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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
C10orf79	80217	broad.mit.edu	37	10	105903388	105903388	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105903388T>G	uc001kxw.2	-	c.3954A>C	c.(3952-3954)AAA>AAC	p.K1318N	C10orf79_uc009xxq.2_Missense_Mutation_p.K597N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1318											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)										0.222222	33.47071	37.303961	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105903388	105903388	1655	10	T	G	G	G	777	60	C10orf79	4	4
VTI1A	143187	broad.mit.edu	37	10	114428028	114428028	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114428028T>A	uc001kzz.2	+	c.479T>A	c.(478-480)ATA>AAA	p.I160K	VTI1A_uc001kzy.2_Missense_Mutation_p.I160K	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	SNARE Vti1a-beta protein	160	Potential.				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)										0.175676	29.626144	36.974277	13	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114428028	114428028	17804	10	T	A	A	A	637	49	VTI1A	3	3
TCF7L2	6934	broad.mit.edu	37	10	114925681	114925681	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114925681G>T	uc001lae.3	+	c.1759G>T	c.(1759-1761)GCC>TCC	p.A587S	TCF7L2_uc001lac.3_Missense_Mutation_p.A581S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Missense_Mutation_p.A564S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Missense_Mutation_p.A564S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.A519S|TCF7L2_uc010qrs.1_Missense_Mutation_p.A475S|TCF7L2_uc010qrt.1_Missense_Mutation_p.A475S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	604					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|pancreas development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|promoter binding|protein kinase binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)										0.145833	12.091329	17.881937	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114925681	114925681	16224	10	G	T	T	T	546	42	TCF7L2	2	2
ATRNL1	26033	broad.mit.edu	37	10	117040877	117040877	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117040877T>A	uc001lcg.2	+	c.2113T>A	c.(2113-2115)TAC>AAC	p.Y705N		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	705	PSI 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.192982	27.291792	32.306951	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117040877	117040877	1226	10	T	A	A	A	689	53	ATRNL1	3	3
PNLIPRP3	119548	broad.mit.edu	37	10	118203902	118203902	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118203902A>G	uc001lcl.3	+	c.333A>G	c.(331-333)CTA>CTG	p.L111L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	111					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.230769	26.372962	28.950476	9	30	KEEP	---	---	---	---	capture		Silent	SNP	118203902	118203902	12578	10	A	G	G	G	171	14	PNLIPRP3	4	4
NUDT5	11164	broad.mit.edu	37	10	12209745	12209745	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12209745G>T	uc001ilj.2	-	c.616C>A	c.(616-618)CAT>AAT	p.H206N	SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron|NUDT5_uc001ilk.2_3'UTR	NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	nudix-type motif 5	206					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			ovary(1)|pancreas(1)	2		Renal(717;0.228)												0.620805	652.70893	656.516471	185	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12209745	12209745	11147	10	G	T	T	T	624	48	NUDT5	2	2
MKI67	4288	broad.mit.edu	37	10	129907466	129907466	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129907466C>A	uc001lke.2	-	c.2638G>T	c.(2638-2640)GAG>TAG	p.E880*	MKI67_uc001lkf.2_Nonsense_Mutation_p.E520*|MKI67_uc009yav.1_Nonsense_Mutation_p.E455*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E30*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	880					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.292135	144.90678	151.809004	52	126	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129907466	129907466	9988	10	C	A	A	A	416	32	MKI67	5	2
STK32C	282974	broad.mit.edu	37	10	134059451	134059451	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134059451C>A	uc010quu.1	-	c.310G>T	c.(310-312)GAC>TAC	p.D104Y	STK32C_uc001lld.1_5'UTR|STK32C_uc001lle.1_Missense_Mutation_p.D91Y|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	91					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(1)	3		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)						638				0.24	16.163999	17.688426	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134059451	134059451	15819	10	C	A	A	A	403	31	STK32C	1	1
