc010dvb.2_Missense_Mutation_p.Q491H|EMR1_uc010xji.1_Missense_Mutation_p.Q402H|EMR1_uc010xjj.1_Missense_Mutation_p.Q366H	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	543	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AGCCAAAGCAGAAGTTTGAGA	0.413			NA											4	23					0.00909568	0.00957512	0.009096	1	0
CD209	30835	broad.mit.edu	37	19	7809059	7809059	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:7809059A>G	uc002mht.2	-	6	1014	c.947T>C	c.(946-948)ATG>ACG	p.M316T	CD209_uc010xju.1_Missense_Mutation_p.M155T|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Missense_Mutation_p.M292T|CD209_uc002mhs.2_Missense_Mutation_p.M246T|CD209_uc002mhu.2_Missense_Mutation_p.M224T|CD209_uc010dvq.2_Missense_Mutation_p.M310T|CD209_uc002mhq.2_Missense_Mutation_p.M316T|CD209_uc002mhv.2_Missense_Mutation_p.M292T|CD209_uc002mhx.2_Missense_Mutation_p.M272T|CD209_uc002mhw.2_Missense_Mutation_p.M180T|CD209_uc010dvr.2_Missense_Mutation_p.M80T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	316	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TGAAAGTCCCATCCAGGTGAA	0.557			NA											13	72					0	0	0.004007	0	0
HNRNPM	4670	broad.mit.edu	37	19	8527445	8527445	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:8527445G>A	uc010dwe.2	+	3	396	c.316G>A	c.(316-318)GAC>AAC	p.D106N	HNRNPM_uc010dwc.1_Missense_Mutation_p.D106N|HNRNPM_uc010xke.1_Missense_Mutation_p.D106N|HNRNPM_uc010dwd.2_Missense_Mutation_p.D106N|HNRNPM_uc002mka.2_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	106	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						GCTCTTAATGGACGCTGAAGG	0.398			NA											61	165					0	0	0.00361	0	0
OR7D4	125958	broad.mit.edu	37	19	9324917	9324917	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:9324917C>T	uc002mla.1	-	1	597	c.597G>A	c.(595-597)TTG>TTA	p.L199L		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGGCCACATACAAGACAATGT	0.522			NA											32	79					0	0	0.013726	0	0
ZNF121	7675	broad.mit.edu	37	19	9677032	9677032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:9677032C>A	uc010xkp.1	-	4	989	c.757G>T	c.(757-759)GAG>TAG	p.E253*	ZNF121_uc010dwt.2_Nonsense_Mutation_p.E253*|ZNF121_uc010xkq.1_Nonsense_Mutation_p.E253*	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGGGCTTCTCCTCTGTGTGA	0.373			NA											10	74					0.000442599	0.000493424	0.006214	1	0
OR7C2	26658	broad.mit.edu	37	19	15052430	15052430	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:15052430C>A	uc010xoc.1	+	1	130	c.130C>A	c.(130-132)CTC>ATC	p.L44I		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Ovarian(108;0.203)					CGGAAACCTGCTCATCATCCT	0.517			NA											23	42					2.32416e-17	3.63442e-17	0.002299	1	0
GMIP	51291	broad.mit.edu	37	19	19749277	19749277	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:19749277T>C	uc002nnd.2	-	8	669	c.552A>G	c.(550-552)AAA>AAG	p.K184K	GMIP_uc010xrb.1_Silent_p.K184K|GMIP_uc010xrc.1_Silent_p.K184K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	184					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCTCAGTCCGTTTGGCGGCGA	0.597			NA											5	22					0	0	0.00308	0	0
ZNF14	7561	broad.mit.edu	37	19	19822649	19822649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:19822649C>A	uc002nnk.1	-	4	1595	c.1441G>T	c.(1441-1443)GGA>TGA	p.G481*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	481	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				AAAACTTTTCCACACTGTTTA	0.393			NA											6	78					3.59834e-05	4.23441e-05	0.001168	1	0
ZNF829	374899	broad.mit.edu	37	19	37382996	37382996	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:37382996T>A	uc002ofa.1	-	6	1059	c.697A>T	c.(697-699)ATT>TTT	p.I233F	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	233	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTGTGAATCCTCTGATGT	0.378			NA											4	72					0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38960040	38960040	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:38960040C>A	uc002oit.2	+	27	3782	c.3652C>A	c.(3652-3654)CTC>ATC	p.L1218I	RYR1_uc002oiu.2_Missense_Mutation_p.L1218I	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1218	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTGTGGCCTCCAGGAAGG	0.602			NA											34	222					2.05212e-20	3.31277e-20	0.005524	1	0
PAPL	390928	broad.mit.edu	37	19	39591613	39591613	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:39591613C>A	uc002oki.2	+	8	1106	c.832C>A	c.(832-834)CGG>AGG	p.R278R	PAPL_uc010egl.2_Silent_p.P236P	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	278						extracellular region	acid phosphatase activity|metal ion binding				0						CCGGGCAGCCCGGCCGTGGAT	0.627			NA											54	95					5.2118e-15	8.00669e-15	0.00361	1	0
FCGBP	8857	broad.mit.edu	37	19	40412002	40412002	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:40412002C>G	uc002omp.3	-	7	3634	c.3626G>C	c.(3625-3627)GGA>GCA	p.G1209A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1209	Cys-rich.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAATCACATCCGGGGCCAGG	0.667			NA											37	69					0	0	0.004878	0	0
LTBP4	8425	broad.mit.edu	37	19	41113371	41113371	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:41113371C>G	uc002ooh.1	+	10	1293	c.1293C>G	c.(1291-1293)TGC>TGG	p.C431W	LTBP4_uc002oog.1_Missense_Mutation_p.C394W|LTBP4_uc002ooi.1_Missense_Mutation_p.C364W|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	431	TB 2.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACAGATCTGCTGCTGCAGCC	0.667			NA											27	30					0	0	0.005443	0	0
PSG6	5675	broad.mit.edu	37	19	43411745	43411745	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:43411745A>G	uc002ovj.1	-	4	1020	c.968T>C	c.(967-969)GTC>GCC	p.V323A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.V330A|PSG6_uc002ovi.2_Missense_Mutation_p.V324A|PSG6_uc010xwk.1_Missense_Mutation_p.V163A|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.V113A|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.V323A	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	323	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				ATTCAGGGTGACTGGGTTACT	0.512			NA											30	89					0	0	0.00361	0	0
PSG7	5676	broad.mit.edu	37	19	43430607	43430607	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:43430607A>G	uc002ovl.3	-	5	1073	c.971T>C	c.(970-972)GTC>GCC	p.V324A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.V202A	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	324	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ATTCAGGGTGACTGGGTCACT	0.507			NA											18	213					0	0	0.002299	0	0
ZNF229	7772	broad.mit.edu	37	19	44933335	44933335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:44933335C>A	uc002oze.1	-	6	2055	c.1621G>T	c.(1621-1623)GGA>TGA	p.G541*	ZNF229_uc010ejk.1_Nonsense_Mutation_p.G195*|ZNF229_uc010ejl.1_Nonsense_Mutation_p.G535*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				GGTTTCTCTCCTGTGTGCAGT	0.512			NA											14	257					2.31682e-05	2.75887e-05	0.003163	1	0
C19orf41	126123	broad.mit.edu	37	19	50661573	50661573	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:50661573G>T	uc002prp.1	-	5	535	c.448C>A	c.(448-450)CAT>AAT	p.H150N		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	150	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		CTCTGGCAATGTAAACAGTCC	0.502			NA											14	70					9.16793e-09	1.25164e-08	0.00499	1	0
MYH14	79784	broad.mit.edu	37	19	50804968	50804968	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:50804968G>A	uc002prr.1	+	38	5444	c.5397G>A	c.(5395-5397)AAG>AAA	p.K1799K	MYH14_uc010enu.1_Silent_p.K1840K|MYH14_uc002prq.1_Silent_p.K1807K|MYH14_uc010ycb.1_Silent_p.K150K|MYH14_uc002prs.1_Silent_p.K150K	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1799	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTCAGCCAAGGCAGAGAGCG	0.622			NA											9	53					0	0	0.013537	0	0
NLRP7	199713	broad.mit.edu	37	19	55447801	55447801	+	Splice_Site	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:55447801T>C	uc002qih.3	-	6	2206	c.2130_splice	c.e6-1	p.E710_splice	NLRP7_uc002qig.3_Splice_Site_p.E682_splice|NLRP7_uc002qii.3_Splice_Site_p.E710_splice|NLRP7_uc010esk.2_Splice_Site_p.E710_splice|NLRP7_uc010esl.2_Splice_Site_p.E738_splice	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7								ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TTTTTAATCCTAGGGAAAAGC	0.448			NA											10	23					0	0	0.013537	0	0
PEG3	5178	broad.mit.edu	37	19	57327451	57327451	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57327451C>T	uc002qnu.2	-	7	2710	c.2359G>A	c.(2359-2361)GCT>ACT	p.A787T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A758T|PEG3_uc002qnv.2_Missense_Mutation_p.A787T|PEG3_uc002qnw.2_Missense_Mutation_p.A663T|PEG3_uc002qnx.2_Missense_Mutation_p.A661T|PEG3_uc010etr.2_Missense_Mutation_p.A787T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	787					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTCTGAGCTTCCACAGAG	0.438			NA											65	203					0	0	0.00361	0	0
ZNF304	57343	broad.mit.edu	37	19	57867648	57867648	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57867648G>T	uc010ygw.1	+	3	799	c.411G>T	c.(409-411)AAG>AAT	p.K137N	ZNF304_uc010etw.2_Missense_Mutation_p.K184N|ZNF304_uc010etx.2_Missense_Mutation_p.K95N	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	137	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGCACCAGAAGCAACATAATG	0.493			NA											8	38					5.4927e-09	7.55787e-09	0.004482	1	0
ZNF547	284306	broad.mit.edu	37	19	57888789	57888789	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57888789G>T	uc002qol.2	+	4	638	c.445G>T	c.(445-447)GTT>TTT	p.V149F	ZNF547_uc002qpm.3_Missense_Mutation_p.V75F|ZNF547_uc010ygx.1_Missense_Mutation_p.V149F	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAACCACAGAGTTCACATGGC	0.463			NA											16	34					3.57192e-18	5.67449e-18	0.006122	1	0
ZNF416	55659	broad.mit.edu	37	19	58089425	58089425	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:58089425C>A	uc002qpf.2	-	2	246	c.75G>T	c.(73-75)CAG>CAT	p.Q25H	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCCACTCACCTGTGTAAAGC	0.527			NA											12	41					2.68362e-12	3.94086e-12	0.013537	1	0
ZBTB45	84878	broad.mit.edu	37	19	59027778	59027778	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59027778G>T	uc002qtd.2	-	2	1555	c.1263C>A	c.(1261-1263)CAC>CAA	p.H421Q	ZBTB45_uc002qte.2_Missense_Mutation_p.H421Q|ZBTB45_uc002qtf.2_Missense_Mutation_p.H421Q	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	421	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGATGAACATGTGCTTGGTGT	0.582	NSCLC(164;1383 2017 5233 27540 46677)		NA											8	28					0.00448238	0.00482771	0.004482	1	0
TRIM28	10155	broad.mit.edu	37	19	59059178	59059178	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59059178G>A	uc002qtg.1	+	6	1148	c.859G>A	c.(859-861)GTA>ATA	p.V287I	TRIM28_uc010eut.1_Missense_Mutation_p.V205I|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	287	RBCC domain.|Leucine zipper alpha helical coiled-coil region.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGTGTCTGACGTACAGAAGCG	0.582			NA											12	53					0	0	0.010729	0	0
UBE2M	9040	broad.mit.edu	37	19	59067459	59067459	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59067459T>A	uc002qtl.3	-	6	1144	c.549A>T	c.(547-549)AAA>AAT	p.K183N	CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	183					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCCAACCCTATTTCAGGCAGC	0.627			NA											4	22					0	0	0.009096	0	0
ALLC	55821	broad.mit.edu	37	2	3730547	3730547	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:3730547T>A	uc010ewt.2	+	7	555	c.394T>A	c.(394-396)TGG>AGG	p.W132R		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	151							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATCCGACGACTGGAGTTACTT	0.423			NA								HNSCC(21;0.051)			27	173					0	0	0.003954	0	0
RNF144A	9781	broad.mit.edu	37	2	7164598	7164598	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:7164598G>T	uc002qys.2	+	7	1050	c.608G>T	c.(607-609)TGC>TTC	p.C203F	RNF144A_uc002qyt.2_Missense_Mutation_p.C52F	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	203	RING-type 2; degenerate.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGATGATGTGCAAGAACTGC	0.537			NA											9	83					0.00621372	0.00663113	0.006214	1	0
C2orf48	348738	broad.mit.edu	37	2	10282453	10282453	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:10282453G>C	uc002rai.1	+	3	433	c.144G>C	c.(142-144)AGG>AGC	p.R48S		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	hypothetical protein LOC348738	48											0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		tgcgtgtcaggtgttactcgg	0.035			NA											32	249					0	0	0.003755	0	0
TRIB2	28951	broad.mit.edu	37	2	12858618	12858618	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:12858618G>A	uc002rbv.3	+	1	1621	c.185G>A	c.(184-186)GGG>GAG	p.G62E	TRIB2_uc010yjp.1_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	62	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTGTATCGGGAAATACTTA	0.577			NA									OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	79					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21228933	21228933	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:21228933G>T	uc002red.2	-	26	10935	c.10807C>A	c.(10807-10809)CAT>AAT	p.H3603N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3603					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGACTTGCATGGACCTGAACA	0.488			NA											17	46					1.15088e-07	1.50086e-07	0.004007	1	0
NCOA1	8648	broad.mit.edu	37	2	24929492	24929492	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:24929492C>A	uc002rfk.2	+	11	1411	c.1153C>A	c.(1153-1155)CGA>AGA	p.R385R	NCOA1_uc010eye.2_Silent_p.R385R|NCOA1_uc002rfi.2_Silent_p.R234R|NCOA1_uc002rfj.2_Silent_p.R385R|NCOA1_uc002rfl.2_Silent_p.R385R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	385	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAATTCCCCGAGTAAATCC	0.448			NA	T	PAX3	alveolar rhadomyosarcoma								8	47					0.000157383	0.000179756	0.00308	1	0
CENPA	1058	broad.mit.edu	37	2	27016122	27016122	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27016122G>T	uc002rhr.2	+	4	581	c.398G>T	c.(397-399)CGG>CTG	p.R133L	CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.R107L	NM_001809	NP_001800	P49450	CENPA_HUMAN	centromere protein A isoform a	133	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGATCCGGGGCCTTGAG	0.557	Pancreas(28;769 878 30250 30578 41330)		NA											88	188					5.5301e-39	9.38237e-39	0.00361	1	0
TCF23	150921	broad.mit.edu	37	2	27375715	27375715	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27375715C>A	uc010ylg.1	+	3	625	c.625C>A	c.(625-627)CCA>ACA	p.P209T		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	209					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCACTCTCACCAGCTCTTGG	0.537			NA											40	76					1.8453e-21	3.0137e-21	0.010771	1	0
GCKR	2646	broad.mit.edu	37	2	27730148	27730148	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27730148G>T	uc002rky.2	+	13	1179	c.1113G>T	c.(1111-1113)ATG>ATT	p.M371I	GCKR_uc010ezd.2_Missense_Mutation_p.M369I|GCKR_uc010ylu.1_Missense_Mutation_p.M181I	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	371	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					ACAGTGACATGTTTAACCAGA	0.493			NA											39	372					3.21399e-22	5.26132e-22	0.004878	1	0
BIRC6	57448	broad.mit.edu	37	2	32689617	32689617	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32689617C>T	uc010ezu.2	+	25	5116	c.4982C>T	c.(4981-4983)GCA>GTA	p.A1661V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1661	Poly-Ala.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Acaacagctgcagcagctgca	0.353	Pancreas(94;175 1509 16028 18060 45422)		NA											6	8					0	0	0.001168	0	0
BIRC6	57448	broad.mit.edu	37	2	32726951	32726951	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32726951G>T	uc010ezu.2	+	47	9337	c.9203G>T	c.(9202-9204)AGA>ATA	p.R3068I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3068					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TATATGGGCAGACAAGTAAGT	0.343	Pancreas(94;175 1509 16028 18060 45422)		NA											28	70					5.91797e-21	9.64256e-21	0.012213	1	0
BIRC6	57448	broad.mit.edu	37	2	32768471	32768471	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32768471C>G	uc010ezu.2	+	62	12589	c.12455C>G	c.(12454-12456)CCC>CGC	p.P4152R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4152					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ACCATGTCTCCCATACCTGCC	0.483	Pancreas(94;175 1509 16028 18060 45422)		NA											24	309					0	0	0.008361	0	0
BIRC6	57448	broad.mit.edu	37	2	32768555	32768555	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32768555A>T	uc010ezu.2	+	62	12673	c.12539A>T	c.(12538-12540)CAT>CTT	p.H4180L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4180					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGAGAAAACATGCCCAGTGC	0.423	Pancreas(94;175 1509 16028 18060 45422)		NA											41	80					0	0	0.006999	0	0
LTBP1	4052	broad.mit.edu	37	2	33505174	33505174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:33505174C>T	uc002ros.2	+	19	3064	c.3064C>T	c.(3064-3066)CAG>TAG	p.Q1022*	LTBP1_uc002rot.2_Nonsense_Mutation_p.Q696*|LTBP1_uc002rou.2_Nonsense_Mutation_p.Q695*|LTBP1_uc002rov.2_Nonsense_Mutation_p.Q642*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.Q695*|LTBP1_uc010yna.1_Nonsense_Mutation_p.Q642*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1021	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGGATCTTACCAGTGCGTTCC	0.433			NA											24	45					0	0	0.004656	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774801	33774801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:33774801G>T	uc002rox.2	+	15	2152	c.1525G>T	c.(1525-1527)GAA>TAA	p.E509*	RASGRP3_uc010ync.1_Nonsense_Mutation_p.E509*|RASGRP3_uc002roy.2_Nonsense_Mutation_p.E508*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	509	Phorbol-ester/DAG-type.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					AACCTTCTGCGAACACTGTGC	0.388			NA											26	34					4.2108e-06	5.17284e-06	0.009535	1	0
HEATR5B	54497	broad.mit.edu	37	2	37289111	37289111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:37289111C>T	uc002rpp.1	-	11	1763	c.1667G>A	c.(1666-1668)TGG>TAG	p.W556*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	556							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				AAGTAAAAGCCAGCCAGCTTG	0.373			NA											7	84					0	0	0.001984	0	0
THUMPD2	80745	broad.mit.edu	37	2	39982476	39982476	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:39982476C>A	uc002rru.2	-	8	1074	c.1037G>T	c.(1036-1038)GGC>GTC	p.G346V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.G237V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	346							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				ATCCTCAAGGCCTGCAGCTTT	0.323			NA											9	29					1.08611e-07	1.4217e-07	0.010729	1	0
SLC8A1	6546	broad.mit.edu	37	2	40342676	40342676	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:40342676A>T	uc002rrx.2	-	10	2663	c.2639T>A	c.(2638-2640)CTG>CAG	p.L880Q	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.L875Q|SLC8A1_uc002rrz.2_Missense_Mutation_p.L867Q|SLC8A1_uc002rsa.2_Missense_Mutation_p.L844Q|SLC8A1_uc002rsd.3_Missense_Mutation_p.L844Q	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	880	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCGATTCCCAGGAAGACATT	0.567			NA											12	48					0	0	0.010729	0	0
NRXN1	9378	broad.mit.edu	37	2	50280416	50280416	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50280416A>T	uc010fbp.2	-	4	1733	c.926T>A	c.(925-927)ATT>AAT	p.I309N	NRXN1_uc002rxb.3_Missense_Mutation_p.I1046N|NRXN1_uc010fbq.2_Missense_Mutation_p.I1414N|NRXN1_uc002rxe.3_Missense_Mutation_p.I1344N	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	309	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCTGGCTAATGGGTTCTTT	0.428			NA											7	89					0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	50280420	50280420	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50280420G>T	uc010fbp.2	-	4	1729	c.922C>A	c.(922-924)CCC>ACC	p.P308T	NRXN1_uc002rxb.3_Missense_Mutation_p.P1045T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1413T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1343T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	308	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCTAATGGGTTCTTTTGTC	0.438			NA											7	88					0.00307968	0.00334789	0.00308	1	0
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Nonsense_Mutation	SNP	C	C	A	rs34326676		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50850508C>A	uc010fbq.2	-	6	2654	c.1177G>T	c.(1177-1179)GGA>TGA	p.G393*	NRXN1_uc002rxb.3_Nonsense_Mutation_p.G40*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.G360*|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458			NA											8	55					5.18039e-06	6.31954e-06	0.00308	1	0
