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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
UBE4B	10277	broad.mit.edu	37	1	10186932	10186932	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:10186932C>G	uc001aqs.3	+	11	2348	c.1635C>G	c.(1633-1635)CTC>CTG	p.L545L	UBE4B_uc001aqr.3_Silent_p.L416L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	545					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AATACCCCCTCATGGTAAAAC	0.343		NaN											0	0	0	0.013537	0	12	48				
MTOR	2475	broad.mit.edu	37	1	11297958	11297958	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:11297958C>T	uc001asd.2	-	13	2271	c.2150G>A	c.(2149-2151)CGA>CAA	p.R717Q		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	717					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GCTACTGAGTCGGCCCACAGT	0.582		NaN											0	0	0	0.005443	0	25	57				
VPS13D	55187	broad.mit.edu	37	1	12317111	12317111	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:12317111G>A	uc001atv.2	+	9	1049	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	VPS13D_uc001atw.2_Missense_Mutation_p.R303Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	303					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGAAGTTCCGAAGGTGGAAA	0.443		NaN											0	0	0	0.004672	0	3	67				
TMEM50A	23585	broad.mit.edu	37	1	25678163	25678163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:25678163G>A	uc001bke.2	+	4	403	c.253G>A	c.(253-255)GAA>AAA	p.E85K	TMEM50A_uc010oeq.1_Missense_Mutation_p.E85K|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	NM_014313	NP_055128	O95807	TM50A_HUMAN	small membrane protein 1	85						endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TAGTTACAGTGAAGGTTGTCT	0.368		NaN											0	0	0	0.001855	0	13	40				
MAN1C1	57134	broad.mit.edu	37	1	26104650	26104650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26104650G>A	uc001bkm.2	+	9	1642	c.1312G>A	c.(1312-1314)GAG>AAG	p.E438K	MAN1C1_uc009vry.1_Missense_Mutation_p.E258K|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	438	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTACATTGCCGAGTGGCGAGG	0.627		NaN											0	0	0	0.001168	0	4	62				
TRIM63	84676	broad.mit.edu	37	1	26387813	26387813	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26387813C>T	uc001bli.1	-	3	481	c.345G>A	c.(343-345)CAG>CAA	p.Q115Q		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	115	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGCCCTTCTGCAGCGGCC	0.527		NaN											0	0	0	0.009096	0	3	66				
ARID1A	8289	broad.mit.edu	37	1	27056160	27056160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:27056160C>T	uc001bmv.1	+	2	1529	c.1156C>T	c.(1156-1158)CAG>TAG	p.Q386*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q3*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	386					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAATGGATCAGATGGGCAA	0.498		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.008361	0	27	91		Valid		
PUM1	9698	broad.mit.edu	37	1	31437555	31437555	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:31437555G>A	uc001bsi.1	-	14	2402	c.2289C>T	c.(2287-2289)CTC>CTT	p.L763L	PUM1_uc001bsf.1_Silent_p.L429L|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.L763L|PUM1_uc001bsj.1_Silent_p.L737L|PUM1_uc010oga.1_Silent_p.L619L|PUM1_uc001bsk.1_Silent_p.L799L|PUM1_uc010ogb.1_Silent_p.L704L	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	763	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CATGTGAAGAGAGGGAAGGAG	0.493		NaN											0	0	0	0.009535	0	29	176				
RLF	6018	broad.mit.edu	37	1	40701823	40701823	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:40701823A>G	uc001cfc.3	+	8	1480	c.1449A>G	c.(1447-1449)TTA>TTG	p.L483L	RLF_uc001cfd.3_Silent_p.L174L	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	483					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACCAACTTTTAGGACAAGAAG	0.403		NaN											0	0	0	0.009096	0	3	128				
IL12RB2	3595	broad.mit.edu	37	1	67792462	67792462	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:67792462G>A	uc001ddu.2	+	4	1049	c.409G>A	c.(409-411)GAA>AAA	p.E137K	IL12RB2_uc010oqi.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqj.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqm.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	137	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						ACAGAAGGGAGAACAGGGGAC	0.428		NaN											0	0	0	0.008291	0	10	67				
TTLL7	79739	broad.mit.edu	37	1	84403570	84403570	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:84403570G>C	uc001djc.2	-	8	1249	c.853C>G	c.(853-855)CAA>GAA	p.Q285E	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	285	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACATCATGTTGATTTGCTTGA	0.373		NaN											0	0	0	0.00308	0	8	100				
LMO4	8543	broad.mit.edu	37	1	87797721	87797721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:87797721C>T	uc001dmi.2	+	2	803	c.23C>T	c.(22-24)TCG>TTG	p.S8L	LMO4_uc001dmj.2_Missense_Mutation_p.S8L	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	8					neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGCAGCAGCTCGCAGCCGCCC	0.637		NaN											0	0	0	0.00308	0	6	53				
PKN2	5586	broad.mit.edu	37	1	89290038	89290038	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:89290038G>A	uc001dmn.2	+	18	2730	c.2388G>A	c.(2386-2388)GTG>GTA	p.V796V	PKN2_uc010osp.1_Silent_p.V780V|PKN2_uc010osq.1_Silent_p.V639V|PKN2_uc009wcv.2_Silent_p.V748V|PKN2_uc010osr.1_Silent_p.V461V	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	796	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGGCTTTGTGAAAATTGCTG	0.308		NaN											0	0	0	0.004482	0	8	54				
ARHGAP29	9411	broad.mit.edu	37	1	94639451	94639451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:94639451C>T	uc001dqj.3	-	23	4129	c.3760G>A	c.(3760-3762)GAA>AAA	p.E1254K	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1254					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCACCTTCGAGGTCTTCA	0.398		NaN											0	0	0	0.001855	0	13	106				
S1PR1	1901	broad.mit.edu	37	1	101705115	101705115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:101705115C>G	uc001dud.2	+	2	1089	c.575C>G	c.(574-576)TCC>TGC	p.S192C	S1PR1_uc009weg.2_Missense_Mutation_p.S192C	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	192	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TCCAGCTGCTCCACCGTGCTG	0.567		NaN									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003271	0	36	76				
KCNC4	3749	broad.mit.edu	37	1	110765682	110765682	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:110765682G>C	uc001dzh.2	+	2	832	c.775G>C	c.(775-777)GAG>CAG	p.E259Q	KCNC4_uc001dzf.2_Missense_Mutation_p.E259Q|KCNC4_uc009wfr.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzg.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	259					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACGTGACAGAGATCCTCCG	0.552		NaN											0	0	0	0.010504	0	21	129				
PDE4DIP	9659	broad.mit.edu	37	1	144864265	144864265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:144864265G>C	uc001elw.3	-	36	6121	c.5830C>G	c.(5830-5832)CAA>GAA	p.Q1944E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1838E|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q951E|PDE4DIP_uc001ema.2_Missense_Mutation_p.Q131E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1944	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCAGCTCTTGAAGGTGGGAT	0.527		NaN	T	PDGFRB	MPD								0	0	0	0.001855	0	12	303				
LINGO4	339398	broad.mit.edu	37	1	151773402	151773402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151773402G>C	uc001ezf.1	-	2	1969	c.1779C>G	c.(1777-1779)TTC>TTG	p.F593L		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	593	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAAGGTCAGAAGAGCTTGG	0.547		NaN											0	0	0	0.004007	0	17	59				
LINGO4	339398	broad.mit.edu	37	1	151774212	151774212	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151774212C>T	uc001ezf.1	-	2	1159	c.969G>A	c.(967-969)TTG>TTA	p.L323L		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	323	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAGGCAGTCAAGCCATGGA	0.597		NaN											0	0	0	0.013537	0	13	71				
LCE3A	353142	broad.mit.edu	37	1	152595518	152595518	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:152595518G>T	uc010pdt.1	-	1	62	c.62C>A	c.(61-63)CCA>CAA	p.P21Q		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	21					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGTGCTGGGCTCTTTGC	0.632		NaN											1	0	4.4004e-07	0.00333	4.70313e-07	22	47				
S100A9	6280	broad.mit.edu	37	1	153333180	153333180	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153333180G>A	uc001fbq.2	+	3	254	c.211G>A	c.(211-213)GAC>AAC	p.D71N		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	71	2; high affinity (Probable).|EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAATGCAGACAAGCAGCT	0.562		NaN											0	0	0	0.005524	0	37	53				
INTS3	65123	broad.mit.edu	37	1	153723691	153723691	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153723691C>T	uc009wom.2	+	8	926	c.705C>T	c.(703-705)TTC>TTT	p.F235F	INTS3_uc001fct.2_Silent_p.F235F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Silent_p.F29F|INTS3_uc010peb.1_Silent_p.F29F|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	236					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTAGACTTCTGCATCTCAC	0.542		NaN											0	0	0	0.001984	0	7	72				
NES	10763	broad.mit.edu	37	1	156640874	156640874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156640874C>T	uc001fpq.2	-	4	3239	c.3106G>A	c.(3106-3108)GAG>AAG	p.E1036K		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1036	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGCCCTCAGCCCCTCCC	0.667		NaN											0	0	0	0.010504	0	18	165				
C1orf92	149499	broad.mit.edu	37	1	156897392	156897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156897392C>T	uc001fqm.2	+	7	939	c.767C>T	c.(766-768)TCG>TTG	p.S256L	C1orf92_uc001fql.2_Missense_Mutation_p.S41L	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	256	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCCTCGTCTCGCTCAACCTG	0.662		NaN									OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	11	9				
CRP	1401	broad.mit.edu	37	1	159684367	159684367	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:159684367G>C	uc001ftw.2	-	1	13	c.-91C>G	c.(-93--89)ATCTA>ATGTA		CRP_uc001ftx.1_Translation_Start_Site|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor						acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAAGTCCTAGATCTCTTGCC	0.458		NaN											0	0	0	0.004672	0	3	12				
FCRLB	127943	broad.mit.edu	37	1	161697035	161697035	+	Splice_Site	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:161697035A>T	uc001gbh.2	+	8	1100	c.866_splice	c.e8-2	p.G289_splice	FCRLB_uc009wus.2_Splice_Site_p.G289_splice|FCRLB_uc001gbj.2_Splice_Site_p.V241_splice|FCRLB_uc001gbk.2_Splice_Site_p.G254_splice|FCRLB_uc001gbl.2_Splice_Site_p.V234_splice|FCRLB_uc001gbm.2_Splice_Site_p.G247_splice|FCRLB_uc001gbi.2_Splice_Site_p.G289_splice|FCRLB_uc001gbn.3_Splice_Site_p.G291_splice	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B							endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCATTCACAGGTTCTCCCC	0.507		NaN											0	0	0	0.009096	0	3	17				
CFH	3075	broad.mit.edu	37	1	196694341	196694341	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:196694341C>A	uc001gtj.3	+	12	2027	c.1787C>A	c.(1786-1788)TCC>TAC	p.S596Y		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	596	Sushi 10.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTGAAATTCTCCTGCAAACCA	0.393		NaN											1	0	0.00307968	0.00308	0.00320493	7	41				
CRB1	23418	broad.mit.edu	37	1	197411332	197411332	+	Silent	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:197411332G>T	uc001gtz.2	+	11	4050	c.3915G>T	c.(3913-3915)CCG>CCT	p.P1305P	CRB1_uc010poz.1_Silent_p.P1281P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P1193P|CRB1_uc010ppb.1_Silent_p.P769P|CRB1_uc010ppd.1_Silent_p.P786P|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1305	Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.P1305A(1)		ovary(5)|skin(3)|large_intestine(1)	9						CCTCTGATCCGTGTGTCAATG	0.493		NaN											1	0	1.96642e-18	0.006999	2.14384e-18	41	164				
PTPRC	5788	broad.mit.edu	37	1	198711037	198711037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:198711037C>T	uc001gur.1	+	24	2617	c.2437C>T	c.(2437-2439)CAG>TAG	p.Q813*	PTPRC_uc001gus.1_Nonsense_Mutation_p.Q765*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q652*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GACTCACATTCAGTTCACCAG	0.413		NaN											0	0	0	0.004672	0	3	32				
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437671C>T	uc001gwq.2	-	1	629	c.244G>A	c.(244-246)GAG>AAG	p.E82K	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						AAGTCGATCTCGCCGCCCCCT	0.652		NaN											0	0	0	0.006122	0	16	70				
PHLDA3	23612	broad.mit.edu	37	1	201437831	201437831	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437831C>T	uc001gwq.2	-	1	469	c.84G>A	c.(82-84)CGG>CGA	p.R28R	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	28	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						CGCAGCGCTTCCGCTTCCACA	0.721		NaN											0	0	0	0.001168	0	6	21				
LMOD1	25802	broad.mit.edu	37	1	201915321	201915321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201915321G>A	uc001gxb.2	-	1	396	c.148C>T	c.(148-150)CGG>TGG	p.R50W	LMOD1_uc010ppu.1_Missense_Mutation_p.R50W	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	50					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						TTTCTCTGCCGCAGCCCCACG	0.587		NaN											0	0	0	0.013537	0	13	54				
SLC45A3	85414	broad.mit.edu	37	1	205632625	205632625	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:205632625C>T	uc001hda.1	-	3	633	c.294G>A	c.(292-294)CTG>CTA	p.L98L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	98	Helical; Name=3; (Potential).				transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677		NaN	T	ETV1|ETV5|ELK4|ERG	prostate 								0	0	0	0.001984	0	6	30				
IKBKE	9641	broad.mit.edu	37	1	206653236	206653236	+	Missense_Mutation	SNP	G	G	A	rs143491598		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:206653236G>A	uc001hdz.1	+	11	1575	c.1207G>A	c.(1207-1209)GTC>ATC	p.V403I	IKBKE_uc009xbv.1_Missense_Mutation_p.V403I|IKBKE_uc001hea.1_Missense_Mutation_p.V318I	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	403					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CCCCAAGTTCGTCCCCAAAGT	0.592		NaN									OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	46				
PFKFB2	5208	broad.mit.edu	37	1	207242832	207242832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:207242832C>T	uc001hfg.2	+	11	1160	c.1051C>T	c.(1051-1053)CGA>TGA	p.R351*	PFKFB2_uc010psc.1_Nonsense_Mutation_p.R253*|PFKFB2_uc001hfh.2_Nonsense_Mutation_p.R351*|PFKFB2_uc009xcc.2_Nonsense_Mutation_p.R309*|PFKFB2_uc010psd.1_Nonsense_Mutation_p.R165*	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					GTTTGCACTTCGAGATCAAGA	0.463		NaN											0	0	0	0.001168	0	6	79				
CENPF	1063	broad.mit.edu	37	1	214814564	214814564	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:214814564C>T	uc001hkm.2	+	12	3057	c.2883C>T	c.(2881-2883)ATC>ATT	p.I961I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	961	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTTCCATCATTTCTCTAA	0.353		NaN											0	0	0	0.003163	0	14	63				
SMYD3	64754	broad.mit.edu	37	1	246021899	246021899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246021899G>C	uc001ibl.2	-	10	1070	c.975C>G	c.(973-975)ATC>ATG	p.I325M	SMYD3_uc001ibk.2_Missense_Mutation_p.I266M|SMYD3_uc001ibi.2_Missense_Mutation_p.I136M|SMYD3_uc001ibj.2_Missense_Mutation_p.I136M	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	325						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCAGCTGGTAGATGTTGATAT	0.507		NaN											0	0	0	0.009096	0	4	61				
CNST	163882	broad.mit.edu	37	1	246797846	246797846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246797846G>A	uc001ibp.2	+	6	1153	c.775G>A	c.(775-777)GAA>AAA	p.E259K	CNST_uc001ibo.3_Missense_Mutation_p.E259K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	259					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ATTTAATGGTGAAGATTTTGA	0.333		NaN											0	0	0	0.001168	0	6	52				
ZNF496	84838	broad.mit.edu	37	1	247464049	247464049	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:247464049C>T	uc001ico.2	-	9	2001	c.1536G>A	c.(1534-1536)CCG>CCA	p.P512P	ZNF496_uc009xgv.2_Silent_p.P548P|ZNF496_uc001icp.2_Silent_p.P512P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	512					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTTTTCCAGCGGCTCTTTGG	0.642		NaN											0	0	0	0.009096	0	4	110				
OR2L8	391190	broad.mit.edu	37	1	248112934	248112934	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248112934C>G	uc001idt.1	+	1	775	c.775C>G	c.(775-777)CTA>GTA	p.L259V	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTACACTTATCTACGTCCAAG	0.483		NaN											0	0	0	0.010818	0	25	73				
OR2L3	391192	broad.mit.edu	37	1	248224758	248224758	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248224758C>G	uc001idx.1	+	1	775	c.775C>G	c.(775-777)CTA>GTA	p.L259V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTACACTTATCTACGTCCAAG	0.493		NaN											0	0	0	0.004672	0	3	122				
ASB13	79754	broad.mit.edu	37	10	5691004	5691004	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:5691004T>C	uc001iig.2	-	4	490	c.446A>G	c.(445-447)CAT>CGT	p.H149R	ASB13_uc001iii.2_RNA|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.H149R	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	149	ANK 5.				intracellular signal transduction		protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(2;9.59e-09)		GGTCCCAAAATGGCAATCGTG	0.542		NaN											0	0	0	0.003271	0	34	118				
BMI1	648	broad.mit.edu	37	10	22616526	22616526	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:22616526C>G	uc001irh.2	+	4	851	c.212C>G	c.(211-213)TCA>TGA	p.S71*	BMI1_uc009xkg.2_Nonsense_Mutation_p.S214*	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	71					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TTTTTCAGGTCAGATAAAACT	0.264		NaN											0	0	0	0.001855	0	13	121				
NRP1	8829	broad.mit.edu	37	10	33619671	33619671	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:33619671G>C	uc001iwx.3	-	2	736	c.213C>G	c.(211-213)TTC>TTG	p.F71L	NRP1_uc001iwv.3_Missense_Mutation_p.F71L|NRP1_uc009xlz.2_Missense_Mutation_p.F71L|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.F71L|NRP1_uc001iwz.2_Missense_Mutation_p.F71L|NRP1_uc001ixa.2_Missense_Mutation_p.F71L|NRP1_uc001ixb.1_Missense_Mutation_p.F71L|NRP1_uc001ixc.1_Missense_Mutation_p.F71L	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	71	CUB 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTGAGGGTTGAAGTTGATCA	0.478		NaN											0	0	0	0.006214	0	10	44				
