Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
NBPF1	55672	broad.mit.edu	37	1	16902841	16902841	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16902841C>A	uc009vos.1	-	19	2928	c.2040G>T	c.(2038-2040)AAG>AAT	p.K680N	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.K138N|NBPF1_uc010oce.1_Missense_Mutation_p.K409N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	680						cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCCTGGGACTTGTCTGGCT	0.582		NA											18	653					3.01e-09	3.34e-09	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418		NA											4	30					0	0	0	0
IGSF21	84966	broad.mit.edu	37	1	18691843	18691843	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:18691843A>C	uc001bau.1	+	6	1050	c.667A>C	c.(667-669)ACC>CCC	p.T223P	IGSF21_uc001bav.1_Missense_Mutation_p.T44P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	223						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGATGACACCAAGATGCA	0.652		NA											16	47					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34204867	34204867	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:34204867G>C	uc001bxn.1	-	15	2151	c.2122C>G	c.(2122-2124)CAG>GAG	p.Q708E	CSMD2_uc001bxm.1_Missense_Mutation_p.Q748E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	708	Sushi 4.|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)				CTGCCCAGCTGGAGGCTGTCC	0.572		NA											32	101					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:39833905C>T	uc010oiu.1	+	14	8308	c.8177C>T	c.(8176-8178)GCG>GTG	p.A2726V	MACF1_uc010ois.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdc.1_Missense_Mutation_p.A1311V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453		NA											31	48					0	0	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515807	47515807	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:47515807T>G	uc001cqt.2	+	12	1741	c.1491T>G	c.(1489-1491)AAT>AAG	p.N497K	CYP4X1_uc001cqr.2_Missense_Mutation_p.N496K|CYP4X1_uc001cqs.2_Missense_Mutation_p.N432K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	497						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						AGCCCAAGAATGGGATGTATT	0.408		NA											19	116					0	0	0	0
ALG6	29929	broad.mit.edu	37	1	63879791	63879791	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:63879791G>T	uc010oow.1	+	10	1181	c.876G>T	c.(874-876)TTG>TTT	p.L292F	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.L91F	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						AGGATATTTTGCCACGTCACA	0.274		NA											19	45					3.62e-10	4.12e-10	1	0
LPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:99772407C>T	uc001dse.2	+	7	2239	c.2133C>T	c.(2131-2133)AGC>AGT	p.S711S	LPPR4_uc010oue.1_Silent_p.S653S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	711							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522		NA											6	28					0	0	0	0
OLFM3	118427	broad.mit.edu	37	1	102269859	102269859	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:102269859T>C	uc001duf.2	-	6	1443	c.1372A>G	c.(1372-1374)AAT>GAT	p.N458D	OLFM3_uc001dug.2_Missense_Mutation_p.N438D|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.N363D|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	458	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGTGGCCATTGTTCCAGGCA	0.418		NA											54	34					0	0	0	0
TRIM33	51592	broad.mit.edu	37	1	114964164	114964164	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:114964164T>A	uc001eew.2	-	11	2039	c.1955A>T	c.(1954-1956)AAT>ATT	p.N652I	TRIM33_uc010owr.1_Missense_Mutation_p.N242I|TRIM33_uc010ows.1_Missense_Mutation_p.N260I|TRIM33_uc001eex.2_Missense_Mutation_p.N652I	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	652					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TCGGTTTGCATTTGCCATAGT	0.502		NA	T	RET	papillary thyroid								30	45					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152283935	152283935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:152283935C>A	uc001ezu.1	-	3	3463	c.3427G>T	c.(3427-3429)GGA>TGA	p.G1143*	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1143	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592		NA							Ichthyosis				12	285					1.05e-09	1.18e-09	1	0
ADAR	103	broad.mit.edu	37	1	154562371	154562371	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:154562371T>C	uc001ffh.2	-	8	2730	c.2530A>G	c.(2530-2532)ATA>GTA	p.I844V	ADAR_uc001ffj.2_Missense_Mutation_p.I799V|ADAR_uc001ffi.2_Missense_Mutation_p.I818V|ADAR_uc001ffk.2_Missense_Mutation_p.I549V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	844					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCATGGCTATCTGGTCATGG	0.552		NA											22	16					0	0	0	0
SEC16B	89866	broad.mit.edu	37	1	177909817	177909817	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:177909817C>T	uc001gli.1	-	17	2145	c.2055G>A	c.(2053-2055)CTG>CTA	p.L685L	SEC16B_uc001glk.1_Silent_p.L362L|SEC16B_uc009wwy.1_Silent_p.L240L|SEC16B_uc001glh.1_Silent_p.L344L|SEC16B_uc009wwz.1_Silent_p.L344L|SEC16B_uc001glj.1_Silent_p.L686L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	685					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						TTTCTAAAACCAGAGGATCTG	0.463		NA											7	26					0	0	0	0
CFH	3075	broad.mit.edu	37	1	196684815	196684815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:196684815G>T	uc001gtj.3	+	11	1852	c.1612G>T	c.(1612-1614)GAT>TAT	p.D538Y		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	538	Sushi 9.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGAATGCCATGATGGTTATGA	0.289		NA											27	112					3.65e-15	4.28e-15	1	0
ASPM	259266	broad.mit.edu	37	1	197111716	197111716	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:197111716T>C	uc001gtu.2	-	3	1923	c.1666A>G	c.(1666-1668)AAG>GAG	p.K556E	ASPM_uc001gtv.2_Missense_Mutation_p.K556E|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	556					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTATAACTCTTAGATTTACTT	0.353		NA											42	54					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205038984	205038984	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:205038984C>T	uc001hbr.2	+	18	2495	c.2226C>T	c.(2224-2226)GAC>GAT	p.D742D	CNTN2_uc001hbq.1_Silent_p.D633D|CNTN2_uc001hbs.2_Silent_p.D530D	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	742	Fibronectin type-III 2.				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)			AGAACGGAGACGGCTTCGGCT	0.667		NA											85	143					0	0	0	0
PFKFB2	5208	broad.mit.edu	37	1	207242833	207242833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:207242833G>A	uc001hfg.2	+	11	1161	c.1052G>A	c.(1051-1053)CGA>CAA	p.R351Q	PFKFB2_uc010psc.1_Missense_Mutation_p.R253Q|PFKFB2_uc001hfh.2_Missense_Mutation_p.R351Q|PFKFB2_uc009xcc.2_Missense_Mutation_p.R309Q|PFKFB2_uc010psd.1_Missense_Mutation_p.R165Q	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TTTGCACTTCGAGATCAAGAG	0.458		NA											14	67					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414710	213414710	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:213414710C>G	uc010ptr.1	+	11	2050	c.1891C>G	c.(1891-1893)CCA>GCA	p.P631A	RPS6KC1_uc001hkd.2_Missense_Mutation_p.P619A|RPS6KC1_uc010pts.1_Missense_Mutation_p.P419A|RPS6KC1_uc010ptt.1_Missense_Mutation_p.P419A|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P450A|RPS6KC1_uc010ptv.1_Missense_Mutation_p.P166A|RPS6KC1_uc001hke.2_Missense_Mutation_p.P450A	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	631					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCTTTGAAACCATTCTTTAC	0.403		NA											25	43					0	0	0	0