ARMC3	219681	broad.mit.edu	37	10	23292330	23292330	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23292330A>G	uc001irm.3	+	c.1718A>G	c.(1717-1719)TAT>TGT	p.Y573C	ARMC3_uc010qcv.1_Missense_Mutation_p.Y573C|ARMC3_uc010qcw.1_Missense_Mutation_p.Y310C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	573							binding				0														0.452229	257.714928	258.026051	71	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23292330	23292330	970	10	A	G	G	G	208	16	ARMC3	4	4
ZEB1	6935	broad.mit.edu	37	10	31810791	31810791	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31810791A>G	uc001ivu.3	+	c.2531A>G	c.(2530-2532)TAC>TGC	p.Y844C	ZEB1_uc001ivr.3_Missense_Mutation_p.Y625C|ZEB1_uc010qee.1_Missense_Mutation_p.Y625C|ZEB1_uc010qef.1_Missense_Mutation_p.Y625C|ZEB1_uc009xlj.1_Missense_Mutation_p.Y769C|ZEB1_uc010qeg.1_Missense_Mutation_p.Y702C|ZEB1_uc009xlk.1_Missense_Mutation_p.Y625C|ZEB1_uc001ivs.3_Missense_Mutation_p.Y843C|ZEB1_uc001ivt.3_Missense_Mutation_p.Y625C|ZEB1_uc001ivv.3_Missense_Mutation_p.Y823C|ZEB1_uc010qeh.1_Missense_Mutation_p.Y776C|ZEB1_uc009xlo.1_Missense_Mutation_p.Y826C|ZEB1_uc009xlp.2_Missense_Mutation_p.Y827C	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	843					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.517007	276.107975	276.145096	76	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31810791	31810791	18211	10	A	G	G	G	182	14	ZEB1	4	4
ASAH2	56624	broad.mit.edu	37	10	52005145	52005145	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:52005145C>A	uc001jjd.2	-	c.197G>T	c.(196-198)CGC>CTC	p.R66L	ASAH2_uc009xos.2_Missense_Mutation_p.R66L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase 2 isoform a	66	Lumenal (Potential).				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity				0														0.195122	19.477628	23.030326	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52005145	52005145	1025	10	C	A	A	A	351	27	ASAH2	1	1
PCDH15	65217	broad.mit.edu	37	10	55591271	55591271	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55591271C>A	uc010qhy.1	-	c.4021G>T	c.(4021-4023)GAT>TAT	p.D1341Y	PCDH15_uc010qhq.1_Missense_Mutation_p.D1341Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D1348Y|PCDH15_uc010qht.1_Missense_Mutation_p.D1343Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D1336Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1299Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1265Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1314Y|PCDH15_uc001jju.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1314Y	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1336	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.411765	65.063539	65.410926	21	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55591271	55591271	11931	10	C	A	A	A	377	29	PCDH15	2	2
ANK3	288	broad.mit.edu	37	10	61874084	61874084	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61874084T>C	uc001jky.2	-	c.2847A>G	c.(2845-2847)CTA>CTG	p.L949L	ANK3_uc001jkw.2_Silent_p.L83L|ANK3_uc009xpa.2_Silent_p.L83L|ANK3_uc001jkx.2_Silent_p.L127L|ANK3_uc010qih.1_Silent_p.L950L|ANK3_uc001jkz.3_Silent_p.L943L|ANK3_uc001jla.1_Silent_p.L15L|ANK3_uc001jlb.1_Silent_p.L456L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	949					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.135802	23.570668	33.974966	11	70	KEEP	---	---	---	---	capture		Silent	SNP	61874084	61874084	625	10	T	C	C	C	782	61	ANK3	4	4
CDH23	64072	broad.mit.edu	37	10	73376966	73376966	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73376966C>G	uc001jrx.3	+	c.950C>G	c.(949-951)ACG>AGG	p.T317R	CDH23_uc001jrw.3_Missense_Mutation_p.T317R|CDH23_uc009xql.2_Missense_Mutation_p.T362R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	317	Cadherin 3.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.166667	18.768579	23.826201	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73376966	73376966	3237	10	C	G	G	G	247	19	CDH23	3	3
USP54	159195	broad.mit.edu	37	10	75289573	75289573	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75289573C>G	uc001juo.2	-	c.1925G>C	c.(1924-1926)CGG>CCG	p.R642P	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_Non-coding_Transcript|USP54_uc001jun.2_Non-coding_Transcript|USP54_uc001jup.2_Missense_Mutation_p.R642P|USP54_uc010qkl.1_Missense_Mutation_p.R642P	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	642					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(1)|kidney(1)	2	Prostate(51;0.0112)					Colon(195;880 2046 8854 25025 38456)						OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.231214	102.979005	114.469893	40	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75289573	75289573	17649	10	C	G	G	G	299	23	USP54	3	3