SYT15	83849	broad.mit.edu	37	10	46967671	46967671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:46967671C>T	uc001jea.2	-	4	559	c.406G>A	c.(406-408)GAG>AAG	p.E136K	SYT15_uc001jdz.2_Missense_Mutation_p.E136K|SYT15_uc001jeb.2_Missense_Mutation_p.E14K|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	136	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CTTTTGTCCTCCGGGAACTTG	0.617		NaN											0	0	0	0.00245	0	13	132				
PCDH15	65217	broad.mit.edu	37	10	55581860	55581860	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:55581860G>C	uc001jju.1	-	33	6021	c.5626C>G	c.(5626-5628)CAG>GAG	p.Q1876E	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (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)				GGTTCTCTCTGAGGGTCTGTT	0.388		NaN								HNSCC(58;0.16)			0	0	0	0.01441	0	58	67				
ZWINT	11130	broad.mit.edu	37	10	58118398	58118398	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:58118398A>T	uc001jjx.1	-	7	748	c.711T>A	c.(709-711)GAT>GAA	p.D237E	ZWINT_uc001jjy.1_Missense_Mutation_p.D190E|ZWINT_uc001jka.1_Missense_Mutation_p.D237E|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	237					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						GGGGTTTATCATCTGGAAGAT	0.532		NaN											0	0	0	0.006122	0	18	27				
NUDT13	25961	broad.mit.edu	37	10	74879774	74879774	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:74879774A>C	uc001jtj.2	+	3	209	c.84_splice	c.e3-2	p.R28_splice	NUDT13_uc010qkc.1_Splice_Site|NUDT13_uc010qkd.1_Splice_Site|NUDT13_uc009xqw.2_Splice_Site|NUDT13_uc001jtk.2_Splice_Site_p.R28_splice|NUDT13_uc010qke.1_Splice_Site|NUDT13_uc001jtl.2_Splice_Site_p.R28_splice	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13								hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					TCCCAAATACAGGTATTTATT	0.408		NaN											0	0	0	0.000602	0	5	41				
CYP26A1	1592	broad.mit.edu	37	10	94834560	94834560	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:94834560G>A	uc001kil.2	+	3	484	c.439G>A	c.(439-441)GAG>AAG	p.E147K	CYP26A1_uc001kik.1_Missense_Mutation_p.E78K|CYP26A1_uc001kim.1_Missense_Mutation_p.E45K	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	147					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CTTCAGCCGCGAGGCACTCGA	0.657		NaN											0	0	0	0.010729	0	10	16				
EIF3A	8661	broad.mit.edu	37	10	120795652	120795652	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:120795652C>T	uc001ldu.2	-	22	4194	c.4048G>A	c.(4048-4050)GAA>AAA	p.E1350K	EIF3A_uc010qsu.1_Missense_Mutation_p.E1316K	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1350					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCTCTTTTTCACCTTCTCTT	0.507		NaN											0	0	0	0.00499	0	17	45				
TUBGCP2	10844	broad.mit.edu	37	10	135098627	135098627	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:135098627G>A	uc001lmg.1	-	13	2343	c.1986C>T	c.(1984-1986)AAC>AAT	p.N662N	TUBGCP2_uc001lmf.1_Silent_p.N255N|TUBGCP2_uc010qvc.1_Silent_p.N690N|TUBGCP2_uc009ybk.1_Silent_p.N685N|TUBGCP2_uc010qvd.1_Silent_p.N532N|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	662					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGGCGGTTTTGTTGCTGATCC	0.607		NaN											0	0	0	0.004482	0	9	52				
ANO9	338440	broad.mit.edu	37	11	431718	431718	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:431718C>T	uc001lpi.2	-	7	600	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.R28Q	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	172	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGGCTGCTCCCGGAACATGTG	0.667		NaN											0	0	0	0.000602	0	5	17				
MOB2	81532	broad.mit.edu	37	11	1491480	1491480	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:1491480G>A	uc010qwz.1	-	5	919	c.729C>T	c.(727-729)GGC>GGT	p.G243G	MOB2_uc001lto.1_Silent_p.G127G|MOB2_uc001ltp.1_Missense_Mutation_p.R6W|MOB2_uc001ltq.1_Silent_p.G206G|MOB2_uc010qwy.1_Silent_p.G127G	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	212						nucleus|perinuclear region of cytoplasm	metal ion binding				0						TGTGGACCCCGCCGGCCCCGC	0.682		NaN											0	0	0	0.008291	0	11	32				
OR51F1	256892	broad.mit.edu	37	11	4790533	4790533	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:4790533G>A	uc010qyl.1	-	1	615	c.615C>T	c.(613-615)CTC>CTT	p.L205L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	205						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGTCAGGATGAGATCAATTA	0.413		NaN											0	0	0	0.008291	0	11	42				
FAM160A2	84067	broad.mit.edu	37	11	6232852	6232852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6232852G>C	uc001mcl.3	-	12	3162	c.2803C>G	c.(2803-2805)CTC>GTC	p.L935V	FAM160A2_uc001mck.3_Missense_Mutation_p.L949V	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	935					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AACTCCTTGAGAAATTCAGGG	0.557		NaN											0	0	0	0.014323	0	21	89				
APBB1	322	broad.mit.edu	37	11	6432324	6432324	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6432324C>T	uc001mdb.1	-	2	354	c.254G>A	c.(253-255)CGT>CAT	p.R85H	APBB1_uc001mdc.1_Missense_Mutation_p.R85H|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	85					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTCTGGTCACGGTGGGCCGT	0.652		NaN											0	0	0	0.008361	0	29	135				
OR6A2	8590	broad.mit.edu	37	11	6816130	6816130	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6816130G>C	uc001mes.1	-	1	1010	c.810C>G	c.(808-810)CTC>CTG	p.L270L		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAAAGCTGAGAGTGCCTTTG	0.463		NaN											0	0	0	0.010729	0	12	67				
FANCF	2188	broad.mit.edu	37	11	22647304	22647304	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:22647304G>C	uc001mql.1	-	1	84	c.53C>G	c.(52-54)TCA>TGA	p.S18*		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	18					DNA repair	nucleoplasm	protein binding			skin(1)	1						GGTAGTGCTTGAGACCGCCAG	0.637		NaN	N|F			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.001984	0	6	31				
DDB2	1643	broad.mit.edu	37	11	47236784	47236784	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:47236784G>C	uc001neb.2	+	1	292	c.97G>C	c.(97-99)GAG>CAG	p.E33Q	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.E33Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.E33Q|DDB2_uc001nef.2_5'UTR|DDB2_uc001neg.2_5'Flank|DDB2_uc001neh.2_5'Flank	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	33					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						GCTGGAGCCCGAGGCCAAGAA	0.612		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.004672	0	3	161				
C11orf48	79081	broad.mit.edu	37	11	62435136	62435136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62435136C>G	uc001nue.2	-	4	832	c.397G>C	c.(397-399)GAA>CAA	p.E133Q	C11orf48_uc001nuf.2_Missense_Mutation_p.E133Q|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.E133Q	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	159											0						CAAGCATCTTCTTCATCCTGG	0.537		NaN											0	0	0	0.00245	0	14	315				
ZBTB3	79842	broad.mit.edu	37	11	62521497	62521497	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62521497G>A	uc001nuz.2	-	1	160	c.38C>T	c.(37-39)TCG>TTG	p.S13L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CTTGCCAGGCGATGCCTCTAC	0.597		NaN											0	0	0	0.008291	0	9	56				
SLC22A12	116085	broad.mit.edu	37	11	64359356	64359356	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:64359356G>A	uc001oam.1	+	1	1075	c.328G>A	c.(328-330)GAG>AAG	p.E110K	SLC22A12_uc009ypr.1_Missense_Mutation_p.E110K|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.E110K|SLC22A12_uc001oan.1_Missense_Mutation_p.E110K|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	110					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CAGCTGGAGCGAGGCCGACAC	0.677		NaN											0	0	0	0.001168	0	6	37				
POLA2	23649	broad.mit.edu	37	11	65055264	65055264	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65055264G>A	uc001odj.2	+	11	1426	c.1084G>A	c.(1084-1086)GAC>AAC	p.D362N	POLA2_uc010rod.1_Missense_Mutation_p.D154N|POLA2_uc001odk.2_Missense_Mutation_p.D59N	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	362					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	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CCCCCTGCTTGACCTGATTGC	0.502		NaN											0	0	0	0.000602	0	5	74				
POLA2	23649	broad.mit.edu	37	11	65063047	65063047	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65063047C>G	uc001odj.2	+	16	1839	c.1497C>G	c.(1495-1497)CTC>CTG	p.L499L	POLA2_uc010rod.1_Silent_p.L291L|POLA2_uc001odk.2_Silent_p.L196L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	499					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	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	GCCGAATACTCAAGCACATCT	0.498		NaN											0	0	0	0.010729	0	10	130				
FRMD8	83786	broad.mit.edu	37	11	65168229	65168229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65168229C>T	uc001odu.3	+	9	1154	c.962C>T	c.(961-963)TCG>TTG	p.S321L	FRMD8_uc009yqj.2_Missense_Mutation_p.S265L|FRMD8_uc010rof.1_Missense_Mutation_p.S287L	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	321	FERM.					cytoskeleton	binding	p.S321S(1)		lung(1)|pancreas(1)	2						CAGGAGCTGTCGTGGGACCAC	0.647		NaN											0	0	0	0.00308	0	8	44				
RIN1	9610	broad.mit.edu	37	11	66100213	66100213	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:66100213C>T	uc001ohn.1	-	10	2013	c.1886G>A	c.(1885-1887)CGA>CAA	p.R629Q	RIN1_uc010roy.1_Missense_Mutation_p.R260Q|RIN1_uc009yrd.1_Missense_Mutation_p.R322Q|RIN1_uc010roz.1_Missense_Mutation_p.R524Q|RIN1_uc010rpa.1_Missense_Mutation_p.R463Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	629	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						ATAGGCTACTCGGAGGAGGTG	0.592		NaN											0	0	0	0.008291	0	11	84				
INPPL1	3636	broad.mit.edu	37	11	71946359	71946359	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71946359C>G	uc001osf.2	+	23	2670	c.2523C>G	c.(2521-2523)CTC>CTG	p.L841L	INPPL1_uc001osg.2_Silent_p.L599L	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	841					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGGTTGCACTCAAATCCATGA	0.572		NaN											0	0	0	0.008871	0	20	99				
INPPL1	3636	broad.mit.edu	37	11	71949157	71949157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71949157C>G	uc001osf.2	+	27	3771	c.3624C>G	c.(3622-3624)ATC>ATG	p.I1208M	INPPL1_uc001osg.2_Missense_Mutation_p.I966M	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1208	SAM.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGCGGGCCATCGGCTTGGAGC	0.711		NaN									OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	21				
STARD10	10809	broad.mit.edu	37	11	72469670	72469670	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:72469670G>C	uc001osy.2	-	4	655	c.364C>G	c.(364-366)CCC>GCC	p.P122A	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.P122A|STARD10_uc001ota.2_Missense_Mutation_p.P76A|STARD10_uc001otb.2_Missense_Mutation_p.P122A	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	122	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGGGCTTGGGACACCTCCCT	0.582		NaN											0	0	0	0.004672	0	3	19				
C11orf30	56946	broad.mit.edu	37	11	76257114	76257114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:76257114G>A	uc001oxl.2	+	20	3690	c.3547G>A	c.(3547-3549)GAA>AAA	p.E1183K	C11orf30_uc001oxm.2_Missense_Mutation_p.E1085K|C11orf30_uc010rsb.1_Missense_Mutation_p.E1198K|C11orf30_uc010rsc.1_Missense_Mutation_p.E1184K|C11orf30_uc001oxn.2_Missense_Mutation_p.E1184K|C11orf30_uc010rsd.1_Missense_Mutation_p.E1092K|C11orf30_uc010rse.1_Missense_Mutation_p.E430K|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1183					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GCTCACTGGTGAAGCAGGATC	0.478		NaN											0	0	0	0.003163	0	14	46				
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:92523337G>A	uc001pdj.3	+	7	4581	c.4564G>A	c.(4564-4566)GAG>AAG	p.E1522K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1522	Cadherin 14.|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)				CTATACTGCCGAGAGGCTGGA	0.498		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.008871	0	21	117				
KIAA1377	57562	broad.mit.edu	37	11	101849120	101849120	+	Missense_Mutation	SNP	G	G	A	rs150274963	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:101849120G>A	uc001pgm.2	+	7	3158	c.2888G>A	c.(2887-2889)CGG>CAG	p.R963Q	KIAA1377_uc001pgn.2_Missense_Mutation_p.R919Q|KIAA1377_uc010run.1_Missense_Mutation_p.R764Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	963							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAACTAAGCGGAGAAATATT	0.333		NaN											0	0	0	0.000602	0	5	180				
CACNA1C	775	broad.mit.edu	37	12	2797760	2797760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:2797760G>A	uc009zdu.1	+	49	6494	c.6181G>A	c.(6181-6183)GAG>AAG	p.E2061K	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1975K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1967K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1984K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2019K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2026K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1998K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1995K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2013K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2006K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1785K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1749K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1714K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1774K|CACNA1C_uc010sea.1_Missense_Mutation_p.E669K|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E296K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2061	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAGGGGGTCGAGTCCAGTGA	0.692		NaN											0	0	0	0.013537	0	13	53				
FGF6	2251	broad.mit.edu	37	12	4553375	4553375	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:4553375C>T	uc001qmr.1	-	2	418	c.374G>A	c.(373-375)CGA>CAA	p.R125Q		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	125					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CACCACGCCTCGCTCCACAGT	0.537		NaN											0	0	0	0.010729	0	9	36				
PZP	5858	broad.mit.edu	37	12	9353646	9353646	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:9353646C>G	uc001qvl.2	-	6	541	c.512G>C	c.(511-513)AGA>ACA	p.R171T	PZP_uc009zgl.2_Missense_Mutation_p.R40T	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AATTCGATTTCTTCTTGGGTT	0.438		NaN											0	0	0	0.003163	0	13	60				
PPFIBP1	8496	broad.mit.edu	37	12	27844717	27844717	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:27844717G>A	uc001ric.1	+	27	3116	c.2739G>A	c.(2737-2739)TTG>TTA	p.L913L	PPFIBP1_uc010sjr.1_Silent_p.L744L|PPFIBP1_uc001rib.1_Silent_p.L907L|PPFIBP1_uc001ria.2_Silent_p.L882L|PPFIBP1_uc001rid.1_Silent_p.L760L|PPFIBP1_uc001rif.1_Silent_p.L420L	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	913					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353		NaN											0	0	0	0.013537	0	12	63				
PDZRN4	29951	broad.mit.edu	37	12	41587902	41587902	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:41587902C>T	uc010skn.1	+	3	226	c.158C>T	c.(157-159)TCG>TTG	p.S53L		NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	252	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGAACATCGACTGAAGGA	0.318		NaN											0	0	0	0.009096	0	4	29				
DAZAP2	9802	broad.mit.edu	37	12	51636147	51636147	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:51636147C>G	uc010snd.1	+	4	519	c.335C>G	c.(334-336)TCA>TGA	p.S112*	DAZAP2_uc001ryb.2_Missense_Mutation_p.Q116E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q56E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q106E|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	Error:Variant_position_missing_in_Q15038_after_alignment							WW domain binding				0						CAATGCTGCTCAGCTTGCAGT	0.537		NaN											0	0	0	0.001984	0	7	333				
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56478817G>C	uc001sjh.2	+	3	466	c.273G>C	c.(271-273)ATG>ATC	p.M91I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	91	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473		NaN											0	0	0	0.012213	0	33	83		Valid		
ESYT1	23344	broad.mit.edu	37	12	56531825	56531825	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56531825C>A	uc001sjq.2	+	20	2264	c.2214C>A	c.(2212-2214)CTC>CTA	p.L738L	ESYT1_uc001sjr.2_Silent_p.L748L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	738				L -> F (in Ref. 2; BAB15139).		integral to membrane				ovary(4)|skin(1)	5						AAGTGCGTCTCACCACAGTCT	0.473		NaN											1	0	2.51541e-25	0.004878	2.76314e-25	36	93				
LRP1	4035	broad.mit.edu	37	12	57556275	57556275	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:57556275G>A	uc001snd.2	+	14	2844	c.2378G>A	c.(2377-2379)CGA>CAA	p.R793Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	793	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R793*(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGAGATCCGAATGTATGAT	0.607		NaN											0	0	0	0.001984	0	7	77				
PTPRB	5787	broad.mit.edu	37	12	70970178	70970178	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:70970178G>A	uc001swb.3	-	9	2202	c.2172C>T	c.(2170-2172)TTC>TTT	p.F724F	PTPRB_uc010sto.1_Silent_p.F724F|PTPRB_uc010stp.1_Silent_p.F634F|PTPRB_uc001swc.3_Silent_p.F942F|PTPRB_uc001swa.3_Intron|PTPRB_uc001swd.3_Silent_p.F941F|PTPRB_uc009zrr.1_Silent_p.F821F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	724	Fibronectin type-III 8.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCTTGGCTGAAGGAGTGAT	0.512		NaN											0	0	0	0.000602	0	4	20				
NAP1L1	4673	broad.mit.edu	37	12	76447602	76447602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:76447602C>G	uc001sxw.2	-	9	1130	c.718G>C	c.(718-720)GAT>CAT	p.D240H	NAP1L1_uc001sxv.2_Missense_Mutation_p.D198H|NAP1L1_uc001sxz.2_Missense_Mutation_p.D171H|NAP1L1_uc001sxx.2_Missense_Mutation_p.D240H|NAP1L1_uc001sxy.2_Missense_Mutation_p.D177H|NAP1L1_uc010sty.1_Missense_Mutation_p.D197H|NAP1L1_uc010stz.1_Missense_Mutation_p.D57H|NAP1L1_uc010sua.1_Missense_Mutation_p.D240H|NAP1L1_uc001syb.2_Missense_Mutation_p.D240H|NAP1L1_uc001sya.2_Missense_Mutation_p.D198H|NAP1L1_uc001syc.2_Missense_Mutation_p.D251H	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	240					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				TCAGAATCATCTGGTTCTGAC	0.348		NaN											0	0	0	0.00499	0	17	33				
NTN4	59277	broad.mit.edu	37	12	96104265	96104265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:96104265G>C	uc001tei.2	-	5	1583	c.1134C>G	c.(1132-1134)TTC>TTG	p.F378L	NTN4_uc009ztf.2_Missense_Mutation_p.F378L|NTN4_uc009ztg.2_Missense_Mutation_p.F341L	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	378	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GGTCACGATAGAAGCCTGGCT	0.483		NaN											0	0	0	0.013537	0	13	52				
