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_tumor_sample							
ARHGEF19	128272	broad.mit.edu	37	1	16531255	16531255	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:16531255C>T	uc001ayc.1	-	12	2043	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.E113K	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	636	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACTCACTCCTTCCGCCGA	0.617		NaN											0	0	0	0.010729	0	10	20									
LUZP1	7798	broad.mit.edu	37	1	23418665	23418665	+	Missense_Mutation	SNP	C	C	T	rs141739515	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:23418665C>T	uc001bgk.2	-	4	2474	c.2090G>A	c.(2089-2091)CGA>CAA	p.R697Q	LUZP1_uc010odv.1_Missense_Mutation_p.R697Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R697Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R697Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	697						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTGCCCCTCGGGTTTTAGC	0.463		NaN											0	0	0	0.008871	0	19	382									
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:29070328G>A	uc001brc.2	+	4	2043	c.1546G>A	c.(1546-1548)GAG>AAG	p.E516K	YTHDF2_uc001brd.2_Missense_Mutation_p.E513K|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466K|YTHDF2_uc001bre.2_Missense_Mutation_p.E466K	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	516	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478		NaN											0	0	0	0.02938	0	6	94									
CMPK1	51727	broad.mit.edu	37	1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:47840885C>T	uc001cri.2	+	5	714	c.565C>T	c.(565-567)CAG>TAG	p.Q189*	CMPK1_uc010omp.1_Nonsense_Mutation_p.Q140*|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	157					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)	GACCTACCTTCAGTCAACAAA	0.368		NaN											0	0	0	0.008291	0	10	164									
LRRC7	57554	broad.mit.edu	37	1	70505042	70505042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:70505042G>A	uc001dep.2	+	19	3451	c.3421G>A	c.(3421-3423)GAT>AAT	p.D1141N	LRRC7_uc009wbg.2_Missense_Mutation_p.D425N|LRRC7_uc001deq.2_Missense_Mutation_p.D382N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						centrosome|focal adhesion|nucleolus	protein binding	p.D1141N(1)		ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GCCCCCAACTGATAGGTACGG	0.572		NaN											0	0	0	0.025465	0	40	112									
COL11A1	1301	broad.mit.edu	37	1	103404632	103404632	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:103404632C>T	uc001dul.2	-	44	3715	c.3397G>A	c.(3397-3399)GAG>AAG	p.E1133K	COL11A1_uc001duk.2_Missense_Mutation_p.E329K|COL11A1_uc001dum.2_Missense_Mutation_p.E1145K|COL11A1_uc001dun.2_Missense_Mutation_p.E1094K|COL11A1_uc009weh.2_Missense_Mutation_p.E1017K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1133	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCCCGGCTCACCAATTTCA	0.333		NaN											0	0	0	0.017118	0	32	81									
DENND2C	163259	broad.mit.edu	37	1	115166229	115166229	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:115166229C>T	uc001efd.1	-	5	1544	c.842G>A	c.(841-843)CGA>CAA	p.R281Q	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R281Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	281										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCGATTTCGAAAGTGCTG	0.303		NaN											0	0	0	0.009096	0	4	42									
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:149871751G>A	uc001etf.2	+	2	260	c.139G>A	c.(139-141)GAG>AAG	p.E47K		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	47						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677		NaN											0	0	0	0.009096	0	4	36									
SEMA4A	64218	broad.mit.edu	37	1	156145022	156145022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:156145022C>G	uc001fnl.2	+	13	1684	c.1580C>G	c.(1579-1581)TCT>TGT	p.S527C	SEMA4A_uc009wrq.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnm.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnn.2_Missense_Mutation_p.S395C|SEMA4A_uc001fno.2_Missense_Mutation_p.S527C	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	527	Extracellular (Potential).|PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TGCCTCCTGTCTGCCCCCAAC	0.617		NaN											0	0	0	0.01441	0	68	192									
OR10K1	391109	broad.mit.edu	37	1	158435847	158435847	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:158435847C>G	uc010pij.1	+	1	496	c.496C>G	c.(496-498)CTG>GTG	p.L166V		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTATTTCATCTGCCCTTCCA	0.547		NaN											0	0	0	0.01441	0	64	180									
USP21	27005	broad.mit.edu	37	1	161132715	161132715	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:161132715G>A	uc010pke.1	+	7	1277	c.900G>A	c.(898-900)CAG>CAA	p.Q300Q	USP21_uc010pkc.1_Silent_p.Q300Q|USP21_uc010pkd.1_Silent_p.Q300Q|USP21_uc010pkf.1_Silent_p.Q300Q	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	300					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGCCAGCAGGATGCCCAAG	0.557		NaN											0	0	0	0.004482	0	9	78									
TPR	7175	broad.mit.edu	37	1	186283842	186283842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:186283842G>A	uc001grv.2	-	50	7252	c.6955C>T	c.(6955-6957)CAA>TAA	p.Q2319*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2319					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTTTGGTTGACTACTACTA	0.333		NaN	T	NTRK1	papillary thyroid								0	0	0	0.02938	0	6	58									
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:205069074G>A	uc001hbu.1	-	8	1001	c.871C>T	c.(871-873)CAT>TAT	p.H291Y	RBBP5_uc010prd.1_Missense_Mutation_p.H326Y|RBBP5_uc001hbv.1_Missense_Mutation_p.H291Y|RBBP5_uc010pre.1_Missense_Mutation_p.H158Y	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291	WD 5.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458		NaN											0	0	0	0.01441	0	47	196									
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:5995118C>T	uc001iiv.2	-	7	826	c.744G>A	c.(742-744)CCG>CCA	p.P248P	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	248	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						CCCAAGTCACCGGCAGAGCCT	0.557		NaN											0	0	0	0.013537	0	12	82									
ERCC6	2074	broad.mit.edu	37	10	50708622	50708622	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:50708622C>G	uc001jhs.3	-	7	1801	c.1647G>C	c.(1645-1647)CTG>CTC	p.L549L	ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	549	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TGCTGTAGCTCAGACCTGCCA	0.483		NaN						Direct_reversal_of_damage|NER					0	0	0	0.020292	0	13	114									
SRGN	5552	broad.mit.edu	37	10	70863778	70863778	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:70863778G>A	uc001joz.2	+	3	465	c.379G>A	c.(379-381)GAT>AAT	p.D127N		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	127					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						AGACGAAAGTGATGCTTTCCA	0.483		NaN											0	0	0	0.00308	0	8	90									
H2AFY2	55506	broad.mit.edu	37	10	71871382	71871382	+	Silent	SNP	C	C	T	rs145574275	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:71871382C>T	uc001jqm.2	+	9	1521	c.1062C>T	c.(1060-1062)TTC>TTT	p.F354F	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	354	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TCCTGCTCTTCGACAGCGAGA	0.602		NaN											0	0	0	0.008291	0	11	46									