DYSF	8291	broad.mit.edu	37	2	71743361	71743361	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:71743361A>G	uc002sie.2	+	8	1220	c.844A>G	c.(844-846)ATC>GTC	p.I282V	DYSF_uc010feg.2_Missense_Mutation_p.I313V|DYSF_uc010feh.2_Missense_Mutation_p.I282V|DYSF_uc002sig.3_Missense_Mutation_p.I282V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.I282V|DYSF_uc010fef.2_Missense_Mutation_p.I313V|DYSF_uc010fei.2_Missense_Mutation_p.I313V|DYSF_uc010fek.2_Missense_Mutation_p.I314V|DYSF_uc010fej.2_Missense_Mutation_p.I283V|DYSF_uc010fel.2_Missense_Mutation_p.I283V|DYSF_uc010feo.2_Missense_Mutation_p.I314V|DYSF_uc010fem.2_Missense_Mutation_p.I283V|DYSF_uc010fen.2_Missense_Mutation_p.I314V|DYSF_uc002sif.2_Missense_Mutation_p.I283V	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	282	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGATGAGCCCATCTTTATCAC	0.428			NA											9	43					0	0	0.008291	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359733	72359733	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:72359733T>C	uc002sih.1	-	6	1162	c.1162A>G	c.(1162-1164)AAA>GAA	p.K388E	CYP26B1_uc010yra.1_Missense_Mutation_p.K371E|CYP26B1_uc010yrb.1_Missense_Mutation_p.K313E	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	388					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						CTCCAGCCTTTGGGGATCTGG	0.632			NA											6	7					0	0	0.001168	0	0
NAT8	9027	broad.mit.edu	37	2	73868332	73868332	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:73868332G>C	uc002sji.1	-	2	591	c.424C>G	c.(424-426)CTC>GTC	p.L142V		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	142	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						TCCACAAAGAGATGAAACAGC	0.557			NA											4	81					0	0	0.009096	0	0
REG3G	130120	broad.mit.edu	37	2	79255038	79255038	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:79255038G>T	uc002snw.2	+	5	524	c.439G>T	c.(439-441)GGG>TGG	p.G147W	REG3G_uc002snx.2_Missense_Mutation_p.G147W|REG3G_uc010ffu.2_Missense_Mutation_p.G101W	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	147	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						TGGCCACTGTGGGAGCCTGTC	0.488			NA											12	115					1.08611e-07	1.4217e-07	0.010729	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530357	80530357	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:80530357C>A	uc002sok.1	-	2	858	c.588G>T	c.(586-588)CAG>CAT	p.Q196H	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	196	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GACTCTTGAGCTGATTGTATC	0.572			NA								HNSCC(69;0.2)			7	102					2.0095e-06	2.50828e-06	0.001984	1	0
RNF103	7844	broad.mit.edu	37	2	86832183	86832183	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:86832183C>T	uc002srn.2	-	4	1810	c.841G>A	c.(841-843)GGC>AGC	p.G281S	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.G142S|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	281					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						TTATATATGCCAATATCTGTC	0.348			NA											13	23					0	0	0.001855	0	0
ZNF514	84874	broad.mit.edu	37	2	95815661	95815661	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:95815661C>A	uc002sue.1	-	5	943	c.569G>T	c.(568-570)GGG>GTG	p.G190V	ZNF514_uc002sud.1_Missense_Mutation_p.G263V	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTGTTTCCCCCTAAAGTCTG	0.428			NA											29	194					5.77227e-19	9.25417e-19	0.008361	1	0
ADRA2B	151	broad.mit.edu	37	2	96781457	96781457	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:96781457C>A	uc002svi.2	-	1	432	c.432G>T	c.(430-432)TCG>TCT	p.S144S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	144	Helical; Name=4; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGGGCGGCAGCGAGATGACGG	0.682			NA											16	29					0.000422831	0.000472895	0.004007	1	0
ASTL	431705	broad.mit.edu	37	2	96798292	96798292	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:96798292G>T	uc010yui.1	-	6	624	c.624C>A	c.(622-624)AAC>AAA	p.N208K		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	208					proteolysis		metalloendopeptidase activity|zinc ion binding				0						GCAGGATCTCGTTCCAGTTGA	0.662			NA											24	45					9.95505e-16	1.53611e-15	0.002299	1	0
ZAP70	7535	broad.mit.edu	37	2	98354099	98354099	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:98354099G>T	uc002syd.1	+	11	1660	c.1453G>T	c.(1453-1455)GCA>TCA	p.A485S	ZAP70_uc002sye.1_Missense_Mutation_p.A375S|ZAP70_uc002syf.1_Missense_Mutation_p.A178S	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	485	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CCTCTCCAAAGCACTGGGTGC	0.612			NA											5	43					0.00116845	0.00128016	0.001168	1	0
REV1	51455	broad.mit.edu	37	2	100038094	100038094	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:100038094A>G	uc002tad.2	-	11	1910	c.1698T>C	c.(1696-1698)GCT>GCC	p.A566A	REV1_uc002tac.2_Silent_p.A565A	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	566	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CACAACTGACAGCTTCAATGT	0.428			NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					6	75					0	0	0.00308	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068613	103068613	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:103068613G>A	uc002tbx.2	+	12	2256	c.1772G>A	c.(1771-1773)GGG>GAG	p.G591E	IL18RAP_uc010fiz.2_Missense_Mutation_p.G449E	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	591	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						GAAACCACTGGGAGGAGCTCC	0.512			NA											23	141					0	0	0.00278	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300683	103300683	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:103300683G>T	uc002tca.2	+	5	1455	c.1313G>T	c.(1312-1314)CGA>CTA	p.R438L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	438						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GGAGGACTTCGAGGTGCCATC	0.438			NA											26	169					4.22769e-11	6.08057e-11	0.00632	1	0
SLC5A7	60482	broad.mit.edu	37	2	108626708	108626708	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:108626708T>A	uc002tdv.2	+	9	1410	c.1134T>A	c.(1132-1134)GTT>GTA	p.V378V	SLC5A7_uc010ywm.1_Silent_p.V131V|SLC5A7_uc010fjj.2_Silent_p.V378V|SLC5A7_uc010ywn.1_Silent_p.V265V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	378	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(1)		ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	AAGAAATCGTTTGGGTTATGC	0.448			NA											9	54					0	0	0.006214	0	0
MARCO	8685	broad.mit.edu	37	2	119750829	119750829	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:119750829G>T	uc002tln.1	+	16	1514	c.1382G>T	c.(1381-1383)CGC>CTC	p.R461L	MARCO_uc010yyf.1_Missense_Mutation_p.R383L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	461	SRCR.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GTCTTCTGCCGCATGCTGGGT	0.547	GBM(8;18 374 7467 11269 32796)		NA											32	165					2.80507e-11	4.04277e-11	0.012213	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125367443	125367443	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:125367443G>C	uc002tno.2	+	12	2183	c.1819G>C	c.(1819-1821)GAC>CAC	p.D607H	CNTNAP5_uc010flu.2_Missense_Mutation_p.D608H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	607	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCTACATCGACTCAGATGG	0.532			NA											11	59					0	0	0.008291	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671823	125671823	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:125671823G>T	uc002tno.2	+	24	4243	c.3879G>T	c.(3877-3879)TTG>TTT	p.L1293F	CNTNAP5_uc010flu.2_Missense_Mutation_p.L1294F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1293	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAATTGACTTGCAAAACACAG	0.428			NA											7	45					8.12818e-05	9.37558e-05	0.001984	1	0
MYO7B	4648	broad.mit.edu	37	2	128324254	128324254	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:128324254T>A	uc002top.2	+	5	375	c.322T>A	c.(322-324)TTC>ATC	p.F108I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	108	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTCAACCCGTTCCAGGTGCT	0.627			NA											3	9					0	0	0.004672	0	0
FAM123C	205147	broad.mit.edu	37	2	131520185	131520185	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:131520185G>T	uc002trw.2	+	2	730	c.540G>T	c.(538-540)GAG>GAT	p.E180D	FAM123C_uc010fmv.2_Missense_Mutation_p.E180D|FAM123C_uc010fms.1_Missense_Mutation_p.E180D|FAM123C_uc010fmt.1_Missense_Mutation_p.E180D|FAM123C_uc010fmu.1_Missense_Mutation_p.E180D	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	180										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGCGGCCGAGGGGAAAAGCC	0.647			NA											4	68					2.56e-06	3.17277e-06	0.009096	1	0
LCT	3938	broad.mit.edu	37	2	136570111	136570111	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:136570111C>A	uc002tuu.1	-	7	2134	c.2123G>T	c.(2122-2124)GGC>GTC	p.G708V		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	708	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGGGAGAAGCCTCCAATGGT	0.542			NA											10	70					1.76689e-08	2.38889e-08	0.006214	1	0
THSD7B	80731	broad.mit.edu	37	2	137872775	137872775	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:137872775G>A	uc002tva.1	+	4	1188	c.1188G>A	c.(1186-1188)ACG>ACA	p.T396T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T286T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATGTGACGGGACCCGTGT	0.577			NA											5	34					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141607774	141607774	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:141607774G>A	uc002tvj.1	-	29	5808	c.4836C>T	c.(4834-4836)GAC>GAT	p.D1612D	LRP1B_uc010fnl.1_Silent_p.D794D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1612	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCATCGAAGTCTATCACAG	0.368	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			7	108					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141641558	141641558	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:141641558C>T	uc002tvj.1	-	25	4969	c.3997G>A	c.(3997-3999)GGC>AGC	p.G1333S	LRP1B_uc010fnl.1_Missense_Mutation_p.G515S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1333	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGCCAGGCCATGCTCCACA	0.473	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			10	69					0	0	0.006214	0	0
KYNU	8942	broad.mit.edu	37	2	143799619	143799619	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:143799619G>T	uc002tvl.2	+	14	1406	c.1276G>T	c.(1276-1278)GAC>TAC	p.D426Y	KYNU_uc010fnm.2_Missense_Mutation_p.D426Y	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	426					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCCACAGTGTGACAAGCGGAA	0.269			NA											5	42					1.6384e-10	2.3183e-10	0.001984	1	0
RIF1	55183	broad.mit.edu	37	2	152318785	152318785	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:152318785T>G	uc002txm.2	+	28	3387	c.3257T>G	c.(3256-3258)CTG>CGG	p.L1086R	RIF1_uc002txl.2_Missense_Mutation_p.L1086R|RIF1_uc002txn.2_Missense_Mutation_p.L1086R|RIF1_uc002txo.2_Missense_Mutation_p.L1086R|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1086					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATAATAATCTGGATGTTTCC	0.289			NA											5	40					0	0	0.001984	0	0
SCN2A	6326	broad.mit.edu	37	2	166170433	166170433	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166170433A>G	uc002udc.2	+	10	1488	c.1198A>G	c.(1198-1200)ACG>GCG	p.T400A	SCN2A_uc002udd.2_Missense_Mutation_p.T400A|SCN2A_uc002ude.2_Missense_Mutation_p.T400A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	400	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TGCTGGGAAAACGTACATGAT	0.348			NA											13	40					0	0	0.003163	0	0
SCN1A	6323	broad.mit.edu	37	2	166847946	166847946	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166847946T>C	uc010zcz.1	-	26	5824	c.5806A>G	c.(5806-5808)ATC>GTC	p.I1936V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACCTTTGATTTTGTTTTTA	0.358			NA											24	44					0	0	0.004656	0	0
SCN1A	6323	broad.mit.edu	37	2	166848161	166848161	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166848161A>G	uc010zcz.1	-	26	5609	c.5591T>C	c.(5590-5592)GTT>GCT	p.V1864A		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1875						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTCCTAGAACCCGCTTTGT	0.468			NA											5	59					0	0	0.000602	0	0
SCN1A	6323	broad.mit.edu	37	2	166894432	166894432	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166894432T>C	uc010zcz.1	-	15	2785	c.2767A>G	c.(2767-2769)ATG>GTG	p.M923V	SCN1A_uc002udo.3_Missense_Mutation_p.M803V|SCN1A_uc010fpk.2_Missense_Mutation_p.M775V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	934	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M923I(1)		ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTCATTCATGTGCCAGCGT	0.507			NA											23	131					0	0	0.002299	0	0
XIRP2	129446	broad.mit.edu	37	2	168104362	168104362	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:168104362A>G	uc002udx.2	+	8	6478	c.6460A>G	c.(6460-6462)ACT>GCT	p.T2154A	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1979A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1932A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1979					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAATATTAACTGATACACA	0.413			NA											5	29					0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170103295	170103295	+	Missense_Mutation	SNP	C	C	A	rs147058423	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:170103295C>A	uc002ues.2	-	21	3323	c.3110G>T	c.(3109-3111)AGA>ATA	p.R1037I	LRP2_uc010zdf.1_Missense_Mutation_p.R900I	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1037	LDL-receptor class A 8.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGCACACATCTGCCATTTTT	0.473			NA											45	165					1.52319e-26	2.53349e-26	0.00874	1	0
PDK1	5163	broad.mit.edu	37	2	173451116	173451116	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:173451116G>A	uc002uhr.2	+	9	1156	c.1056G>A	c.(1054-1056)CTG>CTA	p.L352L	PDK1_uc010zdz.1_Silent_p.L197L|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Silent_p.L372L|PDK1_uc002uhs.2_Silent_p.L352L|PDK1_uc010zeb.1_Silent_p.L372L	NM_002610	NP_002601	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase 1 precursor	352	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(3)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CAGTGCCTCTGGTATGTTATC	0.453			NA							Autosomal_Dominant_Polycystic_Kidney_Disease				4	43					0	0	0.009096	0	0
HOXD3	3232	broad.mit.edu	37	2	177033942	177033942	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:177033942T>G	uc002ukt.1	+	2	276	c.100T>G	c.(100-102)TAC>GAC	p.Y34D		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	34					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGGCTATGGCTACAGCAAAAC	0.557			NA											8	98					0	0	0.00308	0	0
TTN	7273	broad.mit.edu	37	2	179434299	179434300	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179434299_179434300TA>AT	uc010zfg.1	-	275	69079_69080	c.68855_68856TA>AT	c.(68854-68856)ATA>AAT	p.I22952N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16647N|TTN_uc010zfi.1_Missense_Mutation_p.I16580N|TTN_uc010zfj.1_Missense_Mutation_p.I16455N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23879							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTTATATTTATGATTTTCCT	0.416			NA											5	29					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179530103	179530103	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179530103C>A	uc010zfk.1	-	10	1029	c.481_splice	c.e10+1	p.T161_splice	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTAACGTACTTTTCATACG	0.343			NA											13	64					1.5842e-08	2.15021e-08	0.001855	1	0
TTN	7273	broad.mit.edu	37	2	179567367	179567367	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179567367G>T	uc010zfg.1	-	104	26739	c.26515C>A	c.(26515-26517)CGC>AGC	p.R8839S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5500S|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9766							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTATGCGCTTTGTAAAC	0.393			NA											4	54					2.56e-06	3.17277e-06	0.009096	1	0
TTN	7273	broad.mit.edu	37	2	179593801	179593801	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179593801A>G	uc010zfg.1	-	62	15456	c.15232T>C	c.(15232-15234)TCT>CCT	p.S5078P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1739P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTATAGAAATAGGAGGA	0.393			NA											6	17					0	0	0.001984	0	0
DNAJC10	54431	broad.mit.edu	37	2	183605029	183605029	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:183605029C>G	uc002uow.1	+	12	1406	c.991C>G	c.(991-993)CTC>GTC	p.L331V	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.L285V|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	331					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTCTAGTTTCTCAACTCATT	0.249	Pancreas(56;860 1183 25669 35822 48585)		NA											3	19					0	0	0.004672	0	0
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:183699582G>T	uc002upa.1	-	6	1190	c.972C>A	c.(970-972)CGC>CGA	p.R324R		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	324					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428			NA											10	24					2.17888e-05	2.59904e-05	0.006214	1	0
ANKRD44	91526	broad.mit.edu	37	2	197873684	197873684	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:197873684T>A	uc002uua.1	-	19	1998	c.1921A>T	c.(1921-1923)AAA>TAA	p.K641*	ANKRD44_uc002utz.3_Nonsense_Mutation_p.K373*	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	666							protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGGCATCTTTCACATCGACC	0.448			NA											39	125					0	0	0.00361	0	0
ECEL1	9427	broad.mit.edu	37	2	233345169	233345169	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:233345169C>G	uc002vsv.2	-	17	2373	c.2168G>C	c.(2167-2169)CGG>CCG	p.R723P	ECEL1_uc010fya.1_Missense_Mutation_p.R721P|ECEL1_uc010fyb.1_Missense_Mutation_p.R430P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	723	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGCGACCGCCGCTTGATGCA	0.652			NA											9	45					0	0	0.010729	0	0
CHRND	1144	broad.mit.edu	37	2	233396061	233396061	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:233396061G>A	uc002vsw.2	+	8	825	c.821_splice	c.e8-1	p.S274_splice	CHRND_uc010zmg.1_Splice_Site_p.S259_splice|CHRND_uc010fyc.2_Splice_Site_p.S147_splice|CHRND_uc010zmh.1_Splice_Site_p.G80_splice	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta						muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCTTCCCCAGGTGGTGAGAA	0.627			NA											4	64					0	0	0.009096	0	0
AGXT	189	broad.mit.edu	37	2	241808615	241808615	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:241808615A>T	uc002waa.3	+	2	315	c.194A>T	c.(193-195)CAG>CTG	p.Q65L	AGXT_uc010zoi.1_Missense_Mutation_p.Q65L	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	65					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAAGGCATCCAGTACGTGTTC	0.622			NA											22	82					0	0	0.00278	0	0
FARP2	9855	broad.mit.edu	37	2	242429445	242429445	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:242429445C>G	uc002wbi.1	+	22	2607	c.2490C>G	c.(2488-2490)ATC>ATG	p.I830M		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	830	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAAAACAATCGTGGTGGCAG	0.557			NA											14	38					0	0	0.003163	0	0
VPS16	64601	broad.mit.edu	37	20	2844701	2844701	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:2844701G>T	uc002whe.2	+	16	1631	c.1583G>T	c.(1582-1584)GGT>GTT	p.G528V	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.G384V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.G214V|VPS16_uc002whi.2_5'UTR	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	528					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						CGAGCCTATGGTTGTGGCCGC	0.587			NA											9	72					6.81908e-15	1.04529e-14	0.00245	1	0
SLC4A11	83959	broad.mit.edu	37	20	3214271	3214271	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:3214271C>A	uc002wig.2	-	6	714	c.666G>T	c.(664-666)AAG>AAT	p.K222N	SLC4A11_uc010zqe.1_Missense_Mutation_p.K249N|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.K206N	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	222	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TCTGTAGGGCCTTCATGGTAC	0.652	NSCLC(190;922 2139 10266 10292 38692)		NA											4	37					0.00909568	0.00957512	0.009096	1	0