ZNF238	10472	broad.mit.edu	37	1	244217113	244217113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:244217113C>G	uc001iae.2	+	1	532	c.10C>G	c.(10-12)CCA>GCA	p.P4A	ZNF238_uc001iad.3_Missense_Mutation_p.P13A|ZNF238_uc001iaf.1_Missense_Mutation_p.P4A	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	4					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TATGGAGTTTCCAGACCATAG	0.473		NA											3	44					0	0	0	0
OR11L1	391189	broad.mit.edu	37	1	248004560	248004560	+	Silent	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248004560C>A	uc001idn.1	-	1	639	c.639G>T	c.(637-639)CTG>CTT	p.L213L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCCCAGTGTCAGAAAAAAAC	0.507		NA											28	39					1.16e-09	1.3e-09	1	0
OR2T8	343172	broad.mit.edu	37	1	248084827	248084827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248084827C>A	uc010pzc.1	+	1	508	c.508C>A	c.(508-510)CAC>AAC	p.H170N		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGCGGTGCACACGAGATCGA	0.567		NA											3	24					3.07e-06	3.31e-06	1	0
OR2T33	391195	broad.mit.edu	37	1	248436609	248436609	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr1:248436609G>T	uc010pzi.1	-	1	508	c.508C>A	c.(508-510)CAC>AAC	p.H170N		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCGATCTCGTGTGCACCACAA	0.557		NA											4	44					4.69e-08	5.12e-08	1	0
ANKRD26	22852	broad.mit.edu	37	10	27352931	27352931	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:27352931T>C	uc001ith.2	-	12	1521	c.1349A>G	c.(1348-1350)AAT>AGT	p.N450S	ANKRD26_uc001itg.2_Missense_Mutation_p.N169S|ANKRD26_uc009xku.1_Missense_Mutation_p.N450S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	450						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TGCTTGTTCATTTCCTATATT	0.323		NA											21	15					0	0	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882508	43882508	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:43882508T>C	uc009xmh.1	-	3	1312	c.825A>G	c.(823-825)AGA>AGG	p.R275R	HNRNPF_uc001jar.2_Silent_p.R275R|HNRNPF_uc001jas.2_Silent_p.R275R|HNRNPF_uc001jat.2_Silent_p.R275R|HNRNPF_uc001jav.2_Silent_p.R275R|HNRNPF_uc001jau.2_Silent_p.R275R|uc010qfa.1_Missense_Mutation_p.S64P	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TGTCGCCGTATCTGTGGTCAT	0.557		NA											19	16					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122612036	122612036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr10:122612036G>A	uc010qtf.1	+	2	325	c.87G>A	c.(85-87)TGG>TGA	p.W29*	uc001lfb.1_5'Flank|WDR11_uc010qte.1_Nonsense_Mutation_p.W29*|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	29						integral to membrane					0						GTTTTGCTAGGGGCTGGCAAG	0.363		NA											13	14					0	0	0	0
MUC6	4588	broad.mit.edu	37	11	1016020	1016020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:1016020C>T	uc001lsw.2	-	31	6832	c.6781G>A	c.(6781-6783)GCC>ACC	p.A2261T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2261	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGCAGGGGCGGTGTGGGTG	0.627		NA											37	162					0	0	0	0
OR5B17	219965	broad.mit.edu	37	11	58125655	58125655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58125655C>A	uc010rke.1	-	1	888	c.888G>T	c.(886-888)AAG>AAT	p.K296N		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTTCACGTCTT	0.368		NA											19	105					1.34e-09	1.49e-09	1	0
DDB1	1642	broad.mit.edu	37	11	61070101	61070101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:61070101G>A	uc001nrc.3	-	24	3291	c.3065C>T	c.(3064-3066)ACC>ATC	p.T1022I	DDB1_uc010rle.1_Missense_Mutation_p.T333I|DDB1_uc010rlf.1_Missense_Mutation_p.T1022I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	1022	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TTGTGTGGGGGTGGAAGTCTC	0.582		NA						NER					90	117					0	0	0	0
INTS5	80789	broad.mit.edu	37	11	62414590	62414590	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:62414590G>A	uc001nud.2	-	2	3015	c.2962C>T	c.(2962-2964)CTG>TTG	p.L988L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						ACACTGTGCAGCACAGCCAGA	0.602		NA											4	148					0	0	0	0
PRB1	5542	broad.mit.edu	37	12	11508453	11508453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:11508453G>T	uc001qzw.1	-	1	72	c.35C>A	c.(34-36)GCC>GAC	p.A12D	PRB1_uc001qzu.1_Missense_Mutation_p.A12D|PRB1_uc001qzv.1_Missense_Mutation_p.A12D	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	12						extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGAGCTCAGGGCCAGCAAGGC	0.502		NA											6	45					5.18e-06	5.57e-06	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717063	13717063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:13717063C>T	uc001rbt.2	-	13	3288	c.3109G>A	c.(3109-3111)GAC>AAC	p.D1037N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1037	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTACAGGTCACTGAGCTGG	0.582		NA											25	16					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:20523043G>A	uc001reh.1	+	1	847	c.825G>A	c.(823-825)CTG>CTA	p.L275L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627		NA											16	60					0	0	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512903	42512903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42512903C>G	uc001rms.3	-	3	610	c.385G>C	c.(385-387)GAA>CAA	p.E129Q	GXYLT1_uc001rmt.3_Missense_Mutation_p.E98Q	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	129	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						GTCATAGTTTCTTCCAGTCTT	0.378		NA											17	81					0	0	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42864075	42864075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:42864075C>A	uc010skv.1	-	3	506	c.219G>T	c.(217-219)TTG>TTT	p.L73F	PRICKLE1_uc001rnl.2_Missense_Mutation_p.L73F|PRICKLE1_uc010skw.1_Missense_Mutation_p.L73F|PRICKLE1_uc001rnm.2_Missense_Mutation_p.L73F|PRICKLE1_uc009zka.2_Missense_Mutation_p.L69F	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	73	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTAACTGGTACAAAAGCTGTT	0.398		NA											9	47					0.000274275	0.000288358	1	0
TPH2	121278	broad.mit.edu	37	12	72416243	72416243	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:72416243C>A	uc009zrw.1	+	9	1274	c.1133C>A	c.(1132-1134)GCA>GAA	p.A378E	TPH2_uc001swy.2_Missense_Mutation_p.A288E	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	378					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GCATATGGAGCAGGACTCCTT	0.428		NA											16	55					1.34e-09	1.49e-09	1	0