MRGPRX2	117194	broad.mit.edu	37	11	19077358	19077358	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:19077358G>A	uc001mph.2	-	2	680	c.592C>T	c.(592-594)CTC>TTC	p.L198F		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	198	Helical; Name=5; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GACCCACAGAGAACCATGAAT	0.517		NaN											0	0	0	0.02938	0	7	63									
CELF1	10658	broad.mit.edu	37	11	47493803	47493803	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:47493803C>T	uc001nfl.2	-	12	1450	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K	CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Silent_p.K477K|CELF1_uc001nfn.2_Silent_p.K476K|CELF1_uc001nfo.1_Silent_p.K506K|CELF1_uc010rhm.1_Silent_p.K479K|CELF1_uc001nfp.2_Silent_p.K508K|CELF1_uc001nfq.1_Silent_p.K480K|CELF1_uc001nfr.1_Silent_p.K480K	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	480					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						TGCTGTCATTCTTCGAACGTT	0.527		NaN											0	0	0	0.0333	0	18	270									
OR4X2	119764	broad.mit.edu	37	11	48267202	48267202	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:48267202G>A	uc001ngs.1	+	1	547	c.547G>A	c.(547-549)GAC>AAC	p.D183N		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCTGCTCTGACACCTTCCT	0.483		NaN											0	0	0	0.028581	0	15	266									
OR5D18	219438	broad.mit.edu	37	11	55587678	55587678	+	Silent	SNP	T	T	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:55587678T>A	uc010rin.1	+	1	573	c.573T>A	c.(571-573)TCT>TCA	p.S191S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TTTCTTGCTCTGATACTTACA	0.398		NaN											0	0	0	0.0333	0	16	133									
OR5M1	390168	broad.mit.edu	37	11	56380343	56380343	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:56380343G>A	uc001nja.1	-	1	636	c.636C>T	c.(634-636)TTC>TTT	p.F212F		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GAAGAATGATGAAGAGAGAGC	0.473		NaN											0	0	0	0.028581	0	16	98									
ATG2A	23130	broad.mit.edu	37	11	64669802	64669802	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:64669802G>C	uc001obx.2	-	28	3949	c.3834C>G	c.(3832-3834)ATC>ATG	p.I1278M	ATG2A_uc001obw.2_Missense_Mutation_p.I43M	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1278							protein binding			ovary(1)|central_nervous_system(1)	2						CACGCTGGTTGATGAGGGCCG	0.672		NaN											0	0	0	0.004672	0	3	18									
C11orf30	56946	broad.mit.edu	37	11	76171016	76171016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:76171016C>T	uc001oxl.2	+	6	601	c.458C>T	c.(457-459)CCA>CTA	p.P153L	C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Missense_Mutation_p.P168L|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Missense_Mutation_p.P154L|C11orf30_uc010rsb.1_Missense_Mutation_p.P168L|C11orf30_uc010rsc.1_Missense_Mutation_p.P168L|C11orf30_uc001oxn.2_Missense_Mutation_p.P154L|C11orf30_uc010rsd.1_Missense_Mutation_p.P167L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	153	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						ACGTCAACCCCAACCTCTACC	0.458		NaN											0	0	0	0.012213	0	33	179									
GUCY1A2	2977	broad.mit.edu	37	11	106558346	106558346	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:106558346G>C	uc001pjg.1	-	8	2518	c.2128C>G	c.(2128-2130)CTT>GTT	p.L710V	GUCY1A2_uc010rvo.1_Missense_Mutation_p.L731V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.L741V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	710					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GACGAAGAAAGAGAAGGCTTT	0.488		NaN											0	0	0	0.024245	0	16	154									
FDXACB1	91893	broad.mit.edu	37	11	111746739	111746739	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:111746739C>A	uc001pmc.3	-	5	1079	c.782G>T	c.(781-783)AGG>ATG	p.R261M	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R112M	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	261					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ACACTTCAGCCTTTTTAGCGG	0.423		NaN											1	0	1.67942e-08	0.006122	1.75023e-08	19	108									
NLRX1	79671	broad.mit.edu	37	11	119045225	119045225	+	Missense_Mutation	SNP	C	C	T	rs149154497		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:119045225C>T	uc001pvu.2	+	6	1128	c.913C>T	c.(913-915)CGC>TGC	p.R305C	NLRX1_uc010rzc.1_Missense_Mutation_p.R127C|NLRX1_uc001pvv.2_Missense_Mutation_p.R305C|NLRX1_uc001pvw.2_Missense_Mutation_p.R305C|NLRX1_uc001pvx.2_Missense_Mutation_p.R305C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	305	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTACGTGGGCCGCTATGGTGA	0.567		NaN											0	0	0	0.010729	0	12	194									
PZP	5858	broad.mit.edu	37	12	9313698	9313698	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:9313698C>G	uc001qvl.2	-	23	2832	c.2803G>C	c.(2803-2805)GAG>CAG	p.E935Q	PZP_uc009zgl.2_Missense_Mutation_p.E721Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.L166L	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GACAACTGCTCAGACACATTA	0.353		NaN											0	0	0	0.010818	0	31	86									
RECQL	5965	broad.mit.edu	37	12	21624476	21624476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:21624476G>A	uc001rex.2	-	14	1901	c.1553C>T	c.(1552-1554)TCT>TTT	p.S518F	RECQL_uc001rey.2_Missense_Mutation_p.S518F	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	518					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCCCATCCAAGAATCAATCAG	0.423		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.028581	0	16	159									
DENND5B	160518	broad.mit.edu	37	12	31604940	31604940	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:31604940G>A	uc001rki.1	-	5	1749	c.1563C>T	c.(1561-1563)GTC>GTT	p.V521V	DENND5B_uc001rkh.1_Silent_p.V556V|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.V543V|DENND5B_uc001rkk.1_Silent_p.V443V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	521	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CAGTCTGAATGACAAATGCTT	0.443		NaN											0	0	0	0.010729	0	11	103									
SPATS2	65244	broad.mit.edu	37	12	49883353	49883353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:49883353G>A	uc001rud.2	+	5	1200	c.211G>A	c.(211-213)GAA>AAA	p.E71K	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E71K|SPATS2_uc001ruf.2_Missense_Mutation_p.E71K|SPATS2_uc001rug.2_Missense_Mutation_p.E71K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	71						cytoplasm				breast(1)	1						AGCATTCATGGAAGGTAATCC	0.328		NaN											0	0	0	0.008291	0	10	43									
KRT79	338785	broad.mit.edu	37	12	53225239	53225239	+	Missense_Mutation	SNP	C	C	A	rs140032117	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:53225239C>A	uc001sbb.2	-	2	682	c.649G>T	c.(649-651)GAC>TAC	p.D217Y	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	217	Rod.|Coil 1B.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						AGCTCTGAGTCCAGCCTCCCC	0.622		NaN											1	0	2.09667e-21	0.017118	2.25294e-21	31	115									
NCKAP1L	3071	broad.mit.edu	37	12	54901657	54901657	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:54901657C>G	uc001sgc.3	+	4	406	c.327C>G	c.(325-327)CTC>CTG	p.L109L	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L59L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	109					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ATGAACTTCTCAACACCATTG	0.423		NaN											0	0	0	0.01441	0	42	158									
CDK2	1017	broad.mit.edu	37	12	56361840	56361840	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:56361840G>A	uc001sit.3	+	3	439	c.202G>A	c.(202-204)GAT>AAT	p.D68N	CDK2_uc001siu.3_Missense_Mutation_p.D68N|CDK2_uc010spy.1_Missense_Mutation_p.D42N	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	68	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TAGGCTGCTGGATGTCATTCA	0.443		NaN											0	0	0	0.024245	0	16	104									
