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
CLCNKB	1188	broad.mit.edu	37	1	16380141	16380141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:16380141C>T	uc001axw.3	+	16	1710	c.1630C>T	c.(1630-1632)CGC>TGC	p.R544C	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R544C|CLCNKB_uc001axy.3_Missense_Mutation_p.R375C	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	544					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTCCCACCGCGTGAGGGT	0.622		NA											3	67					0	0	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398701	47398701	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:47398701G>A	uc001cqp.3	-	10	1292	c.1241C>T	c.(1240-1242)TCC>TTC	p.S414F	CYP4A11_uc001cqq.2_Missense_Mutation_p.S414F	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	414					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	GCCATAAATGGAGAGGAGGAC	0.507		NA											84	357					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66064395	66064395	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:66064395G>A	uc001dci.2	+	8	1104	c.902G>A	c.(901-903)GGG>GAG	p.G301E	LEPR_uc001dcg.2_Missense_Mutation_p.G301E|LEPR_uc001dch.2_Missense_Mutation_p.G301E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G301E|LEPR_uc001dck.2_Missense_Mutation_p.G301E	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	301	Extracellular (Potential).|Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATACTTCCTGGGTCTTCGTAT	0.413		NA											17	48					0	0	0	0
IL12RB2	3595	broad.mit.edu	37	1	67793933	67793933	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:67793933A>C	uc001ddu.2	+	5	1170	c.530A>C	c.(529-531)TAT>TCT	p.Y177S	IL12RB2_uc010oqi.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqj.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqm.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	177	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						AAAGACATTTATTGTGACTAT	0.398		NA											56	70					0	0	0	0
MSH4	4438	broad.mit.edu	37	1	76272747	76272747	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:76272747A>G	uc001dhd.1	+	3	550	c.509A>G	c.(508-510)GAA>GGA	p.E170G		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	170					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						GCCAGAGGTGAAATAGGAATG	0.363		NA						MMR					19	52					0	0	0	0
LPHN2	23266	broad.mit.edu	37	1	82415915	82415915	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82415915T>G	uc001dit.3	+	7	1422	c.1241T>G	c.(1240-1242)TTC>TGC	p.F414C	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F414C|LPHN2_uc001div.2_Missense_Mutation_p.F414C|LPHN2_uc009wcd.2_Missense_Mutation_p.F414C|LPHN2_uc001diw.2_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	414	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTGAGCTGTTCAAAACCATA	0.428		NA											43	135					0	0	0	0
LPHN2	23266	broad.mit.edu	37	1	82416120	82416120	+	Silent	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82416120A>T	uc001dit.3	+	7	1627	c.1446A>T	c.(1444-1446)ACA>ACT	p.T482T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.T482T|LPHN2_uc001div.2_Silent_p.T482T|LPHN2_uc009wcd.2_Silent_p.T482T|LPHN2_uc001diw.2_Silent_p.T53T	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	482	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCAGACACAAAGGGGAA	0.398		NA											11	36					0	0	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957935	152957935	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:152957935G>A	uc009wnu.1	+	2	307	c.229G>A	c.(229-231)GTC>ATC	p.V77I	SPRR1A_uc001faw.2_Missense_Mutation_p.V77I	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	77	6.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTTCAACGGTCACTCCAGC	0.617		NA											39	87					0	0	0	0
CD1A	909	broad.mit.edu	37	1	158224916	158224916	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158224916C>G	uc001frt.2	+	2	634	c.101C>G	c.(100-102)TCC>TGC	p.S34C		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	34	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGATCGCATCCTTTTACAAC	0.478		NA											23	122					0	0	0	0
OR6N1	128372	broad.mit.edu	37	1	158735835	158735835	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158735835A>C	uc010piq.1	-	1	638	c.638T>G	c.(637-639)CTG>CGG	p.L213R		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCAGAGGATCAGCAGGAAGGT	0.498		NA											8	120					0	0	0	0
CASQ1	844	broad.mit.edu	37	1	160165806	160165806	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:160165806G>A	uc010pja.1	+	6	1028	c.771G>A	c.(769-771)GAG>GAA	p.E257E		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	257						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTCGTGGAGGAGCACAGGA	0.552		NA											10	73					0	0	0	0
RGS5	8490	broad.mit.edu	37	1	163122400	163122400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:163122400C>G	uc001gcn.2	-	4	571	c.324G>C	c.(322-324)AAG>AAC	p.K108N	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	108	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTCAGCCATCTTGGCAGGGG	0.448		NA											62	282					0	0	0	0
TBX19	9095	broad.mit.edu	37	1	168260618	168260618	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:168260618T>C	uc001gfl.2	+	2	475	c.424T>C	c.(424-426)TTC>CTC	p.F142L	TBX19_uc001gfj.3_Missense_Mutation_p.F73L	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	142	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TCCCATCTCCTTCAGCAAAGT	0.622		NA											34	175					0	0	0	0
NUAK2	81788	broad.mit.edu	37	1	205272810	205272811	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272810_205272811TC>AT	uc001hce.2	-	7	1781_1782	c.1654_1655GA>AT	c.(1654-1656)GAG>ATG	p.E552M		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	552					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCAAAGGACTCAGAGGACAGG	0.673		NA											7	50					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214170581	214170581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:214170581G>A	uc001hkh.2	+	2	975	c.703G>A	c.(703-705)GAG>AAG	p.E235K	PROX1_uc001hkg.1_Missense_Mutation_p.E235K	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	235					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAGGAGCGCCGACA	0.498		NA											10	48					0	0	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470234	6470234	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:6470234T>C	uc001ijj.1	-	18	2131	c.2056A>G	c.(2056-2058)ATG>GTG	p.M686V	PRKCQ_uc009xim.1_Missense_Mutation_p.M623V|PRKCQ_uc001iji.1_Missense_Mutation_p.M719V|PRKCQ_uc009xin.1_Missense_Mutation_p.M650V|PRKCQ_uc010qax.1_Missense_Mutation_p.M561V	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	686	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TTCTGGTCCATGCTGTTGATC	0.468		NA											122	93					0	0	0	0
ASCC1	51008	broad.mit.edu	37	10	73892814	73892814	+	Splice_Site	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:73892814C>G	uc001jst.1	-	9	1063	c.955_splice	c.e9+1	p.A319_splice	ASCC1_uc001jsr.1_Splice_Site_p.A206_splice|ASCC1_uc001jss.1_Splice_Site_p.A291_splice|ASCC1_uc001jsu.1_Splice_Site_p.A291_splice|ASCC1_uc010qju.1_Splice_Site_p.A312_splice			Q8N9N2	ASCC1_HUMAN	RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0						GGGGGACTTACCATTGGGGTC	0.428		NA											10	81					0	0	0	0
DLG5	9231	broad.mit.edu	37	10	79616567	79616567	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:79616567G>T	uc001jzk.2	-	3	527	c.457C>A	c.(457-459)CTG>ATG	p.L153M	DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	153					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATCAGCCGCAGCTGAATGGAG	0.597		NA											7	58					0.00307968	0.00321747	1	0
SH2D4B	387694	broad.mit.edu	37	10	82330001	82330001	+	Silent	SNP	C	C	T	rs149783849	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:82330001C>T	uc001kck.1	+	2	706	c.276C>T	c.(274-276)TAC>TAT	p.Y92Y	SH2D4B_uc001kcl.1_Silent_p.Y43Y	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	91											0			Colorectal(32;0.229)			ACAAGCCCTACGAAGAGATCT	0.597		NA											36	93					0	0	0	0
IFIT5	24138	broad.mit.edu	37	10	91177539	91177539	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:91177539T>G	uc010qnh.1	+	2	814	c.583T>G	c.(583-585)TCT>GCT	p.S195A	IFIT5_uc010qng.1_Intron	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	195	TPR 4.						binding				0						TAGAGAAGGGTCTGTAAAGAG	0.448		NA											5	74					0	0	0	0
BTAF1	9044	broad.mit.edu	37	10	93741428	93741428	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:93741428C>T	uc001khr.2	+	16	1882	c.1784C>T	c.(1783-1785)TCA>TTA	p.S595L	BTAF1_uc001khs.1_Missense_Mutation_p.S265L|BTAF1_uc001kht.1_Missense_Mutation_p.S33L	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	595	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AGTAAGGCTTCAGTTCAGTAT	0.398		NA											34	183					0	0	0	0
DNTT	1791	broad.mit.edu	37	10	98078208	98078208	+	Silent	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:98078208C>A	uc001kmf.2	+	2	473	c.303C>A	c.(301-303)CTC>CTA	p.L101L	DNTT_uc001kmg.2_Silent_p.L101L	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	101	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACCAGAGCTCCTCGATGTCT	0.488		NA											52	110					5.14e-22	6.01e-22	1	0
SORCS1	114815	broad.mit.edu	37	10	108437080	108437080	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108437080C>T	uc001kym.2	-	13	1831	c.1823G>A	c.(1822-1824)CGA>CAA	p.R608Q	SORCS1_uc001kyl.2_Missense_Mutation_p.R608Q|SORCS1_uc009xxs.2_Missense_Mutation_p.R608Q|SORCS1_uc001kyn.1_Missense_Mutation_p.R608Q|SORCS1_uc001kyo.2_Missense_Mutation_p.R608Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	608	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAAAGATGTCGAATTGGGAG	0.463		NA											22	53					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108489807	108489807	+	Splice_Site	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108489807C>T	uc001kym.2	-	6	1032	c.1024_splice	c.e6+1	p.H342_splice	SORCS1_uc001kyl.2_Splice_Site_p.H342_splice|SORCS1_uc009xxs.2_Splice_Site_p.H342_splice|SORCS1_uc001kyn.1_Splice_Site_p.H342_splice|SORCS1_uc001kyo.2_Splice_Site_p.H342_splice	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATTTACTTACGACCATCCAC	0.383		NA											4	81					0	0	0	0
C10orf137	26098	broad.mit.edu	37	10	127414390	127414390	+	Missense_Mutation	SNP	C	C	G	rs149421957		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127414390C>G	uc001liq.1	+	6	1068	c.775C>G	c.(775-777)CCC>GCC	p.P259A	C10orf137_uc001lin.2_Missense_Mutation_p.P259A|C10orf137_uc001lio.1_Missense_Mutation_p.P259A|C10orf137_uc001lip.1_Translation_Start_Site	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408		NA											5	63					0	0	0	0