PLXNC1	10154	broad.mit.edu	37	12	94634413	94634413	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:94634413T>G	uc001tdc.2	+	11	2522	c.2273T>G	c.(2272-2274)CTT>CGT	p.L758R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	758	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						CATTGTTCCCTTATATTTCCT	0.403		NA											4	163					0	0	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987764	98987764	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:98987764C>G	uc001tfo.2	+	2	128	c.8C>G	c.(7-9)TCG>TGG	p.S3W	SLC25A3_uc001tfm.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfn.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfp.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.S3W|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Missense_Mutation_p.S3W|SLC25A3_uc001tft.2_Missense_Mutation_p.S3W	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	3					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGATGTTCTCGTCCGTGGCG	0.662		NA											11	29					0	0	0	0
CIT	11113	broad.mit.edu	37	12	120139472	120139472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:120139472C>T	uc001txi.1	-	42	5426	c.5373G>A	c.(5371-5373)GTG>GTA	p.V1791V	CIT_uc001txh.1_Silent_p.V1310V|CIT_uc001txj.1_Silent_p.V1833V	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1791	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCGCTGTTCACCTGCACGA	0.562		NA											7	30					0	0	0	0
CLIP1	6249	broad.mit.edu	37	12	122862371	122862371	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:122862371G>C	uc001ucg.1	-	2	328	c.222C>G	c.(220-222)ATC>ATG	p.I74M	CLIP1_uc001uch.1_Missense_Mutation_p.I74M|CLIP1_uc001uci.1_Missense_Mutation_p.I74M|CLIP1_uc010tae.1_Missense_Mutation_p.I74M	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	74					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAAGAAACTGGATAAATCCAG	0.483		NA											124	53					0	0	0	0
FAM101A	144347	broad.mit.edu	37	12	124799005	124799005	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:124799005C>T	uc001ugd.1	+	3	585	c.342C>T	c.(340-342)ACC>ACT	p.T114T	FAM101A_uc001uge.1_Silent_p.T114T	NM_181709	NP_859060	Q6ZTI6	F101A_HUMAN	hypothetical protein LOC144347	195											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCTGGTTCACCGCCAGCGTGC	0.711		NA											4	12					0	0	0	0
RHOJ	57381	broad.mit.edu	37	14	63671683	63671683	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:63671683G>C	uc001xgb.1	+	1	539	c.96G>C	c.(94-96)GTG>GTC	p.V32V		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	32	GTP (By similarity).				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGGTGCCGTGGGGAAAACCT	0.547		NA											17	21					0	0	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208842	65208842	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:65208842C>T	uc001xho.1	+	16	2876	c.2607C>T	c.(2605-2607)TCC>TCT	p.S869S	PLEKHG3_uc001xhn.1_Silent_p.S813S|PLEKHG3_uc001xhp.2_Silent_p.S990S|PLEKHG3_uc010aqh.1_Silent_p.S411S|PLEKHG3_uc001xhq.1_Silent_p.S374S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	869					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGAAAGCTCCTCTCCCACTG	0.652		NA											22	18					0	0	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256533	69256533	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:69256533T>A	uc001xkh.1	-	2	864	c.734A>T	c.(733-735)GAT>GTT	p.D245V	ZFP36L1_uc001xki.1_Missense_Mutation_p.D245V	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	245					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGGTGCCATCGGGCAGGGT	0.592		NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	111					0	0	0	0
ENTPD5	957	broad.mit.edu	37	14	74440651	74440651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:74440651C>T	uc010tuo.1	-	12	1126	c.815G>A	c.(814-816)TGT>TAT	p.C272Y	ENTPD5_uc001xpi.2_Missense_Mutation_p.C272Y	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	272					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCTCGGTAAACAGGCACTCCG	0.488		NA											15	52					0	0	0	0
TTLL5	23093	broad.mit.edu	37	14	76286467	76286467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:76286467C>G	uc001xrx.2	+	28	3494	c.3289C>G	c.(3289-3291)CAA>GAA	p.Q1097E	TTLL5_uc010ask.1_Missense_Mutation_p.Q1112E|TTLL5_uc001xrz.2_Missense_Mutation_p.Q672E|TTLL5_uc001xsa.2_Missense_Mutation_p.Q171E	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1097					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCAGACCCCCAAGCTCCCGA	0.562		NA											14	36					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94158111	94158111	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:94158111T>C	uc001ybv.1	+	45	7024	c.6941T>C	c.(6940-6942)ATG>ACG	p.M2314T	KIAA1409_uc001ybs.1_Missense_Mutation_p.M2292T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2469	Helical; (Potential).					integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GTGCTGCACATGTGCTCCCTC	0.532		NA											7	53					0	0	0	0
OCA2	4948	broad.mit.edu	37	15	28326955	28326955	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:28326955C>T	uc001zbh.3	-	2	176	c.66G>A	c.(64-66)ACG>ACA	p.T22T	OCA2_uc010ayv.2_Silent_p.T22T	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	22	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGGCACGGACGTCTGCAGGA	0.701		NA							Oculocutaneous_Albinism				17	9					0	0	0	0
THBS1	7057	broad.mit.edu	37	15	39884807	39884807	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:39884807C>G	uc001zkh.2	+	17	2750	c.2571C>G	c.(2569-2571)GAC>GAG	p.D857E	THBS1_uc010bbi.2_Missense_Mutation_p.D329E	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	857	TSP type-3 6.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATACCTGTGACAACAATCAGG	0.443		NA											4	5					0	0	0	0
CILP	8483	broad.mit.edu	37	15	65491100	65491100	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:65491100G>A	uc002aon.2	-	9	1705	c.1524C>T	c.(1522-1524)GGC>GGT	p.G508G		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	508					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGTACACATGGCCAAAGCGCA	0.597		NA											4	37					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092702	79092702	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79092702G>A	uc002bej.3	-	2	499	c.288C>T	c.(286-288)ACC>ACT	p.T96T	ADAMTS7_uc010und.1_Silent_p.T96T|ADAMTS7_uc002bek.1_Silent_p.T96T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	96					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GCTGATTGGCGGTCAGGTTGA	0.587		NA											4	6					0	0	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294032	79294032	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr15:79294032G>T	uc002beq.2	-	17	2970	c.2595C>A	c.(2593-2595)CCC>CCA	p.P865P	RASGRF1_uc002bep.2_Silent_p.P849P|RASGRF1_uc010blm.1_Silent_p.P774P|RASGRF1_uc002ber.3_Silent_p.P849P|RASGRF1_uc010unh.1_Silent_p.P260P|RASGRF1_uc002beo.2_Silent_p.P81P	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	867					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TGACTGATTTGGGTGTTGTTG	0.408		NA											24	93					2.49e-11	2.85e-11	1	0