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:106820980A>T	uc001tlp.2	+	13	1329	c.1107A>T	c.(1105-1107)TTA>TTT	p.L369F	POLR3B_uc001tlq.2_Missense_Mutation_p.L311F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	369					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTAGCTTTTATCTCTTCTTT	0.269		NaN											0	0	0	0.00308	0	6	12									
TCTN1	79600	broad.mit.edu	37	12	111072480	111072480	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111072480C>T	uc009zvs.2	+	6	826	c.718C>T	c.(718-720)CTG>TTG	p.L240L	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.L180L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Intron|TCTN1_uc001trn.3_Silent_p.L240L|TCTN1_uc001trj.1_Silent_p.L184L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	240					multicellular organismal development	extracellular region					0						TCTAGCGTTTCTGGTGAACCA	0.343		NaN											0	0	0	0.009096	0	4	20									
CUX2	23316	broad.mit.edu	37	12	111785494	111785494	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111785494G>C	uc001tsa.1	+	22	3979	c.3826G>C	c.(3826-3828)GAG>CAG	p.E1276Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGGAACTGGAGCTTCAGGA	0.617		NaN											0	0	0	0.006214	0	10	66									
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr13:110434606T>G	uc001vqv.2	-	1	4309	c.3795A>C	c.(3793-3795)CCA>CCC	p.P1265P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.512		NaN											0	0	0	0.020292	0	8	12									
SUPT16H	11198	broad.mit.edu	37	14	21852042	21852042	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:21852042C>T	uc001wao.2	-	1	384	c.45G>A	c.(43-45)AAG>AAA	p.K15K	SUPT16H_uc001wap.2_Silent_p.K15K|SUPT16H_uc001waq.1_Silent_p.K15K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	15					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTACAGTCTCTTCACTCGCC	0.547		NaN											0	0	0	0.006214	0	8	74									
SMEK1	55671	broad.mit.edu	37	14	91937257	91937257	+	Missense_Mutation	SNP	C	C	G	rs148837810		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937257C>G	uc001xzn.2	-	10	2406	c.1584G>C	c.(1582-1584)AAG>AAC	p.K528N	SMEK1_uc001xzm.2_Missense_Mutation_p.K515N|SMEK1_uc001xzo.2_Missense_Mutation_p.K515N|SMEK1_uc010atz.2_Missense_Mutation_p.K289N|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	528						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TAATGTAGTTCTTTATGTGGT	0.358		NaN											0	0	0	0.007413	0	18	65									
SMEK1	55671	broad.mit.edu	37	14	91937337	91937337	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937337C>T	uc001xzn.2	-	10	2326	c.1504G>A	c.(1504-1506)GAT>AAT	p.D502N	SMEK1_uc001xzm.2_Missense_Mutation_p.D489N|SMEK1_uc001xzo.2_Missense_Mutation_p.D489N|SMEK1_uc010atz.2_Missense_Mutation_p.D263N|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	502						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTCTGAAAATCATCTAAAAGA	0.289		NaN											0	0	0	0.020292	0	11	47									
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:93125804C>G	uc001yap.2	+	7	2477	c.2325C>G	c.(2323-2325)CTC>CTG	p.L775L	RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582		NaN											0	0	0	0.008291	0	9	76									
IQCH	64799	broad.mit.edu	37	15	67793052	67793052	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:67793052G>A	uc002aqo.1	+	21	3099	c.3052G>A	c.(3052-3054)GAT>AAT	p.D1018N	IQCH_uc002aqq.1_Missense_Mutation_p.D675N|IQCH_uc002aqp.1_3'UTR|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	1018										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		ACAGTCCAAAGATGATAAAAA	0.328		NaN											0	0	0	0.00308	0	7	57									
LBXCOR1	390598	broad.mit.edu	37	15	68118511	68118511	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:68118511G>A	uc002aqy.1	+	2	318	c.318G>A	c.(316-318)GAG>GAA	p.E106E		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	115					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GCTATAATGAGATCCACAACC	0.632		NaN											0	0	0	0.010729	0	10	80									
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:69238236C>G	uc002arn.1	+	2	491	c.363C>G	c.(361-363)TTC>TTG	p.F121L	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	121					multicellular organismal development	acrosomal vesicle					0						GTACCCCATTCTGGTCGATCA	0.428		NaN											0	0	0	0.013537	0	11	70									
PARP6	56965	broad.mit.edu	37	15	72552921	72552921	+	Silent	SNP	C	C	T	rs28625945		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:72552921C>T	uc002auc.2	-	9	1113	c.654G>A	c.(652-654)AAG>AAA	p.K218K	PARP6_uc002aua.2_Silent_p.K83K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.K218K	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	218							NAD+ ADP-ribosyltransferase activity				0						CTTTGGGGTTCTTCATGGTAC	0.582		NaN											0	0	0	0.01441	0	69	442									
ISLR2	57611	broad.mit.edu	37	15	74425216	74425216	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:74425216G>C	uc002axd.2	+	4	890	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	ISLR2_uc002axe.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjg.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjf.2_Missense_Mutation_p.E41Q	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	41	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGCTTACAAAGAGTTGCGTGA	0.637		NaN											0	0	0	0.010729	0	10	89									
SRCAP	10847	broad.mit.edu	37	16	30731577	30731577	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:30731577G>T	uc002dze.1	+	19	3297	c.2912G>T	c.(2911-2913)CGC>CTC	p.R971L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R828L|SRCAP_uc010bzz.1_Missense_Mutation_p.R541L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	971					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGCCTCTCTCGCCGGGTACTG	0.567		NaN											1	0	5.44703e-19	0.036044	5.81689e-19	43	212									
TMCO7	79613	broad.mit.edu	37	16	68901008	68901008	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:68901008G>A	uc002ewi.3	+	4	891	c.879G>A	c.(877-879)ATG>ATA	p.M293I	TMCO7_uc002ewh.2_Missense_Mutation_p.M293I	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	293						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGACACAGATGAGGTGTCGGG	0.502		NaN											0	0	0	0.008291	0	11	109									
SDR42E1	93517	broad.mit.edu	37	16	82033729	82033729	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:82033729C>G	uc002fgu.2	-	3	297	c.169G>C	c.(169-171)GAC>CAC	p.D57H		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	57					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						TGGCGGATGTCTCCTTGTATA	0.498		NaN											0	0	0	0.020292	0	13	156									
SMYD4	114826	broad.mit.edu	37	17	1704306	1704306	+	Missense_Mutation	SNP	C	C	T	rs151287405		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:1704306C>T	uc002ftm.3	-	5	550	c.382G>A	c.(382-384)GAC>AAC	p.D128N	SMYD4_uc002ftn.1_5'UTR	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	128							zinc ion binding			skin(3)|kidney(2)	5						CTGTTAATGTCTTTAAGACAC	0.418		NaN											0	0	0	0.020292	0	14	137									
P2RX1	5023	broad.mit.edu	37	17	3801112	3801112	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3801112G>C	uc002fww.2	-	12	1637	c.1196C>G	c.(1195-1197)TCC>TGC	p.S399C		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	399	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGAGCATCAGGATGTCCTCAT	0.642		NaN											0	0	0	0.006214	0	8	17									