UROS	7390	broad.mit.edu	37	10	127503624	127503624	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127503624C>G	uc001liw.3	-	3	356	c.223G>C	c.(223-225)GAG>CAG	p.E75Q	UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E75Q|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	75					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTGTTTTGCTCCAAACATAAC	0.443		NA											6	59					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1272931	1272931	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:1272931A>G	uc009ycr.1	+	52	15913	c.15787A>G	c.(15787-15789)ACT>GCT	p.T5263A	MUC5B_uc001ltb.2_Missense_Mutation_p.T4944A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4941					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTTCTCTACTCCCTGCTT	0.582		NA											7	23					0	0	0	0
FAR1	84188	broad.mit.edu	37	11	13736146	13736146	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:13736146A>G	uc001mld.2	+	9	1201	c.1046A>G	c.(1045-1047)TAT>TGT	p.Y349C		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	349					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						CATCTTTTATATCATTACTGG	0.438		NA											9	29					0	0	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816213	16816213	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:16816213G>C	uc001mmo.2	-	19	2582	c.2567C>G	c.(2566-2568)TCA>TGA	p.S856*	PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.S856*|PLEKHA7_uc001mmm.2_5'Flank|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.S430*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.S564*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	856	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CTCAGAAGTTGAGAGTGAAGG	0.582		NA											7	54					0	0	0	0
OSBP	5007	broad.mit.edu	37	11	59376155	59376155	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:59376155C>G	uc001noc.1	-	3	1104	c.624G>C	c.(622-624)CAG>CAC	p.Q208H		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	208					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAAGGGTATTCTGCAGCTCAG	0.468		NA											7	66					0	0	0	0
DDB1	1642	broad.mit.edu	37	11	61080987	61080987	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:61080987C>T	uc001nrc.3	-	16	2279	c.2053G>A	c.(2053-2055)GAT>AAT	p.D685N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.D685N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	685	Interaction with CDT1.|Interaction with 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						GGATAGCCATCTGAATTGAGG	0.433		NA						NER					17	124					0	0	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793160	65793160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:65793160G>A	uc001ogt.2	-	1	829	c.691C>T	c.(691-693)CAT>TAT	p.H231Y		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	231	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GCTTCATGATGACGGGACCTG	0.572		NA											40	22					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70202282	70202282	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70202282C>T	uc001opo.2	+	19	2702	c.2504C>T	c.(2503-2505)ACG>ATG	p.T835M	PPFIA1_uc001opn.1_Missense_Mutation_p.T835M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	835					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTTCCGAGACGGATAACTCA	0.403		NA											10	914					0	0	0	0
NADSYN1	55191	broad.mit.edu	37	11	71191849	71191849	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71191849T>C	uc001oqn.2	+	11	1048	c.922T>C	c.(922-924)TCG>CCG	p.S308P	NADSYN1_uc001oqo.2_Missense_Mutation_p.S48P|NADSYN1_uc001oqp.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	308					NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTTGCCCTCTCGTGCCACGA	0.592		NA											7	300					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92577879	92577879	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:92577879C>T	uc001pdj.3	+	18	11363	c.11346C>T	c.(11344-11346)AAC>AAT	p.N3782N	FAT3_uc001pdi.3_Silent_p.N222N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3782	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACAGGAACGTGCGTTGCA	0.512		NA								TCGA Ovarian(4;0.039)			4	4					0	0	0	0
PIWIL4	143689	broad.mit.edu	37	11	94349700	94349700	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:94349700T>C	uc001pfa.2	+	16	2196	c.1985T>C	c.(1984-1986)GTT>GCT	p.V662A	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	662	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGACTGATGTTGCAGATTGC	0.343		NA											14	34					0	0	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924371	105924371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:105924371C>T	uc001pja.2	-	4	1685	c.1045G>A	c.(1045-1047)GGT>AGT	p.G349S	KBTBD3_uc001pjb.2_Missense_Mutation_p.G349S|KBTBD3_uc009yxm.2_Missense_Mutation_p.G270S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	345	Kelch 2.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCTTTGCAACCACCTGTCAAG	0.423		NA											11	20					0	0	0	0
SC5DL	6309	broad.mit.edu	37	11	121174255	121174255	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:121174255C>G	uc001pxu.2	+	2	319	c.171C>G	c.(169-171)GTC>GTG	p.V57V	SC5DL_uc001pxs.1_Silent_p.V57V|SC5DL_uc001pxt.2_Silent_p.V57V|SC5DL_uc001pxv.2_Silent_p.V57V	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	57					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATTATTTTGTCTTCGATCATG	0.289		NA											12	35					0	0	0	0
ROBO4	54538	broad.mit.edu	37	11	124757312	124757312	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:124757312G>A	uc001qbg.2	-	14	2280	c.2140C>T	c.(2140-2142)CTC>TTC	p.L714F	ROBO4_uc010sas.1_Missense_Mutation_p.L569F|ROBO4_uc001qbh.2_Missense_Mutation_p.L604F|ROBO4_uc001qbi.2_Missense_Mutation_p.L272F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	714					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTGGAGGGAGATGACGAGTA	0.602		NA											17	49					0	0	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822440	43822440	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:43822440G>T	uc010skx.1	-	25	3652	c.3652C>A	c.(3652-3654)CCC>ACC	p.P1218T	ADAMTS20_uc001rno.1_Missense_Mutation_p.P336T|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P372T	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1218	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATACTTACGGGTGACCAATCC	0.328		NA											4	12					0.00909568	0.00937678	1	0
AAAS	8086	broad.mit.edu	37	12	53708119	53708119	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:53708119G>A	uc001scr.3	-	7	815	c.652C>T	c.(652-654)CTT>TTT	p.L218F	AAAS_uc001scs.3_Missense_Mutation_p.L185F	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	218	WD 2.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						GTCCAGATAAGAATGCAGCTC	0.587		NA											21	119					0	0	0	0
TRHDE	29953	broad.mit.edu	37	12	73012775	73012775	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73012775T>C	uc001sxa.2	+	13	2321	c.2291T>C	c.(2290-2292)CTA>CCA	p.L764P		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CTTTATCCTCTAGATAAATTA	0.353		NA											9	45					0	0	0	0
TRHDE	29953	broad.mit.edu	37	12	73015465	73015465	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73015465G>T	uc001sxa.2	+	15	2504	c.2474G>T	c.(2473-2475)GGC>GTC	p.G825V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	825	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TGCAGTTTTGGCAACAAGCAC	0.373		NA											6	24					0.00198382	0.00207723	1	0
TMCC3	57458	broad.mit.edu	37	12	94965347	94965347	+	Missense_Mutation	SNP	G	G	A	rs149413079	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:94965347G>A	uc001tdj.2	-	4	1416	c.1298C>T	c.(1297-1299)GCG>GTG	p.A433V	TMCC3_uc001tdi.2_Missense_Mutation_p.A402V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	433	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2						GACGAACTTCGCGATGGTGGA	0.488		NA											21	77					0	0	0	0
C12orf42	374470	broad.mit.edu	37	12	103695998	103695998	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:103695998G>T	uc001tjt.2	-	6	1059	c.971C>A	c.(970-972)TCC>TAC	p.S324Y	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S324Y|C12orf42_uc001tju.2_Missense_Mutation_p.S229Y	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	324										ovary(1)|central_nervous_system(1)	2						TAACCTCTTGGAGGGGAAATG	0.622		NA											22	54					2.89e-11	3.33e-11	1	0
APPL2	55198	broad.mit.edu	37	12	105591721	105591721	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:105591721G>C	uc001tlf.1	-	11	1092	c.874C>G	c.(874-876)CTG>GTG	p.L292V	APPL2_uc010swt.1_Missense_Mutation_p.L249V|APPL2_uc001tlg.1_Missense_Mutation_p.L46V|APPL2_uc010swu.1_Missense_Mutation_p.L298V|APPL2_uc009zuq.2_Missense_Mutation_p.L249V	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	292	Required for RAB5A binding (By similarity).|PH.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						GTGGTGACCAGCCCTGTTTTG	0.542		NA											5	27					0	0	0	0
PRDM4	11108	broad.mit.edu	37	12	108145684	108145684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108145684C>T	uc001tmp.2	-	5	1071	c.634G>A	c.(634-636)GAG>AAG	p.E212K	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	212					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						ATCGTAAGCTCCTCTGCCATT	0.512		NA											8	89					0	0	0	0
TMEM119	338773	broad.mit.edu	37	12	108985942	108985942	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108985942G>A	uc001tng.2	-	2	381	c.218C>T	c.(217-219)ACC>ATC	p.T73I	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	73	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCCCCCAGGGTTATGGGCTG	0.677		NA											14	55					0	0	0	0
ANAPC7	51434	broad.mit.edu	37	12	110834183	110834183	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110834183T>C	uc001tqo.2	-	2	279	c.278A>G	c.(277-279)TAT>TGT	p.Y93C	ANAPC7_uc001tqp.3_Missense_Mutation_p.Y93C	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	93	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						AGCATTCCGATATTCCTTATC	0.383		NA											15	22					0	0	0	0
VPS29	51699	broad.mit.edu	37	12	110929916	110929916	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110929916G>A	uc001tqy.2	-	4	503	c.443C>T	c.(442-444)CCA>CTA	p.P148L	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.P152L|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	148					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						CACAAATGATGGAATAATGTT	0.328		NA											5	29					0	0	0	0