UTP20	27340	broad.mit.edu	37	12	101686964	101686964	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:101686964G>A	uc001tia.1	+	11	1348	c.1192G>A	c.(1192-1194)GAA>AAA	p.E398K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	398					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GAGCAGATTTGAAAAACGTTT	0.353		NaN											0	0	0	0.00245	0	15	39				
CCDC53	51019	broad.mit.edu	37	12	102455053	102455053	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:102455053G>A	uc010svw.1	-	2	282	c.123C>T	c.(121-123)CTC>CTT	p.L41L	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Silent_p.L41L	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	41						WASH complex	protein binding				0						AAAAGCGGTTGAGGAACTGTA	0.438		NaN											0	0	0	0.00245	0	11	34				
STAB2	55576	broad.mit.edu	37	12	104071314	104071314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:104071314G>C	uc001tjw.2	+	25	2916	c.2730G>C	c.(2728-2730)GAG>GAC	p.E910D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	910	Extracellular (Potential).|EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ACTGCTCGGAGATCAACAACT	0.572		NaN											0	0	0	0.013726	0	33	89				
MORN3	283385	broad.mit.edu	37	12	122091125	122091125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122091125C>T	uc001uax.2	-	4	675	c.504G>A	c.(502-504)ATG>ATA	p.M168I	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	168	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCGTTCTTCATGCCTCTCT	0.587		NaN											0	0	0	0.006214	0	9	44				
GPR109A	338442	broad.mit.edu	37	12	123187019	123187019	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:123187019G>A	uc001ucx.1	-	1	886	c.812C>T	c.(811-813)TCG>TTG	p.S271L	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	271	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	CAGGTCCACCGAGCGGTACAC	0.542		NaN											0	0	0	0.000602	0	5	52				
RNF17	56163	broad.mit.edu	37	13	25428222	25428222	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:25428222G>C	uc001upr.2	+	25	3591	c.3550G>C	c.(3550-3552)GAG>CAG	p.E1184Q	RNF17_uc010tdd.1_Missense_Mutation_p.E1043Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1180Q|RNF17_uc001ups.2_Missense_Mutation_p.E1123Q|RNF17_uc010aac.2_Missense_Mutation_p.E382Q|RNF17_uc010aad.2_Missense_Mutation_p.E236Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1184					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACGTATTTGAGGCAACAGT	0.393		NaN											0	0	0	0.001984	0	7	38				
RB1	5925	broad.mit.edu	37	13	48881462	48881462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:48881462C>T	uc001vcb.2	+	2	350	c.184C>T	c.(184-186)CAG>TAG	p.Q62*	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	62					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(13)|p.?(3)|p.Q62*(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATTATGTCAGAAATTAAA	0.323		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.001168	0	6	26		Valid		
RNF219	79596	broad.mit.edu	37	13	79219061	79219061	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79219061A>G	uc001vkw.1	-	2	203	c.144T>C	c.(142-144)AAT>AAC	p.N48N	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.N48N	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	48	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACTGGCTATTATTCTTCAACC	0.368		NaN											0	0	0	0.008871	0	20	66				
RBM26	64062	broad.mit.edu	37	13	79939829	79939829	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79939829T>C	uc001vkz.2	-	9	1330	c.1316A>G	c.(1315-1317)AAT>AGT	p.N439S	RBM26_uc001vky.2_Missense_Mutation_p.N434S|RBM26_uc001vla.2_Missense_Mutation_p.N434S|RBM26_uc001vkx.2_Missense_Mutation_p.N146S	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	434					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCTTCAGGATTGTAGCCATC	0.353		NaN											0	0	0	0.00308	0	7	62				
KDELC1	79070	broad.mit.edu	37	13	103450976	103450976	+	Silent	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:103450976A>C	uc001vpq.3	-	1	429	c.45T>G	c.(43-45)GTT>GTG	p.V15V	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	15						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGAGTGCTGGAACTGTCGCCA	0.532		NaN											0	0	0	0.013537	0	12	43				
OR4L1	122742	broad.mit.edu	37	14	20528789	20528789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:20528789G>A	uc001vwn.1	+	1	586	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATACACCCTGGAATTATTTGT	0.408		NaN											0	0	0	0.01441	0	59	80				
MRPL52	122704	broad.mit.edu	37	14	23299420	23299420	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:23299420C>T	uc001wgw.3	+	3	144	c.114C>T	c.(112-114)TCC>TCT	p.S38S	MRPL52_uc001wgx.3_Silent_p.S37S|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Silent_p.S38S	NM_178336	NP_848026	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52 isoform a	38					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAACCCCTCCGGCTACGGGC	0.597		NaN											0	0	0	0.007291	0	27	94				
ZFYVE26	23503	broad.mit.edu	37	14	68265271	68265271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68265271G>C	uc001xka.2	-	11	1847	c.1708C>G	c.(1708-1710)CTG>GTG	p.L570V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L570V|ZFYVE26_uc010tta.1_Missense_Mutation_p.L570V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	570					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCAGGCACAGAGAGTCAGGA	0.478		NaN											0	0	0	0.000602	0	5	47				
ZFYVE26	23503	broad.mit.edu	37	14	68273295	68273295	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68273295C>G	uc001xka.2	-	6	1123	c.984G>C	c.(982-984)CTG>CTC	p.L328L	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L328L|ZFYVE26_uc010tta.1_Silent_p.L328L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	328					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTTGTTGCTCAGGCAGTAGA	0.498		NaN											0	0	0	0.001984	0	7	34				
ZFP36L1	677	broad.mit.edu	37	14	69257106	69257106	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:69257106G>C	uc001xkh.1	-	2	291	c.161C>G	c.(160-162)TCA>TGA	p.S54*	ZFP36L1_uc001xki.1_Nonsense_Mutation_p.S54*	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	54					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGGTGACTGAGTGCCTCCG	0.632		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	11	22		Valid		
TTC9	23508	broad.mit.edu	37	14	71137855	71137855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:71137855G>C	uc001xmi.2	+	3	995	c.652G>C	c.(652-654)GAA>CAA	p.E218Q		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	218							binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CTCCCAGAGAGAAAAAGAAGC	0.557		NaN											0	0	0	0.001984	0	7	28				
PTPN21	11099	broad.mit.edu	37	14	88945434	88945434	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:88945434C>T	uc001xwv.3	-	13	2672	c.2341G>A	c.(2341-2343)GCA>ACA	p.A781T	PTPN21_uc010twc.1_Missense_Mutation_p.A577T	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	781						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TGGGCCTCTGCGGTCGTGCGG	0.697		NaN											0	0	0	0.001984	0	7	45				
TDP1	55775	broad.mit.edu	37	14	90442142	90442142	+	Silent	SNP	G	G	A	rs139270583	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:90442142G>A	uc001xxy.2	+	7	1073	c.774G>A	c.(772-774)GCG>GCA	p.A258A	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.A258A|TDP1_uc010atn.2_Silent_p.A258A|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.A258A	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	258					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGATATTGCGTTTGGAACAC	0.373		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.006122	0	18	98				
C14orf68	283600	broad.mit.edu	37	14	100795778	100795778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:100795778C>G	uc001yhc.2	+	6	796	c.723C>G	c.(721-723)ATC>ATG	p.I241M	C14orf68_uc001yhd.2_Missense_Mutation_p.I95M	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	241	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				TGGACGTGATCAAGTCGAGAC	0.667		NaN											0	0	0	0.004482	0	9	58				
BRF1	2972	broad.mit.edu	37	14	105688029	105688029	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:105688029G>A	uc001yqp.2	-	11	1634	c.1271C>T	c.(1270-1272)TCA>TTA	p.S424L	BRF1_uc010tyo.1_Missense_Mutation_p.S309L|BRF1_uc010typ.1_Missense_Mutation_p.S309L|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Missense_Mutation_p.S220L|BRF1_uc001yqo.2_Missense_Mutation_p.S186L|BRF1_uc010axg.1_Missense_Mutation_p.S397L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	424					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GATGGAGTCTGAGATGCCCAG	0.672		NaN											0	0	0	0.001984	0	6	19				
FMN1	342184	broad.mit.edu	37	15	33358805	33358805	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:33358805G>C	uc001zhf.3	-	1	1281	c.1281C>G	c.(1279-1281)CTC>CTG	p.L427L	FMN1_uc001zhg.2_Silent_p.L427L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTGCGCTTGAGAGCTTCCA	0.532		NaN											0	0	0	0.001984	0	6	21				
RAD51	5888	broad.mit.edu	37	15	40993283	40993283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:40993283G>A	uc001zmi.3	+	3	408	c.109G>A	c.(109-111)GAT>AAT	p.D37N	RAD51_uc010bbw.2_Missense_Mutation_p.D37N|RAD51_uc010bbx.2_Missense_Mutation_p.D37N|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.D37N|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	37					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAATGCCAACGATGTGAAGAA	0.303		NaN						Homologous_recombination					0	0	0	0.008291	0	10	44				
DNAJC17	55192	broad.mit.edu	37	15	41071455	41071455	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41071455C>G	uc001zms.1	-	4	272	c.261G>C	c.(259-261)CAG>CAC	p.Q87H	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	87					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATCAAGTTTCTGGGTCCTCT	0.507		NaN											0	0	0	0.003163	0	14	89				
INO80	54617	broad.mit.edu	37	15	41272569	41272569	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41272569G>A	uc001zni.2	-	36	4736	c.4523C>T	c.(4522-4524)TCA>TTA	p.S1508L	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1508	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						AGAGGCGCTTGAAGGTCCAAA	0.547		NaN											0	0	0	0.008291	0	10	52				
GANC	2595	broad.mit.edu	37	15	42632010	42632010	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632010A>C	uc001zpi.2	+	17	2301	c.1987A>C	c.(1987-1989)ACC>CCC	p.T663P		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGAGGAACACACCCGACTCAT	0.572		NaN											0	0	0	0.001168	0	5	41				
GANC	2595	broad.mit.edu	37	15	42632035	42632035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632035G>C	uc001zpi.2	+	17	2326	c.2012G>C	c.(2011-2013)AGA>ACA	p.R671T		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GAAGCCATCAGAGAGCGCTAT	0.542		NaN											0	0	0	0.001168	0	6	41				
DMXL2	23312	broad.mit.edu	37	15	51758502	51758502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:51758502G>C	uc002abf.2	-	30	7621	c.7396C>G	c.(7396-7398)CTT>GTT	p.L2466V	DMXL2_uc002abd.2_Missense_Mutation_p.L537V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2467V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1830V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2466						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GACAAAGGAAGAAATGGCTGC	0.209		NaN											0	0	0	0.001855	0	13	51				
TMOD2	29767	broad.mit.edu	37	15	52074980	52074980	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52074980G>A	uc002abk.2	+	7	908	c.687G>A	c.(685-687)AAG>AAA	p.K229K	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.K185K	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	229					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		CTCACGTGAAGAAGTTCAGCC	0.433		NaN											0	0	0	0.000602	0	5	159				
TMOD2	29767	broad.mit.edu	37	15	52075011	52075011	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52075011G>C	uc002abk.2	+	7	939	c.718G>C	c.(718-720)GAC>CAC	p.D240H	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.D196H	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	240					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TCGCAGCAATGACCCTGTGGC	0.393		NaN											0	0	0	0.009096	0	4	121				
FAM63B	54629	broad.mit.edu	37	15	59123984	59123984	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:59123984G>C	uc002afj.2	+	6	1439	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q	FAM63B_uc002afi.2_Missense_Mutation_p.E413Q|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_Intron	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	413										central_nervous_system(1)	1						CTTTGTAGCTGAGCAGTTTCT	0.338		NaN											0	0	0	0.000602	0	5	54				
TLN2	83660	broad.mit.edu	37	15	62944237	62944237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:62944237C>G	uc002alb.3	+	3	268	c.268C>G	c.(268-270)CAG>GAG	p.Q90E		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	90	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ACAGAGACCTCAGAAAATCCG	0.403		NaN											0	0	0	0.006214	0	10	36				
HERC1	8925	broad.mit.edu	37	15	63930948	63930948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:63930948C>G	uc002amp.2	-	62	12077	c.11929G>C	c.(11929-11931)GAT>CAT	p.D3977H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3977					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ATTTGTTCATCCATGCCGTTA	0.393		NaN											0	0	0	0.013537	0	12	236				
ANKDD1A	348094	broad.mit.edu	37	15	65242076	65242076	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:65242076C>G	uc002aoa.2	+	14	1395	c.1366C>G	c.(1366-1368)CAG>GAG	p.Q456E	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.Q333E	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	456	Death.				signal transduction					ovary(1)	1						CAGGAGCTATCAGGAGCACGG	0.622		NaN											0	0	0	0.004672	0	3	79				
CLK3	1198	broad.mit.edu	37	15	74912356	74912356	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74912356C>T	uc010uln.1	+	3	1064	c.603C>T	c.(601-603)GAC>GAT	p.D201D	CLK3_uc002ayg.3_Silent_p.D53D|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.D201D|CLK3_uc002ayj.3_Silent_p.D53D|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	201	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GCAGCCATGACCGCCTGCCCT	0.587		NaN											0	0	0	0.00245	0	13	51				
EDC3	80153	broad.mit.edu	37	15	74927826	74927826	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74927826G>C	uc002ayn.2	-	9	1604	c.1116C>G	c.(1114-1116)GTC>GTG	p.V372V	EDC3_uc002ayo.2_Silent_p.V372V|EDC3_uc002aym.2_Silent_p.V372V	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	372	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						CCAACATCTTGACAAAATTGG	0.522		NaN									OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	10	79				
NTRK3	4916	broad.mit.edu	37	15	88476307	88476307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:88476307C>T	uc002bme.1	-	15	1987	c.1825G>A	c.(1825-1827)GAT>AAT	p.D609N	NTRK3_uc002bmh.2_Missense_Mutation_p.D601N|NTRK3_uc002bmf.1_Missense_Mutation_p.D609N|NTRK3_uc010upl.1_Missense_Mutation_p.D511N|NTRK3_uc010bnh.1_Missense_Mutation_p.D601N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	609	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCCCCATCGCCGCACACT	0.552		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.001168	0	6	46				
AXIN1	8312	broad.mit.edu	37	16	339472	339472	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:339472G>C	uc002cgp.1	-	10	2607	c.2430C>G	c.(2428-2430)TTC>TTG	p.F810L	AXIN1_uc002cgq.1_Missense_Mutation_p.F774L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	810	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCAGCTCCTTGAACTGGCCCA	0.627		NaN											0	0	0	0.00245	0	13	52				
C16orf5	29965	broad.mit.edu	37	16	4563773	4563773	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:4563773C>G	uc002cwu.2	-	3	460	c.165G>C	c.(163-165)GAG>GAC	p.E55D	C16orf5_uc002cwv.2_Missense_Mutation_p.E55D|C16orf5_uc002cww.2_Missense_Mutation_p.E55D|C16orf5_uc010uxl.1_Missense_Mutation_p.E55D|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	55	Pro-rich.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)				GACCCGGCGGCTCATAGGGTG	0.647		NaN											0	0	0	0.003163	0	15	53				
NPIP	9284	broad.mit.edu	37	16	15045813	15045813	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:15045813C>G	uc002dcy.3	+	8	984	c.984C>G	c.(982-984)CTC>CTG	p.L328L	NPIP_uc002dcx.3_RNA	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein	328	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						ATGATAATCTCAAGACACCTC	0.468		NaN											0	0	0	0.001168	0	4	60				
LAT	27040	broad.mit.edu	37	16	28997739	28997739	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:28997739G>A	uc002dsd.2	+	5	634	c.282G>A	c.(280-282)ACG>ACA	p.T94T	uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.T130T|LAT_uc002dsb.2_Silent_p.T94T|LAT_uc002dsc.2_Silent_p.T93T|LAT_uc010vdk.1_Silent_p.T94T|LAT_uc010vdl.1_Silent_p.T93T	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	94	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				CCCACCGGACGCCATCTTCCC	0.627		NaN											0	0	0	0.009535	0	29	67				
SPN	6693	broad.mit.edu	37	16	29676187	29676187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:29676187G>A	uc002dtm.2	+	2	1274	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.E380K|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	380	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GGTGGCCAGTGAGGATGGGGC	0.652		NaN											0	0	0	0.000602	0	3	14				
CORO1A	11151	broad.mit.edu	37	16	30199708	30199708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:30199708C>A	uc002dww.2	+	10	1214	c.1092C>A	c.(1090-1092)TAC>TAA	p.Y364*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Nonsense_Mutation_p.Y364*|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Nonsense_Mutation_p.Y258*|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	364					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						AGGACCTGTACCCACCCACCG	0.647		NaN											1	0	6.05902e-23	0.003755	6.63898e-23	30	94				
GNAO1	2775	broad.mit.edu	37	16	56385394	56385394	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:56385394C>G	uc002eiu.3	+	7	1719	c.822C>G	c.(820-822)CTC>CTG	p.L274L		NM_020988	NP_066268	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	274					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				AGAAAGATCTCTTTGGCGAGA	0.498		NaN											0	0	0	0.001168	0	5	58				
NLRC5	84166	broad.mit.edu	37	16	57059987	57059987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:57059987C>A	uc002ekk.1	+	6	1357	c.1132C>A	c.(1132-1134)CAC>AAC	p.H378N	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.H183N|NLRC5_uc002ekl.2_Missense_Mutation_p.H183N|NLRC5_uc002ekm.2_Missense_Mutation_p.H183N|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	378	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATATGTGAATCACTTCTTCAG	0.537		NaN											1	0	1.01871e-10	0.008871	1.10234e-10	19	115				