ZZEF1	23140	broad.mit.edu	37	17	3954291	3954291	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3954291G>A	uc002fxe.2	-	36	5711	c.5647C>T	c.(5647-5649)CGG>TGG	p.R1883W	ZZEF1_uc002fxh.2_Missense_Mutation_p.R197W|ZZEF1_uc002fxi.2_Missense_Mutation_p.R118W|ZZEF1_uc002fxj.1_Missense_Mutation_p.R496W	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1883							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCACTGATCCGAATGGTTACC	0.532		NaN											0	0	0	0.016522	0	23	49									
ZZEF1	23140	broad.mit.edu	37	17	3977490	3977490	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3977490C>T	uc002fxe.2	-	24	3703	c.3639G>A	c.(3637-3639)CTG>CTA	p.L1213L		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1213							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGCGTCCCATCAGCCGGGAGA	0.572		NaN											0	0	0	0.016723	0	13	197									
NEURL4	84461	broad.mit.edu	37	17	7225069	7225069	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7225069G>A	uc002gga.1	-	18	2916	c.2909C>T	c.(2908-2910)TCC>TTC	p.S970F	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.S968F|NEURL4_uc002ggc.1_Missense_Mutation_p.S316F	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	970	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGCCGCAGGGAACCTGCCCA	0.642		NaN											0	0	0	0.004482	0	9	48									
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7578272G>A	uc002gim.2	-	6	771	c.577C>T	c.(577-579)CAT>TAT	p.H193Y	TP53_uc002gig.1_Missense_Mutation_p.H193Y|TP53_uc002gih.2_Missense_Mutation_p.H193Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61Y|TP53_uc010cng.1_Missense_Mutation_p.H61Y|TP53_uc002gii.1_Missense_Mutation_p.H61Y|TP53_uc010cnh.1_Missense_Mutation_p.H193Y|TP53_uc010cni.1_Missense_Mutation_p.H193Y|TP53_uc002gij.2_Missense_Mutation_p.H193Y|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100Y|TP53_uc002gio.2_Missense_Mutation_p.H61Y|TP53_uc010vug.1_Missense_Mutation_p.H154Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and 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.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		CGGATAAGATGCTGAGGAGGG	0.557		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	0.0333	0	18	41									
SMCR7	125170	broad.mit.edu	37	17	18167607	18167607	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167607G>A	uc002gst.2	+	4	1105	c.894G>A	c.(892-894)GAG>GAA	p.E298E	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.E309E	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	298						integral to membrane	protein binding				0	all_neural(463;0.228)					AACGCCTGGAGCTCACTGTGG	0.682		NaN											0	0	0	0.02938	0	7	92									
SMCR7	125170	broad.mit.edu	37	17	18167950	18167950	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167950G>C	uc002gst.2	+	4	1448	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.E424Q	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	413						integral to membrane	protein binding				0	all_neural(463;0.228)					CGGCAGCCTGGAGCAGGCCAG	0.622		NaN											0	0	0	0.021553	0	6	55									
TNFAIP1	7126	broad.mit.edu	37	17	26669328	26669328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:26669328C>T	uc002hax.1	+	6	593	c.574C>T	c.(574-576)CGC>TGC	p.R192C	TNFAIP1_uc002hay.2_Missense_Mutation_p.R192C|TNFAIP1_uc010waf.1_Missense_Mutation_p.R88C	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	192					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTCTCCCTGCGCTTCAACGG	0.547		NaN											0	0	0	0.004482	0	9	41									
RNF135	84282	broad.mit.edu	37	17	29325811	29325811	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:29325811C>G	uc002hfz.2	+	5	1037	c.901C>G	c.(901-903)CAG>GAG	p.Q301E	RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	ring finger protein 135 isoform 1	301	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		skin(2)	2		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TTCTACCAGCCAGGTCTTATG	0.557		NaN											0	0	0	0.02938	0	7	72									
ERBB2	2064	broad.mit.edu	37	17	37881392	37881392	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:37881392A>G	uc002hso.2	+	21	2822	c.2584A>G	c.(2584-2586)ACA>GCA	p.T862A	ERBB2_uc002hsm.2_Missense_Mutation_p.T832A|ERBB2_uc010cwa.2_Missense_Mutation_p.T847A|ERBB2_uc002hsp.2_Missense_Mutation_p.T665A|ERBB2_uc010cwb.2_Missense_Mutation_p.T862A|ERBB2_uc010wek.1_Missense_Mutation_p.T586A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	862	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T862A(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCAAAATTACAGACTTCGG	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.028581	0	15	72									
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:39261693A>T	uc010wfp.1	+	1	53	c.53A>T	c.(52-54)GAC>GTC	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament					0						TGCGGCCAAGACCTCTGTCAG	0.627		NaN											0	0	0	0.006214	0	9	43									
PLEKHH3	79990	broad.mit.edu	37	17	40823447	40823447	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:40823447C>T	uc002iau.2	-	8	1673	c.1206G>A	c.(1204-1206)CAG>CAA	p.Q402Q	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.Q402Q	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	402					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACAGCAGCTCCTGCCGTTGGC	0.677		NaN											0	0	0	0.021553	0	5	41									
WFIKKN2	124857	broad.mit.edu	37	17	48917592	48917592	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:48917592G>A	uc002isv.3	+	2	1637	c.943G>A	c.(943-945)GAG>AAG	p.E315K	WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222K	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	315						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657		NaN											0	0	0	0.006214	0	9	71									
TEX2	55852	broad.mit.edu	37	17	62248557	62248557	+	Silent	SNP	G	G	C	rs112066687		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62248557G>C	uc002jec.2	-	7	2747	c.2574C>G	c.(2572-2574)CTC>CTG	p.L858L	TEX2_uc002jed.2_Silent_p.L865L|TEX2_uc002jee.2_Silent_p.L858L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	858					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAAGTAGGGGAGCTAGAGGA	0.493		NaN											0	0	0	0.014758	0	5	38									
DDX5	1655	broad.mit.edu	37	17	62502215	62502215	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62502215C>T	uc002jek.2	-	1	270	c.23G>A	c.(22-24)CGA>CAA	p.R8Q	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.R8Q|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	8					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCGCGGTCTCGGTCACTCGA	0.652		NaN	T	ETV4	prostate								0	0	0	0.014758	0	4	9									
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:76547693C>G	uc002jvv.1	-	12	1527	c.1421G>C	c.(1420-1422)CGA>CCA	p.R474P						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.338		NaN											0	0	0	0.00308	0	7	95									
TUBB6	84617	broad.mit.edu	37	18	12308761	12308761	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:12308761G>A	uc002kqw.2	+	2	178	c.133G>A	c.(133-135)GAG>AAG	p.E45K	TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E45K|TUBB6_uc002kqy.2_Missense_Mutation_p.E45K	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	45					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GCTGCAGCTGGAGAGAATCAA	0.662		NaN											0	0	0	0.0333	0	16	76									