KSR2	283455	broad.mit.edu	37	12	117909103	117909103	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:117909103C>T	uc001two.2	-	18	2573	c.2518G>A	c.(2518-2520)GCC>ACC	p.A840T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	869	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCTGGCGTGGAGTTCA	0.502		NA											17	32					0	0	0	0
C12orf43	64897	broad.mit.edu	37	12	121442193	121442193	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:121442193C>T	uc001tzh.1	-	6	575	c.552G>A	c.(550-552)GAG>GAA	p.E184E	C12orf43_uc009zxa.1_Silent_p.E215E|C12orf43_uc010szo.1_Silent_p.E143E|C12orf43_uc010szp.1_Silent_p.E174E|C12orf43_uc001tzi.1_Silent_p.E185E	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	184											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCCTCCTTCTCCACTGTTC	0.602		NA											39	138					0	0	0	0
UBC	7316	broad.mit.edu	37	12	125397265	125397265	+	Silent	SNP	T	T	C	rs140629410		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397265T>C	uc001ugs.3	-	2	1501	c.1053A>G	c.(1051-1053)GGA>GGG	p.G351G	UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.G351G|UBC_uc001ugt.2_Silent_p.G351G|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.G199G	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	351	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCAGCTGTTTTCCGGCAAAGA	0.527		NA											31	180					0	0	0	0
UBC	7316	broad.mit.edu	37	12	125397268	125397268	+	Silent	SNP	G	G	A	rs145681180	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397268G>A	uc001ugs.3	-	2	1498	c.1050C>T	c.(1048-1050)GCC>GCT	p.A350A	UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.A350A|UBC_uc001ugt.2_Silent_p.A350A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.A198A	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGTTTTCCGGCAAAGATCA	0.522		NA											31	173					0	0	0	0
FAM155A	728215	broad.mit.edu	37	13	108518304	108518304	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr13:108518304G>A	uc001vql.2	-	1	1157	c.641C>T	c.(640-642)CCG>CTG	p.P214L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	214						integral to membrane	binding			skin(1)	1						GTTCCAGAGCGGAGTGGGATG	0.577		NA											16	106					0	0	0	0
RHOJ	57381	broad.mit.edu	37	14	63747788	63747788	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747788G>A	uc001xgb.1	+	3	780	c.337G>A	c.(337-339)GAG>AAG	p.E113K		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	113					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)		CAATGTCCAGGAGGAATGGGT	0.557		NA											25	67					0	0	0	0
RHOJ	57381	broad.mit.edu	37	14	63747813	63747813	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747813A>G	uc001xgb.1	+	3	805	c.362A>G	c.(361-363)GAC>GGC	p.D121G		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	121					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)		GAGCTCAAGGACTGCATGCCT	0.537		NA											24	55					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64532170	64532170	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:64532170A>G	uc001xgm.2	+	51	10463	c.10233A>G	c.(10231-10233)ATA>ATG	p.I3411M	SYNE2_uc001xgl.2_Missense_Mutation_p.I3411M|SYNE2_uc010apw.1_Missense_Mutation_p.I117M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3411	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAATCTTATATCAACCAAAG	0.353		NA											24	22					0	0	0	0
ACOT4	122970	broad.mit.edu	37	14	74061758	74061758	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:74061758A>G	uc001xoo.2	+	3	920	c.666A>G	c.(664-666)AAA>AAG	p.K222K		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	222					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCCAGGTAAAAGGCCCAGGCA	0.328		NA											3	181					0	0	0	0
FAM82A2	55177	broad.mit.edu	37	15	41029852	41029852	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:41029852C>T	uc001zmo.1	-	10	1342	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	FAM82A2_uc001zmp.1_Missense_Mutation_p.E400K|FAM82A2_uc001zmq.1_Missense_Mutation_p.E400K	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	400					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						AGGGCATCTTCCACAGTGGCA	0.478		NA											5	76					0	0	0	0
CASC4	113201	broad.mit.edu	37	15	44671915	44671915	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:44671915C>G	uc001zto.1	+	7	1129	c.830C>G	c.(829-831)TCT>TGT	p.S277C	CASC4_uc001ztp.2_Missense_Mutation_p.S277C|CASC4_uc001ztq.2_Missense_Mutation_p.S277C	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	277	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ATTTCAGTTTCTCAACATGAA	0.333		NA											67	76					0	0	0	0
PLDN	26258	broad.mit.edu	37	15	45884445	45884445	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:45884445G>C	uc001zvq.2	+	2	420	c.195G>C	c.(193-195)CAG>CAC	p.Q65H	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	65	Potential.				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		CAGATCTGCAGAGATCAAAAC	0.398		NA											8	29					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:54305645G>A	uc002ack.2	+	1	545	c.545G>A	c.(544-546)CGA>CAA	p.R182Q		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTTTACGAAAACTGAGA	0.458		NA											48	82					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62165518	62165518	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:62165518C>G	uc002agz.2	-	78	10579	c.10505G>C	c.(10504-10506)AGA>ACA	p.R3502T	VPS13C_uc002aha.2_Missense_Mutation_p.R3459T|VPS13C_uc002ahb.1_Missense_Mutation_p.R3502T|VPS13C_uc002ahc.1_Missense_Mutation_p.R3459T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3502					protein localization					ovary(2)	2						CTCTTCTCTTCTTTTTTGCTG	0.423		NA											46	154					0	0	0	0
DENND4A	10260	broad.mit.edu	37	15	65968902	65968902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:65968902T>C	uc002aph.2	-	23	4496	c.4118A>G	c.(4117-4119)GAT>GGT	p.D1373G	DENND4A_uc002api.2_Missense_Mutation_p.D1416G	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GACATCTTCATCTGTTAAAGA	0.423		NA											7	31					0	0	0	0
STARD5	80765	broad.mit.edu	37	15	81614833	81614833	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:81614833G>A	uc002bgm.2	-	3	282	c.198C>T	c.(196-198)GAC>GAT	p.D66D	STARD5_uc002bgn.2_5'UTR	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	66	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1						GCTTCACACAGTCCCACACCT	0.473		NA											19	75					0	0	0	0
NAT15	79903	broad.mit.edu	37	16	3533528	3533528	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:3533528G>C	uc002cvh.3	+	6	749	c.503G>C	c.(502-504)CGA>CCA	p.R168P	NAT15_uc010uxb.1_Missense_Mutation_p.R175P|NAT15_uc010btk.1_Missense_Mutation_p.R103P|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.R168P|NAT15_uc010uxc.1_Missense_Mutation_p.R168P|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.R168P	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	168	N-acetyltransferase.						N-acetyltransferase activity				0						TACTCCATTCGAGGGGTCCTC	0.478		NA											5	70					0	0	0	0
ACSM5	54988	broad.mit.edu	37	16	20442541	20442541	+	Splice_Site	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:20442541G>A	uc002dhe.2	+	10	1354	c.1207_splice	c.e10-1	p.I403_splice		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TTCCTTACCAGATTGTGGATG	0.552		NA											23	102					0	0	0	0
PALB2	79728	broad.mit.edu	37	16	23641719	23641719	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:23641719C>T	uc002dlx.1	-	5	1956	c.1756G>A	c.(1756-1758)GAT>AAT	p.D586N		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	586					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GTGAAAGCATCATCATCCAAG	0.368		NA	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				7	24					0	0	0	0
ZNF423	23090	broad.mit.edu	37	16	49764716	49764716	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:49764716G>C	uc002efs.2	-	4	541	c.243C>G	c.(241-243)GAC>GAG	p.D81E		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	81	C2H2-type 1; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGTCCGTCAGGTCTGCCAGAG	0.517		NA											5	105					0	0	0	0
ALOX12	239	broad.mit.edu	37	17	6900305	6900305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:6900305G>A	uc002gdx.3	+	2	349	c.296G>A	c.(295-297)TGG>TAG	p.W99*		NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	99	PLAT.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						TGCTACCGCTGGGTGCAGGGC	0.706		NA											5	3					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-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)			32	25					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10302117	10302117	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10302117C>T	uc002gmm.2	-	29	4044	c.3949G>A	c.(3949-3951)GAG>AAG	p.E1317K	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1317	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TGTTTCAGCTCTTCAATCTGC	0.388		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				6	55					0	0	0	0
C17orf48	56985	broad.mit.edu	37	17	10608466	10608466	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10608466A>G	uc002gmt.2	+	2	298	c.223A>G	c.(223-225)ATC>GTC	p.I75V	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.I75V	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	75							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						GCTTGGAGATATCATCGATGG	0.418		NA											20	95					0	0	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612243	16612243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:16612243T>C	uc002gqk.1	+	5	948	c.872T>C	c.(871-873)TTA>TCA	p.L291S	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	291											0						AAAAACCAATTAAAACTCGTC	0.363		NA											39	60					0	0	0	0
SUPT6H	6830	broad.mit.edu	37	17	27017211	27017211	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:27017211A>G	uc002hby.2	+	26	3544	c.3454A>G	c.(3454-3456)ATG>GTG	p.M1152V	SUPT6H_uc010crt.2_Missense_Mutation_p.M1152V|SUPT6H_uc002hbz.1_Missense_Mutation_p.M84V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1152					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GATCTTCAATATGTTAACCAA	0.458		NA											26	57					0	0	0	0
ACACA	31	broad.mit.edu	37	17	35564685	35564685	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:35564685T>C	uc002hnm.2	-	31	3817	c.3626A>G	c.(3625-3627)TAT>TGT	p.Y1209C	ACACA_uc002hnk.2_Missense_Mutation_p.Y1131C|ACACA_uc002hnl.2_Missense_Mutation_p.Y1151C|ACACA_uc002hnn.2_Missense_Mutation_p.Y1209C|ACACA_uc002hno.2_Missense_Mutation_p.Y1246C|ACACA_uc010cuy.2_5'Flank	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1209					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTCATGCCATAGTGGTTGAG	0.473		NA											21	84					0	0	0	0