ADAM33	80332	broad.mit.edu	37	20	3653196	3653196	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:3653196G>C	uc002wit.2	-	13	1476	c.1389C>G	c.(1387-1389)TGC>TGG	p.C463W	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C463W|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.C463W|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.C195W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	463	Extracellular (Potential).|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GGCAGCGCACGCAGCAGTCCC	0.652			NA											11	74					0	0	0.013537	0	0
CSTL1	128817	broad.mit.edu	37	20	23425464	23425464	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:23425464C>A	uc002wte.2	+	4	633	c.387C>A	c.(385-387)CTC>CTA	p.L129L	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	129						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ATTTCCAGCTCTGGAACAATT	0.423			NA											22	41					4.72057e-08	6.30914e-08	0.003954	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060432	35060433	+	Missense_Mutation	DNP	CC	CC	AA	rs144799810		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:35060432_35060433CC>AA	uc002xff.2	+	3	747_748	c.312_313CC>AA	c.(310-315)CTCCTG>CTAATG	p.L105M	DLGAP4_uc010zvp.1_Missense_Mutation_p.L105M	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	105					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCGCCAACCTCCTGGACCAGTT	0.639			NA											7	67					0	0	0.004672	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356308	37356308	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:37356308G>A	uc002xjc.2	+	2	867	c.604G>A	c.(604-606)GGC>AGC	p.G202S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	202	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCCAACGCTGGGCGGCCGAGT	0.632			NA											7	31					0	0	0.001984	0	0
ACTR5	79913	broad.mit.edu	37	20	37384668	37384668	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:37384668G>C	uc002xjd.2	+	5	1187	c.1162G>C	c.(1162-1164)GAC>CAC	p.D388H		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	388					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				GGATGTGGTAGACAGCAAGCC	0.542			NA											5	23					0	0	0.000602	0	0
PTPRT	11122	broad.mit.edu	37	20	41101140	41101140	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:41101140G>T	uc002xkg.2	-	8	1400	c.1216C>A	c.(1216-1218)CAG>AAG	p.Q406K	PTPRT_uc010ggj.2_Missense_Mutation_p.Q406K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	406	Extracellular (Potential).|Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTCCCACTGCAGGGTCAGC	0.567			NA											5	37					1.23904e-05	1.49069e-05	0.000602	1	0
ZFP64	55734	broad.mit.edu	37	20	50781293	50781293	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:50781293C>T	uc002xwl.2	-	4	801	c.452G>A	c.(451-453)TGC>TAC	p.C151Y	ZFP64_uc002xwk.2_Missense_Mutation_p.C151Y|ZFP64_uc002xwm.2_Missense_Mutation_p.C149Y|ZFP64_uc002xwn.2_Missense_Mutation_p.C97Y	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTTGAATTGGCAACCTAAAAA	0.254			NA											6	25					0	0	0.004482	0	0
PCK1	5105	broad.mit.edu	37	20	56139650	56139650	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:56139650T>A	uc002xyn.3	+	8	1462	c.1299T>A	c.(1297-1299)TTT>TTA	p.F433L	PCK1_uc010zzm.1_Missense_Mutation_p.F116L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	433					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATTATCTTTGGAGGCCGTA	0.562			NA											22	135					0	0	0.002299	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349510	58349510	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:58349510A>T	uc002yau.2	+	7	1606	c.1139A>T	c.(1138-1140)CAG>CTG	p.Q380L	PHACTR3_uc002yat.2_Missense_Mutation_p.Q377L|PHACTR3_uc010zzw.1_Missense_Mutation_p.Q339L|PHACTR3_uc002yav.2_Missense_Mutation_p.Q339L|PHACTR3_uc002yaw.2_Missense_Mutation_p.Q339L|PHACTR3_uc002yax.2_Missense_Mutation_p.Q269L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	380						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTTTGTATCAGGACGAGGAG	0.507			NA											25	213					0	0	0.005443	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775907	19775907	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr21:19775907A>T	uc002ykw.2	-	1	64	c.33T>A	c.(31-33)CAT>CAA	p.H11Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	11	Cytoplasmic (Potential).				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TGAGAGAATGATGCCTAGAAG	0.393			NA											7	45					0	0	0.00308	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971197	45971197	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr21:45971197G>C	uc002zfi.1	-	1	192	c.145C>G	c.(145-147)CCA>GCA	p.P49A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	49	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						CAGCTCACTGGGGTGCAGACC	0.701			NA											5	58					0	0	0.000602	0	0
POTEH	23784	broad.mit.edu	37	22	16267032	16267032	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:16267032C>A	uc010gqp.2	-	9	1469	c.1417G>T	c.(1417-1419)GGT>TGT	p.G473C	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.G192C|POTEH_uc002zlj.1_Missense_Mutation_p.G308C	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	473										skin(1)	1						GCAGTGGCACCGTTAGTCAGG	0.408			NA											11	191					4.68919e-08	6.2792e-08	0.008291	1	0
PI4KA	5297	broad.mit.edu	37	22	21158629	21158629	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:21158629C>G	uc002zsz.3	-	12	1477	c.1246G>C	c.(1246-1248)GTC>CTC	p.V416L	PI4KA_uc010gsq.1_Missense_Mutation_p.V474L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	416					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCAATAATGACTTTGCTGGAC	0.507	GBM(136;1332 1831 3115 23601 50806)		NA									OREG0026326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	49					0	0	0.004482	0	0
BCR	613	broad.mit.edu	37	22	23627343	23627343	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:23627343G>C	uc002zww.2	+	10	2957	c.2361G>C	c.(2359-2361)TTG>TTC	p.L787F	BCR_uc002zwx.2_Missense_Mutation_p.L787F|BCR_uc011aiy.1_Missense_Mutation_p.L376F|BCR_uc010gtx.1_Missense_Mutation_p.L254F|BCR_uc002zwy.1_Missense_Mutation_p.L73F	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	787	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						TGGACGCTTTGAAGATCAAGA	0.562			NA	T	ABL1| FGFR1|JAK2 	CML|ALL|AML								9	24					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26343716	26343716	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:26343716G>T	uc003abz.1	+	36	5920	c.5670G>T	c.(5668-5670)GCG>GCT	p.A1890A	MYO18B_uc003aca.1_Silent_p.A1771A|MYO18B_uc010guy.1_Silent_p.A1772A|MYO18B_uc010guz.1_Silent_p.A1770A|MYO18B_uc011aka.1_Silent_p.A1044A|MYO18B_uc011akb.1_Silent_p.A1403A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1890	Tail.|Potential.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TTGAGAAGGCGGACCTCCTGA	0.567			NA											5	27					0.000602214	0.000667112	0.000602	1	0
ELFN2	114794	broad.mit.edu	37	22	37771374	37771374	+	Silent	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:37771374G>C	uc003asq.3	-	3	987	c.201C>G	c.(199-201)CTC>CTG	p.L67L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	67	LRR 1.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GCACGGCTTTGAGCTTGTTCT	0.592			NA											8	47					0	0	0.004482	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716360	50716360	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:50716360A>T	uc003bkv.3	-	32	5076	c.4970T>A	c.(4969-4971)TTC>TAC	p.F1657Y	PLXNB2_uc003bkt.1_Missense_Mutation_p.F449Y|PLXNB2_uc003bku.1_Missense_Mutation_p.F642Y	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1657	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGTCGAAGAAGTACTTGAC	0.597			NA											21	56					0	0	0.008871	0	0
FGD5	152273	broad.mit.edu	37	3	14862143	14862143	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:14862143C>A	uc003bzc.2	+	1	1675	c.1565C>A	c.(1564-1566)ACG>AAG	p.T522K	FGD5_uc011avk.1_Missense_Mutation_p.T522K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	522					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GTGGGAAAGACGCTTTTGTCA	0.612			NA											10	35					2.17888e-05	2.59904e-05	0.006214	1	0
ZNF385D	79750	broad.mit.edu	37	3	21706377	21706377	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:21706377C>A	uc003cce.2	-	2	573	c.165_splice	c.e2+1	p.A55_splice	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						CAGGTACTTACCGCATTGAAA	0.468			NA											20	73					1.50039e-11	2.17137e-11	0.012319	1	0
RARB	5915	broad.mit.edu	37	3	25622075	25622075	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:25622075C>G	uc011awl.1	+	5	735	c.669C>G	c.(667-669)GGC>GGG	p.G223G	RARB_uc003cdi.1_Silent_p.G104G|RARB_uc003cdh.2_Silent_p.G216G	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	223	Ligand-binding.			G->D: Greatly reduced transcriptional activation in the absence of hormone. Even gretaer reduction in transcriptional activation in the absence of hormone; when associated with I-222 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and S-232.	embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGACCTGGGCCTCTGGGACA	0.498			NA											12	80					0	0	0.001855	0	0
STT3B	201595	broad.mit.edu	37	3	31617899	31617899	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:31617899G>C	uc011axe.1	+	2	326	c.326G>C	c.(325-327)AGA>ACA	p.R109T	STT3B_uc010hft.1_Missense_Mutation_p.R109T|STT3B_uc003cer.1_Missense_Mutation_p.R109T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	109					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						TTTAACTATAGATCAACACAT	0.313			NA											5	26					0	0	0.001984	0	0
GPD1L	23171	broad.mit.edu	37	3	32207310	32207310	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:32207310C>T	uc003cew.2	+	8	1024	c.964C>T	c.(964-966)CCA>TCA	p.P322S		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	322					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						AACTAGGTTTCCATTGTTTAC	0.408			NA											16	58					0	0	0.008871	0	0
KBTBD5	131377	broad.mit.edu	37	3	42730470	42730470	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:42730470C>T	uc003clv.1	+	4	1631	c.1531C>T	c.(1531-1533)CGC>TGC	p.R511C		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	511										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCATGATGGCCGCATTATCGT	0.562			NA											9	44					0	0	0.004482	0	0
LAMB2	3913	broad.mit.edu	37	3	49168500	49168500	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:49168500G>C	uc003cwe.2	-	7	1097	c.798C>G	c.(796-798)ATC>ATG	p.I266M	LAMB2_uc003cwf.1_Missense_Mutation_p.I266M	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	266	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTTCTCTCGGATCTCCCTCC	0.582			NA											5	75					0	0	0.00308	0	0
C3orf62	375341	broad.mit.edu	37	3	49308858	49308858	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:49308858T>C	uc003cwn.2	-	3	762	c.559A>G	c.(559-561)ATT>GTT	p.I187V	C3orf62_uc003cwm.2_Missense_Mutation_p.I36V|hsa-mir-4271|MI0015879_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	187											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCTTCAATAGTTCGGATG	0.378			NA											10	116					0	0	0.006214	0	0
SHQ1	55164	broad.mit.edu	37	3	72799747	72799747	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:72799747A>T	uc003dpf.2	-	11	1529	c.1422T>A	c.(1420-1422)GAT>GAA	p.D474E	SHQ1_uc010hod.2_Missense_Mutation_p.D385E	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	474	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTGTTCTGAATCTGAGCCTG	0.473			NA											16	41					0	0	0.004007	0	0
ROBO1	6091	broad.mit.edu	37	3	78656193	78656193	+	Splice_Site	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:78656193T>A	uc003dqe.2	-	29	4644	c.4436_splice	c.e29-1	p.D1479_splice	ROBO1_uc003dqb.2_Splice_Site_p.D1440_splice|ROBO1_uc003dqc.2_Splice_Site_p.D1379_splice|ROBO1_uc003dqd.2_Splice_Site_p.D1434_splice|ROBO1_uc010hoh.2_Splice_Site_p.D671_splice|ROBO1_uc011bgl.1_Intron	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a						activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGGAAGATCTAAAAAGAAAC	0.418			NA											5	47					0	0	0.000602	0	0
CADM2	253559	broad.mit.edu	37	3	85932594	85932594	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:85932594G>T	uc003dqj.2	+	3	990	c.364_splice	c.e3+1	p.G122_splice	CADM2_uc003dqk.2_Splice_Site_p.G131_splice|CADM2_uc003dql.2_Splice_Site_p.G124_splice	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D						adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCGTTCTGGGTAAGTGCAAG	0.353			NA											8	28					0.000274275	0.000308229	0.004482	1	0
HTR1F	3355	broad.mit.edu	37	3	88040364	88040364	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:88040364T>A	uc003dqr.2	+	2	623	c.465T>A	c.(463-465)TCT>TCA	p.S155S		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	155	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTTTTATCTCTATGCCTCCTC	0.413			NA											7	19					0	0	0.00308	0	0
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:89259557C>A	uc003dqy.2	+	3	926	c.701C>A	c.(700-702)TCT>TAT	p.S234Y	EPHA3_uc003dqx.1_Missense_Mutation_p.S234Y|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	234	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAACAATTCTAAGGAGGAA	0.488			NA								TSP Lung(6;0.00050)			20	73					1.37522e-17	2.15534e-17	0.007413	1	0
NDUFB4	4710	broad.mit.edu	37	3	120320105	120320105	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:120320105G>A	uc003edu.2	+	2	406	c.327_splice	c.e2+1	p.R109_splice	NDUFB4_uc003edt.2_Missense_Mutation_p.V110I	NM_004547	NP_004538	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AACTGAGAGGGTAAGTATTCA	0.443			NA											11	140					0	0	0.013537	0	0
HEG1	57493	broad.mit.edu	37	3	124720857	124720857	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:124720857C>A	uc003ehs.3	-	11	3425	c.3357_splice	c.e11-1	p.R1119_splice	HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Splice_Site_p.R1219_splice	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor							extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GTTGGACTCCCTATAGGCAAA	0.493			NA											7	23					8.12818e-05	9.37558e-05	0.001984	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125876315	125876315	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:125876315G>T	uc003eim.1	-	4	589	c.399C>A	c.(397-399)TCC>TCA	p.S133S	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.S159S|ALDH1L1_uc003eip.1_Silent_p.S42S|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	133	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCAGAAGATGGAAAACCCCC	0.577			NA											9	59					3.86212e-05	4.52198e-05	0.008291	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181837	128181837	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:128181837G>T	uc003ekk.1	-	3	1913	c.252C>A	c.(250-252)CAC>CAA	p.H84Q	uc003ekl.1_5'Flank	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	84					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)		CGAAGGGGCTGTGGTAGGGCG	0.602			NA											12	57					7.93312e-07	1.00457e-06	0.00245	1	0
CCDC48	79825	broad.mit.edu	37	3	128758690	128758690	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:128758690G>A	uc011bkt.1	+	8	1796	c.1796G>A	c.(1795-1797)TGA>TAA	p.*599*		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	599											0						GTCTCCTGCTGAGGTTACTGG	0.647			NA											7	47					0	0	0.006214	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281150	140281150	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:140281150G>T	uc003etn.2	+	13	2402	c.2212G>T	c.(2212-2214)GGT>TGT	p.G738C		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	738	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CTCCATCTACGGTAAGGCCAC	0.552	GBM(45;858 913 3709 36904 37282)		NA								HNSCC(16;0.037)			6	36					3.59834e-05	4.23441e-05	0.001168	1	0
CHST2	9435	broad.mit.edu	37	3	142841065	142841065	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:142841065C>A	uc003evm.2	+	2	2296	c.1407C>A	c.(1405-1407)TTC>TTA	p.F469L		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	469	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						CCAAGCCTTTCGTGGTATCTG	0.582			NA											13	41					1.05317e-09	1.47825e-09	0.00245	1	0
SLC9A9	285195	broad.mit.edu	37	3	142985603	142985603	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:142985603C>A	uc003evn.2	-	16	2061	c.1879G>T	c.(1879-1881)GGC>TGC	p.G627C		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CCTCCCAGGCCGAGGTCTCCC	0.498			NA											17	62					3.32936e-07	4.28586e-07	0.006122	1	0
ZIC4	84107	broad.mit.edu	37	3	147120537	147120537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:147120537G>T	uc003ewd.1	-	2	321	c.48C>A	c.(46-48)TAC>TAA	p.Y16*	ZIC4_uc011bno.1_Nonsense_Mutation_p.Y66*	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	16						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GAGTGTTTCGGTAAAGCCGTA	0.323			NA											12	84					3.27435e-08	4.40149e-08	0.00245	1	0
OTOL1	131149	broad.mit.edu	37	3	161221370	161221371	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:161221370_161221371CC>TT	uc011bpb.1	+	4	1074_1075	c.1074_1075CC>TT	c.(1072-1077)ATCCCC>ATTTCC	p.P359S		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	359	C1q.					collagen					0						CTCCTAACATCCCCATCAAATT	0.47			NA											7	26					0	0	0.004672	0	0
ZBBX	79740	broad.mit.edu	37	3	167045743	167045743	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:167045743A>T	uc003fep.2	-	11	1172	c.849T>A	c.(847-849)CAT>CAA	p.H283Q	ZBBX_uc011bpc.1_Missense_Mutation_p.H283Q|ZBBX_uc003feq.2_Missense_Mutation_p.H254Q	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	283						intracellular	zinc ion binding			ovary(2)	2						TTACTGCTGCATGTAAATTCT	0.249			NA											10	59					0	0	0.006214	0	0
ABCC5	10057	broad.mit.edu	37	3	183645220	183645220	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:183645220T>A	uc003fmg.2	-	28	4110	c.3945A>T	c.(3943-3945)CTA>CTT	p.L1315L	ABCC5_uc011bqt.1_Silent_p.L843L|ABCC5_uc010hxl.2_Silent_p.L1272L	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1315	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTCAGAGGTAGCTGAGCAA	0.453			NA											10	15					0	0	0.006214	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039223	184039223	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:184039223C>G	uc003fnp.2	+	10	1049	c.851C>G	c.(850-852)TCT>TGT	p.S284C	EIF4G1_uc003fno.1_Missense_Mutation_p.S225C|EIF4G1_uc010hxw.1_Missense_Mutation_p.S120C|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.S197C|EIF4G1_uc003fnr.2_Missense_Mutation_p.S120C|EIF4G1_uc010hxx.2_Missense_Mutation_p.S291C|EIF4G1_uc003fns.2_Missense_Mutation_p.S244C|EIF4G1_uc010hxy.2_Missense_Mutation_p.S291C|EIF4G1_uc003fnv.3_Missense_Mutation_p.S284C|EIF4G1_uc003fnu.3_Missense_Mutation_p.S284C|EIF4G1_uc003fnw.2_Missense_Mutation_p.S291C|EIF4G1_uc003fnx.2_Missense_Mutation_p.S88C|EIF4G1_uc003fny.3_Missense_Mutation_p.S88C	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	284					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGTCCTCTCTATTCCTGGG	0.542			NA											8	56					0	0	0.006214	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039251	184039251	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:184039251A>G	uc003fnp.2	+	10	1077	c.879A>G	c.(877-879)ATA>ATG	p.I293M	EIF4G1_uc003fno.1_Missense_Mutation_p.I234M|EIF4G1_uc010hxw.1_Missense_Mutation_p.I129M|EIF4G1_uc003fnt.2_Missense_Mutation_p.I4M|EIF4G1_uc003fnq.2_Missense_Mutation_p.I206M|EIF4G1_uc003fnr.2_Missense_Mutation_p.I129M|EIF4G1_uc010hxx.2_Missense_Mutation_p.I300M|EIF4G1_uc003fns.2_Missense_Mutation_p.I253M|EIF4G1_uc010hxy.2_Missense_Mutation_p.I300M|EIF4G1_uc003fnv.3_Missense_Mutation_p.I293M|EIF4G1_uc003fnu.3_Missense_Mutation_p.I293M|EIF4G1_uc003fnw.2_Missense_Mutation_p.I300M|EIF4G1_uc003fnx.2_Missense_Mutation_p.I97M|EIF4G1_uc003fny.3_Missense_Mutation_p.I97M	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	293					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAACTATACAAATGTCTG	0.547			NA											10	45					0	0	0.006214	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964478	15964478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:15964478C>T	uc003gon.2	-	1	382	c.275G>A	c.(274-276)TGG>TAG	p.W92*		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	92						extracellular space	growth factor binding				0						GGCTTGATTCCAGTAAGGTTT	0.637			NA											13	48					0	0	0.001855	0	0
ANAPC4	29945	broad.mit.edu	37	4	25382048	25382048	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:25382048A>G	uc003gro.2	+	3	311	c.182A>G	c.(181-183)AAT>AGT	p.N61S	ANAPC4_uc003grp.2_5'Flank	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	61					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				TTTCCACCAAATGAAAATACA	0.343			NA											9	34					0	0	0.006214	0	0
UGDH	7358	broad.mit.edu	37	4	39512309	39512309	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:39512309G>A	uc003guk.1	-	4	753	c.437C>T	c.(436-438)GCA>GTA	p.A146V	UGDH_uc011byp.1_Missense_Mutation_p.A49V|UGDH_uc003gul.1_Intron	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	146					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	TTTTGTGTTTGCATCAAATAT	0.368			NA											21	61					0	0	0.00278	0	0