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:71797676G>A	uc002lle.2	-	4	658	c.322C>T	c.(322-324)CCA>TCA	p.P108S	FBXO15_uc002llf.2_Missense_Mutation_p.P184S	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	108										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433		NaN											0	0	0	0.004482	0	8	74									
FSD1	79187	broad.mit.edu	37	19	4305978	4305978	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:4305978G>A	uc002lzy.2	+	2	204	c.51G>A	c.(49-51)GTG>GTA	p.V17V	FSD1_uc010xie.1_Intron|FSD1_uc010xif.1_Intron|FSD1_uc002lzz.2_Silent_p.V17V	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	17	Potential.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGCTGTGAAGAATGAAG	0.418		NaN											0	0	0	0.014323	0	19	58									
C19orf57	79173	broad.mit.edu	37	19	14000230	14000230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:14000230G>A	uc002mxl.1	-	6	1498	c.1439C>T	c.(1438-1440)TCT>TTT	p.S480F	C19orf57_uc002mxk.1_Missense_Mutation_p.S362F|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	480					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGCACAACAGAGGCTTGCGG	0.607		NaN											0	0	0	0.010729	0	11	116									
UNC13A	23025	broad.mit.edu	37	19	17746845	17746845	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:17746845G>A	uc002nhd.2	-	26	3467	c.3467C>T	c.(3466-3468)CCC>CTC	p.P1156L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1068					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTTGAGGCAGGGAGTGTAGGA	0.448		NaN											0	0	0	0.021553	0	6	20									
ZNF257	113835	broad.mit.edu	37	19	22271790	22271790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:22271790C>G	uc010ecx.2	+	4	1407	c.1238C>G	c.(1237-1239)TCA>TGA	p.S413*	ZNF257_uc010ecy.2_Nonsense_Mutation_p.S381*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	413	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACTGGTCCTCAGCTCTTACT	0.398		NaN											0	0	0	0.006214	0	10	33									
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:44792882G>C	uc002oza.3	-	5	809	c.706C>G	c.(706-708)CAT>GAT	p.H236D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H232D|ZNF235_uc010xwx.1_Missense_Mutation_p.H150D	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358		NaN											0	0	0	0.00308	0	7	96									
PIH1D1	55011	broad.mit.edu	37	19	49954759	49954759	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:49954759C>T	uc002pns.2	-	1	357	c.73G>A	c.(73-75)GAG>AAG	p.E25K	PIH1D1_uc010yap.1_Missense_Mutation_p.E25K|PIH1D1_uc010yaq.1_Missense_Mutation_p.E25K|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	25					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGCAGCTCCTCAAATCGCGCC	0.602		NaN											0	0	0	0.02938	0	6	90									
ZNF615	284370	broad.mit.edu	37	19	52497183	52497183	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:52497183G>C	uc002pye.1	-	6	1438	c.1146C>G	c.(1144-1146)ACC>ACG	p.T382T	ZNF615_uc002pyf.1_Silent_p.T393T|ZNF615_uc002pyg.1_Silent_p.T274T|ZNF615_uc002pyh.1_Silent_p.T393T|ZNF615_uc010epi.1_Silent_p.T389T|ZNF615_uc010ydg.1_Silent_p.T387T	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	382	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTCTTCAAGGTGAAGCCTT	0.398		NaN											0	0	0	0.006214	0	10	93									
C2orf77	129881	broad.mit.edu	37	2	170502423	170502423	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:170502423G>C	uc002ufe.2	-	9	1681	c.1587C>G	c.(1585-1587)CTC>CTG	p.L529L		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	529											0						TATAAAAAGGGAGCTGGACTC	0.408		NaN											0	0	0	0.016522	0	25	71									
SPHKAP	80309	broad.mit.edu	37	2	228882660	228882660	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:228882660C>T	uc002vpq.2	-	7	2957	c.2910G>A	c.(2908-2910)ATG>ATA	p.M970I	SPHKAP_uc002vpp.2_Missense_Mutation_p.M970I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M970I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	970						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTTGGGTGTCATCAGAAACT	0.527		NaN											0	0	0	0.016723	0	13	98									
HTR2B	3357	broad.mit.edu	37	2	231978477	231978477	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:231978477G>A	uc002vro.2	-	3	1024	c.519C>T	c.(517-519)TTC>TTT	p.F173F	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	173	Helical; Name=4; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TAATCTTGATGAATGCTGTAG	0.428		NaN											0	0	0	0.016723	0	12	229									
EIF4E2	9470	broad.mit.edu	37	2	233421234	233421234	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:233421234G>C	uc002vta.2	+	2	207	c.129G>C	c.(127-129)AAG>AAC	p.K43N	EIF4E2_uc002vtb.1_Missense_Mutation_p.K43N|EIF4E2_uc002vsz.2_Missense_Mutation_p.K43N|EIF4E2_uc010zmi.1_Missense_Mutation_p.K43N	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	43					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCAGTAGCAAGAGAAAGGTGA	0.408		NaN											0	0	0	0.009096	0	4	23									
GBX2	2637	broad.mit.edu	37	2	237074842	237074842	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:237074842G>T	uc002vvw.1	-	2	800	c.762C>A	c.(760-762)TTC>TTA	p.F254L	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	254	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCTCGCTGGTGAAGGCAGTCC	0.672		NaN											1	0	0.000274275	0.004482	0.000280767	8	61									
NINL	22981	broad.mit.edu	37	20	25472060	25472060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:25472060G>A	uc002wux.1	-	11	1486	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	NINL_uc010gdn.1_Missense_Mutation_p.A471V|NINL_uc010gdo.1_Missense_Mutation_p.A254V|NINL_uc010ztf.1_Missense_Mutation_p.A487V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	471					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CCACTCCAGCGCGGCCCTCTG	0.692		NaN											0	0	0	0.010729	0	10	76									
ZNF334	55713	broad.mit.edu	37	20	45140739	45140739	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:45140739C>T	uc002xsc.2	-	2	187	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TTTTCATTTTCATGTTCTCTT	0.403		NaN											0	0	0	0.004482	0	8	71									
LSS	4047	broad.mit.edu	37	21	47614422	47614422	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr21:47614422C>T	uc002zij.2	-	20	2050	c.1971G>A	c.(1969-1971)ATG>ATA	p.M657I	LSS_uc011afv.1_Missense_Mutation_p.M646I|LSS_uc002zil.2_Missense_Mutation_p.M657I|LSS_uc002zik.2_Missense_Mutation_p.M577I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	657					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CCATCAGCCCCATCATGGCCC	0.632		NaN											0	0	0	0.009096	0	4	34									
ZNF280A	129025	broad.mit.edu	37	22	22869055	22869055	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:22869055G>A	uc002zwe.2	-	2	1153	c.900C>T	c.(898-900)TGC>TGT	p.C300C	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CGCAGCTGAGGCATTTAAAGG	0.413		NaN											0	0	0	0.013726	0	35	179									
NIPSNAP1	8508	broad.mit.edu	37	22	29966488	29966488	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:29966488G>A	uc003afx.3	-	2	205	c.132C>T	c.(130-132)TTC>TTT	p.F44F	NIPSNAP1_uc011akp.1_Silent_p.F24F	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	44								p.?(1)		skin(1)	1						AGAGGGAGCGGAACCAGCTGC	0.552		NaN											0	0	0	0.014758	0	4	32									