ZNF500	26048	broad.mit.edu	37	16	4815844	4815844	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:4815844G>C	uc002cxp.1	-	2	383	c.136C>G	c.(136-138)CCT>GCT	p.P46A	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.P46A	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AAAGTCTCAGGGCTGGGGTCC	0.642		NA											14	46					0	0	0	0
GPRC5B	51704	broad.mit.edu	37	16	19871833	19871833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:19871833G>A	uc002dgt.2	-	4	1309	c.1201C>T	c.(1201-1203)CAC>TAC	p.H401Y	GPRC5B_uc010vav.1_Missense_Mutation_p.H427Y	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	401	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						CACCAAAGGTGTCTTCCTGTG	0.443		NA											15	33					0	0	0	0
VPS35	55737	broad.mit.edu	37	16	46716023	46716023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr16:46716023G>A	uc002eef.3	-	3	266	c.167C>T	c.(166-168)TCT>TTT	p.S56F	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S17F	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	56					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGATAACATAGAAGTCCGGAG	0.338		NA											18	35					0	0	0	0
GPR172B	55065	broad.mit.edu	37	17	4937602	4937602	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:4937602C>A	uc002gap.3	-	3	895	c.182G>T	c.(181-183)GGT>GTT	p.G61V	GPR172B_uc002gao.3_Missense_Mutation_p.G61V|GPR172B_uc010ckw.2_5'UTR|GPR172B_uc010ckx.2_Missense_Mutation_p.G61V	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	61	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0						CACCAGCAGACCCAGGTTTCC	0.627		NA											30	54					4.34e-12	5.02e-12	1	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:7579415C>T	uc002gim.2	-	4	466	c.272G>A	c.(271-273)TGG>TAG	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632		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-Fraumeni_syndrome|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)			81	17					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11660996	11660996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:11660996A>G	uc002gne.2	+	35	7050	c.6982A>G	c.(6982-6984)ACA>GCA	p.T2328A	DNAH9_uc010coo.2_Missense_Mutation_p.T1622A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2328	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCTAGACACACTCAGAAC	0.468		NA											20	15					0	0	0	0
ATAD5	79915	broad.mit.edu	37	17	29162894	29162894	+	Silent	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:29162894A>C	uc002hfs.1	+	2	2141	c.1795A>C	c.(1795-1797)AGA>CGA	p.R599R	ATAD5_uc002hft.1_Silent_p.R496R	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	599					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGATCTGGAAGAATTAGCAG	0.398		NA											24	87					0	0	0	0
STAC2	342667	broad.mit.edu	37	17	37369370	37369370	+	Silent	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:37369370G>T	uc002hrs.2	-	10	1228	c.1009C>A	c.(1009-1011)CGG>AGG	p.R337R	STAC2_uc010cvt.2_Silent_p.R195R	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	337	SH3.				intracellular signal transduction		metal ion binding			pancreas(1)	1						AAGCCAACCCGGTCGCCGATC	0.607		NA											28	32					1.77e-15	2.09e-15	1	0
WNT3	7473	broad.mit.edu	37	17	44845973	44845973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:44845973C>G	uc002ikv.2	-	4	900	c.781G>C	c.(781-783)GCC>CCC	p.A261P		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	261					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGTACTTGGCCCGGAGGGTC	0.592		NA											51	60					0	0	0	0
COL1A1	1277	broad.mit.edu	37	17	48273527	48273527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:48273527C>T	uc002iqm.2	-	15	1117	c.991G>A	c.(991-993)GCC>ACC	p.A331T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	331	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGCCCGGCAGCACCAGTA	0.612		NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						11	19					0	0	0	0
MED13	9969	broad.mit.edu	37	17	60087936	60087936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:60087936G>T	uc002izo.2	-	9	2019	c.1942C>A	c.(1942-1944)CAG>AAG	p.Q648K	MED13_uc002izp.2_Missense_Mutation_p.Q264K	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	648					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						ACACTTTCCTGTCCAAAAGGT	0.348		NA											8	38					1.13e-05	1.21e-05	1	0
GH2	2689	broad.mit.edu	37	17	61958159	61958159	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:61958159T>C	uc002jco.1	-	4	491	c.429A>G	c.(427-429)CTA>CTG	p.L143L	GH2_uc002jcj.2_Silent_p.L143L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L143L|GH2_uc002jcm.1_Silent_p.L143L|GH2_uc002jcn.1_Silent_p.L128L	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	143						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						TGCCTTCCTCTAGGTCCTTCA	0.617		NA											39	71					0	0	0	0
CCDC46	201134	broad.mit.edu	37	17	63898393	63898393	+	Silent	SNP	G	G	A	rs140758713		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:63898393G>A	uc002jfl.2	-	20	2259	c.2040C>T	c.(2038-2040)AAC>AAT	p.N680N	CCDC46_uc010deo.2_Silent_p.N422N|CCDC46_uc002jfm.2_Silent_p.N680N|CCDC46_uc010dep.2_Silent_p.N638N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	680	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CCTTCTCTGCGTTATGCTGCT	0.463		NA											22	35					0	0	0	0
FBF1	85302	broad.mit.edu	37	17	73915827	73915827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:73915827G>A	uc002jqc.2	-	19	2289	c.2015C>T	c.(2014-2016)ACG>ATG	p.T672M	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.T663M|FBF1_uc002jqd.1_Missense_Mutation_p.T673M|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Translation_Start_Site	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	672											0						GTGCTGGGCCGTAAGCTCAGC	0.667		NA											3	37					0	0	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089205	76089205	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:76089205G>C	uc002jud.2	+	16	4762	c.4162G>C	c.(4162-4164)GAA>CAA	p.E1388Q	TNRC6C_uc002juf.2_Missense_Mutation_p.E1385Q	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1388	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGCCCCCAGGTAAGACCAT	0.522		NA											10	13					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr17:78351573G>A	uc002jyh.1	+	29	7964	c.7741G>A	c.(7741-7743)GGC>AGC	p.G2581S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G963S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532		NA											68	106					0	0	0	0
FAM59A	64762	broad.mit.edu	37	18	29848299	29848299	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr18:29848299G>A	uc002kxl.2	-	6	2222	c.2166C>T	c.(2164-2166)TGC>TGT	p.C722C	FAM59A_uc002kxk.1_Silent_p.C721C	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	722										ovary(1)|skin(1)	2						GTAAGGCAGGGCATGACGTAC	0.532		NA											13	72					0	0	0	0
CILP2	148113	broad.mit.edu	37	19	19655287	19655287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:19655287G>A	uc002nmv.3	+	8	2018	c.1933G>A	c.(1933-1935)GTG>ATG	p.V645M	CILP2_uc002nmw.3_Missense_Mutation_p.V651M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	645						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CATGTTCTCCGTGGACCTCCG	0.731		NA											25	43					0	0	0	0