KRT25	147183	broad.mit.edu	37	17	38906826	38906826	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:38906826C>G	uc002hve.2	-	6	1042	c.981G>C	c.(979-981)TTG>TTC	p.L327F		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	327	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CGGTCTCTGTCAAGGAGCACT	0.522		NA											18	216					0	0	0	0
JUP	3728	broad.mit.edu	37	17	39912040	39912040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:39912040C>T	uc002hxq.2	-	14	2471	c.2194G>A	c.(2194-2196)GGC>AGC	p.G732S	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.G732S|JUP_uc002hxs.2_Missense_Mutation_p.G732S	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	732					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGAGGCCGTCGCTGTAG	0.632		NA											12	51					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41244991	41244991	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:41244991C>T	uc002icq.2	-	10	2789	c.2557G>A	c.(2557-2559)GAT>AAT	p.D853N	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D782N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.D806N|BRCA1_uc002ict.2_Missense_Mutation_p.D853N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.D853N|BRCA1_uc002ide.1_Missense_Mutation_p.D684N|BRCA1_uc010cyy.1_Missense_Mutation_p.D853N|BRCA1_uc010whs.1_Missense_Mutation_p.D853N|BRCA1_uc010cyz.2_Missense_Mutation_p.D806N|BRCA1_uc010cza.2_Missense_Mutation_p.D827N|BRCA1_uc010wht.1_Missense_Mutation_p.D557N	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	853					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACTGAGCATCAAGTTCACTT	0.393		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			50	133					0	0	0	0
LUC7L3	51747	broad.mit.edu	37	17	48821155	48821155	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:48821155T>C	uc002isr.2	+	6	632	c.515T>C	c.(514-516)CTA>CCA	p.L172P	LUC7L3_uc002isp.1_Missense_Mutation_p.L96P|LUC7L3_uc010wmw.1_Missense_Mutation_p.L96P|LUC7L3_uc002isq.2_Missense_Mutation_p.L172P|LUC7L3_uc002iss.2_Missense_Mutation_p.L172P	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	172	Potential.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						AGAGAACTGCTAAGGTCCACA	0.363		NA											9	48					0	0	0	0
SMURF2	64750	broad.mit.edu	37	17	62579622	62579622	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:62579622G>C	uc002jep.1	-	7	914	c.526C>G	c.(526-528)CTA>GTA	p.L176V	SMURF2_uc002jeq.1_Translation_Start_Site|SMURF2_uc002jer.1_Translation_Start_Site	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	176	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATATGGTTTAGATACTGGATT	0.413		NA											4	85					0	0	0	0
CD300E	342510	broad.mit.edu	37	17	72619723	72619723	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:72619723G>C	uc002jlb.1	-	1	79	c.38C>G	c.(37-39)TCA>TGA	p.S13*		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	CD300e molecule precursor	13						integral to membrane|plasma membrane	receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCACTCACCTGAGAGGCAGAG	0.547		NA											4	152					0	0	0	0
FHOD3	80206	broad.mit.edu	37	18	33935606	33935606	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:33935606C>T	uc002kzt.1	+	2	367	c.270C>T	c.(268-270)GCC>GCT	p.A90A	FHOD3_uc002kzr.1_Silent_p.A90A|FHOD3_uc002kzs.1_Silent_p.A90A	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	90	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGATGACGCCGGGTAAGAGC	0.542		NA											15	13					0	0	0	0
SMAD2	4087	broad.mit.edu	37	18	45371798	45371798	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:45371798A>G	uc002lcy.2	-	10	1441	c.1193T>C	c.(1192-1194)GTT>GCT	p.V398A	SMAD2_uc002lcz.2_Missense_Mutation_p.V398A|SMAD2_uc010xdc.1_Missense_Mutation_p.V368A|SMAD2_uc010xdd.1_Missense_Mutation_p.V368A	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	398	MH2.			V->R: Increased binding to PPM1A.	anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						ACCCTGATTAACAGACTGAGC	0.383		NA											49	42					0	0	0	0
AP3D1	8943	broad.mit.edu	37	19	2121203	2121203	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2121203G>A	uc002luz.2	-	13	1432	c.1209C>T	c.(1207-1209)ATC>ATT	p.I403I	AP3D1_uc002luy.2_Silent_p.I312I|AP3D1_uc002lva.2_Silent_p.I403I	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	403	HEAT 8.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGCTGCAGATGTCAATGA	0.587		NA											16	63					0	0	0	0
DOT1L	84444	broad.mit.edu	37	19	2210666	2210666	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2210666A>T	uc002lvb.3	+	14	1199	c.1163A>T	c.(1162-1164)AAG>ATG	p.K388M	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	388						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGAAGAAGCCGTCTCCC	0.607		NA											22	131					0	0	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717766	2717766	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2717766G>A	uc002lwf.3	-	2	197	c.39C>T	c.(37-39)TTC>TTT	p.F13F		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	13					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCGCCCCGAACACCACCA	0.547		NA											9	30					0	0	0	0
SLC44A2	57153	broad.mit.edu	37	19	10745462	10745462	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:10745462G>A	uc002mpf.2	+	11	993	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	SLC44A2_uc002mpe.3_Missense_Mutation_p.R283Q|SLC44A2_uc002mpg.1_Missense_Mutation_p.R5Q|SLC44A2_uc002mph.2_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	285	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTACTCCCGACTGCGTGGT	0.557		NA											4	97					0	0	0	0
EMR3	84658	broad.mit.edu	37	19	14736338	14736338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:14736338G>A	uc002mzi.3	-	15	2034	c.1886C>T	c.(1885-1887)TCC>TTC	p.S629F	EMR3_uc010dzp.2_Missense_Mutation_p.S577F|EMR3_uc010xnv.1_Missense_Mutation_p.S503F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	629	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						CATCTTGCTGGAAAGTGTGTA	0.393		NA											17	95					0	0	0	0
ZNF429	353088	broad.mit.edu	37	19	21720747	21720747	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720747C>A	uc002nqd.1	+	4	2029	c.1892C>A	c.(1891-1893)ACC>AAC	p.T631N	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	631	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAGCTTTTACCCGGTCTTCA	0.254		NA											4	40					0.00198382	0.00207723	1	0
ZNF429	353088	broad.mit.edu	37	19	21720754	21720754	+	Silent	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720754T>C	uc002nqd.1	+	4	2036	c.1899T>C	c.(1897-1899)TCT>TCC	p.S633S	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	633	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTACCCGGTCTTCAAGACTTA	0.234		NA											4	36					0	0	0	0
C19orf40	91442	broad.mit.edu	37	19	33464412	33464412	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:33464412G>A	uc002nud.3	+	3	305	c.187G>A	c.(187-189)GAA>AAA	p.E63K	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	63					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TTATGTCACCGAAGCTGATTT	0.328		NA						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					19	106					0	0	0	0
ATP4A	495	broad.mit.edu	37	19	36051332	36051332	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:36051332G>A	uc002oal.1	-	6	749	c.720C>T	c.(718-720)CCC>CCT	p.P240P	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	240	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCGTGCACTCGGGTGAGCGGG	0.657		NA											15	81					0	0	0	0
NUP62	23636	broad.mit.edu	37	19	50412137	50412137	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:50412137C>T	uc002pqx.2	-	2	1032	c.928G>A	c.(928-930)GTG>ATG	p.V310M	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.V310M|NUP62_uc002pqz.2_Missense_Mutation_p.V310M|NUP62_uc002pra.2_Missense_Mutation_p.V310M|NUP62_uc002prb.2_Missense_Mutation_p.V310M|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAGCGGTCACGGCAGCTGCT	0.517		NA											9	49					0	0	0	0
ZNF577	84765	broad.mit.edu	37	19	52376780	52376780	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:52376780C>G	uc010yde.1	-	7	854	c.463G>C	c.(463-465)GGG>CGG	p.G155R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.G96R|ZNF577_uc002pxv.2_Missense_Mutation_p.G148R|ZNF577_uc002pxw.2_Missense_Mutation_p.G89R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGGTTTCCCTCCTGCACAA	0.448		NA											7	120					0	0	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677830	54677830	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:54677830G>T	uc002qdq.2	-	9	1593	c.1327C>A	c.(1327-1329)CTG>ATG	p.L443M	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.L127M|MBOAT7_uc010yem.1_Missense_Mutation_p.L425M|MBOAT7_uc002qdr.2_Missense_Mutation_p.L443M|MBOAT7_uc002qds.2_Missense_Mutation_p.L370M|MBOAT7_uc010yen.1_Missense_Mutation_p.L370M	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	443	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCCCCAGCCCCAGGGCT	0.652		NA											8	33					5.18e-06	5.76e-06	1	0
PEG3	5178	broad.mit.edu	37	19	57327434	57327434	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:57327434A>C	uc002qnu.2	-	7	2727	c.2376T>G	c.(2374-2376)AGT>AGG	p.S792R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S763R|PEG3_uc002qnv.2_Missense_Mutation_p.S792R|PEG3_uc002qnw.2_Missense_Mutation_p.S668R|PEG3_uc002qnx.2_Missense_Mutation_p.S666R|PEG3_uc010etr.2_Missense_Mutation_p.S792R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	792					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCCTGCTACACTGTGACTTT	0.453		NA											76	88					0	0	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028615	59028615	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:59028615C>T	uc002qtd.2	-	2	718	c.426G>A	c.(424-426)CCG>CCA	p.P142P	ZBTB45_uc002qte.2_Silent_p.P142P|ZBTB45_uc002qtf.2_Silent_p.P142P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	142	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCGAGTGGCGGGGGCACAG	0.706		NA									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194165	24194165	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:24194165G>C	uc010exy.2	+	4	529	c.61G>C	c.(61-63)GAT>CAT	p.D21H	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D21H|UBXN2A_uc010ykj.1_Missense_Mutation_p.D21H	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	21											0						AACAGGATCTGATAATCAACC	0.313		NA											8	102					0	0	0	0