CDH16	1014	broad.mit.edu	37	16	66950200	66950200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:66950200C>T	uc002eql.2	-	4	335	c.262G>A	c.(262-264)GAG>AAG	p.E88K	CDH16_uc010cdy.2_Missense_Mutation_p.E88K|CDH16_uc002eqm.2_Missense_Mutation_p.E88K	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	88	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTGCCTGCTCCTCTCGGTCC	0.622		NaN											0	0	0	0.008291	0	10	54				
PHLPP2	23035	broad.mit.edu	37	16	71701149	71701149	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:71701149G>C	uc002fax.2	-	11	1722	c.1716C>G	c.(1714-1716)CTC>CTG	p.L572L	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L572L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	572	LRR 15.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CCAGCACCTCGAGGGGGATGT	0.478		NaN											0	0	0	0.001168	0	6	71				
KIAA0664	23277	broad.mit.edu	37	17	2605236	2605236	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:2605236C>G	uc002fuy.1	-	4	563	c.477G>C	c.(475-477)CTG>CTC	p.L159L	KIAA0664_uc002fux.1_Silent_p.L91L	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	159							binding			breast(2)	2						TGAAGACACTCAGGAAGGACA	0.667		NaN											0	0	0	0.004482	0	6	42				
GGT6	124975	broad.mit.edu	37	17	4461953	4461953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:4461953C>T	uc002fyd.3	-	4	899	c.839G>A	c.(838-840)GGA>GAA	p.G280E	GGT6_uc010vsb.1_Missense_Mutation_p.G132E|GGT6_uc002fyc.3_Missense_Mutation_p.G248E|GGT6_uc010vsc.1_Missense_Mutation_p.G286E	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	280	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						CCCCAGGTCTCCCGCCAGTAG	0.657		NaN											0	0	0	0.006122	0	17	5				
DHX33	56919	broad.mit.edu	37	17	5365687	5365687	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:5365687C>T	uc002gca.2	-	3	632	c.630G>A	c.(628-630)GTG>GTA	p.V210V	DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Silent_p.V37V|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	210	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GTGCAGCTTTCACCACTCCAA	0.453		NaN											0	0	0	0.004878	0	38	19				
CD68	968	broad.mit.edu	37	17	7483018	7483018	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7483018C>T	uc002ghv.2	+	1	214	c.23C>T	c.(22-24)TCG>TTG	p.S8L	CD68_uc002ghu.2_Missense_Mutation_p.S8L	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	8						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						GTGCTTTTCTCGGGGGCCCTG	0.642		NaN											0	0	0	0.004007	0	15	5				
TP53	7157	broad.mit.edu	37	17	7578513	7578513	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7578513C>G	uc002gim.2	-	5	611	c.417G>C	c.(415-417)AAG>AAC	p.K139N	TP53_uc002gig.1_Missense_Mutation_p.K139N|TP53_uc002gih.2_Missense_Mutation_p.K139N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K7N|TP53_uc010cng.1_Missense_Mutation_p.K7N|TP53_uc002gii.1_Missense_Mutation_p.K7N|TP53_uc010cnh.1_Missense_Mutation_p.K139N|TP53_uc010cni.1_Missense_Mutation_p.K139N|TP53_uc002gij.2_Missense_Mutation_p.K139N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K46N|TP53_uc002gio.2_Missense_Mutation_p.K7N|TP53_uc010vug.1_Missense_Mutation_p.K100N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	139	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> N (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (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.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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)		CAGGGCAGGTCTTGGCCAGTT	0.567		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)			0	0	0	0.013114	0	41	12		Valid		
MYH10	4628	broad.mit.edu	37	17	8395764	8395764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:8395764C>T	uc002gll.2	-	32	4525	c.4429G>A	c.(4429-4431)GAG>AAG	p.E1477K	MYH10_uc002glm.2_Missense_Mutation_p.E1508K|MYH10_uc010cnx.2_Missense_Mutation_p.E1486K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1477	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCTCTGGCCTCGGCTTCGGCC	0.592		NaN											0	0	0	0.009096	0	4	72				
MYH13	8735	broad.mit.edu	37	17	10209797	10209797	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:10209797C>A	uc002gmk.1	-	37	5535	c.5445G>T	c.(5443-5445)CAG>CAT	p.Q1815H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1815	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTTTCTGGATCTGCTTCTTCC	0.537		NaN											1	0	8.00594e-06	0.007413	8.47344e-06	19	184				
UNC119	9094	broad.mit.edu	37	17	26879509	26879509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:26879509G>A	uc002hbk.2	-	1	138	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	UNC119_uc002hbm.2_Nonsense_Mutation_p.Q23*	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	23					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)					GCCACGCTCTGGCCCGAGGGC	0.751		NaN											0	0	0	0.004672	0	3	8				
CPD	1362	broad.mit.edu	37	17	28749923	28749923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:28749923G>C	uc002hfb.1	+	5	1554	c.1539G>C	c.(1537-1539)TTG>TTC	p.L513F	CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	513	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AAATCTTCTTGAGAAGGTTTG	0.393		NaN											0	0	0	0.00874	0	38	76				
PSMD11	5717	broad.mit.edu	37	17	30807593	30807593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:30807593C>T	uc010cta.1	+	13	1253	c.1213C>T	c.(1213-1215)CAG>TAG	p.Q405*	PSMD11_uc002hhm.2_Nonsense_Mutation_p.Q405*	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAAACAATTCAGAACATGAG	0.483		NaN											0	0	0	0.009096	0	4	78				
NBR1	4077	broad.mit.edu	37	17	41329983	41329983	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41329983C>G	uc010czd.2	+	3	273	c.133C>G	c.(133-135)CAA>GAA	p.Q45E	NBR1_uc010diz.2_Missense_Mutation_p.Q45E|NBR1_uc010whu.1_Missense_Mutation_p.Q45E|NBR1_uc010whv.1_Missense_Mutation_p.Q45E|NBR1_uc010whw.1_Intron	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	45	OPR.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAATACTATTCAAATAAAATA	0.308		NaN											0	0	0	0.004672	0	3	28				
MPP3	4356	broad.mit.edu	37	17	41907106	41907106	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41907106G>A	uc002iei.3	-	7	523	c.357C>T	c.(355-357)CTC>CTT	p.L119L	MPP3_uc002ieh.2_Silent_p.L144L|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.L119L|MPP3_uc010wik.1_Silent_p.L144L|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	119					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCAGAGGCGGGAGAACGGGGT	0.557		NaN											0	0	0	0.00333	0	23	91				
C17orf53	78995	broad.mit.edu	37	17	42232692	42232692	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42232692C>A	uc002ifi.1	+	8	1871	c.1686C>A	c.(1684-1686)CTC>CTA	p.L562L	C17orf53_uc010czq.1_Silent_p.L561L|C17orf53_uc002ifj.1_Silent_p.L486L|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	562											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATCACTACCTCAACGTGACAC	0.527		NaN											1	0	2.56e-06	0.009096	2.72274e-06	4	103				
ASB16	92591	broad.mit.edu	37	17	42255693	42255693	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42255693C>G	uc002ifl.1	+	5	1381	c.1297C>G	c.(1297-1299)CGG>GGG	p.R433G	ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_Intron	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	433	SOCS box.				intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGCCACCCGGCTGCCACT	0.677		NaN											0	0	0	0.001984	0	6	13				
EFTUD2	9343	broad.mit.edu	37	17	42936546	42936546	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42936546C>G	uc002ihn.2	-	19	2125	c.1864G>C	c.(1864-1866)GAG>CAG	p.E622Q	EFTUD2_uc010wje.1_Missense_Mutation_p.E587Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E612Q	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	622						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCAGACTCCTCCACCTGAAAC	0.502		NaN											0	0	0	0.00308	0	8	73				
TEX14	56155	broad.mit.edu	37	17	56690847	56690847	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:56690847C>G	uc010dcz.1	-	9	1076	c.958G>C	c.(958-960)GAG>CAG	p.E320Q	TEX14_uc002iwr.1_Missense_Mutation_p.E314Q|TEX14_uc002iws.1_Missense_Mutation_p.E314Q|TEX14_uc010dda.1_Missense_Mutation_p.E94Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	320	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGTTTTCTCTAGGTCCTGG	0.498		NaN											0	0	0	0.012213	0	30	57				
TMEM49	81671	broad.mit.edu	37	17	57917167	57917167	+	Silent	SNP	C	C	T	rs111262775	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:57917167C>T	uc002ixu.3	+	12	1389	c.1116C>T	c.(1114-1116)GTC>GTT	p.V372V	TMEM49_uc010wog.1_Silent_p.V180V|TMEM49_uc010woh.1_Silent_p.V316V|TMEM49_uc010woi.1_Silent_p.V275V|TMEM49_uc010woj.1_Silent_p.V238V|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	372	Helical; (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)			AAAAGTTGGTCGTTGTCATGG	0.388		NaN											0	0	0	0.013726	0	32	195				
TLK2	11011	broad.mit.edu	37	17	60683562	60683562	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:60683562C>T	uc010ddp.2	+	21	2265	c.1997C>T	c.(1996-1998)TCG>TTG	p.S666L	TLK2_uc002izx.3_Missense_Mutation_p.S492L|TLK2_uc002izz.3_Missense_Mutation_p.S644L|TLK2_uc002jaa.3_Missense_Mutation_p.S612L|TLK2_uc010wpd.1_Missense_Mutation_p.S612L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	666	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GATGTGTGGTCGGTGGGTGTG	0.398		NaN											0	0	0	0.000602	0	3	36				
STRADA	92335	broad.mit.edu	37	17	61787963	61787963	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61787963C>G	uc002jbm.2	-	8	628	c.469G>C	c.(469-471)GAT>CAT	p.D157H	STRADA_uc002jbn.2_Missense_Mutation_p.D99H|STRADA_uc002jbo.2_Missense_Mutation_p.D120H|STRADA_uc002jbp.2_Missense_Mutation_p.D120H|STRADA_uc002jbq.2_Missense_Mutation_p.D99H|STRADA_uc010wpq.1_Missense_Mutation_p.D113H|STRADA_uc010wpr.1_Missense_Mutation_p.D128H|STRADA_uc010ddw.2_Missense_Mutation_p.D128H|STRADA_uc002jbr.2_Missense_Mutation_p.D99H	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	157	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						CAGATGAGATCTTTTGCAGAA	0.498		NaN											0	0	0	0.001168	0	6	35				
GH1	2688	broad.mit.edu	37	17	61995219	61995219	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61995219G>A	uc002jdj.2	-	4	419	c.357C>T	c.(355-357)CTC>CTT	p.L119L	GH1_uc002jdi.2_Silent_p.L104L|GH1_uc002jdk.2_Silent_p.L79L|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	119					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						AGACACTCCTGAGGAACTGCA	0.607		NaN											0	0	0	0.001855	0	13	80				
CACNG5	27091	broad.mit.edu	37	17	64880683	64880683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:64880683G>A	uc010wqi.1	+	5	712	c.475G>A	c.(475-477)GAG>AAG	p.E159K	CACNG5_uc002jfr.2_Missense_Mutation_p.E159K|CACNG5_uc010wqj.1_Missense_Mutation_p.E159K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CATCAACGATGAGATGCTCAA	0.562		NaN											0	0	0	0.008291	0	10	71				
ABCA8	10351	broad.mit.edu	37	17	66872823	66872823	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:66872823C>T	uc002jhp.2	-	32	4280	c.4101G>A	c.(4099-4101)CTG>CTA	p.L1367L	ABCA8_uc002jhq.2_Silent_p.L1407L|ABCA8_uc010wqq.1_Silent_p.L1402L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1367	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GCTGGTCCTGCAGCTTGAGCG	0.498		NaN											0	0	0	0.00333	0	22	75				
GRIN2C	2905	broad.mit.edu	37	17	72845996	72845996	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72845996G>T	uc002jlt.1	-	7	1724	c.1568C>A	c.(1567-1569)TCT>TAT	p.S523Y	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S523Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	523	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	AAAGGGTACAGAGAAGTCTAC	0.622		NaN											1	0	1.85244e-09	0.00333	1.99458e-09	25	76				
GRIN2C	2905	broad.mit.edu	37	17	72846001	72846001	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72846001G>A	uc002jlt.1	-	7	1719	c.1563C>T	c.(1561-1563)GAC>GAT	p.D521D	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.D521D	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	521	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTACAGAGAAGTCTACGATCT	0.617		NaN											0	0	0	0.00632	0	28	72				
NUP85	79902	broad.mit.edu	37	17	73204673	73204673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:73204673C>G	uc002jng.1	+	2	345	c.85C>G	c.(85-87)CCA>GCA	p.P29A	NUP85_uc010dgd.1_Missense_Mutation_p.P29A|NUP85_uc010wrv.1_Intron	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	29					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGACTGGGGTCCAGGGGAGAT	0.358		NaN											0	0	0	0.001984	0	6	241				
PCYT2	5833	broad.mit.edu	37	17	79864646	79864646	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:79864646G>A	uc002kcf.1	-	7	729	c.666C>T	c.(664-666)TTC>TTT	p.F222F	PCYT2_uc010wva.1_Silent_p.F190F|PCYT2_uc010wvb.1_Silent_p.F190F|PCYT2_uc002kce.1_Silent_p.F144F|PCYT2_uc002kcg.1_Silent_p.F251F|PCYT2_uc002kch.1_Silent_p.F240F|PCYT2_uc002kci.1_Silent_p.F181F|PCYT2_uc010dii.1_Silent_p.F222F|PCYT2_uc010wvc.1_Silent_p.F144F	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	222	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACAGGTCGAAGGCACCAG	0.607		NaN											0	0	0	0.006122	0	16	32				
CD7	924	broad.mit.edu	37	17	80274695	80274695	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:80274695C>T	uc002kel.1	-	2	354	c.245G>A	c.(244-246)AGA>AAA	p.R82K	CD7_uc010din.2_Missense_Mutation_p.R82K|CD7_uc002kem.2_Silent_p.Q63Q|CD7_uc010wvk.1_Missense_Mutation_p.R82K	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	82	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCGGAACCGTCTGTCCGTAGT	0.637		NaN											0	0	0	0.003271	0	37	84				
TWSG1	57045	broad.mit.edu	37	18	9396405	9396405	+	Silent	SNP	C	C	T	rs143807731		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:9396405C>T	uc002knz.2	+	4	542	c.351C>T	c.(349-351)AAC>AAT	p.N117N	TWSG1_uc002koa.2_Silent_p.N42N	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation precursor	117										ovary(1)|pancreas(1)	2						TGAATTGGAACATCGTTTCTT	0.463		NaN											0	0	0	0.004007	0	14	92				
POTEC	388468	broad.mit.edu	37	18	14513681	14513681	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:14513681C>T	uc010dln.2	-	10	1967	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	505	Potential.									skin(3)	3						ATTTTCTTTTCAGCCACTTCT	0.299		NaN											0	0	0	0.003163	0	15	60				
ROCK1	6093	broad.mit.edu	37	18	18629788	18629788	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:18629788C>T	uc002kte.2	-	3	1170	c.229G>A	c.(229-231)GAA>AAA	p.E77K		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	77	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTCACTACTTCATAATCTTCA	0.274		NaN											0	0	0	0.001855	0	11	15				
ASXL3	80816	broad.mit.edu	37	18	31323516	31323516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:31323516C>T	uc010dmg.1	+	12	3759	c.3704C>T	c.(3703-3705)TCT>TTT	p.S1235F	ASXL3_uc002kxq.2_Missense_Mutation_p.S942F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1235	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AATAAAAATTCTGTCCCTGTA	0.373		NaN											0	0	0	0.00308	0	8	128				
NARS	4677	broad.mit.edu	37	18	55270142	55270142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:55270142C>T	uc002lgs.2	-	12	1513	c.1285G>A	c.(1285-1287)GAC>AAC	p.D429N	NARS_uc002lgt.2_Missense_Mutation_p.D428N|NARS_uc010xea.1_Missense_Mutation_p.D180N	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	429					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	TTAATGGTGTCTGTCATCAGT	0.448		NaN											0	0	0	0.001984	0	6	53				
CDH7	1005	broad.mit.edu	37	18	63477229	63477229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:63477229C>T	uc002ljz.2	+	3	825	c.500C>T	c.(499-501)CCC>CTC	p.P167L	CDH7_uc002lka.2_Missense_Mutation_p.P167L|CDH7_uc002lkb.2_Missense_Mutation_p.P167L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	167	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GAAATGTCTCCCGTGGGTAAG	0.398		NaN											0	0	0	0.010818	0	31	46				
TMEM146	257062	broad.mit.edu	37	19	5771022	5771022	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:5771022C>G	uc002mda.2	+	19	1763	c.1702C>G	c.(1702-1704)CAG>GAG	p.Q568E	TMEM146_uc010duj.1_Missense_Mutation_p.Q226E	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	568	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTACTCCTACCAGCAGCTGGG	0.607		NaN											0	0	0	0.013537	0	13	50				
INSR	3643	broad.mit.edu	37	19	7125313	7125313	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:7125313C>G	uc002mgd.1	-	17	3348	c.3239G>C	c.(3238-3240)GGC>GCC	p.G1080A	INSR_uc002mge.1_Missense_Mutation_p.G1068A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1080	Protein kinase.|Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGGTGAAGCCCTTCATGAC	0.607		NaN											0	0	0	0.000602	0	5	43				
ZNF266	10781	broad.mit.edu	37	19	9526415	9526415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:9526415G>T	uc002mll.2	-	3	385	c.119C>A	c.(118-120)TCA>TAA	p.S40*	ZNF266_uc002mlm.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mln.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mlo.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwp.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwq.2_Nonsense_Mutation_p.S40*	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTCCATTCTGAAGCTGAAGA	0.398		NaN											1	0	4.3838e-07	0.001855	4.69693e-07	13	25				
KRI1	65095	broad.mit.edu	37	19	10670041	10670041	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:10670041G>A	uc002moy.1	-	12	1215	c.1206C>T	c.(1204-1206)CTC>CTT	p.L402L	KRI1_uc002mow.1_Silent_p.L21L|KRI1_uc002mox.1_Silent_p.L398L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	402	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCACCTGCATGAGCTGGTCGT	0.488		NaN											0	0	0	0.006214	0	10	34				
HSH2D	84941	broad.mit.edu	37	19	16268238	16268238	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:16268238C>T	uc002ndp.3	+	9	1223	c.692C>T	c.(691-693)TCG>TTG	p.S231L	HSH2D_uc002ndr.2_Silent_p.V174V|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	231						cytoplasm|nucleus					0						GTGAACTTGTCGTCACTCTTG	0.602		NaN											0	0	0	0.00308	0	8	74				
F2RL3	9002	broad.mit.edu	37	19	17000948	17000948	+	Missense_Mutation	SNP	G	G	A	rs147915788		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17000948G>A	uc002nfa.2	+	2	849	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	225	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						CGCTCCGATCGCGTGCTCTGC	0.697		NaN											0	0	0	0.000602	0	4	14				