ZNF431	170959	broad.mit.edu	37	19	21365730	21365730	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:21365730A>G	uc002npp.2	+	5	771	c.624A>G	c.(622-624)AAA>AAG	p.K208K	ZNF431_uc010ecq.2_Silent_p.K117K|ZNF431_uc010ecr.2_Silent_p.K209K	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	208	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						AATGTAAAAAATGTGGCAAAT	0.284		NA											12	32					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:31039034C>A	uc002nsu.1	+	4	2646	c.2508C>A	c.(2506-2508)GAC>GAA	p.D836E	ZNF536_uc010edd.1_Missense_Mutation_p.D836E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582		NA											27	57					3.65e-15	4.28e-15	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52148741	52148741	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52148741C>A	uc002pxf.3	-	4	863	c.743G>T	c.(742-744)GGC>GTC	p.G248V		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	248	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTGCCTGTGCCATTTCTGAA	0.552		NA											14	44					1.58e-08	1.75e-08	1	0
ZNF534	147658	broad.mit.edu	37	19	52941671	52941671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:52941671C>A	uc002pzk.2	+	4	1058	c.997C>A	c.(997-999)CAT>AAT	p.H333N	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.H320N	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	333	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTTGTAATCCATACTGGAGA	0.418		NA											11	10					0.000978159	0.00102338	1	0
PRKCG	5582	broad.mit.edu	37	19	54409991	54409991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr19:54409991T>C	uc002qcq.1	+	18	2218	c.1936T>C	c.(1936-1938)TTC>CTC	p.F646L	PRKCG_uc010yeg.1_Missense_Mutation_p.F646L|PRKCG_uc010yeh.1_Missense_Mutation_p.F497L	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	646	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTTTGACAAGTTCTTCACGCG	0.647		NA									OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	125					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27804812	27804812	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:27804812C>T	uc002rkz.3	+	1	5424	c.5373C>T	c.(5371-5373)CAC>CAT	p.H1791H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1791	20.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAAGCCATCACAGTCCCTCTG	0.542		NA											27	150					0	0	0	0
ADD2	119	broad.mit.edu	37	2	70901925	70901925	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:70901925G>A	uc002sgz.2	-	14	2091	c.1626C>T	c.(1624-1626)GAC>GAT	p.D542D	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.D542D|ADD2_uc002sha.2_Silent_p.D236D|ADD2_uc002sgx.2_Silent_p.D542D|ADD2_uc010fdt.1_Silent_p.D542D	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	542					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TGGTATCCTCGTCTCCCTTGG	0.557		NA											46	30					0	0	0	0
CCT7	10574	broad.mit.edu	37	2	73470213	73470213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:73470213C>T	uc002siz.2	+	4	451	c.349C>T	c.(349-351)CAC>TAC	p.H117Y	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Missense_Mutation_p.H73Y|CCT7_uc010feu.2_Intron|CCT7_uc010yrg.1_Missense_Mutation_p.H17Y|CCT7_uc010yrh.1_Silent_p.Y6Y|CCT7_uc010yri.1_Missense_Mutation_p.H30Y	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	117					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GGAAGGTTTACACCCCCAGAT	0.517		NA											6	74					0	0	0	0
MOGS	7841	broad.mit.edu	37	2	74689333	74689333	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74689333G>T	uc010ffj.2	-	4	1746	c.1583C>A	c.(1582-1584)CCT>CAT	p.P528H	MOGS_uc010ffh.2_Missense_Mutation_p.P253H|MOGS_uc010yrt.1_Missense_Mutation_p.P409H|MOGS_uc010ffi.2_Missense_Mutation_p.P422H	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	528	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						CAAGTCGTCAGGGTCACCAAC	0.597		NA											24	86					4.81e-24	5.73e-24	1	0
ANKRD36	375248	broad.mit.edu	37	2	97860475	97860475	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:97860475A>G	uc010yva.1	+	39	2706	c.2462A>G	c.(2461-2463)AAA>AGA	p.K821R	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	821											0						TCTTCTCGGAAAAAACCAGCC	0.333		NA											8	9					0	0	0	0
POTEE	445582	broad.mit.edu	37	2	132021743	132021743	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:132021743G>C	uc002tsn.2	+	15	2767	c.2715G>C	c.(2713-2715)GAG>GAC	p.E905D	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E505D|POTEE_uc002tsl.2_Missense_Mutation_p.E487D|POTEE_uc010fmy.1_Missense_Mutation_p.E369D	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	905	Actin-like.						ATP binding				0						CCATGGCCGAGCGGGAAATCG	0.602		NA											9	141					0	0	0	0
PRKRA	8575	broad.mit.edu	37	2	179309173	179309173	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179309173C>T	uc002umf.2	-	4	573	c.372G>A	c.(370-372)CAG>CAA	p.Q124Q	PRKRA_uc002umc.2_5'Flank|PRKRA_uc002umd.2_Silent_p.Q99Q|PRKRA_uc002ume.2_Silent_p.Q113Q|PRKRA_uc002umg.2_Silent_p.Q11Q	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	124	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAGGATTAAGCTGGTTCTTTG	0.358		NA											24	31					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179430729	179430729	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:179430729A>G	uc010zfg.1	-	275	72650	c.72426T>C	c.(72424-72426)GAT>GAC	p.D24142D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D17837D|TTN_uc010zfi.1_Silent_p.D17770D|TTN_uc010zfj.1_Silent_p.D17645D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25069							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)			TTGCCCCTCCATCAATGATGG	0.433		NA											33	132					0	0	0	0
ORC2L	4999	broad.mit.edu	37	2	201798644	201798644	+	Silent	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201798644G>C	uc002uwr.2	-	10	1019	c.762C>G	c.(760-762)ACC>ACG	p.T254T	ORC2L_uc010zhj.1_Silent_p.T254T	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	254					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						TTCTATCAGAGGTTAAAACTT	0.343		NA											8	84					0	0	0	0
NDUFB3	4709	broad.mit.edu	37	2	201943659	201943659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:201943659T>G	uc002uwx.3	+	2	377	c.54T>G	c.(52-54)GAT>GAG	p.D18E		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	18					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	AACTTCCAGATTATAGACAAT	0.408		NA											4	49					0	0	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115525	220115525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:220115525G>A	uc002vkt.1	-	4	954	c.896C>T	c.(895-897)GCC>GTC	p.A299V	TUBA4A_uc010zkz.1_Missense_Mutation_p.A284V|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	299					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTGGTTGGCAGGCTCAAA	0.572		NA											18	83					0	0	0	0