YIPF7	285525	broad.mit.edu	37	4	44638050	44638050	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:44638050G>T	uc010ifx.1	-	3	258	c.241C>A	c.(241-243)CTC>ATC	p.L81I	YIPF7_uc010ify.1_Missense_Mutation_p.L81I	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	81						endoplasmic reticulum membrane|integral to membrane					0						GATGACATGAGCATCTCTGAT	0.408			NA											10	25					2.17888e-05	2.59904e-05	0.006214	1	0
GABRB1	2560	broad.mit.edu	37	4	47034433	47034433	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:47034433G>T	uc003gxh.2	+	3	547	c.173_splice	c.e3-1	p.G58_splice	GABRB1_uc011bze.1_Intron|GABRB1_uc011bzd.1_Splice_Site_p.G58_splice|GABRB1_uc010igg.2_Splice_Site	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCCCCGGCAGGGCCCCCCGT	0.627			NA											34	155					3.62531e-18	5.74623e-18	0.004289	1	0
GABRB1	2560	broad.mit.edu	37	4	47408916	47408916	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:47408916G>T	uc003gxh.2	+	8	1427	c.1053G>T	c.(1051-1053)AAG>AAT	p.K351N	GABRB1_uc011bze.1_Missense_Mutation_p.K281N	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	351	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAATGAGAAGAATAAACTGG	0.393			NA											9	17					5.4927e-09	7.55787e-09	0.004482	1	0
PDGFRA	5156	broad.mit.edu	37	4	55127576	55127576	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:55127576C>A	uc003han.3	+	3	695	c.364C>A	c.(364-366)CCA>ACA	p.P122T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.P122T|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	122	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATCTATGTGCCAGGTGAGTT	0.428	Pancreas(151;208 1913 7310 23853 37092)		NA	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			41	105					6.2361e-21	1.01373e-20	0.007835	1	0
LPHN3	23284	broad.mit.edu	37	4	62897253	62897253	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:62897253G>A	uc010ihh.2	+	20	3485	c.3312G>A	c.(3310-3312)ATG>ATA	p.M1104I	LPHN3_uc003hcq.3_Missense_Mutation_p.M1104I|LPHN3_uc003hct.2_Missense_Mutation_p.M488I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1082	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CAGTCATCATGGCCTATCTCT	0.368			NA											3	17					0	0	0.004672	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361447	70361447	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:70361447C>T	uc003hek.3	-	1	180	c.133G>A	c.(133-135)GAA>AAA	p.E45K	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.E45K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	45					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						TGGACAAGTTCATCCAGGATT	0.448			NA											24	84					0	0	0.005443	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361573	70361573	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:70361573T>A	uc003hek.3	-	1	54	c.7A>T	c.(7-9)ATG>TTG	p.M3L	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M3L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	3					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						GTCCATTTCATAGACATCCTG	0.443			NA											22	121					0	0	0.002299	0	0
SLC4A4	8671	broad.mit.edu	37	4	72332163	72332163	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:72332163C>A	uc003hfy.2	+	13	1617	c.1500C>A	c.(1498-1500)GGC>GGA	p.G500G	SLC4A4_uc010iic.2_Silent_p.G500G|SLC4A4_uc010iib.2_Silent_p.G500G|SLC4A4_uc003hfz.2_Silent_p.G500G|SLC4A4_uc003hgc.3_Silent_p.G456G|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.G378G|SLC4A4_uc003hgb.3_Silent_p.G456G	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	500	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TATTTTAGGGCGTGTTGGAGA	0.413			NA											14	115					1.5739e-10	2.23609e-10	0.004007	1	0
CDS1	1040	broad.mit.edu	37	4	85560132	85560132	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:85560132T>A	uc011ccv.1	+	9	1364	c.866T>A	c.(865-867)GTG>GAG	p.V289E	CDS1_uc010ike.1_Missense_Mutation_p.V93E	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	289	Helical; (Potential).				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCCACAGTTGTGTTTGGATTC	0.299			NA											9	20					0	0	0.006214	0	0
PDHA2	5161	broad.mit.edu	37	4	96762200	96762200	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:96762200G>T	uc003htr.3	+	1	962	c.899G>T	c.(898-900)CGT>CTT	p.R300L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GTCAGTTATCGTACACGAGAA	0.433			NA											14	69					2.61681e-11	3.77924e-11	0.00245	1	0
ADH4	127	broad.mit.edu	37	4	100052734	100052734	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:100052734G>T	uc003hun.2	-	6	840	c.764C>A	c.(763-765)CCG>CAG	p.P255Q	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.P274Q	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	255					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TTCCTGGATCGGTTTATGTAA	0.443			NA											13	25					0.00010058	0.000115634	0.013537	1	0
NHEDC1	150159	broad.mit.edu	37	4	103822347	103822347	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:103822347C>A	uc003hww.2	-	12	1597	c.1475G>T	c.(1474-1476)GGG>GTG	p.G492V	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.G265V	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	492	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		CATTTTAGGCCCCAGAATGCC	0.423			NA											8	159					0.00448238	0.00482771	0.004482	1	0
BDH2	56898	broad.mit.edu	37	4	104004086	104004086	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:104004086C>A	uc003hwz.2	-	8	638	c.533G>T	c.(532-534)GGA>GTA	p.G178V	BDH2_uc003hxa.2_RNA	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	178					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ATCAACTGTTCCTAAATCAAA	0.343			NA											44	73					7.90463e-13	1.16815e-12	0.00361	1	0
ANK2	287	broad.mit.edu	37	4	114208779	114208779	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:114208779C>T	uc003ibe.3	+	19	2198	c.2098C>T	c.(2098-2100)CAC>TAC	p.H700Y	ANK2_uc003ibd.3_Missense_Mutation_p.H679Y|ANK2_uc003ibf.3_Missense_Mutation_p.H700Y|ANK2_uc003ibc.2_Missense_Mutation_p.H676Y|ANK2_uc011cgb.1_Missense_Mutation_p.H715Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	700	ANK 21.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACATCCTTACACCTTGCAGC	0.373			NA											10	34					0	0	0.010729	0	0
UGT8	7368	broad.mit.edu	37	4	115544547	115544547	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:115544547C>T	uc003ibs.2	+	2	1033	c.511C>T	c.(511-513)CCT>TCT	p.P171S	UGT8_uc003ibt.2_Missense_Mutation_p.P171S|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	171					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTGGGTGCTCCTGCTCCATT	0.443			NA											15	69					0	0	0.003163	0	0
NDST4	64579	broad.mit.edu	37	4	115749058	115749058	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:115749058G>T	uc003ibu.2	-	14	3212	c.2533C>A	c.(2533-2535)CAT>AAT	p.H845N	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	845	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCACATTATGATCTCGGTAG	0.413			NA											4	19					0.00909568	0.00957512	0.009096	1	0
FAT4	79633	broad.mit.edu	37	4	126240578	126240578	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:126240578C>T	uc003ifj.3	+	1	3012	c.3012C>T	c.(3010-3012)ACC>ACT	p.T1004T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1004	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATGAAGTCACCCTTTCTGAGT	0.408			NA											8	107					0	0	0.00308	0	0
PCDH10	57575	broad.mit.edu	37	4	134071449	134071449	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:134071449G>T	uc003iha.2	+	1	980	c.154G>T	c.(154-156)GGG>TGG	p.G52W	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G52W	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	52	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCGGCTCGCGGGTTTCAGAC	0.522			NA											25	69					4.7796e-09	6.60265e-09	0.004656	1	0
DCHS2	54798	broad.mit.edu	37	4	155295093	155295093	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:155295093C>A	uc003inw.2	-	4	441	c.441G>T	c.(439-441)ATG>ATT	p.M147I	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	147	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAATGTGTCATTCTCTGCT	0.338			NA											8	32					6.40141e-05	7.44523e-05	0.010729	1	0
GALNTL6	442117	broad.mit.edu	37	4	173804035	173804035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:173804035G>T	uc003isv.2	+	8	1754	c.1018G>T	c.(1018-1020)GAA>TAA	p.E340*		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	340	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CTGGGGAGGAGAACAGTATGA	0.423			NA											21	89					7.87624e-14	1.18909e-13	0.00278	1	0
GPM6A	2823	broad.mit.edu	37	4	176622815	176622815	+	Silent	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:176622815A>C	uc003iuf.2	-	2	945	c.141T>G	c.(139-141)GGT>GGG	p.G47G	GPM6A_uc011ckj.1_Silent_p.G40G|GPM6A_uc003iug.2_Silent_p.G47G|GPM6A_uc003iuh.2_Silent_p.G36G	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	47	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCGCTTCATGACCGCAGCCAC	0.493			NA											16	93					0	0	0.004007	0	0
ASB5	140458	broad.mit.edu	37	4	177136756	177136756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:177136756G>A	uc003iuq.1	-	7	1001	c.985C>T	c.(985-987)CGA>TGA	p.R329*	ASB5_uc003iup.1_Nonsense_Mutation_p.R276*	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	329	SOCS box.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTGTTTTATCGATACTGTAAG	0.328			NA											4	30					0	0	0.000602	0	0
CYP4V2	285440	broad.mit.edu	37	4	187115681	187115681	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:187115681C>G	uc003iyw.3	+	2	546	c.242C>G	c.(241-243)ACA>AGA	p.T81R		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	81					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATTGAGTACACAGAGGAATAC	0.353			NA											18	62					0	0	0.007413	0	0
FAT1	2195	broad.mit.edu	37	4	187557842	187557842	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:187557842C>A	uc003izf.2	-	5	4057	c.3869G>T	c.(3868-3870)AGC>ATC	p.S1290I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1290	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTCTTCGATGCTGTAGGAGAT	0.493	Colon(197;1040 2055 4143 4984 49344)		NA								HNSCC(5;0.00058)			50	282					1.83081e-24	3.02538e-24	0.00361	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163534	163534	+	Missense_Mutation	SNP	C	C	A	rs144505991	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:163534C>A	uc003jak.2	+	11	2329	c.2279C>A	c.(2278-2280)ACT>AAT	p.T760N		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	760					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTAACCAGCACTGTAGCCACA	0.627			NA											66	72					1.02487e-32	1.73459e-32	0.00361	1	0
LPCAT1	79888	broad.mit.edu	37	5	1474683	1474683	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:1474683C>A	uc003jcm.2	-	10	1134	c.1017G>T	c.(1015-1017)CGG>CGT	p.R339R		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612			NA											9	22					1.12685e-05	1.36275e-05	0.004482	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5232586	5232586	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:5232586G>A	uc003jdl.2	+	12	1945	c.1807G>A	c.(1807-1809)GGA>AGA	p.G603R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G603R|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAGGACCTGCGGAGGGGGAGT	0.567			NA											59	84					0	0	0.00361	0	0
KIAA0947	23379	broad.mit.edu	37	5	5454709	5454709	+	Missense_Mutation	SNP	A	A	T	rs34789072		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:5454709A>T	uc003jdm.3	+	11	871	c.649A>T	c.(649-651)ACA>TCA	p.T217S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	217										ovary(1)|central_nervous_system(1)	2						CTGTGTAAACACAACACACAG	0.453			NA											5	27					0	0	0.001168	0	0
TRIO	7204	broad.mit.edu	37	5	14462918	14462918	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:14462918G>T	uc003jff.2	+	36	5557	c.5551G>T	c.(5551-5553)GGG>TGG	p.G1851W	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.G1500W|TRIO_uc003jfi.1_Missense_Mutation_p.G154W	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CTCCTCCTCGGGGATGCAGAG	0.612			NA											82	79					8.6838e-40	1.48048e-39	0.00361	1	0
PDZD2	23037	broad.mit.edu	37	5	32037441	32037441	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:32037441C>G	uc003jhl.2	+	7	1900	c.1512C>G	c.(1510-1512)CGC>CGG	p.R504R	PDZD2_uc003jhm.2_Silent_p.R504R|PDZD2_uc011cnx.1_Silent_p.R330R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TCAAGAGTCGCCTTTCAGGTA	0.542			NA											23	19					0	0	0.00278	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965971	35965971	+	Missense_Mutation	SNP	T	T	A	rs144943338		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:35965971T>A	uc003jjv.1	-	4	517	c.360A>T	c.(358-360)CAA>CAT	p.Q120H	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.Q120H|UGT3A1_uc011cor.1_Missense_Mutation_p.Q86H|UGT3A1_uc003jjy.1_Missense_Mutation_p.Q66H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	120	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAACTACATTGAGTCCCAA	0.289			NA											8	61					0	0	0.008291	0	0
SLC1A3	6507	broad.mit.edu	37	5	36684013	36684013	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:36684013C>A	uc003jkj.3	+	9	1813	c.1337C>A	c.(1336-1338)GCG>GAG	p.A446E	SLC1A3_uc011cox.1_Missense_Mutation_p.A339E|SLC1A3_uc010iuy.2_Intron	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	446					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ATTCCTCAGGCGGGCCTGGTC	0.532			NA											23	80					1.64293e-13	2.4644e-13	0.00333	1	0
C7	730	broad.mit.edu	37	5	40964941	40964941	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:40964941T>G	uc003jmh.2	+	14	1962	c.1848T>G	c.(1846-1848)GAT>GAG	p.D616E	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	616	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GTGGAGAAGATTTACGGTGGC	0.403			NA											18	167					0	0	0.012319	0	0
DDX4	54514	broad.mit.edu	37	5	55059044	55059044	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:55059044G>T	uc003jqg.3	+	5	321	c.247G>T	c.(247-249)GGT>TGT	p.G83C	DDX4_uc010ivz.2_Missense_Mutation_p.G83C|DDX4_uc003jqh.3_Missense_Mutation_p.G83C	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	83	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCCACAATGGGTGGTTTTGG	0.318			NA											3	29					0.00024832	0.000280413	0.009096	1	0
RAD17	5884	broad.mit.edu	37	5	68695997	68695997	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:68695997G>A	uc003jwo.2	+	14	1788	c.1726_splice	c.e14+1	p.A576_splice	RAD17_uc003jwg.2_Splice_Site_p.A565_splice|RAD17_uc003jwh.2_Splice_Site_p.A565_splice|RAD17_uc003jwi.2_Splice_Site_p.A565_splice|RAD17_uc003jwj.2_Splice_Site_p.A565_splice|RAD17_uc003jwk.2_Splice_Site_p.A565_splice|RAD17_uc003jwl.2_Splice_Site_p.A565_splice|RAD17_uc003jwm.2_Splice_Site_p.A400_splice|RAD17_uc003jwn.2_Splice_Site_p.A479_splice|RAD17_uc003jwp.2_Splice_Site_p.A136_splice	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGAAATCAAGGTAATAACATA	0.234			NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					6	28					0	0	0.001168	0	0
SV2C	22987	broad.mit.edu	37	5	75581080	75581080	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:75581080C>A	uc003kei.1	+	5	1141	c.1007C>A	c.(1006-1008)GCC>GAC	p.A336D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	336	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCGTGGTGGCCCTCACATTC	0.502			NA											17	96					0.000132079	0.000151598	0.008871	1	0
RASGRF2	5924	broad.mit.edu	37	5	80369242	80369242	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:80369242C>T	uc003kha.1	+	5	858	c.858C>T	c.(856-858)CAC>CAT	p.H286H	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.H114H	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	286	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCATCAGCCACGACGACGTCA	0.463			NA											3	42					0	0	0.000602	0	0
PCSK1	5122	broad.mit.edu	37	5	95748052	95748052	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:95748052G>T	uc003kls.1	-	7	1058	c.852C>A	c.(850-852)GCC>GCA	p.A284A	PCSK1_uc010jbi.1_Silent_p.A45A	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	284	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCTTCTGGGCTAGCCGGC	0.473			NA											15	77					4.93089e-13	7.33339e-13	0.00245	1	0
STARD4	134429	broad.mit.edu	37	5	110843034	110843034	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:110843034T>A	uc003kph.1	-	2	182	c.98A>T	c.(97-99)AAG>ATG	p.K33M	STARD4_uc010jbw.1_Translation_Start_Site|STARD4_uc010jbx.1_Intron|STARD4_uc003kpi.1_RNA|STARD4_uc003kpj.2_Missense_Mutation_p.K33M	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	33	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TACCGTTTTCTTAGCAACTCG	0.328			NA											5	32					0	0	0.000602	0	0
AQPEP	206338	broad.mit.edu	37	5	115335492	115335492	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:115335492A>G	uc003kro.2	+	7	1572	c.1408A>G	c.(1408-1410)ATC>GTC	p.I470V	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	470	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TTTACATAATATCCTCAGAGA	0.378			NA											5	39					0	0	0.001168	0	0
FNIP1	96459	broad.mit.edu	37	5	131007483	131007483	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:131007483C>A	uc003kvs.1	-	14	2796	c.2654G>T	c.(2653-2655)TGT>TTT	p.C885F	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.C857F|FNIP1_uc010jdm.1_Missense_Mutation_p.C840F	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	885					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TATACATTTACAAAATTCATT	0.348			NA											3	33					0.004672	0.00500111	0.004672	1	0
ACSL6	23305	broad.mit.edu	37	5	131312363	131312363	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:131312363G>C	uc010jdo.1	-	10	976	c.893C>G	c.(892-894)TCA>TGA	p.S298*	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Nonsense_Mutation_p.S323*|ACSL6_uc003kvy.1_Nonsense_Mutation_p.S323*|ACSL6_uc003kwb.2_Nonsense_Mutation_p.S288*|ACSL6_uc003kvz.1_Nonsense_Mutation_p.S263*|ACSL6_uc003kwa.1_Nonsense_Mutation_p.S309*|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Nonsense_Mutation_p.S313*|ACSL6_uc010jdp.1_RNA	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	298	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGAAAGCCTGAGAAATCAGC	0.423			NA											8	60					0	0	0.008291	0	0
TRPC7	57113	broad.mit.edu	37	5	135692748	135692748	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:135692748G>T	uc003lbn.1	-	1	328	c.325C>A	c.(325-327)CTG>ATG	p.L109M	TRPC7_uc010jef.1_Missense_Mutation_p.L101M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L101M|TRPC7_uc010jei.1_Missense_Mutation_p.L101M|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	110	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGCAGCAGCGCGTCCCCC	0.672			NA											12	38					1.08611e-07	1.4217e-07	0.010729	1	0
CDC23	8697	broad.mit.edu	37	5	137542338	137542338	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:137542338G>A	uc003lcl.2	-	3	301	c.270C>T	c.(268-270)GCC>GCT	p.A90A	CDC23_uc003lcm.1_Silent_p.A90A	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	90	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTAGGCCTTGGCCAGGGTAT	0.403			NA											9	73					0	0	0.008291	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208228	140208228	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140208228A>G	uc003lho.2	+	1	579	c.552A>G	c.(550-552)ATA>ATG	p.I184M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.I184M|PCDHA6_uc011dab.1_Missense_Mutation_p.I184M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	184	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAAAATAAACAGTGATG	0.438			NA											37	71					0	0	0.004878	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475997	140475997	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140475997G>A	uc003lil.2	+	1	1761	c.1623G>A	c.(1621-1623)CCG>CCA	p.P541P	PCDHB2_uc003lim.1_Silent_p.P202P	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	541	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCGTTGAGCA	0.697			NA											14	51					0	0	0.00245	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536820	140536820	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140536820G>T	uc003lis.2	+	1	1241	c.1241G>T	c.(1240-1242)AGG>ATG	p.R414M		NR_001280				SubName: Full=Protocadherin-psi1;												0						AGAGAGAGCAGGGCCGAGTAC	0.473			NA											7	29					0.000157383	0.000179756	0.00308	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744720	140744720	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140744720G>A	uc003lju.1	+	1	823	c.823G>A	c.(823-825)GGG>AGG	p.G275R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.G275R	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	275	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATAAACGGGAAATTGAC	0.478			NA											6	34					0	0	0.001168	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755658	140755658	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140755658G>T	uc003ljy.1	+	1	2008	c.2008G>T	c.(2008-2010)GAC>TAC	p.D670Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.D670Y	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	670	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCCCCGACATCCTGGC	0.692			NA											10	45					0.00829132	0.00880795	0.008291	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811758	140811758	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140811758G>C	uc003lkt.1	+	1	1601	c.1432G>C	c.(1432-1434)GAC>CAC	p.D478H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D478H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	478	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGCCCACGACCCCGACTG	0.567			NA											4	40					0	0	0.009096	0	0