FOSL2	2355	broad.mit.edu	37	2	28626989	28626989	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:28626989A>G	uc002rma.2	+	2	927	c.118A>G	c.(118-120)ATG>GTG	p.M40V	FOSL2_uc010ymi.1_Missense_Mutation_p.M1V	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	40					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CCGGGTAGATATGCCTGGCTC	0.463		NA											28	83					0	0	0	0
RTN4	57142	broad.mit.edu	37	2	55252582	55252582	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:55252582A>C	uc002rye.2	-	3	2951	c.2653T>G	c.(2653-2655)TTA>GTA	p.L885V	RTN4_uc002ryd.2_Missense_Mutation_p.L679V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	885	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TCCCTGGCTAATTTAGAAAAT	0.388		NA											34	19					0	0	0	0
MCM6	4175	broad.mit.edu	37	2	136614422	136614422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:136614422G>T	uc002tuw.2	-	11	1578	c.1502C>A	c.(1501-1503)GCA>GAA	p.A501E		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	501	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTTGCTGCTGCCAAAATGGA	0.338		NA											16	31					0.000566183	0.000607833	1	0
EPC2	26122	broad.mit.edu	37	2	149501231	149501231	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149501231T>G	uc010zbt.1	+	3	381	c.354T>G	c.(352-354)GAT>GAG	p.D118E		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	118					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATGATATGGATTCAGAAGATG	0.294		NA											9	14					0	0	0	0
KIF5C	3800	broad.mit.edu	37	2	149868127	149868127	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149868127G>A	uc010zbu.1	+	25	3179	c.2811G>A	c.(2809-2811)ACG>ACA	p.T937T	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.T219T	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	937	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCTCCAACGGCCGTCCATG	0.498		NA											18	45					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166848067	166848067	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:166848067G>A	uc010zcz.1	-	26	5703	c.5685C>T	c.(5683-5685)ATC>ATT	p.I1895I		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1906						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTAGTAGTGATTGGCTGAT	0.443		NA											11	118					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168101809	168101809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168101809G>T	uc002udx.2	+	8	3925	c.3907G>T	c.(3907-3909)GAA>TAA	p.E1303*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E1128*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E1081*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1128					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTACTGAAGAAGTAATACA	0.383		NA											17	65					1.57e-10	1.81e-10	1	0
XIRP2	129446	broad.mit.edu	37	2	168105100	168105100	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168105100G>A	uc002udx.2	+	8	7216	c.7198G>A	c.(7198-7200)GAA>AAA	p.E2400K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2225K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2178K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2225					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTCCCAAAAAGAAGCCTCGAA	0.473		NA											4	102					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170065990	170065990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:170065990G>A	uc002ues.2	-	38	6655	c.6442C>T	c.(6442-6444)CGG>TGG	p.R2148W		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2148	LDL-receptor class B 20.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAATACCCCGGACTCCATTT	0.398		NA											19	124					0	0	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794907	176794907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:176794907G>A	uc002ukc.1	-	13	1268	c.1075C>T	c.(1075-1077)CTT>TTT	p.L359F	KIAA1715_uc010zer.1_Missense_Mutation_p.L390F|KIAA1715_uc010fqw.1_Missense_Mutation_p.L425F|KIAA1715_uc010zes.1_Missense_Mutation_p.L361F|KIAA1715_uc002ukd.1_Missense_Mutation_p.L236F|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	359	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTATCATCAAGAACATCGTGT	0.343		NA											4	167					0	0	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213991	179213991	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179213991C>T	uc002ulx.2	+	12	1406	c.1028C>T	c.(1027-1029)TCC>TTC	p.S343F	OSBPL6_uc002ulw.2_Missense_Mutation_p.S312F|OSBPL6_uc002uly.2_Missense_Mutation_p.S368F|OSBPL6_uc010zfe.1_Missense_Mutation_p.S312F|OSBPL6_uc002ulz.2_Missense_Mutation_p.S343F|OSBPL6_uc002uma.2_Missense_Mutation_p.S347F	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	343					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGCTTGCATTCCTCCAACCCC	0.438		NA											17	271					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179403855	179403855	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179403855C>T	uc010zfg.1	-	302	91327	c.91103G>A	c.(91102-91104)CGC>CAC	p.R30368H	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24063H|TTN_uc010zfi.1_Missense_Mutation_p.R23996H|TTN_uc010zfj.1_Missense_Mutation_p.R23871H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31295							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)			TGTCTCTTTGCGTTCGATGTA	0.498		NA											16	114					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179544334	179544334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179544334G>A	uc010zfg.1	-	138	30148	c.29924C>T	c.(29923-29925)CCG>CTG	p.P9975L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6636L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10902							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)			ACCTTTTGCCGGTGGAGCTTC	0.418		NA											8	31					0	0	0	0
NCKAP1	10787	broad.mit.edu	37	2	183850902	183850902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:183850902T>C	uc002upc.2	-	10	1403	c.1001A>G	c.(1000-1002)CAT>CGT	p.H334R	NCKAP1_uc002upb.2_Missense_Mutation_p.H340R	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	334					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TACTCACGCATGTGACACGGC	0.318		NA											6	12					0	0	0	0
ERBB4	2066	broad.mit.edu	37	2	212488717	212488717	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:212488717C>A	uc002veg.1	-	18	2230	c.2132G>T	c.(2131-2133)CGT>CTT	p.R711L	ERBB4_uc002veh.1_Missense_Mutation_p.R711L|ERBB4_uc010zji.1_Missense_Mutation_p.R701L|ERBB4_uc010zjj.1_Missense_Mutation_p.R701L|ERBB4_uc010fut.1_Missense_Mutation_p.R711L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	711	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTCAAAATACGAAGTTGAGC	0.418		NA								TSP Lung(8;0.080)			4	57					0.00909568	0.00937678	1	0
ABCA12	26154	broad.mit.edu	37	2	215854110	215854110	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:215854110G>T	uc002vew.2	-	26	3992	c.3772C>A	c.(3772-3774)CTA>ATA	p.L1258I	ABCA12_uc002vev.2_Missense_Mutation_p.L940I|ABCA12_uc010zjn.1_Missense_Mutation_p.L185I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1258	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCAGCTAGGATTAGACAG	0.423		NA											9	68					1.13e-05	1.25e-05	1	0
TRIP12	9320	broad.mit.edu	37	2	230693917	230693917	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:230693917C>T	uc002vpw.1	-	7	1407	c.1298G>A	c.(1297-1299)AGT>AAT	p.S433N	TRIP12_uc002vpx.1_Missense_Mutation_p.S481N|TRIP12_uc002vpy.1_Missense_Mutation_p.S136N|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S439N	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTAGCTCCACTTCCAATTGT	0.393		NA											7	36					0	0	0	0
PAK7	57144	broad.mit.edu	37	20	9561038	9561038	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:9561038C>G	uc002wnl.2	-	5	1289	c.744G>C	c.(742-744)GAG>GAC	p.E248D	PAK7_uc002wnk.2_Missense_Mutation_p.E248D|PAK7_uc002wnj.2_Missense_Mutation_p.E248D|PAK7_uc010gby.1_Missense_Mutation_p.E248D	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	248	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			ACGCCAGGCTCTCCTTGGAGC	0.537		NA											7	68					0	0	0	0
RBL1	5933	broad.mit.edu	37	20	35717460	35717460	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:35717460C>T	uc002xgi.2	-	2	301	c.222G>A	c.(220-222)ACG>ACA	p.T74T	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.T74T|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	74					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				CCTTTCCAACCGTGGGAATAA	0.383		NA											12	76					0	0	0	0
LBP	3929	broad.mit.edu	37	20	36992694	36992694	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:36992694G>T	uc002xic.1	+	7	753	c.718G>T	c.(718-720)GCC>TCC	p.A240S		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	240					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				TCGGGCAACAGCCCAGATGCT	0.562		NA											6	44					0.00198382	0.00207723	1	0
B4GALT5	9334	broad.mit.edu	37	20	48263615	48263615	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:48263615T>C	uc002xuu.3	-	3	445	c.251A>G	c.(250-252)GAT>GGT	p.D84G		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	84	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGAGGATAATCTAGGGAGGT	0.413		NA											14	49					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62626765	62626765	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:62626765G>T	uc002yho.2	+	6	869	c.701G>T	c.(700-702)GGC>GTC	p.G234V	PRPF6_uc002yhp.2_Missense_Mutation_p.G234V	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	234					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGACACCTGGCACAGGTGAG	0.527		NA											11	51					5.51e-06	6.11e-06	1	0
ZNF295	49854	broad.mit.edu	37	21	43413679	43413679	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:43413679G>A	uc002zab.3	-	3	740	c.526C>T	c.(526-528)CCC>TCC	p.P176S	ZNF295_uc002yzz.3_Missense_Mutation_p.P176S|ZNF295_uc002yzy.3_Missense_Mutation_p.P176S|ZNF295_uc002zaa.3_Missense_Mutation_p.P176S|ZNF295_uc010gov.1_Missense_Mutation_p.P176S|ZNF295_uc002zac.2_Missense_Mutation_p.P176S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	176					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTAGGAGAGGGCCGGGAAGTA	0.418		NA											41	132					0	0	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047691	46047691	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:46047691C>G	uc002zfp.3	+	1	652	c.603C>G	c.(601-603)GTC>GTG	p.V201V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	201	20.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						GTGTGCCTGTCTGCTCTGGGG	0.622		NA											72	296					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:47783764G>C	uc002zji.3	+	14	2631	c.2524G>C	c.(2524-2526)GAG>CAG	p.E842Q	PCNT_uc002zjj.2_Missense_Mutation_p.E724Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662		NA											8	129					0	0	0	0