SLC5A1	6523	broad.mit.edu	37	22	32506039	32506039	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:32506039C>T	uc003amc.2	+	15	2066	c.1834C>T	c.(1834-1836)CTA>TTA	p.L612L	SLC5A1_uc011alz.1_Silent_p.L485L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	612	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						ATTTTGTGGGCTAGAGCAGCA	0.468		NaN											0	0	0	0.028581	0	15	74									
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44083357C>T	uc003bdy.1	-	11	1351	c.1136G>A	c.(1135-1137)AGA>AAA	p.R379K	EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308		NaN											0	0	0	0.004482	0	9	31									
LDOC1L	84247	broad.mit.edu	37	22	44892894	44892894	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44892894G>C	uc003beu.1	-	2	880	c.543C>G	c.(541-543)CTC>CTG	p.L181L		NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	181										ovary(1)	1		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCGCATGCCGGAGCGGAGACT	0.622		NaN											0	0	0	0.006122	0	19	29									
C3orf20	84077	broad.mit.edu	37	3	14756871	14756871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:14756871G>A	uc003byy.2	+	9	1793	c.1389G>A	c.(1387-1389)TGG>TGA	p.W463*	C3orf20_uc003byz.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bza.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	463						cytoplasm|integral to membrane		p.W463*(1)		ovary(3)|skin(1)	4						TCCACAAGTGGAGCTGGACTT	0.537		NaN											0	0	0	0.02938	0	7	68									
TMPPE	643853	broad.mit.edu	37	3	33134911	33134911	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:33134911G>A	uc003cfk.2	-	2	968	c.777C>T	c.(775-777)GTC>GTT	p.V259V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.V122V	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	259						integral to membrane	metal ion binding				0						CCAGAGGAGCGACAGCCGTCC	0.537		NaN											0	0	0	0.030593	0	24	86									
SCN5A	6331	broad.mit.edu	37	3	38591869	38591869	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:38591869A>G	uc003cio.2	-	28	6188	c.5994T>C	c.(5992-5994)AGT>AGC	p.S1998S	SCN5A_uc003cin.2_Silent_p.S1997S|SCN5A_uc003cil.3_Silent_p.S1998S|SCN5A_uc010hhi.2_Silent_p.S1980S|SCN5A_uc010hhk.2_Silent_p.S1965S|SCN5A_uc011ayr.1_Silent_p.S1944S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1998					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGATCTTCACTGTGGCTGT	0.597		NaN											0	0	0	0.0333	0	15	91									
PHLDB2	90102	broad.mit.edu	37	3	111604194	111604194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:111604194G>A	uc010hqa.2	+	2	1681	c.1270G>A	c.(1270-1272)GAC>AAC	p.D424N	PHLDB2_uc003dyc.2_Missense_Mutation_p.D451N|PHLDB2_uc003dyd.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyg.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyh.2_Missense_Mutation_p.D424N|PHLDB2_uc003dye.3_Missense_Mutation_p.D424N|PHLDB2_uc003dyf.3_Missense_Mutation_p.D424N	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	424						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGGACGTGATGACCTGATGGA	0.522		NaN											0	0	0	0.008291	0	10	113									
PARP9	83666	broad.mit.edu	37	3	122259634	122259634	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:122259634G>A	uc010hri.2	-	8	1700	c.1555C>T	c.(1555-1557)CTG>TTG	p.L519L	PARP9_uc003eff.3_Silent_p.L484L|PARP9_uc011bjs.1_Silent_p.L484L|PARP9_uc003efg.2_Silent_p.L64L|PARP9_uc003efi.2_Silent_p.L484L|PARP9_uc003efh.2_Silent_p.L519L|PARP9_uc003efj.2_Silent_p.L484L	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	519					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		AATCCCATCAGATTGATGGCA	0.438		NaN											0	0	0	0.004482	0	9	161									
COL6A6	131873	broad.mit.edu	37	3	130293317	130293317	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:130293317G>A	uc010htl.2	+	7	3526	c.3495G>A	c.(3493-3495)AAG>AAA	p.K1165K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1165	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATGAACTGAAGAAGGTCAATA	0.463		NaN											0	0	0	0.028581	0	17	61									
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:133524732G>A	uc003epx.1	+	1	56	c.40G>A	c.(40-42)GGT>AGT	p.G14S		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	14						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						AGATGGCGGCGGTGCCGGGGG	0.672		NaN											0	0	0	0.010504	0	21	61									
PLD1	5337	broad.mit.edu	37	3	171404524	171404524	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:171404524G>A	uc003fhs.2	-	16	1934	c.1818C>T	c.(1816-1818)CTC>CTT	p.L606L	PLD1_uc003fht.2_Intron	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	606	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACGGGTGAAAGAGTTTGAAGT	0.368		NaN											0	0	0	0.007413	0	17	185									
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (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).|E -> Q (in cancer).		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.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		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)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.02938	0	6	87									
FXR1	8087	broad.mit.edu	37	3	180675620	180675620	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:180675620A>G	uc003fkq.2	+	10	916	c.894A>G	c.(892-894)GGA>GGG	p.G298G	FXR1_uc003fkp.2_Silent_p.G213G|FXR1_uc003fkr.2_Silent_p.G298G|FXR1_uc011bqj.1_Silent_p.G212G|FXR1_uc003fks.2_Silent_p.G212G|FXR1_uc011bqk.1_Silent_p.G249G|FXR1_uc011bql.1_Silent_p.G285G	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	298	KH 2.				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)			AAGTAATTGGAAAAAATGGCA	0.343		NaN											0	0	0	0.008291	0	10	76									
PTPN13	5783	broad.mit.edu	37	4	87671842	87671842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:87671842C>G	uc003hpz.2	+	18	3350	c.2870C>G	c.(2869-2871)GCT>GGT	p.A957G	PTPN13_uc003hpy.2_Missense_Mutation_p.A957G|PTPN13_uc003hqa.2_Missense_Mutation_p.A957G|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	957						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGACAAAGCTTCATGGGAG	0.423		NaN											0	0	0	0.008291	0	11	32									
SLC25A31	83447	broad.mit.edu	37	4	128651894	128651894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:128651894G>T	uc003ifl.2	+	1	340	c.194G>T	c.(193-195)GGC>GTC	p.G65V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	65	Solcar 1.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						CGGTACAAAGGCATGGTGGAC	0.677		NaN											1	0	0.000602214	0.014758	0.000609258	5	33									
ADAM29	11086	broad.mit.edu	37	4	175899002	175899002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:175899002C>T	uc003iuc.2	+	5	2996	c.2326C>T	c.(2326-2328)CAG>TAG	p.Q776*	ADAM29_uc003iud.2_Nonsense_Mutation_p.Q776*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q776*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q776*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	776	Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|5.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCCTTCTCAGAGTCAACC	0.567		NaN											0	0	0	0.020292	0	14	115									
PRDM9	56979	broad.mit.edu	37	5	23526534	23526534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:23526534G>A	uc003jgo.2	+	11	1519	c.1337G>A	c.(1336-1338)AGC>AAC	p.S446N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	446					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						GATCCACACAGCCGTAATGAC	0.473		NaN								HNSCC(3;0.000094)			0	0	0	0.01441	0	69	67									