NR3C1	2908	broad.mit.edu	37	5	142779852	142779852	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:142779852T>A	uc003lmz.2	-	2	1045	c.553A>T	c.(553-555)ACC>TCC	p.T185S	NR3C1_uc003lmy.2_Missense_Mutation_p.T185S|NR3C1_uc003lna.2_Missense_Mutation_p.T185S|NR3C1_uc003lnb.2_Missense_Mutation_p.T185S|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.T185S|NR3C1_uc003lnd.2_Missense_Mutation_p.T185S|NR3C1_uc003lne.2_Missense_Mutation_p.T185S|NR3C1_uc003lnf.2_Missense_Mutation_p.T185S|NR3C1_uc003lng.2_Missense_Mutation_p.T185S|NR3C1_uc003lnh.2_Missense_Mutation_p.T185S|NR3C1_uc003lni.2_Missense_Mutation_p.T185S	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	185	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TGGTCTGTGGTATACAATTTC	0.453			NA											5	53					0	0	0.000602	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146070805	146070805	+	Splice_Site	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:146070805T>A	uc003loe.2	-	4	860	c.335_splice	c.e4-1	p.D112_splice	PPP2R2B_uc010jgm.2_Splice_Site_p.D101_splice|PPP2R2B_uc003log.3_Splice_Site_p.D112_splice|PPP2R2B_uc003lof.3_Splice_Site_p.D112_splice|PPP2R2B_uc003loi.3_Splice_Site_p.D115_splice|PPP2R2B_uc003loh.3_Splice_Site_p.D112_splice|PPP2R2B_uc003loj.3_Splice_Site_p.D92_splice|PPP2R2B_uc003lok.3_Splice_Site_p.D101_splice|PPP2R2B_uc011dbu.1_Splice_Site_p.D118_splice|PPP2R2B_uc011dbv.1_Splice_Site_p.D170_splice	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein						apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTTTTATCTGTAGTGGGCA	0.498			NA											7	37					0	0	0.001984	0	0
ZNF300	91975	broad.mit.edu	37	5	150276158	150276158	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:150276158T>C	uc003lsy.1	-	6	910	c.643A>G	c.(643-645)AGT>GGT	p.S215G	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCAAAACTCTGATCAGGT	0.338			NA											6	37					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150905491	150905491	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:150905491C>T	uc003lue.3	-	17	10357	c.10344G>A	c.(10342-10344)CTG>CTA	p.L3448L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.L141L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3448	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCAGGATCAGCTGCAGGA	0.562			NA											8	38					0	0	0.004482	0	0
GRIA1	2890	broad.mit.edu	37	5	153065836	153065836	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:153065836C>A	uc003lva.3	+	8	1446	c.1081C>A	c.(1081-1083)CGG>AGG	p.R361R	GRIA1_uc003luy.3_Silent_p.R361R|GRIA1_uc003luz.3_Silent_p.R266R|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.R281R|GRIA1_uc011dcx.1_Silent_p.R292R|GRIA1_uc011dcy.1_Silent_p.R371R|GRIA1_uc011dcz.1_Silent_p.R371R|GRIA1_uc010jia.1_Silent_p.R341R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	361	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAAGGACGCCGGACCAACTA	0.468			NA											26	65					1.7881e-09	2.49478e-09	0.008361	1	0
GABRG2	2566	broad.mit.edu	37	5	161524813	161524813	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:161524813C>A	uc003lyz.3	+	4	855	c.497C>A	c.(496-498)CCC>CAC	p.P166H	GABRG2_uc010jjc.2_Missense_Mutation_p.P166H|GABRG2_uc003lyy.3_Missense_Mutation_p.P166H|GABRG2_uc011dej.1_Missense_Mutation_p.P71H	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	166	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATCACCACCCCCAACAGGATG	0.423			NA											9	29					2.17888e-05	2.59904e-05	0.006214	1	0
HMMR	3161	broad.mit.edu	37	5	162918138	162918138	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:162918138G>T	uc003lzf.2	+	18	2325	c.2143G>T	c.(2143-2145)GCT>TCT	p.A715S	HMMR_uc003lzh.2_Missense_Mutation_p.A716S|HMMR_uc003lzg.2_Missense_Mutation_p.A700S|HMMR_uc011dem.1_Missense_Mutation_p.A629S|uc003lzi.2_Intron	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	715						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CTGTTACCGAGCTCCTATGGA	0.313			NA											14	42					1.52009e-12	2.24165e-12	0.003163	1	0
LCP2	3937	broad.mit.edu	37	5	169714976	169714976	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:169714976C>G	uc003man.1	-	3	393	c.186G>C	c.(184-186)GTG>GTC	p.V62V	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	62	SAM.				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)		GTACTTACGGCACCCGGAGCT	0.527			NA											4	53					0	0	0.000602	0	0
GABRP	2568	broad.mit.edu	37	5	170235643	170235643	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:170235643G>A	uc003mau.2	+	8	917	c.719G>A	c.(718-720)AGG>AAG	p.R240K	GABRP_uc011dev.1_Missense_Mutation_p.R240K	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	240	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCTTCGGAGGAATGTTCTG	0.418			NA											6	45					0	0	0.001168	0	0
FLT4	2324	broad.mit.edu	37	5	180048007	180048007	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:180048007C>T	uc003mma.3	-	15	2247	c.2168G>A	c.(2167-2169)GGA>GAA	p.G723E	FLT4_uc003mlz.3_Missense_Mutation_p.G723E|FLT4_uc003mmb.1_Missense_Mutation_p.G256E|FLT4_uc011dgy.1_Missense_Mutation_p.E756K	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	723	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTCGACTCCTGCAGGGGG	0.687	Colon(97;1075 1466 27033 27547 35871)		NA							Congenital_Hereditary_Lymphedema				4	13					0	0	0.000602	0	0
DUSP22	56940	broad.mit.edu	37	6	350824	350824	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:350824G>T	uc003msx.2	+	8	950	c.511G>T	c.(511-513)GCT>TCT	p.A171S	DUSP22_uc003msy.1_3'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	171					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTTCACAGCCGCTCCGGGAAT	0.408			NA											19	145					8.10497e-08	1.07502e-07	0.010504	1	0
GMDS	2762	broad.mit.edu	37	6	2117778	2117778	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:2117778C>A	uc003mtq.2	-	3	350	c.160G>T	c.(160-162)GTA>TTA	p.V54L		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	54					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GACCGCCGTACAATTCCATGG	0.358			NA											27	86					4.4194e-11	6.34325e-11	0.013726	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777132	25777132	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:25777132A>G	uc003nfe.2	+	10	1332	c.1213A>G	c.(1213-1215)ATC>GTC	p.I405V	SLC17A4_uc011djx.1_Missense_Mutation_p.I175V|SLC17A4_uc003nff.1_Missense_Mutation_p.I194V|SLC17A4_uc003nfg.2_Missense_Mutation_p.I342V|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	405	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						GTCTTCTGCCATCAGCAGCTT	0.522			NA											6	95					0	0	0.001168	0	0
OR10C1	442194	broad.mit.edu	37	6	29408414	29408414	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:29408414T>C	uc011dlp.1	+	1	622	c.622T>C	c.(622-624)TGC>CGC	p.C208R	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTCATCCTCTGCCCCTTTGG	0.582			NA											57	153					0	0	0.00361	0	0
MUC21	394263	broad.mit.edu	37	6	30955046	30955047	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:30955046_30955047CC>AA	uc003nsh.2	+	2	1345_1346	c.1094_1095CC>AA	c.(1093-1095)TCC>TAA	p.S365*	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	365	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AACTCTGGGTCCAGCACGACCT	0.629			NA											42	115					0	0	0.004672	0	0
C2	717	broad.mit.edu	37	6	31903837	31903837	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:31903837A>G	uc003nyf.2	+	7	1251	c.987A>G	c.(985-987)AAA>AAG	p.K329K	C2_uc003nyc.2_Silent_p.K116K|C2_uc011doo.1_Silent_p.K83K|C2_uc011dop.1_Intron|C2_uc010jtk.2_Silent_p.K197K|C2_uc011doq.1_Silent_p.K300K|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	329	VWFA.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCAACTATAAAGGTACGGGTG	0.498			NA											5	30					0	0	0.001168	0	0
KIFC1	3833	broad.mit.edu	37	6	33371703	33371703	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:33371703C>T	uc003oef.3	+	6	1003	c.553C>T	c.(553-555)CGC>TGC	p.R185C	KIFC1_uc011drf.1_Missense_Mutation_p.R177C	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	185	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						GGGGACAGAGCGCACAACACT	0.592			NA											6	139					0	0	0.001168	0	0
MDGA1	266727	broad.mit.edu	37	6	37620084	37620084	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:37620084C>A	uc003onu.1	-	7	2194	c.1015G>T	c.(1015-1017)GAC>TAC	p.D339Y	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	339	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TTGATCACGTCAGGAGTGATC	0.572			NA											9	18					0.000442599	0.000493424	0.006214	1	0
ZNF318	24149	broad.mit.edu	37	6	43306991	43306991	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:43306991T>A	uc003oux.2	-	10	4823	c.4745A>T	c.(4744-4746)GAG>GTG	p.E1582V	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1582					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTTAGTCTCAGGGGCCCC	0.468			NA											12	81					0	0	0.013537	0	0
MRPL14	64928	broad.mit.edu	37	6	44081627	44081627	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:44081627C>T	uc003owp.2	-	3	520	c.391G>A	c.(391-393)GAA>AAA	p.E131K		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14 precursor	131					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TACTCGCCTTCCCGCTTGCGC	0.562			NA											7	47					0	0	0.00308	0	0
COL21A1	81578	broad.mit.edu	37	6	56035886	56035886	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:56035886A>T	uc003pcs.2	-	4	913	c.681T>A	c.(679-681)GAT>GAA	p.D227E	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D227E|COL21A1_uc003pcu.1_Missense_Mutation_p.D227E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	227					cell adhesion	collagen|cytoplasm	structural molecule activity	p.D227N(1)		ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATCCCCTTTCATCACGAGCTG	0.308			NA											5	12					0	0	0.001984	0	0
BAI3	577	broad.mit.edu	37	6	70034899	70034899	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:70034899T>C	uc003pev.3	+	21	3398	c.2950T>C	c.(2950-2952)TTG>CTG	p.L984L	BAI3_uc010kak.2_Silent_p.L984L|BAI3_uc011dxx.1_Silent_p.L190L|BAI3_uc003pex.1_Silent_p.L114L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	984	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AAAACGCTTTTTGTGCCTTGG	0.403			NA											8	47					0	0	0.006214	0	0
DPPA5	340168	broad.mit.edu	37	6	74063858	74063858	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:74063858G>T	uc003pgs.1	-	1	96	c.91C>A	c.(91-93)CGG>AGG	p.R31R		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	31	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding				0						TTCAGCAGCCGCGTCTGGACC	0.602			NA											16	38					7.45023e-12	1.08494e-11	0.010504	1	0
KIAA1009	22832	broad.mit.edu	37	6	84872875	84872875	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:84872875C>G	uc010kbp.2	-	19	2597	c.2500G>C	c.(2500-2502)GCT>CCT	p.A834P	KIAA1009_uc003pkj.3_Missense_Mutation_p.A758P|KIAA1009_uc003pki.3_Missense_Mutation_p.A220P	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	834	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTGACATAAGCAATCTGATCT	0.328			NA											28	62					0	0	0.012213	0	0
ASCC3	10973	broad.mit.edu	37	6	101103674	101103674	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:101103674A>G	uc003pqk.2	-	17	3053	c.2724T>C	c.(2722-2724)ACT>ACC	p.T908T	ASCC3_uc011eai.1_Silent_p.T810T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	908	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCCACATTAGTAACTGTTC	0.363			NA											4	10					0	0	0.000602	0	0
PDSS2	57107	broad.mit.edu	37	6	107533374	107533374	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:107533374T>G	uc003prt.2	-	5	1105	c.815A>C	c.(814-816)CAT>CCT	p.H272P	PDSS2_uc011eak.1_Missense_Mutation_p.H136P|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.2_Missense_Mutation_p.H272P	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	272					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTCAGCATCATGCTTTGCTAA	0.418			NA											25	133					0	0	0.009535	0	0
AKD1	221264	broad.mit.edu	37	6	109954214	109954214	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:109954214C>A	uc003ptn.2	-	12	1243	c.1166G>T	c.(1165-1167)GGA>GTA	p.G389V	AKD1_uc003ptr.3_Missense_Mutation_p.G389V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	389					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						ACATGGTGGTCCTGGCATAGG	0.353			NA											15	14					1.5739e-10	2.23609e-10	0.004007	1	0
CDC40	51362	broad.mit.edu	37	6	110522870	110522870	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:110522870G>T	uc003pua.2	+	3	410	c.386G>T	c.(385-387)AGG>ATG	p.R129M		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	129					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GAGCAGCAAAGGAGAACTTTT	0.383			NA											8	59					0.00448238	0.00482771	0.004482	1	0
HEY2	23493	broad.mit.edu	37	6	126080786	126080786	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:126080786G>T	uc003qad.2	+	5	1043	c.852G>T	c.(850-852)GGG>GGT	p.G284G	HEY2_uc011ebr.1_Silent_p.G238G	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	284	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCTTCGCGGGGGCATTCCCCA	0.662			NA											74	126					8.29215e-51	1.42413e-50	0.00361	1	0
ENPP3	5169	broad.mit.edu	37	6	132054860	132054860	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:132054860C>T	uc003qcu.3	+	22	2433	c.2086C>T	c.(2086-2088)CCT>TCT	p.P696S	ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Missense_Mutation_p.P696S	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	696	Extracellular (Potential).|Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTCTATCCTCCTGGTTAGTA	0.458			NA											4	73					0	0	0.000602	0	0
UTRN	7402	broad.mit.edu	37	6	144803498	144803498	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:144803498A>G	uc003qkt.2	+	26	3753	c.3661A>G	c.(3661-3663)ATT>GTT	p.I1221V		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1221	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)		TTGTAATAGAATTCGAGGAAA	0.343			NA											4	40					0	0	0.000602	0	0
PNLDC1	154197	broad.mit.edu	37	6	160241522	160241522	+	Silent	SNP	G	G	A	rs144377714		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:160241522G>A	uc003qsx.1	+	19	1707	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	PNLDC1_uc003qsy.1_Silent_p.A523A	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	512	Helical; Anchor for type IV membrane protein; (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCTTCTCGCGTTCATCCTTG	0.627			NA											12	48					0	0	0.013537	0	0
THSD7A	221981	broad.mit.edu	37	7	11441426	11441426	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:11441426A>G	uc003ssf.3	-	22	4659	c.4407T>C	c.(4405-4407)TGT>TGC	p.C1469C		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1469	Extracellular (Potential).|TSP type-1 15.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCACCATAACATGATTTTG	0.328			NA								HNSCC(18;0.044)			6	62					0	0	0.00308	0	0
HDAC9	9734	broad.mit.edu	37	7	18705919	18705919	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:18705919G>T	uc003suh.2	+	11	1583	c.1542G>T	c.(1540-1542)GCG>GCT	p.A514A	HDAC9_uc003sue.2_Silent_p.A514A|HDAC9_uc011jyd.1_Silent_p.A514A|HDAC9_uc003sui.2_Silent_p.A517A|HDAC9_uc003suj.2_Silent_p.A473A|HDAC9_uc011jya.1_Silent_p.A511A|HDAC9_uc003sua.1_Silent_p.A492A|HDAC9_uc011jyb.1_Silent_p.A470A|HDAC9_uc003sud.1_Silent_p.A514A|HDAC9_uc011jyc.1_Silent_p.A473A|HDAC9_uc003suf.1_Silent_p.A545A|HDAC9_uc010kud.1_Silent_p.A517A|HDAC9_uc011jye.1_Silent_p.A486A|HDAC9_uc011jyf.1_Silent_p.A437A|HDAC9_uc010kue.1_Intron	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	514					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GGGACCAGGCGATGCAGGAAG	0.532			NA									OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	71					5.26018e-13	7.80651e-13	0.012319	1	0
ABCB5	340273	broad.mit.edu	37	7	20698250	20698250	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:20698250C>A	uc003suw.3	+	5	869	c.323C>A	c.(322-324)TCT>TAT	p.S108Y	ABCB5_uc010kuh.2_Missense_Mutation_p.S553Y|ABCB5_uc003suv.3_Missense_Mutation_p.S108Y|ABCB5_uc011jyi.1_Missense_Mutation_p.S108Y	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	108	ABC transporter 1.|Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						GAGGCTACGTCTGCCCTGGAT	0.448			NA											19	39					7.41877e-09	1.01681e-08	0.012319	1	0
MGC87042	256227	broad.mit.edu	37	7	22532984	22532984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:22532984G>A	uc003svh.2	-	3	596	c.499C>T	c.(499-501)CGA>TGA	p.R167*	MGC87042_uc010kum.1_Nonsense_Mutation_p.R186*			Q6NZ63	STEAL_HUMAN	SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;	167						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0						CTGTAGGATCGCCTCATTGCG	0.373			NA											13	29					0	0	0.013537	0	0
CHN2	1124	broad.mit.edu	37	7	29440373	29440373	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:29440373A>G	uc003szz.2	+	6	942	c.505A>G	c.(505-507)AGG>GGG	p.R169G	CHN2_uc011jzs.1_Missense_Mutation_p.R244G|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.R134G|CHN2_uc011jzt.1_Missense_Mutation_p.R182G|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.R154G	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						AGTATCCAGAAGGCTGAGCAG	0.423	Ovarian(1;44 48 13232 18918 31480)		NA											20	59					0	0	0.008871	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378648	31378648	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:31378648G>T	uc003tch.2	-	2	588	c.235C>A	c.(235-237)CTT>ATT	p.L79I		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	79					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						TTTTTCCTAAGACCCCTCCTT	0.378			NA											8	232					7.48243e-07	9.49223e-07	0.006214	1	0
CCDC129	223075	broad.mit.edu	37	7	31617894	31617894	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:31617894G>A	uc003tcj.1	+	8	2009	c.1016G>A	c.(1015-1017)TGC>TAC	p.C339Y	CCDC129_uc011kad.1_Missense_Mutation_p.C349Y|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.C365Y|CCDC129_uc003tck.1_Missense_Mutation_p.C247Y	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	339											0						CAGTGGCCTTGCTCATCTATG	0.488			NA											8	61					0	0	0.004482	0	0
BMPER	168667	broad.mit.edu	37	7	34118560	34118560	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:34118560G>A	uc011kap.1	+	12	1284	c.1170G>A	c.(1168-1170)TTG>TTA	p.L390L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	390	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AGTACGTTTTGACAAAAGACT	0.587			NA											10	157					0	0	0.006214	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396649	36396649	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:36396649T>A	uc003tfd.2	-	3	780	c.729A>T	c.(727-729)AAA>AAT	p.K243N	KIAA0895_uc003tfc.2_Missense_Mutation_p.K230N|KIAA0895_uc011kaw.1_Missense_Mutation_p.K92N|KIAA0895_uc003tfb.2_Missense_Mutation_p.K192N|KIAA0895_uc011kax.1_Missense_Mutation_p.K192N|KIAA0895_uc003tfe.2_Missense_Mutation_p.K230N|KIAA0895_uc011kay.1_Missense_Mutation_p.K192N	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	243											0						AGTTGGTGGGTTTTATAGCAG	0.393			NA											17	93					0	0	0.004007	0	0
ANLN	54443	broad.mit.edu	37	7	36464304	36464304	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:36464304A>G	uc003tff.2	+	17	2866	c.2662A>G	c.(2662-2664)AAA>GAA	p.K888E	ANLN_uc011kaz.1_Missense_Mutation_p.K800E|ANLN_uc003tfg.2_Missense_Mutation_p.K851E|ANLN_uc010kxe.2_Missense_Mutation_p.K850E	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	888	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						GGTGCAAAAGAAAGATCCCTC	0.303			NA											8	23					0	0	0.006214	0	0