MRPL34	64981	broad.mit.edu	37	19	17417150	17417150	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17417150C>T	uc002ngc.1	+	2	466	c.241C>T	c.(241-243)CGC>TGC	p.R81C	ABHD8_uc002ngb.3_5'Flank	NM_023937	NP_076426	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34 precursor	81					translation		structural constituent of ribosome				0						GGTCATCCTTCGCCGAATGCT	0.652		NaN											0	0	0	0.004672	0	3	14				
ZNF429	353088	broad.mit.edu	37	19	21719683	21719683	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:21719683G>A	uc002nqd.1	+	4	965	c.828G>A	c.(826-828)AAG>AAA	p.K276K	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	276	C2H2-type 5.			Missing (in Ref. 2; AAP30884 and 3; AAK01422).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTACCCATAAGAGAATTCATT	0.378		NaN											0	0	0	0.009096	0	4	35				
ZNF91	7644	broad.mit.edu	37	19	23545301	23545301	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545301C>G	uc002nre.2	-	4	593	c.480G>C	c.(478-480)TTG>TTC	p.L160F	ZNF91_uc010xrj.1_Missense_Mutation_p.L128F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	160	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGAAGACTTTCAAATATTTCC	0.328		NaN											0	0	0	0.003163	0	15	51				
ZNF91	7644	broad.mit.edu	37	19	23545372	23545372	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545372C>G	uc002nre.2	-	4	522	c.409G>C	c.(409-411)GAA>CAA	p.E137Q	ZNF91_uc010xrj.1_Missense_Mutation_p.E105Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTATAACCTTCTTTGTGCACC	0.299		NaN											0	0	0	0.005443	0	23	60				
ZNF681	148213	broad.mit.edu	37	19	23938261	23938261	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23938261C>G	uc002nrk.3	-	2	238	c.96G>C	c.(94-96)GTG>GTC	p.V32V	ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCTAACATCACATTCCTAT	0.358		NaN											0	0	0	0.007413	0	17	95				
TSHZ3	57616	broad.mit.edu	37	19	31768941	31768941	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:31768941C>T	uc002nsy.3	-	2	1823	c.1758G>A	c.(1756-1758)ACG>ACA	p.T586T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	586					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCTGGTTTTTCGTCGGGGAGA	0.552		NaN											0	0	0	0.012319	0	21	114				
ZNF146	7705	broad.mit.edu	37	19	36727471	36727471	+	Silent	SNP	T	T	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:36727471T>G	uc002odq.3	+	4	1652	c.129T>G	c.(127-129)CCT>CCG	p.P43P	ZNF146_uc010eet.2_Silent_p.P43P|ZNF146_uc010eeu.2_Silent_p.P43P	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	43					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GAGAGAAACCTTTTGAATGTA	0.418		NaN											0	0	0	0.01441	0	130	70				
ZNF420	147923	broad.mit.edu	37	19	37619283	37619283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:37619283C>T	uc002ofl.2	+	5	1605	c.1390C>T	c.(1390-1392)CAA>TAA	p.Q464*		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	464	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTTACTCAACATGAGCG	0.423		NaN											0	0	0	0.009096	0	4	80				
SIPA1L3	23094	broad.mit.edu	37	19	38610501	38610501	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:38610501G>A	uc002ohk.2	+	9	3356	c.2847G>A	c.(2845-2847)AGG>AGA	p.R949R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	949					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGACATAAGGGAGATAGTGC	0.532		NaN											0	0	0	0.00308	0	7	115				
EID2	163126	broad.mit.edu	37	19	40030401	40030401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:40030401C>T	uc002oma.2	-	1	438	c.319G>A	c.(319-321)GAG>AAG	p.E107K		NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	CREBBP/EP300 inhibitor 2	107	Ala-rich.				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGGGCGACCTCCGCCATCCGG	0.418		NaN											0	0	0	0.001168	0	6	90				
ZNF574	64763	broad.mit.edu	37	19	42584035	42584035	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:42584035C>T	uc002osm.3	+	2	1446	c.1277C>T	c.(1276-1278)CCA>CTA	p.P426L	ZNF574_uc002osk.3_Missense_Mutation_p.P516L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACACCAGTCCCACCAGAGGAA	0.587		NaN											0	0	0	0.008291	0	10	168				
ZNF45	7596	broad.mit.edu	37	19	44417605	44417605	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44417605G>C	uc002oxu.1	-	4	2082	c.1983C>G	c.(1981-1983)GTC>GTG	p.V661V	ZNF45_uc002oxw.1_Silent_p.V661V|ZNF45_uc002oxv.1_Silent_p.V661V	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	661	C2H2-type 18.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CATCAGCATGGACTCGCTGAT	0.433		NaN											0	0	0	0.013537	0	10	94				
ZNF45	7596	broad.mit.edu	37	19	44418218	44418218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44418218G>C	uc002oxu.1	-	4	1469	c.1370C>G	c.(1369-1371)TCA>TGA	p.S457*	ZNF45_uc002oxw.1_Nonsense_Mutation_p.S457*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S457*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	457	C2H2-type 11.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CAGAAGATTTGAGGCCTGGCT	0.473		NaN											0	0	0	0.001168	0	5	125				
ZNF223	7766	broad.mit.edu	37	19	44571040	44571040	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44571040C>T	uc002oyf.1	+	5	1312	c.1059C>T	c.(1057-1059)TTC>TTT	p.F353F	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	353	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				GGAAGAGCTTCAGACGGTCCT	0.433		NaN											0	0	0	0.006122	0	17	140				
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:49558229T>C	uc002pmd.2	-	2	417	c.52A>G	c.(52-54)ACA>GCA	p.T18A	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A.		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GATGCCCATGTCCCGCCCATG	0.657		NaN											0	0	0	0.009096	0	3	116				
TNNT1	7138	broad.mit.edu	37	19	55652318	55652318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:55652318C>T	uc002qjb.3	-	9	409	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	TNNT1_uc002qiz.3_Missense_Mutation_p.R37Q|TNNT1_uc002qja.3_Missense_Mutation_p.R37Q|TNNT1_uc002qjc.3_Missense_Mutation_p.R107Q|TNNT1_uc002qje.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjd.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R103Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	107					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTCTCTGACCGGCGCCGCTC	0.602		NaN									OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	36				
ZNF587	84914	broad.mit.edu	37	19	58371385	58371385	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58371385C>T	uc002qql.2	+	3	1743	c.1605C>T	c.(1603-1605)CTC>CTT	p.L535L	ZNF587_uc002qqb.2_Silent_p.L492L|ZNF587_uc010yhh.1_Silent_p.L492L|ZNF587_uc002qqi.1_Silent_p.L492L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L534L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	535	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTTCCAGTCTCATTAAACACA	0.403		NaN											0	0	0	0.00499	0	16	89				
ZNF329	79673	broad.mit.edu	37	19	58640693	58640693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58640693G>C	uc002qrn.2	-	4	415	c.178C>G	c.(178-180)CAG>GAG	p.Q60E	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATTGCTTCCTGAGTCCCTGGT	0.488		NaN											0	0	0	0.004672	0	3	120				
CHMP2A	27243	broad.mit.edu	37	19	59063309	59063309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:59063309C>G	uc002qti.2	-	4	931	c.505G>C	c.(505-507)GAT>CAT	p.D169H	CHMP2A_uc002qtj.2_Missense_Mutation_p.D169H|CHMP2A_uc002qtk.2_Missense_Mutation_p.D169H	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	169	Interaction with VPS4B.			DE->AA: Diminishes interaction with VPS4B.	cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCAGCTCATCCAGAACCTGG	0.577		NaN											0	0	0	0.008871	0	21	44				
ASAP2	8853	broad.mit.edu	37	2	9419502	9419502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:9419502C>G	uc002qzh.2	+	2	523	c.183C>G	c.(181-183)ATC>ATG	p.I61M	ASAP2_uc002qzi.2_Missense_Mutation_p.I61M	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	61					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						TGAAAGCAATCAACAGCTCTG	0.428		NaN											0	0	0	0.005443	0	23	35				
RAD51AP2	729475	broad.mit.edu	37	2	17696923	17696923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:17696923C>G	uc002rcl.1	-	1	2784	c.2760G>C	c.(2758-2760)AAG>AAC	p.K920N	RAD51AP2_uc010exn.1_Missense_Mutation_p.K911N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	920										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGTCATTCTTTCTGTGAA	0.289		NaN											0	0	0	0.006214	0	9	35				
C2orf16	84226	broad.mit.edu	37	2	27801569	27801569	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:27801569G>C	uc002rkz.3	+	1	2181	c.2130G>C	c.(2128-2130)CAG>CAC	p.Q710H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	710										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ACGTGTGTCAGAATAGGGACT	0.418		NaN											0	0	0	0.012319	0	23	48				
SLC30A6	55676	broad.mit.edu	37	2	32396442	32396442	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:32396442G>C	uc002roe.1	+	2	127	c.90G>C	c.(88-90)AGG>AGC	p.R30S	SLC30A6_uc002rof.1_Missense_Mutation_p.R30S|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.R30S|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	30	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGACCGAAGGGTAAGTTATT	0.348		NaN											0	0	0	0.00308	0	7	36				
PLEKHH2	130271	broad.mit.edu	37	2	43937144	43937144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:43937144C>G	uc010yny.1	+	12	2065	c.1982C>G	c.(1981-1983)TCT>TGT	p.S661C	PLEKHH2_uc002rte.3_Missense_Mutation_p.S661C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S660C	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	661	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCTCTCCTCTGTGGCTTCT	0.458		NaN											0	0	0	0.004482	0	8	166				
CHAC2	494143	broad.mit.edu	37	2	54001597	54001597	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:54001597C>G	uc002rxk.1	+	3	585	c.490C>G	c.(490-492)CTT>GTT	p.L164V	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	164											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGAGCATCTTTTCGCTTT	0.348		NaN											0	0	0	0.00308	0	7	49				
C2orf78	388960	broad.mit.edu	37	2	74043855	74043855	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:74043855C>T	uc002sjr.1	+	3	2626	c.2505C>T	c.(2503-2505)CTC>CTT	p.L835L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	835										ovary(2)	2						TGACCAGTCTCCGGTCACTGC	0.502		NaN											0	0	0	0.004007	0	14	79				
TSGA10	80705	broad.mit.edu	37	2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:99721848C>G	uc002szg.3	-	7	1061	c.433G>C	c.(433-435)GAG>CAG	p.E145Q	TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						TCCAGCTCCTCTATCCTTTGT	0.338		NaN											0	0	0	0.004672	0	3	46				
SLC9A4	389015	broad.mit.edu	37	2	103128724	103128724	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:103128724G>C	uc002tbz.3	+	7	2008	c.1551G>C	c.(1549-1551)GTG>GTC	p.V517V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	517	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						ACTACCAAGTGAGAGACAAGT	0.398		NaN											0	0	0	0.010504	0	20	79				
CNTNAP5	129684	broad.mit.edu	37	2	125367461	125367461	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:125367461C>T	uc002tno.2	+	12	2201	c.1837C>T	c.(1837-1839)CCA>TCA	p.P613S	CNTNAP5_uc010flu.2_Missense_Mutation_p.P614S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	613	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCAGCGGCCCACTGGGACC	0.522		NaN											0	0	0	0.000602	0	5	66				
NEB	4703	broad.mit.edu	37	2	152470790	152470790	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:152470790A>G	uc010fnx.2	-	73	11063	c.10872T>C	c.(10870-10872)GAT>GAC	p.D3624D		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3624	Nebulin 99.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCACTCACATCACTCTGCA	0.338		NaN											0	0	0	0.012319	0	19	32				
DHRS9	10170	broad.mit.edu	37	2	169939948	169939948	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:169939948C>T	uc002uep.2	+	6	1927	c.423C>T	c.(421-423)CTC>CTT	p.L141L	DHRS9_uc002ueq.2_Silent_p.L141L|DHRS9_uc010zdc.1_Silent_p.L201L|DHRS9_uc010zdd.1_Silent_p.L141L|DHRS9_uc010zde.1_Silent_p.L141L	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	141					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						TGTTTGGACTCATCAGTGTGA	0.488		NaN											0	0	0	0.008291	0	11	73				
TTN	7273	broad.mit.edu	37	2	179413733	179413733	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179413733C>T	uc010zfg.1	-	288	85140	c.84916G>A	c.(84916-84918)GAG>AAG	p.E28306K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22001K|TTN_uc010zfi.1_Missense_Mutation_p.E21934K|TTN_uc010zfj.1_Missense_Mutation_p.E21809K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29233							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)			ACACATGCCTCTGCATTCACC	0.423		NaN											0	0	0	0.007413	0	18	83				
TTN	7273	broad.mit.edu	37	2	179501355	179501355	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179501355A>G	uc010zfg.1	-	174	33619	c.33395T>C	c.(33394-33396)GTT>GCT	p.V11132A	TTN_uc010zfh.1_Missense_Mutation_p.V4827A|TTN_uc010zfi.1_Missense_Mutation_p.V4760A|TTN_uc010zfj.1_Missense_Mutation_p.V4635A|TTN_uc010fre.1_Missense_Mutation_p.V993A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12059							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)			TGAAGAGCCAACGAACTCTGA	0.463		NaN											0	0	0	0.001168	0	6	63				
STAT1	6772	broad.mit.edu	37	2	191839600	191839600	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:191839600C>G	uc002usj.2	-	24	2582	c.2194G>C	c.(2194-2196)GAC>CAC	p.D732H	STAT1_uc010fse.1_Missense_Mutation_p.D732H	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	732					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GACACCTCGTCAAACTCCTCA	0.493		NaN											0	0	0	0.001984	0	7	40				
SDPR	8436	broad.mit.edu	37	2	192701173	192701173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:192701173C>T	uc002utb.2	-	2	1084	c.754G>A	c.(754-756)GAG>AAG	p.E252K		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	252	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCTTTTTCTCGATGTTCTGG	0.423		NaN											0	0	0	0.01441	0	84	186				
DNAH7	56171	broad.mit.edu	37	2	196671502	196671502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:196671502G>C	uc002utj.3	-	54	10239	c.10138C>G	c.(10138-10140)CAA>GAA	p.Q3380E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3380					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCATCCTTTGAAACTCATTT	0.383		NaN											0	0	0	0.004007	0	17	36				
HECW2	57520	broad.mit.edu	37	2	197138838	197138838	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:197138838C>A	uc002utm.1	-	16	3328	c.3145G>T	c.(3145-3147)GAT>TAT	p.D1049Y	HECW2_uc002utl.1_Missense_Mutation_p.D693Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TGTCGAGAATCTTCTCCTACC	0.438		NaN											1	0	0.000219431	0.00245	0.000230006	14	24				
RFTN2	130132	broad.mit.edu	37	2	198508944	198508944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508944C>A	uc002uuo.3	-	3	778	c.376G>T	c.(376-378)GAG>TAG	p.E126*		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	126						plasma membrane					0						GGACATTCCTCAATCACGAGC	0.433		NaN											1	0	6.40141e-05	0.010729	6.74241e-05	10	39				
RFTN2	130132	broad.mit.edu	37	2	198508990	198508990	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508990C>G	uc002uuo.3	-	3	732	c.330G>C	c.(328-330)AAG>AAC	p.K110N		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	110						plasma membrane					0						CTGCCGAATTCTTTGGGCTGT	0.463		NaN											0	0	0	0.004482	0	9	29				
BMPR2	659	broad.mit.edu	37	2	203420028	203420028	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:203420028C>T	uc002uzf.3	+	12	2788	c.1640C>T	c.(1639-1641)TCT>TTT	p.S547F	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	547	Poly-Ser.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CCAGATTATTCTTCCTCCTCA	0.383		NaN											0	0	0	0.00245	0	15	24				
ADAM23	8745	broad.mit.edu	37	2	207310119	207310119	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207310119C>T	uc002vbq.2	+	2	526	c.303C>T	c.(301-303)ATC>ATT	p.I101I	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	101					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCAGTAATATCAGTTACAGCA	0.413		NaN											0	0	0	0.000602	0	5	92				
ADAM23	8745	broad.mit.edu	37	2	207437917	207437917	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207437917C>G	uc002vbq.2	+	18	1958	c.1735C>G	c.(1735-1737)CAG>GAG	p.Q579E	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	579	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGACTCTGGTCAGGTATGGCG	0.284		NaN											0	0	0	0.00632	0	27	63				
CRYGB	1419	broad.mit.edu	37	2	209007482	209007482	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:209007482C>G	uc002vcp.3	-	3	441	c.408G>C	c.(406-408)GAG>GAC	p.E136D		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	136	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGTTGGGCATCTCATAGAGGA	0.542		NaN											0	0	0	0.004289	0	34	81				
STK16	8576	broad.mit.edu	37	2	220112206	220112206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220112206G>C	uc002vko.2	+	5	667	c.510G>C	c.(508-510)ATG>ATC	p.M170I	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.M52I|STK16_uc010zky.1_Missense_Mutation_p.M170I|STK16_uc010fwf.2_Missense_Mutation_p.M170I|STK16_uc002vkp.2_Missense_Mutation_p.M170I|STK16_uc002vkr.2_Missense_Mutation_p.M103I|STK16_uc002vkq.2_Missense_Mutation_p.M215I	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	170	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGTTCCATGAATCAAGCAT	0.507		NaN											0	0	0	0.008361	0	29	143				
INHA	3623	broad.mit.edu	37	2	220437228	220437228	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220437228C>T	uc002vmk.1	+	1	276	c.132C>T	c.(130-132)CCC>CCT	p.P44P	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	44					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCCCCCCGCGGTGACCA	0.687		NaN									OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.001984	0	7	10				
WDR69	164781	broad.mit.edu	37	2	228771965	228771965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:228771965G>C	uc002vpn.1	+	10	1049	c.970G>C	c.(970-972)GAT>CAT	p.D324H	WDR69_uc010zlw.1_Missense_Mutation_p.D309H|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	324	WD 6.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCTTCAGCTGATGGTAGGTG	0.373		NaN											0	0	0	0.000602	0	5	21				
SP100	6672	broad.mit.edu	37	2	231406036	231406036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231406036G>C	uc002vqu.1	+	27	2493	c.2352G>C	c.(2350-2352)TTG>TTC	p.L784F	SP100_uc010fxp.1_Missense_Mutation_p.L102F	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	Error:Variant_position_missing_in_P23497_after_alignment					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCTCCTCTTGAAGGTCTACT	0.388		NaN											0	0	0	0.008291	0	8	45				