CUL3	8452	broad.mit.edu	37	2	225400286	225400286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:225400286G>A	uc002vny.2	-	3	721	c.337C>T	c.(337-339)CAA>TAA	p.Q113*	CUL3_uc010zls.1_Nonsense_Mutation_p.Q47*|CUL3_uc010fwy.1_Nonsense_Mutation_p.Q119*	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	113					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATAGCTGTTTGATGATCATTC	0.328		NA											20	8					0	0	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660784	233660784	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:233660784A>G	uc002vti.3	+	16	1829	c.1492A>G	c.(1492-1494)ATG>GTG	p.M498V	GIGYF2_uc010zmj.1_Missense_Mutation_p.M498V|GIGYF2_uc002vtg.2_Missense_Mutation_p.M492V|GIGYF2_uc002vtj.3_Missense_Mutation_p.M519V|GIGYF2_uc002vtk.3_Missense_Mutation_p.M498V|GIGYF2_uc002vth.3_Missense_Mutation_p.M492V|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.M329V	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	498					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCTGAGAAAATGGTGGCTTA	0.383		NA											14	64					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10639359	10639359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:10639359T>C	uc002wnw.2	-	4	967	c.451A>G	c.(451-453)ATT>GTT	p.I151V		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	151	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TTTTCAATAATACTGTCAGGT	0.448		NA							Alagille_Syndrome				16	80					0	0	0	0
ID1	3397	broad.mit.edu	37	20	30193543	30193543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr20:30193543C>T	uc002wwg.1	+	1	452	c.353C>T	c.(352-354)CCC>CTC	p.P118L	ID1_uc002wwh.1_Missense_Mutation_p.P118L|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	118					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTGGAACCCCCGGGGGCCGA	0.622		NA											4	17					0	0	0	0
HLCS	3141	broad.mit.edu	37	21	38308946	38308946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr21:38308946C>T	uc010gnb.2	-	4	2000	c.799G>A	c.(799-801)GTC>ATC	p.V267I	HLCS_uc002yvs.2_Missense_Mutation_p.V267I|HLCS_uc010gnc.1_Missense_Mutation_p.V414I	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	267					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTCTGGACTGTCTTGTGC	0.572		NA											18	44					0	0	0	0
CRYBB3	1417	broad.mit.edu	37	22	25598707	25598707	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:25598707C>A	uc003abo.1	+	3	214	c.142C>A	c.(142-144)CTG>ATG	p.L48M		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	48	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens				0						GTGCCCCAGCCTGACCGACAG	0.587		NA									OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	34					9.63e-23	1.14e-22	1	0
SSTR3	6753	broad.mit.edu	37	22	37603421	37603421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:37603421C>T	uc003ara.2	-	2	484	c.422G>A	c.(421-423)CGC>CAC	p.R141H	SSTR3_uc003arb.2_Missense_Mutation_p.R141H	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	141	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GGCCAGGTAGCGGTCCACGCT	0.667		NA											61	71					0	0	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987418	50987418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr22:50987418C>T	uc003bmi.2	+	1	957	c.823C>T	c.(823-825)CGG>TGG	p.R275W		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	275										central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCCTGCGGACCGGCCG	0.746		NA											10	5					0	0	0	0
SMARCC1	6599	broad.mit.edu	37	3	47680266	47680266	+	Silent	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:47680266T>C	uc003crq.2	-	22	2443	c.2325A>G	c.(2323-2325)GGA>GGG	p.G775G	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.G666G	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	775	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTCTTCAGCTCCTTCTACAA	0.328		NA											46	22					0	0	0	0
GPR27	2850	broad.mit.edu	37	3	71804252	71804252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:71804252C>T	uc011bge.1	+	1	1052	c.1052C>T	c.(1051-1053)GCC>GTC	p.A351V	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	351	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGCTTCAGGGCCCAGTTCCCC	0.657		NA											9	5					0	0	0	0
OR5H2	79310	broad.mit.edu	37	3	98002139	98002139	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:98002139A>G	uc003dsj.1	+	1	408	c.408A>G	c.(406-408)CTA>CTG	p.L136L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						AACCTTTACTATATCCAGTGA	0.368		NA											22	76					0	0	0	0
KLF15	28999	broad.mit.edu	37	3	126071260	126071260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:126071260G>A	uc011bkk.1	-	2	688	c.506C>T	c.(505-507)GCC>GTC	p.A169V		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	169						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CTGGCTGCAGGCATCCAAGTC	0.612		NA											25	22					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155199435	155199435	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:155199435C>A	uc011bok.1	-	23	4681	c.4404G>T	c.(4402-4404)ATG>ATT	p.M1468I	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.M1430I	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1468					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGGGACATGCATATCTTGAG	0.473		NA											14	121					4.38e-07	4.76e-07	1	0
NLGN1	22871	broad.mit.edu	37	3	173998976	173998976	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:173998976C>T	uc003fio.1	+	7	2778	c.2355C>T	c.(2353-2355)CCC>CCT	p.P785P	NLGN1_uc003fip.1_Silent_p.P785P	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	802	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGATTCCCAACACTATAC	0.483		NA											18	77					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	31					0	0	0	0
C3orf21	152002	broad.mit.edu	37	3	194790786	194790786	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:194790786C>T	uc003fum.3	-	4	948	c.840G>A	c.(838-840)CCG>CCA	p.P280P	C3orf21_uc003ful.2_Silent_p.P77P|C3orf21_uc003fuk.2_Silent_p.P74P	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	280						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CCTCGGGGGGCGGGCCCCCAA	0.677		NA											22	87					0	0	0	0
DLG1	1739	broad.mit.edu	37	3	196865135	196865135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:196865135A>C	uc003fxo.3	-	10	1130	c.940T>G	c.(940-942)TCA>GCA	p.S314A	DLG1_uc011bub.1_Missense_Mutation_p.S198A|DLG1_uc011buc.1_Missense_Mutation_p.S198A|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.S314A|DLG1_uc011bue.1_Missense_Mutation_p.S281A|DLG1_uc010ial.2_Missense_Mutation_p.S314A|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S281A|DLG1_uc010ian.2_Missense_Mutation_p.S181A	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	314					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTTTCTGACACTGGTTTC	0.338		NA											69	44					0	0	0	0
TXK	7294	broad.mit.edu	37	4	48096214	48096215	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:48096214_48096215CC>AA	uc003gxx.3	-	8	674_675	c.588_589GG>TT	c.(586-591)ACGGAG>ACTTAG	p.E197*	TXK_uc003gxy.1_Nonsense_Mutation_p.E197*	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	197	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ATGGCAGCCTCCGTACTTCTAC	0.371		NA											4	30					0	0	0	0