TXNDC3	51314	broad.mit.edu	37	7	37927904	37927904	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:37927904A>G	uc003tfn.2	+	15	1645	c.1273A>G	c.(1273-1275)AGT>GGT	p.S425G		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	425	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TGCGATGGACAGTTTGCCGGT	0.363	Ovarian(108;903 1537 27096 29907 47400)		NA							Kartagener_syndrome				3	37					0	0	0.004672	0	0
AMPH	273	broad.mit.edu	37	7	38462040	38462040	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:38462040T>A	uc003tgu.2	-	16	1322	c.1253A>T	c.(1252-1254)CAG>CTG	p.Q418L	AMPH_uc003tgv.2_Missense_Mutation_p.Q418L|AMPH_uc003tgt.2_Missense_Mutation_p.Q345L|AMPH_uc003tgw.1_Missense_Mutation_p.Q483L|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	418					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GATCATACTCTGGTCTGTCTG	0.353			NA											8	235					0	0	0.004482	0	0
CAMK2B	816	broad.mit.edu	37	7	44259817	44259817	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:44259817G>T	uc003tkq.2	-	23	2055	c.1845C>A	c.(1843-1845)GCC>GCA	p.A615A	CAMK2B_uc003tkp.2_Silent_p.A491A|CAMK2B_uc003tkx.2_Silent_p.A451A|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.A467A|CAMK2B_uc003tks.2_Silent_p.A466A|CAMK2B_uc003tku.2_Silent_p.A452A|CAMK2B_uc003tkv.2_Silent_p.A428A|CAMK2B_uc003tkt.2_Silent_p.A441A|CAMK2B_uc003tkw.2_Silent_p.A398A|CAMK2B_uc010kyc.2_Silent_p.A491A|CAMK2B_uc003tkn.2_Silent_p.A248A	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	615					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						AAGCGATGCAGGCGGCATCCT	0.667			NA											4	46					2.56e-06	3.17277e-06	0.009096	1	0
PKD1L1	168507	broad.mit.edu	37	7	47937647	47937647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:47937647T>A	uc003tny.1	-	14	2209	c.2209A>T	c.(2209-2211)AGA>TGA	p.R737*		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	737	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGGGTCTGTCTGTGAGTGTCC	0.537			NA											3	31					0	0	0.004672	0	0
POM121L12	285877	broad.mit.edu	37	7	53103526	53103526	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:53103526C>A	uc003tpz.2	+	1	178	c.162C>A	c.(160-162)CCC>CCA	p.P54P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	54											0						GTCCCTGGCCCCTGAGGTCCC	0.701			NA											6	62					5.18039e-06	6.31954e-06	0.00308	1	0
MAGI2	9863	broad.mit.edu	37	7	78150963	78150963	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:78150963C>A	uc003ugx.2	-	4	793	c.539_splice	c.e4-1	p.D180_splice	MAGI2_uc003ugy.2_Splice_Site_p.D180_splice|MAGI2_uc011kgr.1_Splice_Site_p.D12_splice|MAGI2_uc011kgs.1_Splice_Site_p.D17_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ							cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTAATTGTCTGCAAACAAT	0.368			NA											26	137					9.57634e-11	1.36889e-10	0.00333	1	0
HGF	3082	broad.mit.edu	37	7	81374416	81374416	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:81374416C>A	uc003uhl.2	-	6	811	c.646G>T	c.(646-648)GGG>TGG	p.G216W	HGF_uc003uhm.2_Missense_Mutation_p.G211W|HGF_uc003uhn.1_Missense_Mutation_p.G216W|HGF_uc003uho.1_Missense_Mutation_p.G211W	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	216	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						TAACTCTCCCCATTGCAGGTC	0.408			NA											25	27					3.28513e-13	4.90663e-13	0.003954	1	0
PCLO	27445	broad.mit.edu	37	7	82582364	82582364	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:82582364T>C	uc003uhx.2	-	5	8194	c.7905A>G	c.(7903-7905)TCA>TCG	p.S2635S	PCLO_uc003uhv.2_Silent_p.S2635S|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2566					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGGTCTGTTCTGAAGAAATTG	0.463			NA											15	94					0	0	0.003163	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459223	87459223	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:87459223C>A	uc003ujb.2	+	12	1711	c.1300C>A	c.(1300-1302)CTT>ATT	p.L434I	RUNDC3B_uc011khe.1_Missense_Mutation_p.L417I|RUNDC3B_uc003ujc.2_Missense_Mutation_p.L368I|RUNDC3B_uc003ujd.2_Missense_Mutation_p.L290I	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	434										skin(1)	1	Esophageal squamous(14;0.00164)					TCCCTCATTACTTGGCCTCTG	0.353			NA											9	57					3.86212e-05	4.52198e-05	0.008291	1	0
ZNF804B	219578	broad.mit.edu	37	7	88966205	88966205	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:88966205C>A	uc011khi.1	+	4	4447	c.3909C>A	c.(3907-3909)GCC>GCA	p.A1303A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1303						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAATCCAGCCACAACTTCTA	0.438			NA								HNSCC(36;0.09)			43	145					8.00217e-19	1.27706e-18	0.00361	1	0
SRRT	51593	broad.mit.edu	37	7	100473278	100473278	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:100473278T>A	uc003uwy.2	+	3	335	c.67T>A	c.(67-69)TAC>AAC	p.Y23N	SRRT_uc010lhl.1_Missense_Mutation_p.Y23N|SRRT_uc003uxa.2_Missense_Mutation_p.Y23N|SRRT_uc003uwz.2_Missense_Mutation_p.Y23N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	23	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GCGCAGCGACTACGACCGTTC	0.572			NA											11	78					0	0	0.008291	0	0
PLOD3	8985	broad.mit.edu	37	7	100856219	100856219	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:100856219C>A	uc003uyd.2	-	8	1239	c.783G>T	c.(781-783)CAG>CAT	p.Q261H	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	261					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTAGTTGAGCTGCAGCTGTT	0.642			NA											6	32					2.7689e-08	3.73641e-08	0.001984	1	0
RELN	5649	broad.mit.edu	37	7	103207069	103207069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:103207069G>A	uc003vca.2	-	32	4886	c.4726C>T	c.(4726-4728)CGA>TGA	p.R1576*	RELN_uc010liz.2_Nonsense_Mutation_p.R1576*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1576					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCCACCATCGAAATGCCGTT	0.493	NSCLC(146;835 1944 15585 22231 52158)		NA											4	84					0	0	0.000602	0	0
DLD	1738	broad.mit.edu	37	7	107557757	107557757	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:107557757G>A	uc003vet.2	+	11	1196	c.1086G>A	c.(1084-1086)CTG>CTA	p.L362L	DLD_uc011kmg.1_Silent_p.L314L|DLD_uc011kmh.1_Silent_p.L339L|DLD_uc011kmi.1_Silent_p.L263L	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	362	FAD.				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GTCCAATGCTGGCTCACAAAG	0.423			NA											26	85					0	0	0.007291	0	0
LAMB1	3912	broad.mit.edu	37	7	107642135	107642135	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:107642135G>T	uc003vew.2	-	3	416	c.81C>A	c.(79-81)AGC>AGA	p.S27R	LAMB1_uc003vev.2_Missense_Mutation_p.S51R|LAMB1_uc003vex.2_Missense_Mutation_p.S27R|LAMB1_uc010ljn.1_Missense_Mutation_p.S113R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	27					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGCCGTAGCTGAACTCGG	0.652			NA											3	14					6.4e-05	7.44523e-05	0.004672	1	0
DNAJB9	4189	broad.mit.edu	37	7	108213544	108213544	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:108213544A>G	uc003vfn.2	+	3	621	c.419A>G	c.(418-420)CAT>CGT	p.H140R		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	140					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						TTTGAAAATCATTTCCAGACA	0.358			NA											9	27					0	0	0.010729	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518831	113518831	+	Silent	SNP	C	C	A	rs34610491	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:113518831C>A	uc010ljy.1	-	4	2347	c.2316G>T	c.(2314-2316)GCG>GCT	p.A772A		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	772					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GTGGATCAAACGCTGTTTCCT	0.408			NA											4	69					0.000602214	0.000667112	0.000602	1	0
SMO	6608	broad.mit.edu	37	7	128848686	128848686	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:128848686C>A	uc003vor.2	+	7	1631	c.1351C>A	c.(1351-1353)CGC>AGC	p.R451S	SMO_uc003vos.2_Missense_Mutation_p.R126S	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	451	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GACCATGCTGCGCCTGGGTGA	0.617			NA	Mis		skin basal cell 								12	15					3.07112e-06	3.79278e-06	0.010729	1	0
C7orf34	135927	broad.mit.edu	37	7	142637531	142637531	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:142637531C>A	uc003wca.2	+	2	342	c.301C>A	c.(301-303)CAG>AAG	p.Q101K		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	76						extracellular region					0	Melanoma(164;0.059)					GGAAGAAGACCAGTCGTCCAA	0.542			NA											47	67					3.76525e-18	5.95454e-18	0.00361	1	0
TAS2R40	259286	broad.mit.edu	37	7	142919937	142919937	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:142919937T>C	uc011ksx.1	+	1	766	c.766T>C	c.(766-768)TAC>CAC	p.Y256H		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	256	Helical; Name=6; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					TCTCATCCTCTACATTTTCAA	0.478			NA											15	165					0	0	0.003163	0	0
FAM131B	9715	broad.mit.edu	37	7	143056027	143056027	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143056027C>A	uc003wct.2	-	4	1981	c.275G>T	c.(274-276)GGG>GTG	p.G92V	FAM131B_uc010loz.2_Missense_Mutation_p.G60V|FAM131B_uc003wcu.3_Missense_Mutation_p.G92V|FAM131B_uc010lpa.2_Missense_Mutation_p.G120V|ZYX_uc011ktd.1_5'Flank	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	92											0	Melanoma(164;0.205)					TGGTGTCTTCCCCCAGCCCTG	0.607			NA											10	25					0.000978159	0.00107844	0.010729	1	0
OR2F1	26211	broad.mit.edu	37	7	143657496	143657496	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143657496G>T	uc003wds.1	+	1	477	c.433G>T	c.(433-435)GCC>TCC	p.A145S		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TGCTAGGTTGGCCATCACATC	0.527			NA											8	80					3.09899e-07	4.00405e-07	0.004482	1	0
OR2A14	135941	broad.mit.edu	37	7	143826981	143826981	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143826981T>A	uc011kua.1	+	1	776	c.776T>A	c.(775-777)ATG>AAG	p.M259K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					GTCACGTACATGGCCCCCAAG	0.552			NA											19	200					0	0	0.012319	0	0
OR2A14	135941	broad.mit.edu	37	7	143827000	143827000	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143827000T>C	uc011kua.1	+	1	795	c.795T>C	c.(793-795)CAT>CAC	p.H265H		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGTCCCGCCATCCTGAGGAGC	0.547			NA											121	136					0	0	0.00361	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060384	144060384	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:144060384G>A	uc003wel.2	+	2	740	c.622G>A	c.(622-624)GAA>AAA	p.E208K	ARHGEF5_uc003wek.2_Missense_Mutation_p.E208K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	208					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					CAGGCAGGGGGAAGAGCTGCC	0.542			NA											32	302					0	0	0.003271	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805426	146805426	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:146805426C>A	uc003weu.1	+	5	1254	c.738C>A	c.(736-738)GTC>GTA	p.V246V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	246	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGCTGGTCCTCAGTTTAA	0.398			NA								HNSCC(39;0.1)			4	11					1.23904e-05	1.49069e-05	0.000602	1	0
SSPO	23145	broad.mit.edu	37	7	149481971	149481971	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:149481971G>T	uc010lpk.2	+	19	2760	c.2760_splice	c.e19+1	p.Q920_splice	SSPO_uc010lpl.1_Missense_Mutation_p.G256W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTCACAGGGGCATTCTGC	0.607			NA											10	93					7.48243e-07	9.49223e-07	0.006214	1	0
SSPO	23145	broad.mit.edu	37	7	149492318	149492318	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:149492318G>T	uc010lpk.2	+	43	6207	c.6207G>T	c.(6205-6207)CTG>CTT	p.L2069L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2069	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCTCCCCTGGGGCTGGCCG	0.672			NA											16	50					9.16793e-09	1.25164e-08	0.00499	1	0
MLL3	58508	broad.mit.edu	37	7	151874238	151874238	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:151874238C>A	uc003wla.2	-	38	8519	c.8300G>T	c.(8299-8301)GGA>GTA	p.G2767V	MLL3_uc003wkz.2_Missense_Mutation_p.G1828V|MLL3_uc003wky.2_Missense_Mutation_p.G276V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2767	Asp-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTTCTTATCTCCCATGTCAAG	0.348	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								18	128					3.52763e-06	4.34122e-06	0.00499	1	0
CSMD1	64478	broad.mit.edu	37	8	2949081	2949081	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:2949081A>T	uc011kwk.1	-	48	7635	c.7245T>A	c.(7243-7245)ACT>ACA	p.T2415T	CSMD1_uc011kwj.1_Silent_p.T1744T|CSMD1_uc010lrg.2_Silent_p.T483T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2415	CUB 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGCATGGTCAGTGGACCAGC	0.373			NA											4	14					0	0	0.009096	0	0
PRSS55	203074	broad.mit.edu	37	8	10387192	10387192	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10387192A>G	uc003wta.2	+	2	345	c.330A>G	c.(328-330)TTA>TTG	p.L110L	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	110	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CTCACTGCTTATATTCCGAGG	0.592			NA											68	174					0	0	0.00361	0	0
RP1L1	94137	broad.mit.edu	37	8	10466378	10466378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10466378C>A	uc003wtc.2	-	4	5459	c.5230G>T	c.(5230-5232)GAG>TAG	p.E1744*		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1744					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCGCCATCCTCACCCTCGTCC	0.632			NA											32	103					6.00712e-18	9.45716e-18	0.012213	1	0
RP1L1	94137	broad.mit.edu	37	8	10469396	10469396	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10469396C>A	uc003wtc.2	-	4	2441	c.2212G>T	c.(2212-2214)GCC>TCC	p.A738S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	738					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GTGACAGTGGCACTGCTGGTT	0.627			NA											24	46					5.35356e-11	7.66831e-11	0.00278	1	0
SOX7	83595	broad.mit.edu	37	8	10584169	10584169	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10584169C>T	uc003wtf.2	-	2	325	c.246G>A	c.(244-246)TCG>TCA	p.S82S	SOX7_uc011kwz.1_Silent_p.S134S|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	82	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GCGCCTTCCACGACTTTCCTG	0.507			NA											6	39					0	0	0.001168	0	0
XKR6	286046	broad.mit.edu	37	8	10756197	10756197	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10756197C>A	uc003wtk.1	-	3	1218	c.1191G>T	c.(1189-1191)ATG>ATT	p.M397I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	397						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCCAGAAGGCCATGGCGCACC	0.512			NA											11	36					1.58986e-06	1.9916e-06	0.008291	1	0
EFHA2	286097	broad.mit.edu	37	8	16948092	16948092	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:16948092G>T	uc003wxd.2	+	8	929	c.887G>T	c.(886-888)AGT>ATT	p.S296I		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	296						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CCTACTAATAGTGTATGTACA	0.328	Pancreas(177;1461 2846 10523 14242)|Colon(184;2703 2719 18484 23400)		NA											17	81					1.15088e-07	1.50086e-07	0.004007	1	0
MTUS1	57509	broad.mit.edu	37	8	17612649	17612649	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:17612649T>A	uc003wxv.2	-	2	1142	c.668A>T	c.(667-669)TAT>TTT	p.Y223F	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.Y223F|MTUS1_uc010lsz.2_Missense_Mutation_p.Y223F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	223						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TTCTCTATCATAAGTAGTTTC	0.418			NA											5	130					0	0	0.001984	0	0
SLC18A1	6570	broad.mit.edu	37	8	20003354	20003354	+	Silent	SNP	G	G	T	rs149404030		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:20003354G>T	uc011kyq.1	-	17	1969	c.1498C>A	c.(1498-1500)CGG>AGG	p.R500R	SLC18A1_uc003wzl.2_Silent_p.R287R|SLC18A1_uc003wzm.2_Silent_p.R500R|SLC18A1_uc011kyr.1_Missense_Mutation_p.P455Q|SLC18A1_uc003wzn.2_Silent_p.R468R|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.R468R	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	500	Cytoplasmic (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		GCATACATCCGGGTCTCCATG	0.473			NA											11	51					6.42651e-13	9.51723e-13	0.010729	1	0
PIWIL2	55124	broad.mit.edu	37	8	22210612	22210612	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:22210612G>T	uc003xbn.2	+	21	2692	c.2544G>T	c.(2542-2544)GTG>GTT	p.V848V	PIWIL2_uc011kzf.1_Silent_p.V848V|PIWIL2_uc010ltv.2_Silent_p.V848V|PIWIL2_uc003xbo.2_Silent_p.V2V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	848	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAAGATGGTGGTGTTTGTAG	0.408			NA											45	103					4.21674e-32	7.10241e-32	0.00361	1	0
ADAM2	2515	broad.mit.edu	37	8	39645695	39645695	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:39645695T>C	uc003xnj.2	-	9	793	c.718A>G	c.(718-720)ACT>GCT	p.T240A	ADAM2_uc003xnk.2_Missense_Mutation_p.T221A|ADAM2_uc011lck.1_Missense_Mutation_p.T240A|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	240	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTTCTCCAGTGGTTGCAATT	0.289			NA											4	8					0	0	0.009096	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532226	40532226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:40532226T>A	uc003xnr.2	-	5	720	c.574A>T	c.(574-576)AGA>TGA	p.R192*	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	192						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCCTTACCTCTCAGTTCCCCC	0.448			NA											27	73					0	0	0.00632	0	0
SNTG1	54212	broad.mit.edu	37	8	51449349	51449349	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:51449349C>A	uc010lxy.1	+	12	1032	c.661C>A	c.(661-663)CCC>ACC	p.P221T	SNTG1_uc003xqs.1_Missense_Mutation_p.P221T|SNTG1_uc010lxz.1_Missense_Mutation_p.P221T|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	221					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGTATGTGCCCGGCACAGA	0.473			NA											42	286					5.2432e-18	8.27313e-18	0.00361	1	0
XKR4	114786	broad.mit.edu	37	8	56436157	56436157	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:56436157A>T	uc003xsf.2	+	3	1356	c.1324A>T	c.(1324-1326)ATC>TTC	p.I442F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	442	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTATCTATATCTTCAGTTG	0.448			NA											149	226					0	0	0.00361	0	0
UBXN2B	137886	broad.mit.edu	37	8	59347001	59347001	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:59347001T>A	uc003xtl.2	+	5	593	c.471T>A	c.(469-471)GAT>GAA	p.D157E		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	157	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						GTTTAGATGATGGAGAATTGA	0.279			NA											4	50					0	0	0.001168	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410881	59410881	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:59410881G>A	uc003xtm.3	-	2	291	c.228C>T	c.(226-228)GTC>GTT	p.V76V		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	76					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGATGAAATGGACATATTTTC	0.393			NA							Neonatal_Giant_Cell_Hepatitis				7	140					0	0	0.001984	0	0
PREX2	80243	broad.mit.edu	37	8	68956759	68956759	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:68956759C>A	uc003xxv.1	+	8	904	c.877C>A	c.(877-879)CGG>AGG	p.R293R	PREX2_uc003xxu.1_Silent_p.R293R|PREX2_uc011lez.1_Silent_p.R228R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	293	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AGATGGACATCGGTACCTTTT	0.403			NA											4	38					0.00024832	0.000280413	0.009096	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70585498	70585498	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:70585498T>A	uc003xyl.2	-	10	2860	c.2153A>T	c.(2152-2154)CAG>CTG	p.Q718L	SLCO5A1_uc010lzb.2_Missense_Mutation_p.Q663L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	718	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACCACATTCCTGTTGCCAGAG	0.468			NA											70	283					0	0	0.00361	0	0