MICAL3	57553	broad.mit.edu	37	22	18301236	18301236	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:18301236C>T	uc002zng.3	-	26	4544	c.4191G>A	c.(4189-4191)GAG>GAA	p.E1397E	MICAL3_uc011agl.1_Silent_p.E1313E|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1397	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACAACGGCTCGCCTTCCG	0.647		NA											34	94					0	0	0	0
CABIN1	23523	broad.mit.edu	37	22	24463127	24463127	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:24463127C>T	uc002zzi.1	+	16	2354	c.2227C>T	c.(2227-2229)CTG>TTG	p.L743L	CABIN1_uc002zzj.1_Silent_p.L693L|CABIN1_uc002zzl.1_Silent_p.L743L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	743					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GCTGCTTCTTCTGCAGGTGTG	0.532		NA											5	26					0	0	0	0
TPST2	8459	broad.mit.edu	37	22	26928676	26928676	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26928676C>T	uc003acv.2	-	4	1245	c.1077G>A	c.(1075-1077)CTG>CTA	p.L359L	TPST2_uc003acw.2_Silent_p.L359L|TPST2_uc003acx.2_Silent_p.L359L	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	359	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						AATATCCTTTCAGATTGGCTG	0.264		NA											35	233					0	0	0	0
SMC1B	27127	broad.mit.edu	37	22	45745620	45745620	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:45745620T>A	uc003bgc.2	-	23	3536	c.3484A>T	c.(3484-3486)AAC>TAC	p.N1162Y	SMC1B_uc003bgd.2_Intron	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	1162					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGCCTATGTTAGTATTGTCT	0.333		NA											17	26					0	0	0	0
TRANK1	9881	broad.mit.edu	37	3	36873988	36873988	+	Silent	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:36873988G>C	uc003cgj.2	-	12	5606	c.5304C>G	c.(5302-5304)CTC>CTG	p.L1768L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2318	Potential.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTAGAGCTTTGAGTTCCCTGT	0.512		NA											7	75					0	0	0	0
ULK4	54986	broad.mit.edu	37	3	41960008	41960008	+	Missense_Mutation	SNP	C	C	A	rs55840267		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:41960008C>A	uc003ckv.3	-	7	869	c.668G>T	c.(667-669)AGT>ATT	p.S223I	ULK4_uc003ckw.2_Missense_Mutation_p.S223I|ULK4_uc003ckx.1_Missense_Mutation_p.S223I	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	223	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTCTGAAATACTTTCTGAGAA	0.274		NA											3	64					0.00909568	0.00937678	1	0
NKTR	4820	broad.mit.edu	37	3	42680530	42680530	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:42680530G>A	uc003clo.2	+	13	3481	c.3334G>A	c.(3334-3336)GAA>AAA	p.E1112K	NKTR_uc003clm.1_Missense_Mutation_p.E859K|NKTR_uc003clp.2_Missense_Mutation_p.E859K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1002K|NKTR_uc003clr.1_Missense_Mutation_p.E859K|NKTR_uc003cls.2_Missense_Mutation_p.E812K	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1112					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGCACGTTGAAGAAAGTGT	0.408		NA											10	37					0	0	0	0
PDE12	201626	broad.mit.edu	37	3	57542704	57542704	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:57542704G>A	uc003diw.3	+	1	724	c.598G>A	c.(598-600)GAA>AAA	p.E200K	PDE12_uc003div.2_Missense_Mutation_p.E200K	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	200							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTGGTATAAGGAAGCCAAGCC	0.607		NA											24	51					0	0	0	0
FAM55C	91775	broad.mit.edu	37	3	101520115	101520115	+	Missense_Mutation	SNP	G	G	A	rs139375291		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:101520115G>A	uc003dvn.2	+	5	767	c.130G>A	c.(130-132)GAC>AAC	p.D44N	FAM55C_uc010hpn.2_Missense_Mutation_p.D44N	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	44						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CACTTTCATCGACAGCAGTGG	0.458		NA											27	161					0	0	0	0
KALRN	8997	broad.mit.edu	37	3	124207131	124207131	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:124207131C>T	uc003ehg.2	+	29	4486	c.4359C>T	c.(4357-4359)GCC>GCT	p.A1453A	KALRN_uc010hrv.1_Silent_p.A1444A|KALRN_uc003ehf.1_Silent_p.A1453A|KALRN_uc011bjy.1_Silent_p.A1444A|KALRN_uc003ehh.1_Silent_p.A799A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1453	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CAAAGAAAGCCAATGATGCCA	0.532		NA											4	91					0	0	0	0
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:128625055G>A	uc003ela.3	+	12	1443	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	ACAD9_uc010hsw.1_Missense_Mutation_p.R291H|ACAD9_uc011bks.1_Missense_Mutation_p.R291H|ACAD9_uc003elb.2_Missense_Mutation_p.R291H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.R66H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	414						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						CCGTACGAGCGCATACTGCGT	0.632		NA											4	115					0	0	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161426	141161426	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:141161426A>G	uc003etw.2	+	8	1178	c.196A>G	c.(196-198)ACA>GCA	p.T66A	ZBTB38_uc010hun.2_Missense_Mutation_p.T63A|ZBTB38_uc010huo.2_Missense_Mutation_p.T66A|ZBTB38_uc003ety.2_Missense_Mutation_p.T66A|ZBTB38_uc010hup.2_Missense_Mutation_p.T67A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	66	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTGGAGCCATACAATCTGTAT	0.388		NA											16	81					0	0	0	0
DVL3	1857	broad.mit.edu	37	3	183885832	183885832	+	Missense_Mutation	SNP	A	A	G	rs61758454		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:183885832A>G	uc003fms.2	+	13	1617	c.1477A>G	c.(1477-1479)ATC>GTC	p.I493V	DVL3_uc011bqw.1_Missense_Mutation_p.I476V|DVL3_uc003fmt.2_Missense_Mutation_p.I164V|DVL3_uc003fmu.2_Missense_Mutation_p.I325V	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	493	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGCTACTACATCTTCGGTGA	0.592		NA											16	102					0	0	0	0
GC	2638	broad.mit.edu	37	4	72635073	72635073	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:72635073G>A	uc003hge.2	-	2	256	c.103C>T	c.(103-105)CTG>TTG	p.L35L	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.L35L|GC_uc010iif.2_Silent_p.L54L	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	35	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCCTTTCCCAGATGGGAGAAT	0.408		NA											3	27					0	0	0	0
ALB	213	broad.mit.edu	37	4	74274375	74274375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:74274375C>T	uc003hgs.3	+	4	408	c.335C>T	c.(334-336)GCT>GTT	p.A112V	ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.A112V|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.A2V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	112	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGTGAAATGGCTGACTGCTGT	0.443		NA											6	27					0	0	0	0
STBD1	8987	broad.mit.edu	37	4	77231134	77231134	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:77231134C>A	uc003hka.2	+	2	1304	c.1058C>A	c.(1057-1059)GCA>GAA	p.A353E	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.A204E	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	353	CBM20.|Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			GTGGTTCACGCATGGTGGGGG	0.453		NA											23	115					4.88e-14	5.65e-14	1	0
HERC3	8916	broad.mit.edu	37	4	89627912	89627912	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:89627912C>A	uc003hrw.1	+	26	3120	c.2954C>A	c.(2953-2955)ACA>AAA	p.T985K	HERC3_uc011cdn.1_Missense_Mutation_p.T867K|HERC3_uc011cdo.1_Missense_Mutation_p.T429K	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	985	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTGTTCCTGACAGGCAGCGAT	0.552		NA									OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00024832	0.000267201	1	0
CCDC110	256309	broad.mit.edu	37	4	186380147	186380147	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:186380147G>C	uc003ixu.3	-	6	1670	c.1594C>G	c.(1594-1596)CTT>GTT	p.L532V	CCDC110_uc003ixv.3_Missense_Mutation_p.L495V|CCDC110_uc011ckt.1_Missense_Mutation_p.L532V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	532	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAAAGAAAGTTGTATATTT	0.264		NA											13	31					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13901525	13901525	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:13901525C>T	uc003jfd.2	-	14	1930	c.1888G>A	c.(1888-1890)GCC>ACC	p.A630T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	630	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGCTGGCGGGCCCACAAAATC	0.502		NA							Kartagener_syndrome				7	30					0	0	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782551	115782551	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:115782551G>T	uc010jck.2	-	19	3560	c.2851C>A	c.(2851-2853)CAG>AAG	p.Q951K	SEMA6A_uc003krx.3_Missense_Mutation_p.Q968K|SEMA6A_uc011cwe.1_Missense_Mutation_p.Q330K|SEMA6A_uc003krv.3_Missense_Mutation_p.Q378K|SEMA6A_uc003krw.3_Missense_Mutation_p.Q428K|SEMA6A_uc010jcj.2_Missense_Mutation_p.Q495K	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	951	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCAAAGCTCTGGTTTCTGGAG	0.607		NA											10	38					1.77e-08	1.99e-08	1	0
FTMT	94033	broad.mit.edu	37	5	121188162	121188162	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:121188162G>C	uc003kss.2	+	1	513	c.504G>C	c.(502-504)AAG>AAC	p.K168N		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	168	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTTGGAAAAGAACGTGAACC	0.547		NA											17	91					0	0	0	0
HSPA4	3308	broad.mit.edu	37	5	132440096	132440096	+	Missense_Mutation	SNP	G	G	T	rs144576995		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:132440096G>T	uc003kyj.2	+	19	2772	c.2491G>T	c.(2491-2493)GAC>TAC	p.D831Y		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	831					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGGATTCAGACAAGAAGCT	0.423		NA											14	64					6.72e-11	7.74e-11	1	0