PDZD2	23037	broad.mit.edu	37	5	32091004	32091004	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:32091004G>A	uc003jhl.2	+	20	7838	c.7450G>A	c.(7450-7452)GAG>AAG	p.E2484K	PDZD2_uc003jhm.2_Missense_Mutation_p.E2484K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2484					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAAGCTCCAGGAGCTGAGAGC	0.592		NaN											0	0	0	0.010729	0	12	171									
SPINK5	11005	broad.mit.edu	37	5	147481356	147481356	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:147481356G>A	uc003lox.2	+	15	1388	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K	SPINK5_uc010jgs.1_Missense_Mutation_p.E411K|SPINK5_uc010jgr.2_Missense_Mutation_p.E420K|SPINK5_uc003low.2_Missense_Mutation_p.E439K|SPINK5_uc003loy.2_Missense_Mutation_p.E439K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	439	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTGTAGTGAATACCGCAA	0.428		NaN											0	0	0	0.004482	0	8	76									
TBC1D9B	23061	broad.mit.edu	37	5	179290667	179290667	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:179290667G>A	uc003mlh.2	-	22	3571	c.3534C>T	c.(3532-3534)GGC>GGT	p.G1178G	TBC1D9B_uc003mli.2_Silent_p.G1161G|TBC1D9B_uc003mlj.2_Silent_p.G1160G|TBC1D9B_uc003mlf.2_Silent_p.G252G|TBC1D9B_uc003mlg.2_Silent_p.G337G|TBC1D9B_uc011dgv.1_Silent_p.G337G	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1178						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCCGCCCACCAGCA	0.627		NaN											0	0	0	0.010729	0	12	54									
PHACTR1	221692	broad.mit.edu	37	6	13273104	13273104	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:13273104G>C	uc010jpc.2	+	11	1736	c.1404G>C	c.(1402-1404)CAG>CAC	p.Q468H	PHACTR1_uc003nag.1_Missense_Mutation_p.Q468H|PHACTR1_uc003nah.1_Missense_Mutation_p.Q468H|TBC1D7_uc003naj.2_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	468	RPEL 3.					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)			GGCTGAGCCAGAGGCCAACTG	0.458		NaN											0	0	0	0.010504	0	21	289									
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:26188994C>T	uc003ngu.2	-	1	311	c.311G>A	c.(310-312)TGA>TAA	p.*104*		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	104					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537		NaN											0	0	0	0.004482	0	8	61									
NOTCH4	4855	broad.mit.edu	37	6	32163377	32163377	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32163377G>A	uc003obb.2	-	30	5988	c.5849C>T	c.(5848-5850)CCC>CTC	p.P1950L	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P610L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1950	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CCAATCACAGGGCCAGTCATC	0.647		NaN											0	0	0	0.013537	0	13	111									
PSMB8	5696	broad.mit.edu	37	6	32810816	32810816	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32810816C>T	uc003oce.2	-	2	241	c.198G>A	c.(196-198)CAG>CAA	p.Q66Q	PSMB8_uc003ocf.2_Silent_p.Q62Q|PSMB8_uc011dqh.1_Silent_p.Q66Q	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	66					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|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						CCATCTCAATCTGAACGTTCC	0.507		NaN											0	0	0	0.004482	0	7	69									
TDRD6	221400	broad.mit.edu	37	6	46657366	46657366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:46657366G>C	uc003oyj.2	+	1	1501	c.1501G>C	c.(1501-1503)GAG>CAG	p.E501Q	TDRD6_uc010jze.2_Missense_Mutation_p.E495Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	501					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAATCCTTCTGAGTTTTGGAT	0.413		NaN											0	0	0	0.036044	0	45	125									
RTN4IP1	84816	broad.mit.edu	37	6	107067168	107067168	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:107067168G>C	uc003prj.2	-	4	1006	c.529C>G	c.(529-531)CAA>GAA	p.Q177E	RTN4IP1_uc010kdd.2_Missense_Mutation_p.Q177E|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q77E	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	177						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAGGCAGCTTGAGTATGAGTG	0.413		NaN											0	0	0	0.008291	0	10	78									
GPRC6A	222545	broad.mit.edu	37	6	117128203	117128203	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:117128203C>T	uc003pxj.1	-	3	687	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	GPRC6A_uc003pxk.1_Missense_Mutation_p.R222Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R222Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	222	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGAGCCAATCGTCCATAGTC	0.408		NaN											0	0	0	0.016723	0	13	194									
UST	10090	broad.mit.edu	37	6	149262491	149262491	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:149262491G>A	uc003qmg.2	+	3	664	c.368G>A	c.(367-369)AGA>AAA	p.R123K		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	123	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTGCTTCTGAGAATCTTGTCG	0.438		NaN											0	0	0	0.004482	0	9	159									
FKBP14	55033	broad.mit.edu	37	7	30066007	30066007	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30066007G>A	uc003tal.1	-	1	262	c.118C>T	c.(118-120)CGC>TGC	p.R40C	PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TTGGTCTTGCGATGGCAGATG	0.468		NaN											0	0	0	0.004482	0	8	119									
AQP1	358	broad.mit.edu	37	7	30962182	30962182	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30962182G>T	uc003tbv.1	+	3	610	c.553G>T	c.(553-555)GAC>TAC	p.D185Y	AQP1_uc011kac.1_Missense_Mutation_p.D245Y|AQP1_uc010kwf.1_Missense_Mutation_p.D102Y|AQP1_uc010kwg.1_Missense_Mutation_p.D66Y|AQP1_uc010kwh.1_Missense_Mutation_p.D134Y	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	185	Extracellular.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	ctcACAGATTGACTACACTGG	0.313		NaN											1	0	5.26018e-13	0.012319	5.54885e-13	19	307									
AMPH	273	broad.mit.edu	37	7	38431407	38431407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:38431407T>C	uc003tgu.2	-	19	1889	c.1820A>G	c.(1819-1821)GAC>GGC	p.D607G	AMPH_uc003tgv.2_Missense_Mutation_p.D565G|AMPH_uc003tgt.2_Missense_Mutation_p.D492G|AMPH_uc003tgw.1_Missense_Mutation_p.D630G|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	607					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TGCTAGCTGGTCAGCAGCCCC	0.547		NaN											0	0	0	0.02938	0	5	45									
RABGEF1	27342	broad.mit.edu	37	7	66240337	66240337	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:66240337G>A	uc011kee.1	+	3	509	c.345G>A	c.(343-345)GTG>GTA	p.V115V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.V101V|RABGEF1_uc003tvh.2_Silent_p.V101V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	279					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TTACCACAGTGAAGAAATTCT	0.468		NaN											0	0	0	0.021553	0	6	66									
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:100468309C>T	uc003uww.2	+	6	1113	c.943C>T	c.(943-945)CGC>TGC	p.R315C	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	315	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617		NaN											0	0	0	0.02938	0	6	44									
AKR1B15	441282	broad.mit.edu	37	7	134260673	134260673	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:134260673G>A	uc011kpr.1	+	8	1036	c.737G>A	c.(736-738)AGA>AAA	p.R246K	AKR1B15_uc011kps.1_Missense_Mutation_p.R218K	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	246							oxidoreductase activity			ovary(1)	1						TCTCCGGATAGACCTTGGTGA	0.478		NaN											0	0	0	0.009096	0	4	26									