USP46	64854	broad.mit.edu	37	4	53470719	53470719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:53470719C>T	uc003gzn.2	-	6	855	c.670G>A	c.(670-672)GAA>AAA	p.E224K	USP46_uc003gzm.3_Missense_Mutation_p.E217K|USP46_uc011bzr.1_Missense_Mutation_p.E201K|USP46_uc011bzs.1_Missense_Mutation_p.E108K	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	224					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			TATTTTTGTTCACTACACAGT	0.294		NA											21	13					0	0	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796456	69796456	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:69796456G>C	uc003hef.2	-	5	1143	c.1112C>G	c.(1111-1113)ACT>AGT	p.T371S	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	371	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TCCACCATGAGTGATAAAAGC	0.358		NA											11	5					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134072873	134072873	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:134072873C>T	uc003iha.2	+	1	2404	c.1578C>T	c.(1576-1578)TAC>TAT	p.Y526Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y526Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	526	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTACTTGTACGCCCTGCGCT	0.592		NA											18	52					0	0	0	0
PRKAA1	5562	broad.mit.edu	37	5	40777689	40777689	+	Splice_Site	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:40777689C>G	uc003jmc.2	-	2	134	c.128_splice	c.e2-1	p.V43_splice	PRKAA1_uc003jmb.2_Splice_Site_p.V43_splice	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic						activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTTTGCCAACTGTAAAAGAA	0.264		NA											36	14					0	0	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379827	145379827	+	Silent	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:145379827C>G	uc003lnt.2	+	3	823	c.585C>G	c.(583-585)CTC>CTG	p.L195L	SH3RF2_uc011dbl.1_Silent_p.L195L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	195	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGGCCCTCTACAACTTCG	0.602		NA											14	11					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150924395	150924395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr5:150924395T>C	uc003lue.3	-	9	6306	c.6293A>G	c.(6292-6294)GAC>GGC	p.D2098G	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2098	Extracellular (Potential).|Cadherin 18.				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)			TGTCCCCAAGTCCTCATCAGT	0.448		NA											49	18					0	0	0	0
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr6:46661854G>T	uc003oyj.2	+	1	5989	c.5989G>T	c.(5989-5991)GAG>TAG	p.E1997*	TDRD6_uc010jze.2_Nonsense_Mutation_p.E1991*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TTTGTTCTCTGAGGAAGAAAG	0.313		NA											11	124					0.00244969	0.00255053	1	0
C7orf25	79020	broad.mit.edu	37	7	42949873	42949873	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:42949873C>G	uc003thw.2	-	2	1091	c.627G>C	c.(625-627)GAG>GAC	p.E209D	C7orf25_uc010kxq.2_Missense_Mutation_p.E209D|C7orf25_uc003thx.3_Missense_Mutation_p.E267D|C7orf25_uc010kxr.2_Missense_Mutation_p.E267D	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	209										skin(1)	1						CTGATTCACTCTCACTTGGTT	0.458		NA											27	25					0	0	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762231	92762231	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:92762231C>A	uc003umh.1	-	5	4270	c.3054G>T	c.(3052-3054)GAG>GAT	p.E1018D	SAMD9L_uc003umj.1_Missense_Mutation_p.E1018D|SAMD9L_uc003umi.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1018D|SAMD9L_uc003umk.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1018D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1018D|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1018										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAATAAATTCTCTTCTAATA	0.363		NA											22	55					5.35e-11	6.12e-11	1	0
CALCR	799	broad.mit.edu	37	7	93106945	93106945	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:93106945A>G	uc003umv.1	-	5	556	c.295T>C	c.(295-297)TGC>CGC	p.C99R	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.C81R|CALCR_uc003umw.2_Missense_Mutation_p.C81R	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	81	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCATCCCAGCACAGCCATCCA	0.418		NA											16	27					0	0	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917380	99917380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:99917380C>A	uc003uug.1	+	4	648	c.408C>A	c.(406-408)TTC>TTA	p.F136L	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	513											0						GGTTCCAGTTCTTCTGTTCCA	0.607		NA											32	66					4.75e-14	5.55e-14	1	0
SRPK2	6733	broad.mit.edu	37	7	104808499	104808499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:104808499G>A	uc003vct.2	-	4	536	c.349C>T	c.(349-351)CAT>TAT	p.H117Y	SRPK2_uc003vcu.2_Missense_Mutation_p.H117Y|SRPK2_uc003vcv.2_Missense_Mutation_p.H128Y|SRPK2_uc003vcw.1_Missense_Mutation_p.H117Y	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	117	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TCCGTATAATGCTGGGCACTT	0.279		NA											14	27					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149480698	149480698	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:149480698T>C	uc010lpk.2	+	17	2404	c.2404T>C	c.(2404-2406)TCT>CCT	p.S802P	SSPO_uc010lpl.1_Missense_Mutation_p.S137P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	802					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGTGCTGTCTGCCTATGC	0.637		NA											37	82					0	0	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767472	154767472	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:154767472C>T	uc003wlp.2	-	6	1051	c.1008G>A	c.(1006-1008)CGG>CGA	p.R336R	PAXIP1_uc003wlq.1_Silent_p.R302R|PAXIP1_uc011kvs.1_Silent_p.R300R|PAXIP1_uc003wlr.1_Silent_p.R245R	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	336					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCCTCAGTGTCCGTACAGCTG	0.428		NA											20	17					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2820154	2820154	+	Silent	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:2820154G>A	uc011kwk.1	-	61	9855	c.9465C>T	c.(9463-9465)TTC>TTT	p.F3155F	CSMD1_uc011kwj.1_Silent_p.F2484F|CSMD1_uc010lrg.2_Silent_p.F1046F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3155	Extracellular (Potential).|Sushi 26.					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)		GGTCTCCGCAGAACACAGCTA	0.463		NA											3	14					0	0	0	0