CAB39	51719	broad.mit.edu	37	2	231683405	231683405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231683405C>T	uc002vqx.2	+	9	1444	c.1012C>T	c.(1012-1014)CAG>TAG	p.Q338*	CAB39_uc010fxr.2_Nonsense_Mutation_p.Q338*|CAB39_uc010fxq.2_Nonsense_Mutation_p.Q338*|CAB39_uc002vqy.2_Nonsense_Mutation_p.Q93*	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	338					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GAGACCAGCTCAGCAAGAAGC	0.403		NaN											0	0	0	0.004482	0	8	12				
UGT1A3	54659	broad.mit.edu	37	2	234637776	234637776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:234637776G>A	uc002vuy.2	+	1	4	c.4G>A	c.(4-6)GCC>ACC	p.A2T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.A2T	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	2					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCTGAGATGGCCACAGGACT	0.572		NaN									OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	3	72				
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:237103689C>T	uc010znh.1	-	6	1227	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	409	SOCS box.				intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542		NaN											0	0	0	0.001984	0	7	24				
COL6A3	1293	broad.mit.edu	37	2	238262009	238262009	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:238262009C>G	uc002vwl.2	-	25	6950	c.6665G>C	c.(6664-6666)GGA>GCA	p.G2222A	COL6A3_uc002vwo.2_Missense_Mutation_p.G2016A|COL6A3_uc010znj.1_Missense_Mutation_p.G1615A|COL6A3_uc002vwp.1_Missense_Mutation_p.G43A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2222	Triple-helical region.|Collagen-like 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTGCTCTCCCTCAAAGCC	0.478		NaN											0	0	0	0.013537	0	10	44				
KIF1A	547	broad.mit.edu	37	2	241706751	241706751	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:241706751G>C	uc002vzy.2	-	17	1628	c.1482C>G	c.(1480-1482)CTC>CTG	p.L494L	KIF1A_uc010fzk.2_Silent_p.L503L|KIF1A_uc002vzz.1_Silent_p.L503L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	494					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGGTTGACGAGGTGTGGTG	0.607		NaN											0	0	0	0.009096	0	3	19				
C20orf12	55184	broad.mit.edu	37	20	18374906	18374906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:18374906G>C	uc010zsa.1	-	16	1966	c.1757C>G	c.(1756-1758)TCC>TGC	p.S586C	C20orf12_uc010zrz.1_Missense_Mutation_p.S105C|C20orf12_uc002wqp.3_Missense_Mutation_p.S277C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S453C|C20orf12_uc002wqq.3_Missense_Mutation_p.S567C	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	394						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				ACCCCAGCTGGACCTGCTGCC	0.512		NaN											0	0	0	0.008291	0	10	17				
SLC32A1	140679	broad.mit.edu	37	20	37357240	37357240	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:37357240C>G	uc002xjc.2	+	2	1799	c.1536C>G	c.(1534-1536)CTC>CTG	p.L512L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	512	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCACTCCCTCGAGGGCCTCA	0.667		NaN											0	0	0	0.004672	0	3	29				
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:49574949C>G	uc002xvw.1	-	1	112	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	38					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						GGCAGGTTCTCGCGCTCGTTG	0.582		NaN											0	0	0	0.004007	0	16	25				
RBM11	54033	broad.mit.edu	37	21	15588577	15588577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:15588577G>A	uc002yjo.3	+	1	112	c.70G>A	c.(70-72)GAG>AAG	p.E24K	RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_5'UTR	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	24	RRM.						nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTTCGGGAAGAGATTCTGTA	0.612		NaN											0	0	0	0.004672	0	3	24				
TRPM2	7226	broad.mit.edu	37	21	45817728	45817728	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45817728G>A	uc002zet.1	+	14	2244	c.2031G>A	c.(2029-2031)GCG>GCA	p.A677A	TRPM2_uc002zeu.1_Silent_p.A677A|TRPM2_uc002zew.1_Silent_p.A677A|TRPM2_uc010gpt.1_Silent_p.A677A|TRPM2_uc002zex.1_Silent_p.A463A|TRPM2_uc002zey.1_Silent_p.A190A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	677	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGATGCTGGCGCTGGCGGAGG	0.642		NaN											0	0	0	0.006214	0	10	20				
LRRC3	81543	broad.mit.edu	37	21	45876666	45876666	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45876666G>A	uc002zfa.2	+	2	432	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	47	LRRNT.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		AGGGGCTGTGGCTGTCTTCTG	0.667		NaN											0	0	0	0.001984	0	7	34				
CYTSA	23384	broad.mit.edu	37	22	24759250	24759250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:24759250C>A	uc002zzw.2	+	12	3072	c.2765C>A	c.(2764-2766)TCA>TAA	p.S922*	CYTSA_uc002zzv.3_Nonsense_Mutation_p.S922*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S922*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	922					cell cycle|cell division						0						AGAACATCTTCAGCCAGCCGG	0.403		NaN											1	0	1.5739e-10	0.004007	1.69887e-10	16	16				
RFPL1	5988	broad.mit.edu	37	22	29834919	29834919	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29834919C>G	uc003afn.2	+	1	348	c.139C>G	c.(139-141)CTA>GTA	p.L47V	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	47	RING-type.						zinc ion binding				0						CTCAGACTATCTAGAGAAACC	0.517		NaN											0	0	0	0.001855	0	14	74				
RFPL1	5988	broad.mit.edu	37	22	29835036	29835036	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29835036C>G	uc003afn.2	+	1	465	c.256C>G	c.(256-258)CAG>GAG	p.Q86E	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	86							zinc ion binding				0						CATGGTCTCTCAGAAGAACAA	0.522		NaN											0	0	0	0.010729	0	9	111				
OSBP2	23762	broad.mit.edu	37	22	31289134	31289134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:31289134C>T	uc003aiy.1	+	9	1999	c.1895C>T	c.(1894-1896)GCG>GTG	p.A632V	OSBP2_uc011ala.1_Missense_Mutation_p.A466V|OSBP2_uc010gwc.1_Missense_Mutation_p.A459V|OSBP2_uc011alb.1_Missense_Mutation_p.A583V|OSBP2_uc003aiz.1_Missense_Mutation_p.A631V|OSBP2_uc003aja.1_Missense_Mutation_p.A265V|OSBP2_uc011alc.1_Missense_Mutation_p.A374V|OSBP2_uc003ajb.2_Missense_Mutation_p.A177V|OSBP2_uc011ald.1_Missense_Mutation_p.A176V|OSBP2_uc010gwd.1_Missense_Mutation_p.A177V	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	632					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCCTCAGCTGCGCACTACGTG	0.592		NaN											0	0	0	0.000602	0	5	27				
GGA1	26088	broad.mit.edu	37	22	38021890	38021890	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:38021890G>A	uc003atc.2	+	11	1392	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.E343K|GGA1_uc003atf.2_Missense_Mutation_p.E270K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	343	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CCGCCCTGGCGAGCAGGCCAG	0.687		NaN											0	0	0	0.013537	0	12	43				
CELSR1	9620	broad.mit.edu	37	22	46929664	46929664	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:46929664G>C	uc003bhw.1	-	1	3404	c.3404C>G	c.(3403-3405)TCA>TGA	p.S1135*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1135	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGCTGTCTGACACGTCGGG	0.617		NaN											0	0	0	0.001984	0	6	75				
C3orf24	115795	broad.mit.edu	37	3	10146259	10146259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:10146259C>T	uc003buz.2	-	2	425	c.200G>A	c.(199-201)GGA>GAA	p.G67E	C3orf24_uc003bva.1_Missense_Mutation_p.G67E	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	67											0				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GGGACTCACTCCAGATTCCAG	0.557		NaN											0	0	0	0.001855	0	14	49				
ANKRD28	23243	broad.mit.edu	37	3	15726759	15726759	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:15726759G>A	uc003caj.1	-	21	2416	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M	ANKRD28_uc003cai.1_Missense_Mutation_p.T604M|ANKRD28_uc011avz.1_Missense_Mutation_p.T604M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T788M|ANKRD28_uc003cam.2_Missense_Mutation_p.T791M	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	758	ANK 22.					nucleoplasm	protein binding			breast(1)	1						GTGAAGTGCCGTATATCCATG	0.423		NaN											0	0	0	0.009096	0	4	162				
TRANK1	9881	broad.mit.edu	37	3	36874249	36874249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:36874249C>G	uc003cgj.2	-	12	5345	c.5043G>C	c.(5041-5043)AAG>AAC	p.K1681N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2231					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GATGGAAATGCTTAGGGAAAA	0.378		NaN											0	0	0	0.012213	0	32	57				
SETD2	29072	broad.mit.edu	37	3	47162371	47162371	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47162371G>A	uc003cqs.2	-	3	3808	c.3755C>T	c.(3754-3756)TCA>TTA	p.S1252L	SETD2_uc003cqv.2_Missense_Mutation_p.S1241L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGCTCTTCTGATGAGTGCAA	0.453		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.008291	0	11	86		Valid		
PTPN23	25930	broad.mit.edu	37	3	47447452	47447452	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47447452C>T	uc003crf.1	+	6	558	c.462C>T	c.(460-462)TTC>TTT	p.F154F	PTPN23_uc011baw.1_Silent_p.F119F|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.F24F	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	154	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGGCGCCTTCGCCTACCTAC	0.612		NaN											0	0	0	0.001984	0	7	22				
CELSR3	1951	broad.mit.edu	37	3	48698212	48698212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:48698212C>T	uc003cul.2	-	1	2137	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	CELSR3_uc003cuf.1_Missense_Mutation_p.R689H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	619	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCTGATGCGCAAGGCATA	0.587		NaN											0	0	0	0.001168	0	6	25				
STAB1	23166	broad.mit.edu	37	3	52554987	52554987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:52554987C>A	uc003dej.2	+	55	5948	c.5874C>A	c.(5872-5874)AGC>AGA	p.S1958R	STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1958	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGAAGCCCAGCTGCTGCCCTG	0.617		NaN											1	0	3.07112e-06	0.010729	3.25838e-06	12	17				
MYH15	22989	broad.mit.edu	37	3	108179195	108179195	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:108179195C>G	uc003dxa.1	-	18	2001	c.1944G>C	c.(1942-1944)AAG>AAC	p.K648N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	648	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCTTTCGTTTCTTCTCCCCAA	0.269		NaN											0	0	0	0.004672	0	3	15				
POLQ	10721	broad.mit.edu	37	3	121208086	121208086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:121208086G>C	uc003eee.3	-	16	3821	c.3692C>G	c.(3691-3693)TCA>TGA	p.S1231*	POLQ_uc003eed.2_Nonsense_Mutation_p.S403*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1231					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AGTAACATTTGAGTCTCTATT	0.333		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.012213	0	33	134				
KALRN	8997	broad.mit.edu	37	3	124066028	124066028	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124066028C>A	uc003ehg.2	+	10	1807	c.1680C>A	c.(1678-1680)CTC>CTA	p.L560L	KALRN_uc010hrv.1_Silent_p.L560L|KALRN_uc003ehf.1_Silent_p.L560L|KALRN_uc011bjy.1_Silent_p.L560L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	560	Spectrin 3.				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						AGGCCTTTCTCAGCAAACACA	0.478		NaN											1	0	6.2361e-21	0.007835	6.81584e-21	36	141				
KALRN	8997	broad.mit.edu	37	3	124174160	124174160	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124174160G>C	uc003ehg.2	+	22	3810	c.3683G>C	c.(3682-3684)GGA>GCA	p.G1228A	KALRN_uc010hrv.1_Missense_Mutation_p.G1219A|KALRN_uc003ehf.1_Missense_Mutation_p.G1228A|KALRN_uc011bjy.1_Missense_Mutation_p.G1219A|KALRN_uc003ehh.1_Missense_Mutation_p.G574A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1228					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						CTGAGGATGGGAAAGTACCGA	0.522		NaN											0	0	0	0.013537	0	12	79				
PPP2R3A	5523	broad.mit.edu	37	3	135721778	135721778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:135721778C>G	uc003eqv.1	+	2	2003	c.1438C>G	c.(1438-1440)CTA>GTA	p.L480V	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	480					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ATTTGTTAATCTACCTAAGGA	0.338		NaN											0	0	0	0.008291	0	11	58				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.003163	0	16	67		Valid		
FXR1	8087	broad.mit.edu	37	3	180693957	180693957	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:180693957C>T	uc003fkq.2	+	17	1765	c.1743C>T	c.(1741-1743)AAC>AAT	p.N581N	FXR1_uc003fkp.2_Silent_p.N496N|FXR1_uc003fkr.2_3'UTR|FXR1_uc011bqj.1_3'UTR|FXR1_uc003fks.2_Silent_p.N524N|FXR1_uc011bqk.1_3'UTR|FXR1_uc011bql.1_Silent_p.N568N	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	581					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGGCAATAAACGGCCCAACTA	0.393		NaN											0	0	0	0.00499	0	18	44				
MAP3K13	9175	broad.mit.edu	37	3	185191526	185191526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:185191526C>T	uc010hyf.2	+	12	2673	c.2407C>T	c.(2407-2409)CGA>TGA	p.R803*	MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493*	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	803					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCGCTACCTCGAAAAACAAG	0.507		NaN											0	0	0	0.001855	0	11	213				
PPP2R2C	5522	broad.mit.edu	37	4	6335373	6335373	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:6335373G>A	uc003gjc.2	-	7	1246	c.876C>T	c.(874-876)AGC>AGT	p.S292S	PPP2R2C_uc003gjb.2_Silent_p.S275S|PPP2R2C_uc011bwd.1_Silent_p.S285S|PPP2R2C_uc011bwe.1_Silent_p.S285S|PPP2R2C_uc003gja.2_Silent_p.S292S|PPP2R2C_uc003gjd.1_Silent_p.S380S	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	292	WD 5.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGTAGCGGCCGCTGTGGCTGA	0.562		NaN									OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	19	82				
PGM2	55276	broad.mit.edu	37	4	37848724	37848724	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:37848724C>T	uc011byb.1	+	9	1253	c.1180C>T	c.(1180-1182)CAT>TAT	p.H394Y	PGM2_uc011bya.1_Missense_Mutation_p.H255Y|PGM2_uc011byc.1_Missense_Mutation_p.H234Y	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	394					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						GGAAGGTTTTCATTTTGAGGT	0.448		NaN											0	0	0	0.007291	0	28	79				
TBC1D1	23216	broad.mit.edu	37	4	38022296	38022296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:38022296C>T	uc003gtb.2	+	5	1400	c.1057C>T	c.(1057-1059)CAG>TAG	p.Q353*	TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q353*|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q224*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	353	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						TTACGTGTTTCAGTGCACAAA	0.478		NaN											0	0	0	0.003755	0	36	130				
KLB	152831	broad.mit.edu	37	4	39448977	39448977	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:39448977G>C	uc003gua.2	+	4	2728	c.2631G>C	c.(2629-2631)CGG>CGC	p.R877R	KLB_uc011byj.1_Silent_p.R868R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	877	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GGTGGGTCCGGAGGAACTACG	0.622		NaN											0	0	0	0.008871	0	20	73				
GUF1	60558	broad.mit.edu	37	4	44680684	44680684	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:44680684C>T	uc003gww.3	+	1	252	c.45C>T	c.(43-45)CTC>CTT	p.L15L	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	15					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						CACGCGCTCTCGCGCCACGAG	0.736		NaN											0	0	0	0.004672	0	3	9				
SCFD2	152579	broad.mit.edu	37	4	53751964	53751964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:53751964C>T	uc003gzu.2	-	8	2046	c.1912G>A	c.(1912-1914)GAA>AAA	p.E638K	SCFD2_uc010igm.2_Missense_Mutation_p.E593K	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	638					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATTTTCACTTCAGAGACTGTG	0.498		NaN											0	0	0	0.003163	0	15	42				
SMR3A	26952	broad.mit.edu	37	4	71232491	71232491	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:71232491G>C	uc003hfg.1	+	3	266	c.185G>C	c.(184-186)AGA>ACA	p.R62T	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	62	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				GGTCCAGGGAGATTTCCACCA	0.547		NaN											0	0	0	0.000602	0	5	97				
ADAMTS3	9508	broad.mit.edu	37	4	73169687	73169687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:73169687C>T	uc003hgk.1	-	17	2408	c.2371G>A	c.(2371-2373)GAC>AAC	p.D791N	ADAMTS3_uc003hgl.2_Missense_Mutation_p.D132N	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	791	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTCAATGTCATCTTCAATG	0.423		NaN											0	0	0	0.008871	0	21	97				
C4orf22	255119	broad.mit.edu	37	4	81283911	81283911	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:81283911G>A	uc003hmf.2	+	2	164	c.115G>A	c.(115-117)GAA>AAA	p.E39K	C4orf22_uc010ijp.2_Missense_Mutation_p.E39K	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	39										skin(2)	2						TCTCTAGGATGAAACCCTGGC	0.433		NaN											0	0	0	0.004656	0	24	110				
ANK2	287	broad.mit.edu	37	4	114275389	114275389	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:114275389C>T	uc003ibe.3	+	38	5715	c.5615C>T	c.(5614-5616)TCG>TTG	p.S1872L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1887L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1839	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGTCATCATCGAGTAAAACT	0.453		NaN											0	0	0	0.003271	0	34	107				
GUCY1A3	2982	broad.mit.edu	37	4	156634390	156634390	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:156634390G>A	uc003iov.2	+	8	1763	c.1227G>A	c.(1225-1227)CTG>CTA	p.L409L	GUCY1A3_uc010iqc.2_Silent_p.L409L|GUCY1A3_uc003iow.2_Silent_p.L409L|GUCY1A3_uc010iqd.2_Silent_p.L408L|GUCY1A3_uc003iox.2_Silent_p.L409L|GUCY1A3_uc003ioz.2_Silent_p.L174L|GUCY1A3_uc003ioy.2_Silent_p.L409L|GUCY1A3_uc010iqe.2_Silent_p.L174L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.L409L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	409					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAATGCACTGAGGGATGTGG	0.522		NaN											0	0	0	0.010729	0	12	29				
ADCY2	108	broad.mit.edu	37	5	7743786	7743786	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:7743786C>T	uc003jdz.1	+	15	1944	c.1877C>T	c.(1876-1878)TCC>TTC	p.S626F	ADCY2_uc011cmo.1_Missense_Mutation_p.S446F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	626					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGTAGAACGTCCGTCCTGGGC	0.493		NaN											0	0	0	0.013114	0	42	194				