PRDM14	63978	broad.mit.edu	37	8	70964509	70964509	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:70964509G>A	uc003xym.2	-	8	1721	c.1519C>T	c.(1519-1521)CAC>TAC	p.H507Y		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	507	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCCTGATGTGTGTGCGGAGT	0.488	NSCLC(129;99 1813 5906 40656 46114)		NA											13	206					0	0	0.003163	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764453	77764453	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77764453G>A	uc003yav.2	+	10	5548	c.5161G>A	c.(5161-5163)GGC>AGC	p.G1721S	ZFHX4_uc003yau.1_Missense_Mutation_p.G1766S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1721S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1721	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGGATGCCTGGCATGACAGG	0.473			NA								HNSCC(33;0.089)			4	36					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768373	77768373	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77768373C>A	uc003yav.2	+	10	9468	c.9081C>A	c.(9079-9081)GAC>GAA	p.D3027E	ZFHX4_uc003yau.1_Missense_Mutation_p.D3072E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D3027E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3027						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCTTCAGACGTGCTGGGCT	0.572			NA								HNSCC(33;0.089)			24	178					7.07758e-08	9.42329e-08	0.004656	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776730	77776730	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77776730G>T	uc003yav.2	+	11	11032	c.10645G>T	c.(10645-10647)GTG>TTG	p.V3549L		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3545						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCTTTGGAAGTGAAGGCTAA	0.448			NA								HNSCC(33;0.089)			9	46					0.00448238	0.00482771	0.004482	1	0
RALYL	138046	broad.mit.edu	37	8	85799925	85799926	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:85799925_85799926CC>AG	uc003ycq.3	+	9	1188_1189	c.772_773CC>AG	c.(772-774)CCT>AGT	p.P258S	RALYL_uc003ycr.3_Missense_Mutation_p.P258S|RALYL_uc003ycs.3_Missense_Mutation_p.P258S|RALYL_uc010lzy.2_Missense_Mutation_p.P247S|RALYL_uc003yct.3_Missense_Mutation_p.P271S|RALYL_uc003ycu.3_Missense_Mutation_p.P185S|RALYL_uc003ycv.3_Intron	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	258							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TACAGAGGAGCCTGCTGAAGGA	0.51			NA											29	71					0	0	0.004672	0	0
CNBD1	168975	broad.mit.edu	37	8	88249304	88249304	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88249304A>G	uc003ydy.2	+	6	783	c.735A>G	c.(733-735)ACA>ACG	p.T245T		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	245										ovary(3)	3						AAAACTCTACACTTGCTGAGA	0.373			NA											5	29					0	0	0.001168	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885435	88885435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88885435A>T	uc003ydz.2	-	1	862	c.765T>A	c.(763-765)TGT>TGA	p.C255*		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	255										ovary(1)	1						CTTGATTTCCACAGCGCAGAT	0.512			NA											15	115					0	0	0.003163	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885437	88885437	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88885437A>T	uc003ydz.2	-	1	860	c.763T>A	c.(763-765)TGT>AGT	p.C255S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	255										ovary(1)	1						TGATTTCCACAGCGCAGATCA	0.512			NA											14	114					0	0	0.00245	0	0
NIPAL2	79815	broad.mit.edu	37	8	99264812	99264812	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:99264812G>A	uc003yil.1	-	3	511	c.255C>T	c.(253-255)TTC>TTT	p.F85F	NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Silent_p.F85F	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	85						integral to membrane					0						GCACACTCTTGAAGTATGGCC	0.493			NA											5	83					0	0	0.001168	0	0
GRHL2	79977	broad.mit.edu	37	8	102586052	102586052	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:102586052G>T	uc010mbu.2	+	6	1221	c.891G>T	c.(889-891)AGG>AGT	p.R297S	GRHL2_uc011lhi.1_Missense_Mutation_p.R297S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	297						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCAAAGTCAGGGTAGGGGCCA	0.478			NA											16	28					1.56452e-12	2.30232e-12	0.007413	1	0
RIMS2	9699	broad.mit.edu	37	8	104778725	104778725	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104778725G>T	uc003ylp.2	+	3	797	c.658G>T	c.(658-660)GGC>TGC	p.G220C		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	251					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAATGGGTCAGGCGTGAAGCA	0.418			NA								HNSCC(12;0.0054)			10	44					1.58986e-06	1.9916e-06	0.008291	1	0
RIMS2	9699	broad.mit.edu	37	8	104897822	104897822	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104897822G>T	uc003yls.2	+	2	570	c.329G>T	c.(328-330)CGC>CTC	p.R110L	RIMS2_uc003ylp.2_Missense_Mutation_p.R332L|RIMS2_uc003ylw.2_Missense_Mutation_p.R140L|RIMS2_uc003ylq.2_Missense_Mutation_p.R140L|RIMS2_uc003ylr.2_Missense_Mutation_p.R140L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	363					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACCAGTCACGCTACCGAAGT	0.463			NA								HNSCC(12;0.0054)			3	16					0.004672	0.00500111	0.004672	1	0
RIMS2	9699	broad.mit.edu	37	8	104898100	104898100	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104898100G>A	uc003yls.2	+	2	848	c.607G>A	c.(607-609)GCA>ACA	p.A203T	RIMS2_uc003ylp.2_Missense_Mutation_p.A425T|RIMS2_uc003ylw.2_Missense_Mutation_p.A233T|RIMS2_uc003ylq.2_Missense_Mutation_p.A233T|RIMS2_uc003ylr.2_Missense_Mutation_p.A233T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	456					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTTCTTATGCACAAAGGAC	0.473			NA								HNSCC(12;0.0054)			5	13					0	0	0.000602	0	0
RIMS2	9699	broad.mit.edu	37	8	105261776	105261776	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:105261776C>G	uc003yls.2	+	26	3946	c.3705C>G	c.(3703-3705)GCC>GCG	p.A1235A	RIMS2_uc003ylp.2_Silent_p.A1217A|RIMS2_uc003ylw.2_Silent_p.A1224A|RIMS2_uc003ylq.2_Silent_p.A1031A|RIMS2_uc003ylr.2_Silent_p.A1056A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1279	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCCGGGCCCGTGGCCTTG	0.393			NA								HNSCC(12;0.0054)			3	35					0	0	0.001168	0	0
TM7SF4	81501	broad.mit.edu	37	8	105360857	105360858	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:105360857_105360858GG>AT	uc003ylx.1	+	2	126_127	c.77_78GG>AT	c.(76-78)TGG>TAT	p.W26Y		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	26					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCCGGATGGATGGACTTTA	0.495			NA											36	146					0	0	0.004672	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813908	106813908	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:106813908G>C	uc003ymd.2	+	8	1621	c.1598G>C	c.(1597-1599)AGT>ACT	p.S533T	ZFPM2_uc011lhs.1_Missense_Mutation_p.S264T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	533					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CATGGCAGTAGTAGCTACCCT	0.453			NA											41	177					0	0	0.007835	0	0
CSMD3	114788	broad.mit.edu	37	8	113649205	113649205	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:113649205C>A	uc003ynu.2	-	22	3715	c.3556G>T	c.(3556-3558)GGC>TGC	p.G1186C	CSMD3_uc003yns.2_Missense_Mutation_p.G458C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1146C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1082C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1186	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGAGGAATGCCAGGATCTTCA	0.423			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	136					4.35082e-09	6.02222e-09	0.010504	1	0
TRPS1	7227	broad.mit.edu	37	8	116426738	116426738	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:116426738G>C	uc003ynz.2	-	6	3818	c.3359C>G	c.(3358-3360)TCC>TGC	p.S1120C	TRPS1_uc011lhy.1_Missense_Mutation_p.S1124C|TRPS1_uc003yny.2_Missense_Mutation_p.S1133C|TRPS1_uc010mcy.2_Missense_Mutation_p.S1120C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1120	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCAGGAACGGAGAGCTTATA	0.458			NA							Langer-Giedion_syndrome				3	30					0	0	0.004672	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159363	118159363	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:118159363G>T	uc003yoh.2	+	2	472	c.242G>T	c.(241-243)TGC>TTC	p.C81F	SLC30A8_uc010mcz.2_Missense_Mutation_p.C32F|SLC30A8_uc011lia.1_Missense_Mutation_p.C32F|SLC30A8_uc003yog.2_Missense_Mutation_p.C32F	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	81	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCAGCAATATGCTTCATTTTC	0.468	Ovarian(162;1202 1922 6011 16223 52092)		NA											19	42					5.3912e-06	6.56525e-06	0.006122	1	0
MED30	90390	broad.mit.edu	37	8	118540906	118540906	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:118540906C>G	uc003yoj.2	+	2	345	c.194C>G	c.(193-195)ACT>AGT	p.T65S	MED30_uc011lib.1_Missense_Mutation_p.T65S	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	65					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AATGGTGTCACTTACCACACT	0.338	Melanoma(81;817 1341 9674 26244 29255)		NA											14	27					0	0	0.001855	0	0
FER1L6	654463	broad.mit.edu	37	8	125072897	125072897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:125072897C>T	uc003yqw.2	+	24	3300	c.3094C>T	c.(3094-3096)CAG>TAG	p.Q1032*	uc003yqy.1_RNA	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1032	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCGTGATCCAGAGCTACAA	0.547			NA											11	100					0	0	0.013537	0	0
FAM135B	51059	broad.mit.edu	37	8	139165270	139165270	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:139165270C>A	uc003yuy.2	-	13	1619	c.1448G>T	c.(1447-1449)GGT>GTT	p.G483V	FAM135B_uc003yux.2_Missense_Mutation_p.G384V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G45V|FAM135B_uc003yvb.2_Missense_Mutation_p.G45V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	483										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATTCTCACCTGGCTCTGG	0.388			NA								HNSCC(54;0.14)			59	75					3.84483e-29	6.44494e-29	0.00361	1	0
COL22A1	169044	broad.mit.edu	37	8	139635992	139635992	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:139635992C>G	uc003yvd.2	-	52	4201	c.3754G>C	c.(3754-3756)GGT>CGT	p.G1252R	COL22A1_uc011ljo.1_Missense_Mutation_p.G532R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1252	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGGGGACCCGGCTTTCCA	0.398			NA								HNSCC(7;0.00092)			138	345					0	0	0.00361	0	0
GML	2765	broad.mit.edu	37	8	143927822	143927822	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:143927822C>T	uc003yxg.2	+	4	283	c.193C>T	c.(193-195)CGT>TGT	p.R65C		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	65	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATAAATTCTCGTGAACTACT	0.343			NA											20	47					0	0	0.007413	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522481	144522481	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:144522481G>A	uc003yyd.2	-	11	2574	c.2545C>T	c.(2545-2547)CTC>TTC	p.L849F		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	849					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGCAGTGAGGGCAGCCGAG	0.597			NA											3	16					0	0	0.004672	0	0
KDM4C	23081	broad.mit.edu	37	9	6814718	6814718	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:6814718A>T	uc003zkh.2	+	4	988	c.408A>T	c.(406-408)GCA>GCT	p.A136A	KDM4C_uc010mhu.2_Silent_p.A158A|KDM4C_uc010mhw.2_Silent_p.A136A|KDM4C_uc011lmi.1_Silent_p.A136A|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Silent_p.A136A|KDM4C_uc011lmk.1_5'UTR|KDM4C_uc010mhv.2_Silent_p.A136A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	136					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						TCTATGGTGCAGATATTAATG	0.353			NA											4	35					0	0	0.000602	0	0
PTPRD	5789	broad.mit.edu	37	9	8528593	8528594	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:8528593_8528594GA>TT	uc003zkk.2	-	14	1249_1250	c.538_539TC>AA	c.(538-540)TCA>AAA	p.S180K	PTPRD_uc003zkp.2_Missense_Mutation_p.S180K|PTPRD_uc003zkq.2_Missense_Mutation_p.S180K|PTPRD_uc003zkr.2_Missense_Mutation_p.S180K|PTPRD_uc003zks.2_Missense_Mutation_p.S180K|PTPRD_uc003zkl.2_Missense_Mutation_p.S180K|PTPRD_uc003zkm.2_Missense_Mutation_p.S180K|PTPRD_uc003zkn.2_Missense_Mutation_p.S180K|PTPRD_uc003zko.2_Missense_Mutation_p.S180K|PTPRD_uc003zkt.1_Missense_Mutation_p.S180K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	180	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCCTACCTGATCGTAACTGC	0.297			NA								TSP Lung(15;0.13)			14	106					0	0	0.004672	0	0
IFNA17	3451	broad.mit.edu	37	9	21227612	21227612	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:21227612C>A	uc003zos.1	-	1	610	c.561G>T	c.(559-561)AGG>AGT	p.R187S	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	187					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCAATCCTTCCTCCTTAATA	0.373			NA											24	80					9.95505e-16	1.53611e-15	0.002299	1	0
APTX	54840	broad.mit.edu	37	9	32973624	32973624	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:32973624C>G	uc003zrm.2	-	7	1098	c.901G>C	c.(901-903)GGT>CGT	p.G301R	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.G213R|APTX_uc011lns.1_Missense_Mutation_p.G122R|APTX_uc003zrl.2_Missense_Mutation_p.G127R|APTX_uc003zrn.2_Missense_Mutation_p.G213R|APTX_uc003zro.2_Missense_Mutation_p.G301R|APTX_uc003zrp.2_Missense_Mutation_p.G213R|APTX_uc003zrq.2_Missense_Mutation_p.G213R|APTX_uc003zrr.2_Missense_Mutation_p.G247R|APTX_uc003zrs.2_Missense_Mutation_p.G301R|APTX_uc003zrt.2_Missense_Mutation_p.G213R|APTX_uc003zru.2_Missense_Mutation_p.G247R|APTX_uc003zrv.2_3'UTR|APTX_uc003zrw.2_Missense_Mutation_p.G229R|APTX_uc003zrx.2_3'UTR|APTX_uc003zry.2_Missense_Mutation_p.G301R|APTX_uc003zrz.2_Missense_Mutation_p.G122R	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	315					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GTTACTCTACCAGCCTCTTGT	0.468			NA						Direct_reversal_of_damage|Editing_and_processing_nucleases					6	42					0	0	0.006214	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625036	43625036	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:43625036C>A	uc011lrb.1	-	4	3680	c.3651G>T	c.(3649-3651)ATG>ATT	p.M1217I		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1217						integral to membrane					0						GGCAAAGTGACATTTTCTTGT	0.483			NA											75	221					2.9056e-39	4.94165e-39	0.00361	1	0
FLJ43950	347127	broad.mit.edu	37	9	84531000	84531000	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:84531000G>A	uc011lst.1	+	4	1022	c.921G>A	c.(919-921)GAG>GAA	p.E307E		NR_026851				SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein;												0						CTTTTCCGGAGATGTTATCTC	0.488			NA											3	3					0	0	0.004672	0	0
FLJ46321	389763	broad.mit.edu	37	9	84607070	84607070	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:84607070C>G	uc004amn.2	+	4	1732	c.1685C>G	c.(1684-1686)CCC>CGC	p.P562R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	562						integral to membrane					0						CAACCACTACCCTTGCCTCAA	0.507			NA											15	136					0	0	0.006122	0	0
S1PR3	1903	broad.mit.edu	37	9	91616365	91616365	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:91616365T>C	uc004aqe.2	+	2	646	c.250T>C	c.(250-252)TGC>CGC	p.C84R		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	84	Helical; Name=2; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						CCTGGCTCTCTGCGACCTGCT	0.502			NA									OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	70					0	0	0.004482	0	0
TMEFF1	8577	broad.mit.edu	37	9	103261150	103261150	+	Silent	SNP	A	A	G	rs150250818		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:103261150A>G	uc004baz.1	+	2	410	c.300A>G	c.(298-300)CAA>CAG	p.Q100Q	TMEFF1_uc004bay.1_Silent_p.Q174Q	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	100	Kazal-like 1.|Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				GTGCATGCCAATTTCAGGTGA	0.338			NA											25	37					0	0	0.003954	0	0
BAAT	570	broad.mit.edu	37	9	104124972	104124972	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:104124972T>C	uc010mtd.2	-	4	1104	c.995A>G	c.(994-996)AAC>AGC	p.N332S	BAAT_uc004bbd.3_Missense_Mutation_p.N332S	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	332					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGCTTTGCTGTTGATAGTCTT	0.478			NA											5	48					0	0	0.000602	0	0
SVEP1	79987	broad.mit.edu	37	9	113168525	113168525	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:113168525G>A	uc010mtz.2	-	38	9692	c.9355C>T	c.(9355-9357)CCC>TCC	p.P3119S	SVEP1_uc010mty.2_Missense_Mutation_p.P1045S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3119	Sushi 28.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CAGGACAAGGGCTCACAGACT	0.502			NA											44	83					0	0	0.009718	0	0
SVEP1	79987	broad.mit.edu	37	9	113261339	113261339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:113261339G>A	uc010mtz.2	-	7	2000	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	SVEP1_uc010mua.1_Nonsense_Mutation_p.Q555*|SVEP1_uc004beu.2_Nonsense_Mutation_p.Q555*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	555	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ACAGCTGCCTGAACTCCGACA	0.418			NA											3	15					0	0	0.004672	0	0
TLR4	7099	broad.mit.edu	37	9	120475965	120475965	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:120475965C>A	uc004bjz.2	+	3	1850	c.1559C>A	c.(1558-1560)TCC>TAC	p.S520Y	TLR4_uc004bka.2_Missense_Mutation_p.S480Y|TLR4_uc004bkb.2_Missense_Mutation_p.S320Y	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	520	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AACTCACTCTCCAGTCTTCAG	0.433			NA											17	37					1.99824e-07	2.60106e-07	0.00499	1	0
PBX3	5090	broad.mit.edu	37	9	128678003	128678003	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:128678003G>T	uc004bqb.2	+	3	429	c.313G>T	c.(313-315)GAT>TAT	p.D105Y	PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Missense_Mutation_p.D30Y|PBX3_uc011lzx.1_Missense_Mutation_p.D16Y|PBX3_uc004bqe.2_5'UTR	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	105					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						GGACCCTCCCGATCCCCAGCT	0.458			NA											8	39					1.06961e-07	1.41068e-07	0.00308	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136321309	136321309	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:136321309C>T	uc004cdv.3	+	26	4131	c.3687C>T	c.(3685-3687)GTC>GTT	p.V1229V	ADAMTS13_uc004cdp.3_Silent_p.V400V|ADAMTS13_uc004cdt.1_Silent_p.V1173V|ADAMTS13_uc004cdu.1_Silent_p.V1142V|ADAMTS13_uc004cdw.3_Silent_p.V1173V|ADAMTS13_uc004cdx.3_Silent_p.V1142V|ADAMTS13_uc004cdz.3_Silent_p.V899V|ADAMTS13_uc004cea.1_Silent_p.V25V|ADAMTS13_uc004ceb.3_Silent_p.V25V	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1229	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCTCCGCGTCCTTGAGAGTT	0.632			NA											10	45					0	0	0.008291	0	0
GPSM1	26086	broad.mit.edu	37	9	139250962	139250962	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:139250962A>G	uc004chd.2	+	13	2001	c.1781A>G	c.(1780-1782)GAG>GGG	p.E594G	GPSM1_uc011mdu.1_Missense_Mutation_p.E85G|GPSM1_uc004che.2_Missense_Mutation_p.E85G	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	594					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GAGCCCCAGGAGCCGGGGGAC	0.706			NA											4	36					0	0	0.001984	0	0
EHMT1	79813	broad.mit.edu	37	9	140611370	140611370	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:140611370C>G	uc011mfc.1	+	3	415	c.378C>G	c.(376-378)ATC>ATG	p.I126M	EHMT1_uc004coa.2_Missense_Mutation_p.I126M|EHMT1_uc004cob.1_Missense_Mutation_p.I95M	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	126					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGGATACATCTTAAATAAGC	0.547			NA											13	64					0	0	0.003163	0	0
ARSF	416	broad.mit.edu	37	X	2998960	2998960	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:2998960C>A	uc004cre.1	+	5	533	c.312C>A	c.(310-312)GTC>GTA	p.V104V	ARSF_uc004crf.1_Silent_p.V104V	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	104						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATAGACGTGTCATCCAAAATC	0.403			NA											14	13					2.32078e-09	3.22511e-09	0.003163	1	0
NLGN4X	57502	broad.mit.edu	37	X	5827164	5827164	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:5827164C>A	uc010ndh.2	-	4	1243	c.742G>T	c.(742-744)GTG>TTG	p.V248L	NLGN4X_uc004crp.2_Missense_Mutation_p.V268L|NLGN4X_uc004crq.2_Missense_Mutation_p.V248L|NLGN4X_uc010ndi.2_Missense_Mutation_p.V285L|NLGN4X_uc004crr.2_Missense_Mutation_p.V248L|NLGN4X_uc010ndj.2_Missense_Mutation_p.V248L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	248	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						AAGATGGTCACTCTCTTGGGG	0.592			NA											20	21					7.87624e-14	1.18909e-13	0.00278	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736249	12736249	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:12736249G>A	uc004cuz.1	+	16	3810	c.3304G>A	c.(3304-3306)GCT>ACT	p.A1102T	FRMPD4_uc011mij.1_Missense_Mutation_p.A1094T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1102					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						AGGTGGGATGGCTGAAAAAAG	0.502			NA											34	77					0	0	0.003271	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765055	27765055	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:27765055G>A	uc011mjy.1	+	1	130	c.43G>A	c.(43-45)GGG>AGG	p.G15R		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2						ACCAGACTTAGGGACTGAAAG	0.552			NA											12	6					0	0	0.013537	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938104	29938104	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:29938104T>A	uc004dby.2	+	8	1458	c.950T>A	c.(949-951)ATC>AAC	p.I317N		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	317	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GAAGTTTCCATCTCATTAATT	0.393			NA											19	61					0	0	0.012319	0	0