CLCN1	1180	broad.mit.edu	37	7	143018480	143018480	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143018480G>A	uc003wcr.1	+	4	543	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	152	Helical; (By similarity).				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)					CCTACGCGCAGATGCAGCCCA	0.617		NaN											0	0	0	0.021553	0	6	46									
FAM115C	285966	broad.mit.edu	37	7	143421796	143421796	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143421796G>C	uc003wdf.2	+	7	2594	c.2511G>C	c.(2509-2511)CTG>CTC	p.L837L	FAM115C_uc003wdg.2_Silent_p.L556L|FAM115C_uc011ktk.1_Silent_p.L837L|FAM115C_uc003wdh.2_Silent_p.L837L|FAM115C_uc011ktm.1_Silent_p.L837L|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Intron|FAM115C_uc003wdi.1_Intron	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	Error:Variant_position_missing_in_A6NFQ2_after_alignment											0						TACAGGTACTGAGCAGAAATT	0.572		NaN											0	0	0	0.021553	0	4	35									
DPP6	1804	broad.mit.edu	37	7	154680984	154680984	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:154680984G>A	uc003wlk.2	+	24	2436	c.2307G>A	c.(2305-2307)ATG>ATA	p.M769I	DPP6_uc003wli.2_Missense_Mutation_p.M705I|DPP6_uc003wlm.2_Missense_Mutation_p.M707I|DPP6_uc011kvq.1_Missense_Mutation_p.M662I	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	769	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGTGCAGATGACCAAGGTAG	0.537		NaN											0	0	0	0.009096	0	4	24									
PBK	55872	broad.mit.edu	37	8	27667830	27667830	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:27667830C>T	uc003xgi.2	-	8	1162	c.961G>A	c.(961-963)GAT>AAT	p.D321N	ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D332N	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	321	PDZ-interaction.|Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CACTAGACATCTGTTTCCAGA	0.358		NaN											0	0	0	0.02938	0	7	106									
POP1	10940	broad.mit.edu	37	8	99148933	99148933	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:99148933C>G	uc003yij.3	+	8	1335	c.1235C>G	c.(1234-1236)TCT>TGT	p.S412C	POP1_uc011lgv.1_Missense_Mutation_p.S412C|POP1_uc003yik.2_Missense_Mutation_p.S412C	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	412					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTACCATACTCTTGGATCTCT	0.358		NaN											0	0	0	0.00308	0	8	67									
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:125113410C>T	uc003yqw.2	+	38	5162	c.4956C>T	c.(4954-4956)AAC>AAT	p.N1652N	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1652	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGGGCAACTTCAACTGGC	0.433		NaN											0	0	0	0.006214	0	9	79									
ST3GAL1	6482	broad.mit.edu	37	8	134477108	134477108	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:134477108C>T	uc003yuk.2	-	7	1425	c.596G>A	c.(595-597)GGA>GAA	p.G199E	ST3GAL1_uc003yum.2_Missense_Mutation_p.G199E	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	199	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GACATTATCTCCCAGCTCCCG	0.582		NaN											0	0	0	0.024245	0	14	145									
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:33998823C>G	uc003ztq.1	-	3	252	c.139G>C	c.(139-141)GAT>CAT	p.D47H	UBAP2_uc011loc.1_Missense_Mutation_p.D9H|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Missense_Mutation_p.D9H|UBAP2_uc011lof.1_Missense_Mutation_p.D9H|UBAP2_uc011log.1_Missense_Mutation_p.D46H|UBAP2_uc003ztr.2_Missense_Mutation_p.D9H	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	47										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328		NaN											0	0	0	0.0333	0	16	93									
VCP	7415	broad.mit.edu	37	9	35062058	35062058	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35062058C>T	uc003zvy.2	-	9	1412	c.1023G>A	c.(1021-1023)GTG>GTA	p.V341V	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V10V|VCP_uc010mki.1_Silent_p.V296V	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	341					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATAACAATCACATGTGCCC	0.527		NaN											0	0	0	0.016723	0	14	85									
TLN1	7094	broad.mit.edu	37	9	35716479	35716479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35716479C>T	uc003zxt.2	-	20	2887	c.2533G>A	c.(2533-2535)GAG>AAG	p.E845K		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	845					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTTCCCCCTCAGCATCAGCC	0.572		NaN											0	0	0	0.004482	0	9	138									
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:73235278C>T	uc004aid.2	-	15	2051	c.1807G>A	c.(1807-1809)GAT>AAT	p.D603N	TRPM3_uc004ahu.2_Missense_Mutation_p.D433N|TRPM3_uc004ahv.2_Missense_Mutation_p.D405N|TRPM3_uc004ahw.2_Missense_Mutation_p.D475N|TRPM3_uc004ahx.2_Missense_Mutation_p.D462N|TRPM3_uc004ahy.2_Missense_Mutation_p.D465N|TRPM3_uc004ahz.2_Missense_Mutation_p.D452N|TRPM3_uc004aia.2_Missense_Mutation_p.D450N|TRPM3_uc004aib.2_Missense_Mutation_p.D440N|TRPM3_uc004aic.2_Missense_Mutation_p.D603N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	628	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AAGGGAATATCATCCTGTAAT	0.318		NaN											0	0	0	0.010504	0	20	209									
FLJ46321	389763	broad.mit.edu	37	9	84606383	84606383	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:84606383C>T	uc004amn.2	+	4	1045	c.998C>T	c.(997-999)TCT>TTT	p.S333F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	333						integral to membrane					0						CTAGGTGGCTCTGGTGGGTCA	0.483		NaN											0	0	0	0.008291	0	9	161									
TTC16	158248	broad.mit.edu	37	9	130479144	130479144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:130479144G>A	uc004brq.1	+	2	107	c.40G>A	c.(40-42)GGC>AGC	p.G14S	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.G14S|TTC16_uc004brr.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	14							binding				0						GGTTGACCAGGGCCCCTCACG	0.602		NaN											0	0	0	0.00308	0	7	43									
COL5A1	1289	broad.mit.edu	37	9	137655583	137655583	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:137655583C>T	uc004cfe.2	+	20	2416	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	678	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGGGAGCCCGTAAGTCTGT	0.587		NaN											0	0	0	0.00308	0	8	78									
ZBED1	9189	broad.mit.edu	37	X	2407457	2407457	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:2407457T>C	uc004cqg.2	-	2	1505	c.1304A>G	c.(1303-1305)AAC>AGC	p.N435S	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.N435S	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	435						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTTGATGTTGAGCGTGGT	0.587		NaN											0	0	0	0.016723	0	13	88									
MAGIX	79917	broad.mit.edu	37	X	49022469	49022469	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:49022469C>G	uc010nin.1	+	6	783	c.736C>G	c.(736-738)CGC>GGC	p.R246G	MAGIX_uc010nio.1_Missense_Mutation_p.R170G|MAGIX_uc004dmt.2_Missense_Mutation_p.R165G|MAGIX_uc004dmu.2_Missense_Mutation_p.R187G|MAGIX_uc004dmw.2_Missense_Mutation_p.R174G	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	246											0						AACGGGGTCTCGCAGCAGCAG	0.637		NaN											0	0	0	0.014758	0	5	34									
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:152324558_152324559delTG	uc001ezw.3	-	3	5776_5777	c.5703_5704delCA	c.(5701-5706)CACAGCfs	p.H1901fs	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901_1902							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515		NaN											NaN	NaN	NaN	NaN	NaN	7	468	---	---							