CD14	929	broad.mit.edu	37	5	140012362	140012362	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140012362A>T	uc003lgi.1	-	2	561	c.207T>A	c.(205-207)TTT>TTA	p.F69L	CD14_uc003lgj.1_Missense_Mutation_p.F69L	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	69	LRR 1.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTTTAGAAACGGCTCTA	0.632		NA											4	38					0	0	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140181796C>G	uc003lhf.2	+	1	1014	c.1014C>G	c.(1012-1014)CTC>CTG	p.L338L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L338L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	338	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398		NA											3	71					0	0	0	0
RNF14	9604	broad.mit.edu	37	5	141363007	141363007	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:141363007G>T	uc003lly.2	+	6	1165	c.1126G>T	c.(1126-1128)GAT>TAT	p.D376Y	RNF14_uc003llz.2_Missense_Mutation_p.D376Y|RNF14_uc003lma.2_Missense_Mutation_p.D376Y|RNF14_uc003lmb.2_Missense_Mutation_p.D250Y|RNF14_uc003lmc.2_Missense_Mutation_p.D376Y|RNF14_uc011dbg.1_Missense_Mutation_p.D200Y|RNF14_uc011dbh.1_Missense_Mutation_p.D73Y|RNF14_uc003lmd.2_Missense_Mutation_p.D376Y	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	376	Potential.|Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGACTTTTGGATCAAAGGTA	0.378		NA											3	22					0.004672	0.00487014	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149215963	149215963	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:149215963G>A	uc003lrc.2	+	8	1987	c.1945G>A	c.(1945-1947)GGG>AGG	p.G649R	PPARGC1B_uc003lrb.1_Missense_Mutation_p.G649R|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G610R|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G628R|PPARGC1B_uc003lre.1_Missense_Mutation_p.G628R	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	649					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCACCCCAGGGGCTGCCCA	0.602		NA											16	78					0	0	0	0
C5orf54	63920	broad.mit.edu	37	5	159821116	159821116	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:159821116T>C	uc003lye.1	-	2	1846	c.1382A>G	c.(1381-1383)TAT>TGT	p.Y461C	C5orf54_uc003lyf.1_Missense_Mutation_p.Y461C	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	461										pancreas(1)	1						aatggaaaaatatccatggaa	0		NA											8	62					0	0	0	0
CCNG1	900	broad.mit.edu	37	5	162866483	162866483	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:162866483C>T	uc003lzb.2	+	3	355	c.221C>T	c.(220-222)TCT>TTT	p.S74F	CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA	NM_199246	NP_954854	P51959	CCNG1_HUMAN	cyclin G1	74					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				lung(1)|kidney(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GAGACATTTTCTCTAGCTGTG	0.373		NA											24	24					0	0	0	0
FOXI1	2299	broad.mit.edu	37	5	169535531	169535531	+	Silent	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:169535531T>A	uc003mai.3	+	2	1098	c.1053T>A	c.(1051-1053)TCT>TCA	p.S351S	FOXI1_uc003maj.3_Silent_p.S256S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	351					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGGATCTGTGCTCAGCC	0.582		NA							Pendred_syndrome				10	62					0	0	0	0
TRIM10	10107	broad.mit.edu	37	6	30122152	30122152	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:30122152C>T	uc003npo.3	-	7	1116	c.1040G>A	c.(1039-1041)CGT>CAT	p.R347H	TRIM10_uc003npn.2_Missense_Mutation_p.R347H	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	347	B30.2/SPRY.					cytoplasm	zinc ion binding				0						CCGGTCAAAACGTTGGGGGTT	0.602		NA											15	48					0	0	0	0
MTCH1	23787	broad.mit.edu	37	6	36936732	36936732	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:36936732A>G	uc003ond.1	-	12	1117	c.1117T>C	c.(1117-1119)TCC>CCC	p.S373P	MTCH1_uc003onc.1_Missense_Mutation_p.S356P|MTCH1_uc010jwo.1_RNA	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	373					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						AGCAGGCTGGAGCCTCGGAAG	0.562		NA											3	63					0	0	0	0
DST	667	broad.mit.edu	37	6	56417926	56417926	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:56417926C>A	uc003pdf.2	-	55	9335	c.9307G>T	c.(9307-9309)GTA>TTA	p.V3103L	DST_uc003pcz.3_Missense_Mutation_p.V2925L|DST_uc011dxj.1_Missense_Mutation_p.V2954L|DST_uc011dxk.1_Missense_Mutation_p.V2965L|DST_uc003pcy.3_Missense_Mutation_p.V2599L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5011					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAATTCTACCATACCAAAG	0.403		NA											86	204					4.25e-50	4.99e-50	1	0
PRIM2	5558	broad.mit.edu	37	6	57472427	57472427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:57472427G>T	uc003pdx.2	+	13	1303	c.1216G>T	c.(1216-1218)GGA>TGA	p.G406*		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	406					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATCTCTCCTGGAGGGATAAG	0.448		NA											5	47					2.01e-06	2.25e-06	1	0
TBX18	9096	broad.mit.edu	37	6	85472390	85472390	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:85472390C>G	uc003pkl.1	-	2	369	c.369G>C	c.(367-369)GCG>GCC	p.A123A	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697		NA											7	35					0	0	0	0
RRAGD	58528	broad.mit.edu	37	6	90097057	90097057	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:90097057A>T	uc003pnd.3	-	2	684	c.401T>A	c.(400-402)ATC>AAC	p.I134N	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	134					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCCCCGGAAGATCATCTCATA	0.498		NA											16	124					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146351225	146351225	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:146351225A>T	uc010khw.1	+	2	1042	c.572A>T	c.(571-573)GAC>GTC	p.D191V	GRM1_uc010khu.1_Missense_Mutation_p.D191V|GRM1_uc010khv.1_Missense_Mutation_p.D191V|GRM1_uc003qll.2_Missense_Mutation_p.D191V|GRM1_uc011edz.1_Missense_Mutation_p.D191V|GRM1_uc011eea.1_Missense_Mutation_p.D191V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	191	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACAAGCATCGACCTGAGTGAC	0.507		NA											49	65					0	0	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054974	151054974	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151054974A>C	uc003qny.1	+	3	469	c.157A>C	c.(157-159)AAA>CAA	p.K53Q	PLEKHG1_uc011eel.1_Missense_Mutation_p.K93Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.K112Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.K53Q	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	53					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGGCCATAAAACTGGAGCT	0.572		NA											18	55					0	0	0	0
RMND1	55005	broad.mit.edu	37	6	151766876	151766876	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151766876C>A	uc003qoi.2	-	2	251	c.71G>T	c.(70-72)AGA>ATA	p.R24I	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.R24I|RMND1_uc011eer.1_Missense_Mutation_p.R24I	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	24											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGACCGATTCTTCGGCACTG	0.403		NA											14	34					4.37e-10	4.98e-10	1	0
NUDT1	4521	broad.mit.edu	37	7	2290629	2290629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:2290629C>T	uc003slp.1	+	5	635	c.533C>T	c.(532-534)ACG>ATG	p.T178M	NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGGTGGACACGGTCTAGCGG	0.602		NA						Direct_reversal_of_damage|Modulation_of_nucleotide_pools					18	140					0	0	0	0
C7orf10	79783	broad.mit.edu	37	7	40535977	40535977	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:40535977G>A	uc003thn.1	+	12	1126	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K	C7orf10_uc003thm.1_Missense_Mutation_p.E331K|C7orf10_uc003tho.1_Missense_Mutation_p.E313K	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	368							transferase activity			ovary(2)	2						TGTATTTGCAGAACCTCAGGT	0.403		NA											4	27					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55218998	55218998	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:55218998G>A	uc003tqk.2	+	5	817	c.571G>A	c.(571-573)GAT>AAT	p.D191N	EGFR_uc003tqh.2_Missense_Mutation_p.D191N|EGFR_uc003tqi.2_Missense_Mutation_p.D191N|EGFR_uc003tqj.2_Missense_Mutation_p.D191N|EGFR_uc010kzg.1_Missense_Mutation_p.D146N|EGFR_uc011kco.1_Missense_Mutation_p.D138N|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	191	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAAAAGTGTGATCCAAGCTG	0.498		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	724					0	0	0	0
AASS	10157	broad.mit.edu	37	7	121738533	121738533	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:121738533G>A	uc003vka.2	-	14	1722	c.1626C>T	c.(1624-1626)TTC>TTT	p.F542F	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.F542F|AASS_uc011knw.1_Silent_p.F30F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	542	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGCCACCAAGAAGCCCAGCT	0.338		NA											13	48					0	0	0	0
KIAA1549	57670	broad.mit.edu	37	7	138524925	138524926	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524925_138524926GC>TT	uc011kql.1	-	19	5599_5600	c.5550_5551GC>AA	c.(5548-5553)GGGCCA>GGAACA	p.P1851T	KIAA1549_uc011kqi.1_Missense_Mutation_p.P635T|KIAA1549_uc003vuk.3_Missense_Mutation_p.P1801T|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1851T|KIAA1549_uc011kqk.1_Missense_Mutation_p.P635T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1851						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GGCCAGCCTGGCCCCCCATACT	0.545		NA	O	BRAF	pilocytic astrocytoma								3	3					0	0	0	0
CLCN1	1180	broad.mit.edu	37	7	143020479	143020479	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:143020479G>C	uc003wcr.1	+	6	861	c.774G>C	c.(772-774)GAG>GAC	p.E258D	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	258					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					GGGTATATGAGGTAAGGTTGA	0.602		NA											16	63					0	0	0	0
ZNF746	155061	broad.mit.edu	37	7	149191396	149191396	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:149191396C>A	uc003wfw.2	-	2	494	c.223G>T	c.(223-225)GGG>TGG	p.G75W	ZNF746_uc010lpi.2_Missense_Mutation_p.G75W	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	75	Potential.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCAGCCCGTACTCCTGC	0.652		NA											4	166					0.00909568	0.00937678	1	0
EFHA2	286097	broad.mit.edu	37	8	16963031	16963031	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:16963031A>G	uc003wxd.2	+	11	1237	c.1195A>G	c.(1195-1197)ACA>GCA	p.T399A		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	399						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TTTACGATATACAAATGTGGA	0.303		NA											4	19					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39613286	39613286	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:39613286C>G	uc003xnj.2	-	16	1833	c.1758G>C	c.(1756-1758)AAG>AAC	p.K586N	ADAM2_uc003xnk.2_Missense_Mutation_p.K567N|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.K430N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	586	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTATCCACATCTTTTGGCTGT	0.338		NA											25	10					0	0	0	0