PRDM9	56979	broad.mit.edu	37	5	23521274	23521274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:23521274C>G	uc003jgo.2	+	6	676	c.494C>G	c.(493-495)TCA>TGA	p.S165*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	165					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGACAGCACTCAAGACTAAAA	0.453		NaN								HNSCC(3;0.000094)			0	0	0	0.001855	0	14	69				
ANKRA2	57763	broad.mit.edu	37	5	72856967	72856967	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:72856967G>C	uc003kcu.1	-	3	1082	c.436C>G	c.(436-438)CTG>GTG	p.L146V	ANKRA2_uc003kcv.2_Missense_Mutation_p.L146V	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	146						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTTGCTAACAGAGGTGTGGTA	0.343		NaN											0	0	0	0.00245	0	11	34				
RASGRF2	5924	broad.mit.edu	37	5	80369170	80369170	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:80369170C>T	uc003kha.1	+	5	786	c.786C>T	c.(784-786)CTC>CTT	p.L262L	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.L90L	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	262	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCACCAGCTCTACATCCTGG	0.512		NaN											0	0	0	0.008291	0	9	43				
MCC	4163	broad.mit.edu	37	5	112363128	112363128	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:112363128C>T	uc003kqj.3	-	17	2891	c.2361G>A	c.(2359-2361)CTG>CTA	p.L787L	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.L977L	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	787					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAACTTCTTCAGTTTGTTTT	0.448		NaN											0	0	0	0.001984	0	6	82				
ISOC1	51015	broad.mit.edu	37	5	128440990	128440990	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:128440990C>T	uc003kva.2	+	3	560	c.542C>T	c.(541-543)CCA>CTA	p.P181L		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	181						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CTGGTACTTCCAAAGACCAAG	0.398		NaN											0	0	0	0.004482	0	9	25				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876702	139876702	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:139876702C>G	uc003lfs.1	+	15	2967	c.2843C>G	c.(2842-2844)TCT>TGT	p.S948C	ANKHD1_uc003lfq.1_Missense_Mutation_p.S967C|ANKHD1_uc003lfr.2_Missense_Mutation_p.S948C|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.S428C|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	948						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAAATTCTCTTGAACTT	0.428		NaN											0	0	0	0.009096	0	4	84				
PCDHGC4	56098	broad.mit.edu	37	5	140865104	140865104	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:140865104G>C	uc003lky.1	+	1	364	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E122Q	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	122	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGGTAGAGATCGTAGA	0.582		NaN											0	0	0	0.00308	0	5	83				
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:141336615C>T	uc003llx.2	-	1	2013	c.802G>A	c.(802-804)GCC>ACC	p.A268T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	268	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527		NaN											0	0	0	0.004656	0	25	35				
TCOF1	6949	broad.mit.edu	37	5	149758896	149758896	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:149758896G>A	uc003lry.2	+	16	2691	c.2583G>A	c.(2581-2583)CAG>CAA	p.Q861Q	TCOF1_uc003lrw.2_Silent_p.Q861Q|TCOF1_uc011dch.1_Silent_p.Q861Q|TCOF1_uc003lrz.2_Silent_p.Q861Q|TCOF1_uc003lrx.2_Silent_p.Q784Q|TCOF1_uc003lsa.2_Silent_p.Q784Q|TCOF1_uc011dci.1_Intron	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	861					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCCCAGACAGGGCCAG	0.627		NaN											0	0	0	0.00278	0	25	37				
FAT2	2196	broad.mit.edu	37	5	150925577	150925577	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:150925577G>C	uc003lue.3	-	9	5124	c.5111C>G	c.(5110-5112)TCT>TGT	p.S1704C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1704	Cadherin 15.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTCATAGAGAAGACTCC	0.448		NaN											0	0	0	0.003755	0	36	47				
ODZ2	57451	broad.mit.edu	37	5	167626878	167626878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167626878G>A	uc010jjd.2	+	17	3145	c.3145G>A	c.(3145-3147)GAA>AAA	p.E1049K	ODZ2_uc003lzr.3_Missense_Mutation_p.E826K|ODZ2_uc003lzt.3_Missense_Mutation_p.E422K|ODZ2_uc010jje.2_Missense_Mutation_p.E320K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGTTCTTCATGAAGAAATCGA	0.488		NaN											0	0	0	0.01441	0	79	118				
ODZ2	57451	broad.mit.edu	37	5	167673915	167673915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167673915G>A	uc010jjd.2	+	27	5944	c.5944G>A	c.(5944-5946)GAA>AAA	p.E1982K	ODZ2_uc003lzr.3_Missense_Mutation_p.E1752K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1355K|ODZ2_uc010jje.2_Missense_Mutation_p.E1246K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAACCCGCCTGAAAGCAATGC	0.557		NaN											0	0	0	0.008871	0	21	82				
FAF2	23197	broad.mit.edu	37	5	175921066	175921066	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:175921066G>T	uc003mej.3	+	6	603	c.550G>T	c.(550-552)GAC>TAC	p.D184Y		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	184					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TGATCACCAGGACTCTGATGA	0.398		NaN											1	0	7.26314e-15	0.007291	7.89867e-15	28	62				
DSP	1832	broad.mit.edu	37	6	7578018	7578018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7578018G>C	uc003mxp.1	+	21	3163	c.2884G>C	c.(2884-2886)GAG>CAG	p.E962Q	DSP_uc003mxq.1_Missense_Mutation_p.E962Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	962	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGATTATGAGCTCCAGCT	0.438		NaN											0	0	0	0.000602	0	5	93				
SNRNP48	154007	broad.mit.edu	37	6	7602962	7602962	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7602962G>C	uc003mxr.2	+	6	761	c.702G>C	c.(700-702)AAG>AAC	p.K234N	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	234					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						ACATAACCAAGAAATCATATA	0.338		NaN											0	0	0	0.006214	0	9	27				
PHACTR1	221692	broad.mit.edu	37	6	13182823	13182823	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182823C>T	uc010jpc.2	+	7	901	c.569C>T	c.(568-570)TCT>TTT	p.S190F	PHACTR1_uc011dir.1_Missense_Mutation_p.S190F|PHACTR1_uc003nag.1_Missense_Mutation_p.S190F|PHACTR1_uc003nah.1_Missense_Mutation_p.S190F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	190						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGCCAGCTGTCTCTGCCTGCC	0.537		NaN											0	0	0	0.009096	0	4	234				
PHACTR1	221692	broad.mit.edu	37	6	13182825	13182825	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182825C>T	uc010jpc.2	+	7	903	c.571C>T	c.(571-573)CTG>TTG	p.L191L	PHACTR1_uc011dir.1_Silent_p.L191L|PHACTR1_uc003nag.1_Silent_p.L191L|PHACTR1_uc003nah.1_Silent_p.L191L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	191						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCAGCTGTCTCTGCCTGCCCT	0.542		NaN											0	0	0	0.009096	0	4	228				
MBOAT1	154141	broad.mit.edu	37	6	20126922	20126922	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:20126922G>A	uc003ncx.1	-	7	745	c.540C>T	c.(538-540)CCC>CCT	p.P180P	MBOAT1_uc011dji.1_Silent_p.P31P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	180	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCAAAAAAGAGGGTTTCACTC	0.338		NaN									OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	209				
HIST1H1E	3008	broad.mit.edu	37	6	26156619	26156619	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26156619A>T	uc003ngq.2	+	1	61	c.1A>T	c.(1-3)ATG>TTG	p.M1L	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	1					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						TGCCTTCAACATGTCCGAGAC	0.672		NaN											0	0	0	0.001168	0	5	197				
BTN3A1	11119	broad.mit.edu	37	6	26407948	26407948	+	Silent	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26407948G>T	uc003nhv.2	+	4	851	c.483G>T	c.(481-483)GGG>GGT	p.G161G	BTN3A1_uc011dkj.1_Silent_p.G161G|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Silent_p.G161G	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	161	Ig-like V-type 2.|Extracellular (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGGATGGAGGGATCCATCTGG	0.488		NaN											1	0	1.12685e-05	0.004482	1.18976e-05	9	118				
C6orf15	29113	broad.mit.edu	37	6	31079483	31079483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:31079483C>T	uc003nsk.1	-	2	653	c.653G>A	c.(652-654)TGG>TAG	p.W218*		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	218											0						TCCACCTCCCCAGGACACACT	0.612		NaN											0	0	0	0.004482	0	8	98				
UHRF1BP1	54887	broad.mit.edu	37	6	34802629	34802629	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:34802629C>G	uc003oju.3	+	6	894	c.660C>G	c.(658-660)CTC>CTG	p.L220L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	220										ovary(3)	3						AAATAGCCCTCAAAAGAAGAG	0.438		NaN											0	0	0	0.009096	0	3	73				
DNAH8	1769	broad.mit.edu	37	6	38783350	38783350	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:38783350G>A	uc003ooe.1	+	24	3389	c.2789G>A	c.(2788-2790)CGT>CAT	p.R930H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAGCAAATCCGTCCCATCAAG	0.463		NaN											0	0	0	0.000602	0	5	32				
GUCA1A	2978	broad.mit.edu	37	6	42146056	42146056	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:42146056C>A	uc003orx.2	+	4	885	c.240C>A	c.(238-240)CTC>CTA	p.L80L	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.L80L	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	80	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCAGCGCTCAGCTTGGTCC	0.622		NaN											1	0	2.12542e-12	0.00632	2.30563e-12	28	111				
GPR110	266977	broad.mit.edu	37	6	46977428	46977428	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977428G>C	uc003oyt.2	-	11	1942	c.1743C>G	c.(1741-1743)ATC>ATG	p.I581M	GPR110_uc011dwl.1_Missense_Mutation_p.I269M	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	581	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						CAACGGGGAAGATTGTAGAGG	0.438		NaN											0	0	0	0.013537	0	13	54				
GPR110	266977	broad.mit.edu	37	6	46977848	46977848	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977848G>A	uc003oyt.2	-	11	1522	c.1323C>T	c.(1321-1323)CTC>CTT	p.L441L	GPR110_uc011dwl.1_Silent_p.L129L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	441	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						AACCCCTTTTGAGTTGGCTTT	0.438		NaN											0	0	0	0.008291	0	10	70				
PHF3	23469	broad.mit.edu	37	6	64421841	64421841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:64421841C>T	uc003pep.1	+	15	4383	c.4357C>T	c.(4357-4359)CAA>TAA	p.Q1453*	PHF3_uc003pen.2_Nonsense_Mutation_p.Q1365*|PHF3_uc011dxs.1_Nonsense_Mutation_p.Q722*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1453					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTGGGAGAATCAACCTACTAC	0.448		NaN											0	0	0	0.00499	0	17	53				
IBTK	25998	broad.mit.edu	37	6	82891624	82891624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:82891624C>G	uc003pjl.1	-	26	4224	c.3697G>C	c.(3697-3699)GAA>CAA	p.E1233Q	IBTK_uc011dyu.1_Missense_Mutation_p.E184Q|IBTK_uc011dyv.1_Missense_Mutation_p.E1218Q|IBTK_uc011dyw.1_Missense_Mutation_p.E1032Q|IBTK_uc010kbi.1_Missense_Mutation_p.E927Q	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1233					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAGAATTTTCAATTCCTTTA	0.308		NaN											0	0	0	0.004672	0	3	27				
KIAA1009	22832	broad.mit.edu	37	6	84925148	84925148	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:84925148C>T	uc010kbp.2	-	5	452	c.355G>A	c.(355-357)GGA>AGA	p.G119R	KIAA1009_uc003pkj.3_Missense_Mutation_p.G43R|KIAA1009_uc003pkk.2_Missense_Mutation_p.G119R	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	119					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AATCCCACTCCGAGACTACTA	0.333		NaN											0	0	0	0.001984	0	5	18				
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:88299660G>A	uc003pme.2	-	1	76	c.16C>T	c.(16-18)CGC>TGC	p.R6C	ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672		NaN									OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.004007	0	15	33				
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:112476811C>T	uc003pvu.2	-	15	2224	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	639	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388		NaN											0	0	0	0.010729	0	10	61				
C6orf174	387104	broad.mit.edu	37	6	127836879	127836879	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:127836879G>C	uc003qbd.2	-	2	1746	c.881C>G	c.(880-882)TCT>TGT	p.S294C		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	294						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGGGGGGCCAGACACCGGGGA	0.741		NaN											0	0	0	0.009096	0	4	23				
MED23	9439	broad.mit.edu	37	6	131927625	131927625	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:131927625T>C	uc003qcs.1	-	13	1535	c.1361A>G	c.(1360-1362)CAC>CGC	p.H454R	MED23_uc003qcq.2_Missense_Mutation_p.H460R|MED23_uc011eca.1_Missense_Mutation_p.H95R|MED23_uc003qct.1_Missense_Mutation_p.H460R|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	454					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTACTCATGGTGAAGTCTTAG	0.348		NaN											0	0	0	0.008291	0	8	36				
CNKSR3	154043	broad.mit.edu	37	6	154754641	154754641	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:154754641C>G	uc003qpy.2	-	5	1013	c.508G>C	c.(508-510)GAT>CAT	p.D170H		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	170	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACAAAGCAATCCTAAAGAAGG	0.368		NaN											0	0	0	0.004672	0	3	7				
MAD1L1	8379	broad.mit.edu	37	7	2269702	2269702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:2269702G>A	uc003slh.1	-	3	333	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.Q23*	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	23					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCACACGCTGAGAGATGAAG	0.532		NaN											0	0	0	0.001168	0	6	12				
AIMP2	7965	broad.mit.edu	37	7	6054965	6054965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:6054965G>C	uc003spo.2	+	2	437	c.324G>C	c.(322-324)TTG>TTC	p.L108F		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	108	Interaction with PARK2.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CGCTGGACTTGAATTCAGTGC	0.458		NaN											0	0	0	0.008291	0	11	48				
DNAH11	8701	broad.mit.edu	37	7	21603941	21603941	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:21603941C>G	uc003svc.2	+	6	1151	c.1120C>G	c.(1120-1122)CAT>GAT	p.H374D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	374	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATCTGGAGTCATTCCAAGTT	0.413		NaN							Kartagener_syndrome				0	0	0	0.001984	0	7	41				
GLI3	2737	broad.mit.edu	37	7	42187951	42187951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:42187951C>T	uc011kbh.1	-	3	332	c.241G>A	c.(241-243)GAG>AAG	p.E81K	GLI3_uc011kbg.1_Missense_Mutation_p.E22K	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	81					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GAGGCCCTCTCGTCACTCGAT	0.552		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.001168	0	6	36				
PKD1L1	168507	broad.mit.edu	37	7	47876633	47876633	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:47876633G>A	uc003tny.1	-	37	5829	c.5829C>T	c.(5827-5829)TAC>TAT	p.Y1943Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1943	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGGGCCTGCTGTACACCGACA	0.577		NaN											0	0	0	0.009096	0	3	43				
ZNF273	10793	broad.mit.edu	37	7	64363703	64363703	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:64363703C>T	uc003tto.2	+	1	84	c.8C>T	c.(7-9)TCT>TTT	p.S3F	ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTATGTCCTCTGCTCCTAGA	0.592		NaN											0	0	0	0.013537	0	13	37				
DNAJC30	84277	broad.mit.edu	37	7	73097498	73097498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:73097498C>T	uc003tys.1	-	1	284	c.256G>A	c.(256-258)GAG>AAG	p.E86K	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	86	J.				protein folding		heat shock protein binding|unfolded protein binding				0						TCGGCGGCCTCCGCGCTCCCG	0.662		NaN											0	0	0	0.008871	0	20	70				
PCLO	27445	broad.mit.edu	37	7	82544005	82544005	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:82544005C>G	uc003uhx.2	-	7	13586	c.13297G>C	c.(13297-13299)GAA>CAA	p.E4433Q	PCLO_uc003uhv.2_Missense_Mutation_p.E4433Q|PCLO_uc010lec.2_Missense_Mutation_p.E1398Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4364					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATTTACCTTCACTGTCTGAC	0.418		NaN											0	0	0	0.000602	0	5	20				
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:90741917G>C	uc003uky.2	+	13	1437	c.1215G>C	c.(1213-1215)AAG>AAC	p.K405N	CDK14_uc003ukz.1_Missense_Mutation_p.K387N|CDK14_uc010les.1_Missense_Mutation_p.K359N|CDK14_uc011khl.1_Missense_Mutation_p.K276N	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GTTCCCCAAAGAACAGACTGT	0.502		NaN											0	0	0	0.009096	0	4	112				
PTCD1	26024	broad.mit.edu	37	7	99057790	99057790	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:99057790C>G	uc011kiw.1	-	2	84	c.40G>C	c.(40-42)GAG>CAG	p.E14Q	ATP5J2_uc003uql.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqm.2_Missense_Mutation_p.E20Q|ATP5J2_uc003uqn.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqo.2_Missense_Mutation_p.E20Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	Error:Variant_position_missing_in_O75127_after_alignment										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGTTTGACCTCCAGAAGTTTC	0.483		NaN											0	0	0	0.009535	0	30	157				
RELN	5649	broad.mit.edu	37	7	103322663	103322663	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:103322663C>T	uc003vca.2	-	11	1349	c.1189G>A	c.(1189-1191)GAA>AAA	p.E397K	RELN_uc010liz.2_Missense_Mutation_p.E397K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	397					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGCTGCCTTCATTTCCATGG	0.458		NaN											0	0	0	0.001984	0	4	88				
SLC26A3	1811	broad.mit.edu	37	7	107408296	107408296	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:107408296G>A	uc003ver.2	-	19	2331	c.2120C>T	c.(2119-2121)TCA>TTA	p.S707L	SLC26A3_uc003ves.2_Missense_Mutation_p.S594L	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	707	Helical; (Potential).|STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						GAAAAATATTGAGCTTTTCAC	0.323		NaN											0	0	0	0.00308	0	8	26				
PPP1R3A	5506	broad.mit.edu	37	7	113558970	113558970	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:113558970C>T	uc010ljy.1	-	1	113	c.82G>A	c.(82-84)GAT>AAT	p.D28N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	28					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ACTTCTTCATCTTCACAAAGA	0.398		NaN											0	0	0	0.014323	0	21	56				