PDE7A	5150	broad.mit.edu	37	8	66691976	66691976	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:66691976T>C	uc003xvq.2	-	3	274	c.262A>G	c.(262-264)ATT>GTT	p.I88V	PDE7A_uc003xvr.2_Missense_Mutation_p.I88V|PDE7A_uc003xvp.2_Missense_Mutation_p.I62V	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	88						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGAAAATCAATATATGGGTGA	0.348		NA											20	139					0	0	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576729	67576729	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:67576729G>C	uc003xwn.2	-	1	2724	c.2465C>G	c.(2464-2466)CCT>CGT	p.P822R		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	822					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTCTTTAGGAGGAAACCCGTA	0.383		NA											28	125					0	0	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858165	133858165	+	Silent	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:133858165A>G	uc003ytt.2	+	21	3376	c.3051A>G	c.(3049-3051)GTA>GTG	p.V1017V	PHF20L1_uc011lja.1_Silent_p.V991V	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	1017							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTGCTCTGTATGACAACAGT	0.388		NA											21	13					0	0	0	0
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr8:145108284G>T	uc003zar.3	-	20	2781	c.2699C>A	c.(2698-2700)GCC>GAC	p.A900D	OPLAH_uc003zas.1_Silent_p.G174G	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	900							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCCCGCAGGGCCTCCGTCAC	0.647		NA											8	93					0.00621372	0.00637684	1	0
MPDZ	8777	broad.mit.edu	37	9	13147652	13147652	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:13147652A>T	uc010mia.1	-	25	3693	c.3636T>A	c.(3634-3636)GAT>GAA	p.D1212E	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.D104E|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.D1212E|MPDZ_uc010mhz.2_Missense_Mutation_p.D1212E|MPDZ_uc011lmn.1_Missense_Mutation_p.D1212E|MPDZ_uc003zlb.3_Missense_Mutation_p.D1212E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1212	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTCCATTCCATCCACCTGCA	0.428		NA											24	19					0	0	0	0
ANKS6	203286	broad.mit.edu	37	9	101552737	101552738	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:101552737_101552738CC>AA	uc004ayu.2	-	2	531_532	c.510_511GG>TT	c.(508-513)GTGGAC>GTTTAC	p.D171Y	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	171	ANK 4.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TGGTGATGGTCCACAAAGGCAC	0.649		NA											7	11					0	0	0	0
PRPF4	9128	broad.mit.edu	37	9	116038996	116038996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr9:116038996A>G	uc004bgx.2	+	2	249	c.199A>G	c.(199-201)ATA>GTA	p.I67V	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.2_Missense_Mutation_p.I66V	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	67						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						AAATATTAATATAACCTCTGG	0.388		NA											87	101					0	0	0	0
ESX1	80712	broad.mit.edu	37	X	103495254	103495254	+	Silent	SNP	C	C	T			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:103495254C>T	uc004ely.2	-	4	934	c.876G>A	c.(874-876)GCG>GCA	p.A292A		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	292	6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTGGCACAGGCGCCATGCGTG	0.612		NA											12	15					0	0	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869581	151869581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chrX:151869581G>A	uc004ffq.1	+	3	465	c.271G>A	c.(271-273)GAA>AAA	p.E91K	MAGEA6_uc004ffr.1_Missense_Mutation_p.E91K|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	91							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAACCAAGAAGAGGAGGG	0.557		NA											14	27					0	0	0	0
DTX4	23220	broad.mit.edu	37	11	58956754	58956755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr11:58956754_58956755insC	uc001nns.2	+	4	1374_1375	c.1117_1118insC	c.(1117-1119)TCCfs	p.S373fs	DTX4_uc001nnr.2_Frame_Shift_Ins_p.S267fs	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	373					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCCAGGGGTTTCCAACACAAGC	0.465		NA											2	4	---	---	---	---	NA	NA	NA	NA
PTPRB	5787	broad.mit.edu	37	12	71029580	71029580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr12:71029580delA	uc001swc.3	-	2	366	c.322delT	c.(322-324)TCTfs	p.S108fs	PTPRB_uc001swa.3_Frame_Shift_Del_p.S108fs|PTPRB_uc001swd.3_Frame_Shift_Del_p.S107fs|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Frame_Shift_Del_p.S108fs	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAAGAGAGAGGCATTTTCC	0.532		NA											18	16	---	---	---	---	NA	NA	NA	NA
JUB	84962	broad.mit.edu	37	14	23450638	23450639	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr14:23450638_23450639insC	uc001whz.2	-	1	1213_1214	c.837_838insG	c.(835-840)GAGCTAfs	p.E279fs		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	279_280	PreLIM.|Nuclear localization signal (Potential).				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		AAAGCTGTTAGCTCGTCCTGGT	0.713		NA											13	9	---	---	---	---	NA	NA	NA	NA
TET3	200424	broad.mit.edu	37	2	74274034	74274049	+	Frame_Shift_Del	DEL	GATCTCTCCCCAAGAG	GATCTCTCCCCAAGAG	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:74274034_74274049delGATCTCTCCCCAAGAG	uc002skb.3	+	1	585_600	c.585_600delGATCTCTCCCCAAGAG	c.(583-600)CAGATCTCTCCCCAAGAGfs	p.Q195fs	TET3_uc010fez.1_Frame_Shift_Del_p.Q195fs	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	195_200							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCC	0.644		NA											13	16	---	---	---	---	NA	NA	NA	NA
PPP1R1C	151242	broad.mit.edu	37	2	182981993	182981993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr2:182981993delA	uc002uoo.2	+	5	588	c.301delA	c.(301-303)AATfs	p.N101fs	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Frame_Shift_Del_p.N101fs|PPP1R1C_uc010frm.1_Frame_Shift_Del_p.N108fs|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	101					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGAAGGCACCAATGAAAGAGA	0.368		NA											2	4	---	---	---	---	NA	NA	NA	NA
ASTE1	28990	broad.mit.edu	37	3	130743569	130743570	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr3:130743569_130743570insG	uc003env.1	-	3	1023_1024	c.581_582insC	c.(580-582)CCTfs	p.P194fs	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Frame_Shift_Ins_p.P194fs|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	194					DNA repair		nuclease activity				0						AGCATTTGGCAGGGATATAGTT	0.396		NA											34	84	---	---	---	---	NA	NA	NA	NA
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr4:1957868_1957869insC	uc003gdz.3	+	15	3010_3011	c.2834_2835insC	c.(2833-2835)GGCfs	p.G945fs	WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51		NA	T	IGH@	MM								14	118	---	---	---	---	NA	NA	NA	NA
POR	5447	broad.mit.edu	37	7	75614935	75614935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5435-01A-01D-1683-08	TCGA-CV-5435-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ec0a719b-3c3a-4797-9ec5-90d3474da727	fe078b43-0f76-4648-ac30-af1599fd3421	g.chr7:75614935delG	uc003udy.2	+	13	1519	c.1437delG	c.(1435-1437)GTGfs	p.V479fs	POR_uc011kgc.1_Frame_Shift_Del_p.V287fs|POR_uc011kgd.1_Frame_Shift_Del_p.V378fs|POR_uc011kge.1_Frame_Shift_Del_p.V217fs|POR_uc003uea.2_5'UTR	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	476	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CGGTGGTTGTGGAGTACGAGA	0.697		NA											2	4	---	---	---	---	NA	NA	NA	NA