CXorf21	80231	broad.mit.edu	37	X	30577751	30577751	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:30577751G>T	uc004dcg.1	-	3	998	c.722C>A	c.(721-723)GCG>GAG	p.A241E		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	241										ovary(1)	1						GAGTTCAGACGCCAGAATCTG	0.438			NA											22	32					8.10497e-08	1.07502e-07	0.010504	1	0
DMD	1756	broad.mit.edu	37	X	32430021	32430021	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:32430021T>A	uc004dda.1	-	30	4325	c.4081A>T	c.(4081-4083)AGG>TGG	p.R1361W	DMD_uc004dcw.2_Missense_Mutation_p.R17W|DMD_uc004dcx.2_Missense_Mutation_p.R20W|DMD_uc004dcz.2_Missense_Mutation_p.R1238W|DMD_uc004dcy.1_Missense_Mutation_p.R1357W|DMD_uc004ddb.1_Missense_Mutation_p.R1353W|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1361	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTGCCTCCTTACAGCC	0.398			NA											14	17					0	0	0.001855	0	0
FAM47B	170062	broad.mit.edu	37	X	34961437	34961437	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:34961437G>T	uc004ddi.1	+	1	507	c.489G>T	c.(487-489)TGG>TGT	p.W163C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	163										ovary(3)|breast(1)	4						AGGACGCTTGGGCTCGTTGTG	0.587			NA											11	12					0.00829132	0.00880795	0.008291	1	0
ZNF81	347344	broad.mit.edu	37	X	47775135	47775135	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:47775135G>T	uc010nhy.1	+	6	1458	c.1090G>T	c.(1090-1092)GGG>TGG	p.G364W		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	364	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CAATGAATGTGGGAAATCATT	0.383			NA											7	16					1.06961e-07	1.41068e-07	0.00308	1	0
PAGE2	203569	broad.mit.edu	37	X	55117812	55117812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:55117812G>T	uc004duf.1	+	4	295	c.241G>T	c.(241-243)GAG>TAG	p.E81*		NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN	P antigen family, member 2	81										ovary(2)	2						GCTTAAGATAGAGGATGAGCC	0.403			NA											32	22					1.59932e-28	2.67447e-28	0.007835	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64719040	64719040	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:64719040C>T	uc010nko.2	+	3	886	c.877C>T	c.(877-879)CTT>TTT	p.L293F		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	293							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTACCGAGACCTTCAAGTTGA	0.428			NA											30	26					0	0	0.008361	0	0
HEPH	9843	broad.mit.edu	37	X	65413396	65413396	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:65413396T>A	uc011moz.1	+	8	1354	c.1294T>A	c.(1294-1296)TGG>AGG	p.W432R	HEPH_uc004dwn.2_Missense_Mutation_p.W432R|HEPH_uc004dwo.2_Missense_Mutation_p.W162R|HEPH_uc010nkr.2_Missense_Mutation_p.W432R|HEPH_uc011mpa.1_Missense_Mutation_p.W432R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	429	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GGGCACTTACTGGAAAGTGCG	0.373			NA											16	11					0	0	0.004007	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148047	70148047	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:70148047T>G	uc004dyn.2	-	5	926	c.768A>C	c.(766-768)GGA>GGC	p.G256G	SLC7A3_uc004dyo.2_Silent_p.G256G	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	256	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGTCGCTGCTCCACGGAGAA	0.517			NA											4	12					0	0	0.001168	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139127	101139127	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:101139127T>G	uc004eim.2	-	2	4257	c.759A>C	c.(757-759)ACA>ACC	p.T253T	ZMAT1_uc011mrl.1_Silent_p.T424T|ZMAT1_uc004ein.2_Silent_p.T253T|ZMAT1_uc011mrm.1_Silent_p.T253T	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	253						nucleus	zinc ion binding			ovary(1)	1						TGTTCCTGTGTGTTTCTACAG	0.408			NA											42	61					0	0	0.013114	0	0
COL4A5	1287	broad.mit.edu	37	X	107930773	107930773	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:107930773T>A	uc004enz.1	+	48	4579	c.4377T>A	c.(4375-4377)CCT>CCA	p.P1459P	COL4A5_uc011mso.1_Silent_p.P1456P|COL4A5_uc011msp.1_Silent_p.P135P	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1453	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CAGGTCCCCCTGGAACCTCCT	0.502			NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				30	65					0	0	0.009535	0	0
AMOT	154796	broad.mit.edu	37	X	112054522	112054522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:112054522C>A	uc004epr.2	-	3	1492	c.1492G>T	c.(1492-1494)GAG>TAG	p.E498*	AMOT_uc004eps.2_Nonsense_Mutation_p.E89*|AMOT_uc004ept.1_Nonsense_Mutation_p.E498*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	498	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						ATCTCGCCCTCTAGCTTGTTT	0.512			NA											82	94					1.47272e-24	2.43941e-24	0.00361	1	0
LUZP4	51213	broad.mit.edu	37	X	114540964	114540964	+	Missense_Mutation	SNP	G	G	T	rs2232735	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:114540964G>T	uc004eqa.2	+	4	571	c.537G>T	c.(535-537)CAG>CAT	p.Q179H	LUZP4_uc004eqb.2_Missense_Mutation_p.Q97H	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	179						nucleus				ovary(2)	2						CTCAAGGGCAGCTAAAGAGAC	0.458			NA											29	36					9.80776e-20	1.57964e-19	0.00632	1	0
MAP7D3	79649	broad.mit.edu	37	X	135303096	135303096	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:135303096T>A	uc004ezt.2	-	16	2405	c.2314A>T	c.(2314-2316)ACC>TCC	p.T772S	MAP7D3_uc004ezs.2_Missense_Mutation_p.T736S|MAP7D3_uc011mwc.1_Missense_Mutation_p.T754S|MAP7D3_uc010nsa.1_Missense_Mutation_p.T730S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	772						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TTAAATTTGGTAGGTGAGCCT	0.363			NA											128	113					0	0	0.00361	0	0
GPR112	139378	broad.mit.edu	37	X	135429849	135429849	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:135429849G>A	uc004ezu.1	+	6	4275	c.3984G>A	c.(3982-3984)TTG>TTA	p.L1328L	GPR112_uc010nsb.1_Silent_p.L1123L|GPR112_uc010nsc.1_Silent_p.L1095L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1328	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATGGAAATTTGGCTTCATCTC	0.443			NA											37	22					0	0	0.003755	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994298	140994298	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:140994298C>A	uc004fbt.2	+	4	1394	c.1108C>A	c.(1108-1110)CAG>AAG	p.Q370K	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	370							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.468			NA								HNSCC(15;0.026)			34	86					9.65963e-10	1.36131e-09	0.003271	1	0
AFF2	2334	broad.mit.edu	37	X	147743642	147743642	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:147743642C>A	uc004fcp.2	+	3	873	c.394C>A	c.(394-396)CCT>ACT	p.P132T	AFF2_uc004fco.2_Missense_Mutation_p.P128T|AFF2_uc004fcq.2_Missense_Mutation_p.P128T|AFF2_uc004fcr.2_Missense_Mutation_p.P128T|AFF2_uc011mxb.1_Missense_Mutation_p.P132T|AFF2_uc004fcs.2_Missense_Mutation_p.P128T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	132					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TAATACCCATCCTTCAGCACC	0.398			NA											65	168					2.18329e-32	3.68627e-32	0.00361	1	0
MAGEA10	4109	broad.mit.edu	37	X	151302988	151302988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:151302988C>A	uc004ffk.2	-	5	1513	c.1105G>T	c.(1105-1107)GAA>TAA	p.E369*	MAGEA10_uc004ffl.2_Nonsense_Mutation_p.E369*	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	369											0	Acute lymphoblastic leukemia(192;6.56e-05)					TTACTTTATTCAGGGTAGGAG	0.323			NA											18	62					3.51602e-12	5.1524e-12	0.008871	1	0
ATP2B3	492	broad.mit.edu	37	X	152814197	152814197	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:152814197C>T	uc004fht.1	+	8	1349	c.1223C>T	c.(1222-1224)CCG>CTG	p.P408L	ATP2B3_uc004fhs.1_Missense_Mutation_p.P408L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	408	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGCACGCCGGTCTATGTA	0.542			NA											32	25					0	0	0.012213	0	0
BRCC3	79184	broad.mit.edu	37	X	154299836	154299836	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:154299836G>T	uc004fna.2	+	1	127	c.34G>T	c.(34-36)GTT>TTT	p.V12F	MTCP1NB_uc004fmy.2_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzy.1_Missense_Mutation_p.V12F|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Missense_Mutation_p.V12F	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	12					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ggtgcaggcggtTCATCTCGA	0.502			NA											8	2					5.18039e-06	6.31954e-06	0.00308	1	0
AMELY	266	broad.mit.edu	37	Y	6736316	6736316	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrY:6736316G>T	uc004fra.1	-	5	389	c.377C>A	c.(376-378)CCA>CAA	p.P126Q	AMELY_uc004fqz.2_Missense_Mutation_p.P112Q	NM_001143	NP_001134	Q99218	AMELY_HUMAN	amelogenin, Y-linked precursor	126	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel				0						GTGTTGGGTTGGAGTCATGGA	0.632			NA											21	21					1.2644e-06	1.59823e-06	0.010504	1	0
EPHA8	2046	broad.mit.edu	37	1	22902862	22902870	+	In_Frame_Del	DEL	CCTGCGCGA	CCTGCGCGA	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	CCTGCGCGA	CCTGCGCGA	-	-	CCTGCGCGA	CCTGCGCGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:22902862_22902870delCCTGCGCGA	uc001bfx.1	+	3	437_445	c.312_320delCCTGCGCGA	c.(310-321)ACCCTGCGCGAC>ACC	p.LRD105del	EPHA8_uc001bfw.2_In_Frame_Del_p.LRD105del	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	105_107	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGTTTACCCTGCGCGACTGCAACAGC	0.617			NA											16	32	---	---	---	---	NA	NA	NA	NA	NA
KCNT2	343450	broad.mit.edu	37	1	196303087	196303087	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196303087delA	uc001gtd.1	-	17	1947	c.1887delT	c.(1885-1887)ATTfs	p.I629fs	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Frame_Shift_Del_p.I579fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.I629fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Del_p.I629fs|KCNT2_uc001gth.1_Frame_Shift_Del_p.I150fs	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	629	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AAACAGGAGCAATGCTAGGTC	0.418			NA											11	48	---	---	---	---	NA	NA	NA	NA	NA
CACNB2	783	broad.mit.edu	37	10	18789826	18789850	+	Frame_Shift_Del	DEL	ACATGAGGCTGCAGCATGAACAGAG	ACATGAGGCTGCAGCATGAACAGAG	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	ACATGAGGCTGCAGCATGAACAGAG	ACATGAGGCTGCAGCATGAACAGAG	-	-	ACATGAGGCTGCAGCATGAACAGAG	ACATGAGGCTGCAGCATGAACAGAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:18789826_18789850delACATGAGGCTGCAGCATGAACAGAG	uc001ipr.2	+	5	602_626	c.542_566delACATGAGGCTGCAGCATGAACAGAG	c.(541-567)AACATGAGGCTGCAGCATGAACAGAGAfs	p.N181fs	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Frame_Shift_Del_p.N181fs|CACNB2_uc001ipt.2_Frame_Shift_Del_p.N181fs|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Frame_Shift_Del_p.N153fs|CACNB2_uc001ipv.2_Frame_Shift_Del_p.N153fs|CACNB2_uc009xka.1_Frame_Shift_Del_p.N153fs|CACNB2_uc001ipw.2_Frame_Shift_Del_p.N126fs|CACNB2_uc001ipx.2_Frame_Shift_Del_p.N126fs|CACNB2_uc009xkb.1_Frame_Shift_Del_p.N127fs|CACNB2_uc010qcm.1_Frame_Shift_Del_p.N127fs|CACNB2_uc001ipz.2_Frame_Shift_Del_p.N127fs|CACNB2_uc001ipy.2_Frame_Shift_Del_p.N127fs|CACNB2_uc010qcn.1_Frame_Shift_Del_p.N133fs|CACNB2_uc010qco.1_Frame_Shift_Del_p.N133fs|CACNB2_uc001iqa.2_Frame_Shift_Del_p.N133fs	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	181_189					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAA	0.4			NA											13	58	---	---	---	---	NA	NA	NA	NA	NA
C10orf71	118461	broad.mit.edu	37	10	50530859	50530859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:50530859delC	uc010qgp.1	+	3	608	c.269delC	c.(268-270)ACGfs	p.T90fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	90											0						TCACAGGGCACGGAACATTCG	0.577			NA											19	64	---	---	---	---	NA	NA	NA	NA	NA
OR5J2	282775	broad.mit.edu	37	11	55944383	55944383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55944383delG	uc010rjb.1	+	1	290	c.290delG	c.(289-291)TGCfs	p.C97fs		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTCTCTGCTTGCATGGTACAG	0.468			NA											13	41	---	---	---	---	NA	NA	NA	NA	NA
C11orf63	79864	broad.mit.edu	37	11	122775073	122775074	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:122775073_122775074insT	uc001pym.2	+	3	1082_1083	c.785_786insT	c.(784-786)ACTfs	p.T262fs	C11orf63_uc001pyl.1_Frame_Shift_Ins_p.T262fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	262										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AACAAGCTCACTTTGGGATTAC	0.441			NA											54	311	---	---	---	---	NA	NA	NA	NA	NA
SRRM2	23524	broad.mit.edu	37	16	2813458	2813458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:2813458delA	uc002crk.2	+	11	3478	c.2929delA	c.(2929-2931)ACCfs	p.T977fs	SRRM2_uc002crj.1_Frame_Shift_Del_p.T881fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.T977fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.T881fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	977	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTCACCAGATACCAAAGTGAA	0.498			NA											25	202	---	---	---	---	NA	NA	NA	NA	NA
CLEC18B	497190	broad.mit.edu	37	16	74447479	74447479	+	Frame_Shift_Del	DEL	G	G	-	rs149591176	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:74447479delG	uc002fct.2	-	4	752	c.552delC	c.(550-552)CCCfs	p.P184fs	CLEC18B_uc002fcu.2_Frame_Shift_Del_p.P184fs|CLEC18B_uc010vmu.1_Frame_Shift_Del_p.P104fs|CLEC18B_uc010vmw.1_Frame_Shift_Del_p.P184fs|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	184						extracellular region	sugar binding				0						GGGCTTACCCGGGGGAGTAGG	0.607			NA											9	127	---	---	---	---	NA	NA	NA	NA	NA
BLMH	642	broad.mit.edu	37	17	28599581	28599582	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:28599581_28599582insT	uc002hez.1	-	9	1262_1263	c.1025_1026insA	c.(1024-1026)AATfs	p.N342fs	BLMH_uc010wbn.1_Frame_Shift_Ins_p.N255fs	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	342					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						GCACTCACAGATTCATGTCACT	0.426	Pancreas(127;628 1772 12912 33293 36203)		NA											75	278	---	---	---	---	NA	NA	NA	NA	NA
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:55028117_55028118insT	uc002iuu.2	-	2	516_517	c.485_486insA	c.(484-486)AACfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366			NA											8	279	---	---	---	---	NA	NA	NA	NA	NA
GGA3	23163	broad.mit.edu	37	17	73235600	73235601	+	In_Frame_Ins	INS	-	-	GGT	rs150787028	by1000genomes	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:73235600_73235601insGGT	uc002jni.1	-	14	1644_1645	c.1635_1636insACC	c.(1633-1638)insACC	p.545_546insT	GGA3_uc002jnj.1_In_Frame_Ins_p.512_513insT|GGA3_uc010wrw.1_In_Frame_Ins_p.423_424insT|GGA3_uc002jnk.1_In_Frame_Ins_p.473_474insT|GGA3_uc010wrx.1_In_Frame_Ins_p.423_424insT|GGA3_uc010wry.1_In_Frame_Ins_p.473_474insT	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	545_546	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGCCTGGCTGGGGTGGTGGTGG	0.673			NA									OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5	---	---	---	---	NA	NA	NA	NA	NA
ROCK1	6093	broad.mit.edu	37	18	18622550	18622550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:18622550delC	uc002kte.2	-	7	1737	c.796delG	c.(796-798)GTAfs	p.V266fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	266	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TATAAAAATACCCCAACCGAC	0.383			NA											7	35	---	---	---	---	NA	NA	NA	NA	NA
MAN2B1	4125	broad.mit.edu	37	19	12774515	12774515	+	Splice_Site	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:12774515delA	uc002mub.2	-	5	839	c.763_splice	c.e5+1	p.G255_splice	MAN2B1_uc010dyv.1_Splice_Site_p.G255_splice	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CAAGCCCCCTACCAGTGAAGA	0.398			NA											5	11	---	---	---	---	NA	NA	NA	NA	NA
PSME4	23198	broad.mit.edu	37	2	54122188	54122188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:54122188delC	uc002rxp.2	-	34	3924	c.3868delG	c.(3868-3870)GAAfs	p.E1290fs	PSME4_uc010yop.1_Frame_Shift_Del_p.E1176fs|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Frame_Shift_Del_p.E665fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.E434fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1290					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)			GGCTGCTCTTCCACACCAGCA	0.378			NA											11	153	---	---	---	---	NA	NA	NA	NA	NA
TTN	7273	broad.mit.edu	37	2	179597015	179597015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179597015delT	uc010zfg.1	-	54	13173	c.12949delA	c.(12949-12951)ACCfs	p.T4317fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.T978fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5244							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGCTGGGTGGCATCTCCC	0.408			NA											15	142	---	---	---	---	NA	NA	NA	NA	NA
SUN5	140732	broad.mit.edu	37	20	31577467	31577467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:31577467delC	uc002wyi.2	-	9	665	c.572delG	c.(571-573)GGAfs	p.G191fs		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	191					spermatogenesis					skin(1)	1						GATGTAATCTCCGTGTATCAT	0.488			NA											12	71	---	---	---	---	NA	NA	NA	NA	NA
MYH9	4627	broad.mit.edu	37	22	36737461	36737462	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:36737461_36737462insG	uc003apg.2	-	3	674_675	c.443_444insC	c.(442-444)CCTfs	p.P148fs	MYH9_uc003aph.1_Frame_Shift_Ins_p.P12fs|MYH9_uc003api.1_Frame_Shift_Ins_p.P148fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	148	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						CATAGATGTGAGGGGGCATCTC	0.53			NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				12	115	---	---	---	---	NA	NA	NA	NA	NA
PHF15	23338	broad.mit.edu	37	5	133914622	133914622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:133914622delA	uc003kzo.1	+	11	2167	c.1988delA	c.(1987-1989)GACfs	p.D663fs	PHF15_uc011cxt.1_Frame_Shift_Del_p.D707fs|PHF15_uc003kzk.2_Frame_Shift_Del_p.D723fs|PHF15_uc003kzm.2_Frame_Shift_Del_p.D664fs|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	663	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCGGGGACTGTCCCATC	0.657			NA											25	127	---	---	---	---	NA	NA	NA	NA	NA
PTCD1	26024	broad.mit.edu	37	7	99031015	99031016	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:99031015_99031016insA	uc003uqh.2	-	3	610_611	c.479_480insT	c.(478-480)GAGfs	p.E160fs	PTCD1_uc011kiw.1_Frame_Shift_Ins_p.E209fs	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	160	PPR 1.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCATCTGCCTCTCAAACAGGTC	0.604			NA											70	120	---	---	---	---	NA	NA	NA	NA	NA
AGAP3	116988	broad.mit.edu	37	7	150839627	150839628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:150839627_150839628insT	uc003wjg.1	+	16	2182_2183	c.2179_2180insT	c.(2179-2181)CTGfs	p.L727fs	AGAP3_uc003wje.1_Frame_Shift_Ins_p.L396fs|AGAP3_uc003wjj.1_Frame_Shift_Ins_p.L226fs|AGAP3_uc003wjk.1_Frame_Shift_Ins_p.L145fs	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	691	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						GCCTGAGCTGCTGGCTGTCATG	0.649			NA											17	135	---	---	---	---	NA	NA	NA	NA	NA
TEX15	56154	broad.mit.edu	37	8	30701975	30701975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:30701975delT	uc003xil.2	-	1	4559	c.4559delA	c.(4558-4560)AATfs	p.N1520fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1520										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTGGTAGTATTTTTAGTGCT	0.353			NA											23	111	---	---	---	---	NA	NA	NA	NA	NA
HRCT1	646962	broad.mit.edu	37	9	35906598	35906599	+	In_Frame_Ins	INS	-	-	CCC			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:35906598_35906599insCCC	uc003zyr.1	+	1	410_411	c.314_315insCCC	c.(313-315)CAC>CACCCC	p.106_107insP	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	106_107	His-rich.					integral to membrane					0						caccaccaccacccccaccgcc	0.386			NA											3	6	---	---	---	---	NA	NA	NA	NA	NA
ATP11C	286410	broad.mit.edu	37	X	138827926	138827926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:138827926delC	uc004faz.2	-	25	3027	c.2928delG	c.(2926-2928)GGGfs	p.G976fs	ATP11C_uc004fax.2_Frame_Shift_Del_p.G184fs|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Frame_Shift_Del_p.G976fs	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	976	Helical; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					GAAAGTAAGTCCCAAAGAAGA	0.388			NA											11	27	---	---	---	---	NA	NA	NA	NA	NA