TES	26136	broad.mit.edu	37	7	115890320	115890320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:115890320G>A	uc003vho.2	+	4	653	c.472G>A	c.(472-474)GAC>AAC	p.D158N	TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.D149N|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	158	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CCCTGCACATGACCAGGACCC	0.532		NaN											0	0	0	0.004482	0	9	53				
TAS2R16	50833	broad.mit.edu	37	7	122635437	122635437	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:122635437G>A	uc003vkl.1	-	1	318	c.252C>T	c.(250-252)ACC>ACT	p.T84T		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	84	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						AAAATTCCCAGGTGATTGTTA	0.398		NaN											0	0	0	0.001984	0	7	30				
NRF1	4899	broad.mit.edu	37	7	129394931	129394931	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:129394931G>A	uc003voz.2	+	11	1539	c.1422G>A	c.(1420-1422)CAG>CAA	p.Q474Q	NRF1_uc003vpa.2_Silent_p.Q493Q|NRF1_uc011kpa.1_Silent_p.Q313Q|NRF1_uc003vpb.2_Silent_p.Q474Q	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	474	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GACCAGTGCAGGTGGCCATGG	0.592		NaN											0	0	0	0.006214	0	10	42				
CLCN1	1180	broad.mit.edu	37	7	143039095	143039095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:143039095G>C	uc003wcr.1	+	15	1743	c.1656G>C	c.(1654-1656)CAG>CAC	p.Q552H	CLCN1_uc011ktc.1_Missense_Mutation_p.Q164H	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	552			Q -> R (in THD, MCR and in myotonia levior).		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)					TAACGGGTCAGATTGCTCACA	0.532		NaN											0	0	0	0.00333	0	23	45				
SGK223	157285	broad.mit.edu	37	8	8175696	8175697	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:8175696_8175697TC>AT	uc003wsh.3	-	5	4188_4189	c.4188_4189GA>AT	c.(4186-4191)CTGAAG>CTATAG	p.K1397*		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1397							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGCAGGAGCTTCAGCGACTGTA	0.658		NaN											0	0	0	0.004672	0	8	29				
SLC7A2	6542	broad.mit.edu	37	8	17401171	17401171	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:17401171G>C	uc011kyc.1	+	2	492	c.323G>C	c.(322-324)GGA>GCA	p.G108A	SLC7A2_uc011kyd.1_Missense_Mutation_p.G148A|SLC7A2_uc011kye.1_Missense_Mutation_p.G148A|SLC7A2_uc011kyf.1_Missense_Mutation_p.G108A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	108	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGACTGTCGGAGAGCTGTGG	0.493		NaN											0	0	0	0.008871	0	18	28				
KCNU1	157855	broad.mit.edu	37	8	36642013	36642013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:36642013C>T	uc010lvw.2	+	1	172	c.85C>T	c.(85-87)CTC>TTC	p.L29F	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	29	Helical; Name=Segment S0; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTCATTCTCTCTTCCTT	0.423		NaN											0	0	0	0.000602	0	5	37				
RAB11FIP1	80223	broad.mit.edu	37	8	37729403	37729403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729403C>G	uc003xkm.1	-	4	2961	c.2917G>C	c.(2917-2919)GAT>CAT	p.D973H	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	973					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAACCTGATCTATTCTTTCA	0.458		NaN											0	0	0	0.006214	0	10	67				
RAB11FIP1	80223	broad.mit.edu	37	8	37729766	37729766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729766C>G	uc003xkm.1	-	4	2598	c.2554G>C	c.(2554-2556)GAG>CAG	p.E852Q	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	852					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAGGAGGCTCTCCGTCAGAC	0.637		NaN											0	0	0	0.006214	0	7	40				
RAB11FIP1	80223	broad.mit.edu	37	8	37730228	37730228	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37730228C>G	uc003xkm.1	-	4	2136	c.2092G>C	c.(2092-2094)GAA>CAA	p.E698Q	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	698					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCCCTGTTTCAGGCTGCTCT	0.527		NaN											0	0	0	0.010729	0	11	43				
ADAM2	2515	broad.mit.edu	37	8	39613416	39613416	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:39613416C>G	uc003xnj.2	-	16	1703	c.1628G>C	c.(1627-1629)GGA>GCA	p.G543A	ADAM2_uc003xnk.2_Missense_Mutation_p.G524A|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	543	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)		TATTAATTTTCCGCACTGCAG	0.244		NaN											0	0	0	0.00308	0	8	54				
RUNX1T1	862	broad.mit.edu	37	8	92972521	92972521	+	Silent	SNP	C	C	T	rs144186445		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:92972521C>T	uc003yfd.2	-	11	1848	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	RUNX1T1_uc003yfc.1_Silent_p.P561P|RUNX1T1_uc003yfe.1_Silent_p.P551P|RUNX1T1_uc010mao.2_Silent_p.P561P|RUNX1T1_uc011lgi.1_Silent_p.P599P|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.P213P|RUNX1T1_uc003yfb.1_Silent_p.P551P	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	588					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGTTGACCTCGGAGTGGCTG	0.612		NaN											0	0	0	0.009096	0	4	12				
FBXO43	286151	broad.mit.edu	37	8	101149855	101149855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:101149855G>C	uc003yjd.2	-	3	2325	c.1612C>G	c.(1612-1614)CAA>GAA	p.Q538E	FBXO43_uc003yje.2_Missense_Mutation_p.Q504E|FBXO43_uc010mbp.1_Missense_Mutation_p.Q538E	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	538	F-box.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTTATCTTGAACAACAATT	0.299		NaN											0	0	0	0.004007	0	15	28				
ABRA	137735	broad.mit.edu	37	8	107782327	107782327	+	Missense_Mutation	SNP	C	C	G	rs148182297		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:107782327C>G	uc003ymm.3	-	1	146	c.92G>C	c.(91-93)CGA>CCA	p.R31P		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	31					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGCCAACCTCGGGCCAAGCT	0.647		NaN											0	0	0	0.008291	0	8	83				
ZNF696	79943	broad.mit.edu	37	8	144377992	144377992	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:144377992C>A	uc003yxy.3	+	3	556	c.147C>A	c.(145-147)GCC>GCA	p.A49A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGGAGCCTGCCGCAGAGGCAG	0.672		NaN											1	0	0.004672	0.004672	0.00485041	2	3				
IFNA7	3444	broad.mit.edu	37	9	21202054	21202054	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:21202054G>C	uc003zop.1	-	1	151	c.111C>G	c.(109-111)GCC>GCG	p.A37A	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	37					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGTATCAAGGCCCTCCTAT	0.502		NaN											0	0	0	0.00333	0	22	121				
MURC	347273	broad.mit.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:103348453G>A	uc004bba.2	+	2	905	c.815G>A	c.(814-816)CGC>CAC	p.R272H		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537		NaN											0	0	0	0.00632	0	25	104				
PPP3R2	5535	broad.mit.edu	37	9	104357001	104357001	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:104357001C>G	uc004bbr.2	-	1	283	c.212G>C	c.(211-213)GGA>GCA	p.G71A	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	68	EF-hand 2.|2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTCCACTTCTCCATCACCGTC	0.577		NaN											0	0	0	0.00245	0	15	86				
CEP110	11064	broad.mit.edu	37	9	123932082	123932082	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:123932082G>C	uc004bkx.1	+	37	6295	c.6264G>C	c.(6262-6264)GAG>GAC	p.E2088D	CEP110_uc004blb.1_Missense_Mutation_p.E757D|CEP110_uc010mvp.1_Missense_Mutation_p.E38D	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	2088	Required for centrosome localization.|Sufficient for interaction with HOOK2.|Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GCCAGCTGGAGAAAAACCTTC	0.443		NaN											0	0	0	0.004672	0	3	81				
OR1J2	26740	broad.mit.edu	37	9	125273495	125273495	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:125273495G>C	uc004bmj.1	+	4	1270	c.415G>C	c.(415-417)GAG>CAG	p.E139Q	OR1J2_uc011lyv.1_Missense_Mutation_p.E139Q	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CATGAGGGAAGAGCTCTGTGT	0.478		NaN											0	0	0	0.00308	0	8	51				
GOLGA1	2800	broad.mit.edu	37	9	127693663	127693663	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127693663C>G	uc004bpc.2	-	4	500	c.158G>C	c.(157-159)AGA>ACA	p.R53T	GOLGA1_uc010mwt.1_Missense_Mutation_p.R53T	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	53	Potential.					Golgi cisterna membrane				ovary(1)	1						AAGATCTTCTCTGGAGCTGCT	0.433		NaN											0	0	0	0.010504	0	19	87				
SCAI	286205	broad.mit.edu	37	9	127734000	127734000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127734000C>T	uc004bpe.2	-	16	1604	c.1523G>A	c.(1522-1524)CGA>CAA	p.R508Q	SCAI_uc004bpd.2_Missense_Mutation_p.R531Q|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	508					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						GTTGATTTTTCGAAGATATTC	0.408		NaN											0	0	0	0.003954	0	24	96				
SPTAN1	6709	broad.mit.edu	37	9	131388736	131388736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:131388736G>A	uc004bvl.3	+	48	6444	c.6331G>A	c.(6331-6333)GAG>AAG	p.E2111K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2116K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2091K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2111	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAAAATGCAGAGGAGGACTT	0.567		NaN											0	0	0	0.00499	0	18	137				
CARD9	64170	broad.mit.edu	37	9	139266398	139266398	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139266398C>T	uc004chg.3	-	2	299	c.133G>A	c.(133-135)GAG>AAG	p.E45K	CARD9_uc011mdw.1_Missense_Mutation_p.E45K|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Missense_Mutation_p.E45K	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	45	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTCCTCATCATCGGGG	0.637		NaN											0	0	0	0.00632	0	30	161				
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139741083C>T	uc011meh.1	+	1	2217	c.2217C>T	c.(2215-2217)ATC>ATT	p.I739I	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739											0						TCTCGCGCATCGCGCGTGTCG	0.706		NaN											0	0	0	0.004482	0	9	9				
PHEX	5251	broad.mit.edu	37	X	22056609	22056609	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:22056609C>T	uc004dah.2	+	2	344	c.141C>T	c.(139-141)CTC>CTT	p.L47L	PHEX_uc011mjr.1_Silent_p.L47L|PHEX_uc011mjs.1_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	47	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TCTTAAGTCTCCAAGCTAAAC	0.453		NaN											0	0	0	0.007835	0	40	176				
PTCHD1	139411	broad.mit.edu	37	X	23412194	23412194	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:23412194G>C	uc004dal.3	+	3	2567	c.2559G>C	c.(2557-2559)AAG>AAC	p.K853N		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	853					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CACCCTCTAAGAAAAAAAGGA	0.403		NaN											0	0	0	0.00623	0	38	78				
FAM47C	442444	broad.mit.edu	37	X	37029100	37029100	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:37029100G>C	uc004ddl.1	+	1	2631	c.2617G>C	c.(2617-2619)GAC>CAC	p.D873H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	873										ovary(3)	3						CAGTCTGTTTGACTTTACCCC	0.458		NaN											0	0	0	0.004482	0	8	133				
RPGR	6103	broad.mit.edu	37	X	38150241	38150241	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:38150241A>C	uc004ded.1	-	13	1711	c.1543T>G	c.(1543-1545)TTA>GTA	p.L515V	RPGR_uc004deb.2_Missense_Mutation_p.L515V|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	515					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GATAATTTTAATGACTTTTCA	0.229		NaN											0	0	0	0.001984	0	6	30				
PHF16	9767	broad.mit.edu	37	X	46884244	46884244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:46884244G>C	uc004dgx.2	+	5	454	c.403G>C	c.(403-405)GTT>CTT	p.V135L	PHF16_uc004dgy.2_Missense_Mutation_p.V135L	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	135					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						GGCAGCATCTGTTTGCCGCTA	0.468		NaN											0	0	0	0.007413	0	18	52				
RRAGB	10325	broad.mit.edu	37	X	55755751	55755751	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:55755751G>T	uc004dup.2	+	5	986	c.335G>T	c.(334-336)CGA>CTA	p.R112L	RRAGB_uc004duq.2_Missense_Mutation_p.R84L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	112					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TCTCATGTTCGATTTCTGGGA	0.388		NaN											1	0	1.22574e-08	0.014323	1.31653e-08	22	62				
GDPD2	54857	broad.mit.edu	37	X	69646848	69646848	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:69646848G>A	uc004dyh.2	+	8	940	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	GDPD2_uc010nkx.1_Missense_Mutation_p.R230Q|GDPD2_uc010nky.1_Missense_Mutation_p.R16Q|GDPD2_uc011mpk.1_Missense_Mutation_p.R230Q|GDPD2_uc011mpl.1_Missense_Mutation_p.R151Q|GDPD2_uc011mpm.1_Missense_Mutation_p.R151Q	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	230	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					GTGGGACACCGAGGGGCCCCC	0.612		NaN											0	0	0	0.001984	0	7	34				
FOXO4	4303	broad.mit.edu	37	X	70321316	70321316	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70321316C>A	uc004dys.1	+	2	1589	c.1236C>A	c.(1234-1236)GTC>GTA	p.V412V	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.V357V	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	412					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CCACGGGCGTCGGCCTGTGTC	0.617		NaN											1	0	0.00116845	0.001168	0.00121888	6	29				
MED12	9968	broad.mit.edu	37	X	70338701	70338701	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70338701G>A	uc004dyy.2	+	1	296	c.97G>A	c.(97-99)GAG>AAG	p.E33K	MED12_uc011mpq.1_Missense_Mutation_p.E33K|MED12_uc004dyz.2_Missense_Mutation_p.E33K|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	33					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CAAACAGAAGGAGGTGCGTTC	0.677		NaN											0	0	0	0.001168	0	5	9				
GPRASP2	114928	broad.mit.edu	37	X	101970821	101970821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:101970821C>T	uc004ejk.2	+	4	2358	c.1024C>T	c.(1024-1026)CCT>TCT	p.P342S	GPRASP2_uc004ejl.2_Missense_Mutation_p.P342S|GPRASP2_uc004ejm.2_Missense_Mutation_p.P342S|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	342						cytoplasm	protein binding			ovary(1)	1						CTGGGTTTTGCCTGGAGAAGA	0.448		NaN											0	0	0	0.009096	0	4	116				
IL1RAPL2	26280	broad.mit.edu	37	X	105011463	105011463	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:105011463G>C	uc004elz.1	+	11	2626	c.1870G>C	c.(1870-1872)GAG>CAG	p.E624Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	624	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TTATAAACATGAGATACCAGC	0.478		NaN											0	0	0	0.004482	0	9	118				
RBMX2	51634	broad.mit.edu	37	X	129545341	129545341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:129545341G>A	uc004evt.2	+	5	387	c.323G>A	c.(322-324)CGA>CAA	p.R108Q		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	108	RRM.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						AGAACTATCCGAGTGGATCAT	0.478		NaN											0	0	0	0.00308	0	8	89				
GPR50	9248	broad.mit.edu	37	X	150349383	150349383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:150349383C>G	uc010ntg.1	+	2	1463	c.1328C>G	c.(1327-1329)TCT>TGT	p.S443C		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	443	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCCTCTGTCCATTTC	0.557		NaN											0	0	0	0.00308	0	8	371				
PNMA5	114824	broad.mit.edu	37	X	152159943	152159943	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:152159943A>G	uc010ntw.2	-	3	539	c.200T>C	c.(199-201)ATT>ACT	p.I67T	PNMA5_uc004fha.3_Missense_Mutation_p.I67T|PNMA5_uc010ntx.2_Missense_Mutation_p.I67T|PNMA5_uc004fgy.3_Missense_Mutation_p.I67T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	67					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					agccagttcaatgaagactgc	0		NaN											0	0	0	0.00632	0	29	117				
SPAG17	200162	broad.mit.edu	37	1	118640369	118640379	+	Frame_Shift_Del	DEL	AGATTTGTTTC	AGATTTGTTTC	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:118640369_118640379delAGATTTGTTTC	uc001ehk.2	-	7	993_1003	c.925_935delGAAACAAATCT	c.(925-936)GAAACAAATCTCfs	p.E309fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309_312						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AACATCAAAGAGATTTGTTTCAGGTTTCTCA	0.374		NaN											NaN	NaN	NaN	NaN	NaN	17	37	---		---	---
ZCCHC8	55596	broad.mit.edu	37	12	122958340	122958340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122958340delC	uc001ucn.2	-	14	1959	c.1828delG	c.(1828-1830)GAAfs	p.E610fs	ZCCHC8_uc001ucl.2_Frame_Shift_Del_p.E221fs|ZCCHC8_uc001ucm.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxp.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxq.2_Frame_Shift_Del_p.E372fs	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	610						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTGCTTTTTCCTTCTGACAA	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	262	---		---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473589	43473589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:43473589delG	uc002iix.2	-	14	1661	c.1212delC	c.(1210-1212)CGCfs	p.R404fs	ARHGAP27_uc010dak.2_Frame_Shift_Del_p.R377fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	745	Rho-GAP.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CCACCTTATAGCGTAGCTTCT	0.647		NaN											NaN	NaN	NaN	NaN	NaN	32	57	---		---	---
TSSC1	7260	broad.mit.edu	37	2	3197914	3197915	+	In_Frame_Ins	INS	-	-	CAT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:3197914_3197915insCAT	uc002qxj.2	-	7	869_870	c.676_677insATG	c.(676-678)GCC>GATGCC	p.225_226insD	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	225_226	WD 3.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTGTCCGTGGGCATTCTCTATG	0.515		NaN											NaN	NaN	NaN	NaN	NaN	35	96	---		---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:98427639delT	uc002syh.3	-	18	2149	c.1920delA	c.(1918-1920)AAAfs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	640						integral to membrane				ovary(4)|central_nervous_system(2)	6						TCCCCTCTAATTTTTTTGCAG	0.393		NaN											NaN	NaN	NaN	NaN	NaN	8	261	---		---	---
VGLL4	9686	broad.mit.edu	37	3	11744444	11744444	+	Splice_Site	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:11744444delC	uc003bwf.2	-	2	430	c.64_splice	c.e2+1	p.R22_splice	VGLL4_uc003bwg.2_Splice_Site	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCCTCACTTACGTTTTTCGTC	0.418		NaN											NaN	NaN	NaN	NaN	NaN	13	16	---		---	---
HOXA1	3198	broad.mit.edu	37	7	27135004	27135010	+	Frame_Shift_Del	DEL	ATACGTA	ATACGTA	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:27135004_27135010delATACGTA	uc003sye.2	-	1	616_622	c.522_528delTACGTAT	c.(520-528)GCTACGTATfs	p.A174fs	HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	174_176						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						AGGAGTTATTATACGTAGCCAGGGCCA	0.58		NaN											NaN	NaN	NaN	NaN	NaN	51	129	---		---	---