POTEA	340441	broad.mit.edu	37	8	43147924	43147924	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:43147924G>T	uc003xpz.1	+	1	340	c.297G>T	c.(295-297)AAG>AAT	p.K99N	POTEA_uc003xqa.1_Missense_Mutation_p.K99N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	99	ANK 1.									ovary(1)	1						ACAAGAAGAAGAGGTAACCGG	0.627		NA											9	23					0.000673444	0.000718033	1	0
ZFHX4	79776	broad.mit.edu	37	8	77763747	77763747	+	Silent	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:77763747G>C	uc003yav.2	+	10	4842	c.4455G>C	c.(4453-4455)ACG>ACC	p.T1485T	ZFHX4_uc003yau.1_Silent_p.T1530T|ZFHX4_uc003yaw.1_Silent_p.T1485T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403		NA								HNSCC(33;0.089)			4	45					0	0	0	0
MMP16	4325	broad.mit.edu	37	8	89128802	89128802	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:89128802T>G	uc003yeb.3	-	6	1299	c.1017A>C	c.(1015-1017)AAA>AAC	p.K339N	MMP16_uc003yec.2_Missense_Mutation_p.K339N	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	339	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AGATGTTGGGTTTGGCTCCGG	0.483		NA											44	56					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113256689C>T	uc003ynu.2	-	65	10495	c.10336G>A	c.(10336-10338)GGT>AGT	p.G3446S	CSMD3_uc003yns.2_Missense_Mutation_p.G2648S|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406S|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3446	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCTGTTCCACCTGCTAAGAAG	0.428		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	59					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113317029	113317029	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113317029A>G	uc003ynu.2	-	52	8346	c.8187T>C	c.(8185-8187)TAT>TAC	p.Y2729Y	CSMD3_uc003yns.2_Silent_p.Y1931Y|CSMD3_uc003ynt.2_Silent_p.Y2689Y|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2729	Extracellular (Potential).|Sushi 16.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTAGTCCATGATAACCAGGGT	0.408		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	47					0	0	0	0
TRMT12	55039	broad.mit.edu	37	8	125463385	125463385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:125463385G>A	uc003yra.3	+	1	338	c.217G>A	c.(217-219)GAG>AAG	p.E73K		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	73					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCACCTGCAGGAGCTGAGGAA	0.592		NA											8	44					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21970971	21970971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr9:21970971G>T	uc003zpk.2	-	2	599	c.387C>A	c.(385-387)TAC>TAA	p.Y129*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	129	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.Y129*(5)|p.R128fs*12(3)|p.Y129C(2)|p.R128fs*9(2)|p.Y129H(1)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCGCGCAGGTACCGTGCGA	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	12					1.56e-14	1.81e-14	1	0
REPS2	9185	broad.mit.edu	37	X	17047658	17047658	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:17047658A>G	uc004cxv.1	+	5	854	c.683A>G	c.(682-684)GAA>GGA	p.E228G	REPS2_uc004cxw.1_Missense_Mutation_p.E227G|REPS2_uc011miw.1_Missense_Mutation_p.E87G	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	228					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					GCACCTTATGAAGCTAGGCAG	0.483		NA											3	57					0	0	0	0
CDKL5	6792	broad.mit.edu	37	X	18646534	18646534	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:18646534C>T	uc004cym.2	+	18	2793	c.2540C>T	c.(2539-2541)TCG>TTG	p.S847L	CDKL5_uc004cyn.2_Missense_Mutation_p.S847L	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	847					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CATCTCTCTTCGGCCTCAAAT	0.483		NA											63	93					0	0	0	0
GABRQ	55879	broad.mit.edu	37	X	151818953	151818953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:151818953C>T	uc004ffp.1	+	7	831	c.811C>T	c.(811-813)CAA>TAA	p.Q271*		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	271	Helical; (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTTGTGCAAGTCTACTG	0.488		NA											209	67					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55955582	55955594	+	Frame_Shift_Del	DEL	TTTTCATCCAGTA	TTTTCATCCAGTA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:55955582_55955594delTTTTCATCCAGTA	uc001jju.1	-	11	1549_1561	c.1154_1166delTACTGGATGAAAA	c.(1153-1167)ATACTGGATGAAAACfs	p.I385fs	PCDH15_uc010qhq.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhr.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhs.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qht.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhu.1_Frame_Shift_Del_p.I385fs|PCDH15_uc001jjv.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.I348fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhy.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.I363fs|PCDH15_uc001jjw.2_Frame_Shift_Del_p.I385fs	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	385_389	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTGATTGTTTTCATCCAGTATTTCAATGTG	0.39		NA								HNSCC(58;0.16)			7	47	---	---	---	---	NA	NA	NA	NA
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:28200305delT	uc001zbh.3	-	17	1951	c.1841delA	c.(1840-1842)AAGfs	p.K614fs	OCA2_uc010ayv.2_Frame_Shift_Del_p.K590fs	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	614	Cytoplasmic (Potential).		K -> N (in OCA2).|K -> E (in OCA2).		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)		GCTGGGTACCTTTTTTTGGAG	0.443		NA							Oculocutaneous_Albinism				8	177	---	---	---	---	NA	NA	NA	NA
MAP1A	4130	broad.mit.edu	37	15	43815715	43815716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:43815715_43815716insA	uc001zrt.2	+	4	2511_2512	c.2044_2045insA	c.(2044-2046)CAAfs	p.Q682fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	682				Q -> P (in Ref. 1; AAB41132/AAB41133).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTTTTTACCAAAAACATATG	0.515		NA											7	26	---	---	---	---	NA	NA	NA	NA
IQGAP1	8826	broad.mit.edu	37	15	90934059	90934060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:90934059_90934060insA	uc002bpl.1	+	2	210_211	c.109_110insA	c.(109-111)CAGfs	p.Q37fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	37					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGGAGACGTCAGAACGTGGCT	0.426		NA											18	65	---	---	---	---	NA	NA	NA	NA
PLCG2	5336	broad.mit.edu	37	16	81957192	81957192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:81957192delG	uc002fgt.2	+	22	2562	c.2410delG	c.(2410-2412)GGGfs	p.G804fs		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	804	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CAAGGAGCCCGGGGGCTGGTA	0.582		NA											14	30	---	---	---	---	NA	NA	NA	NA
HEXIM1	10614	broad.mit.edu	37	17	43226740	43226743	+	Frame_Shift_Del	DEL	GGAG	GGAG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:43226740_43226743delGGAG	uc002iig.2	+	1	2057_2060	c.183_186delGGAG	c.(181-186)CCGGAGfs	p.P61fs		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	61_62					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						GTCCGGGGCCGGAGGGGGAAGGGA	0.676		NA									OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49	---	---	---	---	NA	NA	NA	NA
ZNF320	162967	broad.mit.edu	37	19	53384531	53384539	+	In_Frame_Del	DEL	GCGAAGGTC	GCGAAGGTC	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53384531_53384539delGCGAAGGTC	uc002qag.2	-	4	1031_1039	c.840_848delGACCTTCGC	c.(838-849)AAGACCTTCGCT>AAT	p.280_283KTFA>N	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_In_Frame_Del_p.226_229KTFA>N|ZNF320_uc002qai.2_In_Frame_Del_p.280_283KTFA>N	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	280_283	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TGAATTTCGAGCGAAGGTCTTGCCACACT	0.416		NA											17	89	---	---	---	---	NA	NA	NA	NA
SCRN3	79634	broad.mit.edu	37	2	175292478	175292479	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:175292478_175292479delTG	uc002uiq.2	+	8	1218_1219	c.1130_1131delTG	c.(1129-1131)CTGfs	p.L377fs	SCRN3_uc010zen.1_Frame_Shift_Del_p.L370fs|SCRN3_uc010zeo.1_Frame_Shift_Del_p.L175fs|SCRN3_uc002uis.2_Frame_Shift_Del_p.L119fs	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	377					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATGAGGAAACTGGAGAAAGAAC	0.297		NA											11	111	---	---	---	---	NA	NA	NA	NA
SRRD	402055	broad.mit.edu	37	22	26886165	26886168	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26886165_26886168delGTAA	uc010gve.2	+	5	771	c.764_splice	c.e5+1	p.R255_splice	SRRD_uc003acp.3_Splice_Site_p.R248_splice|uc003acu.1_5'Flank	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process						0						TTGAGGAGAGGTAAGTCTGAGAAT	0.461		NA											7	37	---	---	---	---	NA	NA	NA	NA
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:1388441_1388442insCG	uc003gdf.2	+	1	3102_3103	c.142_143insCG	c.(142-144)ATGfs	p.M48fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48	1				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644		NA											7	634	---	---	---	---	NA	NA	NA	NA
CC2D2A	57545	broad.mit.edu	37	4	15589466	15589468	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:15589466_15589468delGAA	uc010idv.2	+	33	4338_4340	c.4093_4095delGAA	c.(4093-4095)GAAdel	p.E1367del	CC2D2A_uc003gnx.2_In_Frame_Del_p.E1259del|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1367					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						GGCAGGGGATGAAGAAGAACATG	0.399		NA											14	49	---	---	---	---	NA	NA	NA	NA
INTS12	57117	broad.mit.edu	37	4	106604428	106604428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:106604428delG	uc003hxw.2	-	8	1109	c.851delC	c.(850-852)TCGfs	p.S284fs	INTS12_uc010ilr.2_Frame_Shift_Del_p.S284fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	284	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTTACTGACGAGGAAACGCT	0.378		NA											8	30	---	---	---	---	NA	NA	NA	NA
STC1	6781	broad.mit.edu	37	8	23702493	23702493	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:23702493delG	uc003xdw.1	-	4	818	c.534delC	c.(532-534)ATCfs	p.I178fs		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	178					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCTGTCTCTGATTGTGCTGA	0.502		NA											50	41	---	---	---	---	NA	NA	NA	NA