TAF3	83860	broad.mit.edu	37	10	8056639	8056639	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8056639G>C	uc010qbd.1	+	c.2715G>C	c.(2713-2715)ATG>ATC	p.M905I		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	905	PHD-type.				maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1														0.3	68.14794	70.649228	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8056639	8056639	16046	10	G	C	C	C	598	46	TAF3	3	3
CDHR1	92211	broad.mit.edu	37	10	85968522	85968522	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85968522C>T	uc001kcv.2	+	c.1205C>T	c.(1204-1206)CCC>CTC	p.P402L	CDHR1_uc001kcw.2_Missense_Mutation_p.P402L|CDHR1_uc009xst.2_Missense_Mutation_p.P161L	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	402	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1														0.238095	25.726944	28.360165	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85968522	85968522	3247	10	C	T	T	T	286	22	CDHR1	2	2
PAPSS2	9060	broad.mit.edu	37	10	89475536	89475536	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89475536C>G	uc001kew.2	+	c.801C>G	c.(799-801)CCC>CCG	p.P267P	PAPSS2_uc001kex.2_Silent_p.P267P|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_001015880	NP_001015880	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	267	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)	1		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)										0.109375	6.37447	16.049216	7	57	KEEP	---	---	---	---	capture		Silent	SNP	89475536	89475536	11852	10	C	G	G	G	275	22	PAPSS2	3	3
CYP26A1	1592	broad.mit.edu	37	10	94834752	94834752	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94834752G>T	uc001kil.2	+	c.631G>T	c.(631-633)GTG>TTG	p.V211L	CYP26A1_uc001kik.1_Missense_Mutation_p.V142L|CYP26A1_uc001kim.1_Missense_Mutation_p.V109L	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	211					negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			ovary(1)|breast(1)	2		Colorectal(252;0.122)												0.16	8.983751	11.735367	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94834752	94834752	4320	10	G	T	T	T	624	48	CYP26A1	2	2
CEP55	55165	broad.mit.edu	37	10	95263113	95263113	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95263113G>C	uc009xug.2	+	c.427G>C	c.(427-429)GAA>CAA	p.E143Q	CEP55_uc001kiq.3_Missense_Mutation_p.E143Q	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	143	Potential.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)												0.228188	103.369853	113.469049	34	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95263113	95263113	3388	10	G	C	C	C	585	45	CEP55	3	3
CWF19L2	143884	broad.mit.edu	37	11	107207336	107207336	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107207336T>G	uc010rvp.1	-	c.2306A>C	c.(2305-2307)GAA>GCA	p.E769A	CWF19L2_uc001pjh.3_Non-coding_Transcript|CWF19L2_uc009yxo.2_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	769							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)										0.369565	117.028911	118.403527	34	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107207336	107207336	4232	11	T	G	G	G	806	62	CWF19L2	4	4
NPAT	4863	broad.mit.edu	37	11	108040747	108040747	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108040747G>C	uc001pjz.3	-	c.2809C>G	c.(2809-2811)CCA>GCA	p.P937A	NPAT_uc010rvv.1_5'UTR	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	937					regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.466346	362.065802	362.270415	97	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108040747	108040747	10970	11	G	C	C	C	533	41	NPAT	3	3
ZC3H12C	85463	broad.mit.edu	37	11	110035851	110035851	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110035851C>T	uc010rwc.1	+	c.2044C>T	c.(2044-2046)CAC>TAC	p.H682Y	ZC3H12C_uc009yxw.2_Missense_Mutation_p.H681Y|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H682Y|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H650Y	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	681							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)										0.117359	65.609678	124.487076	48	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110035851	110035851	18151	11	C	T	T	T	273	21	ZC3H12C	2	2
FAM55D	54827	broad.mit.edu	37	11	114453150	114453150	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114453150G>C	uc001ppc.2	-	c.690C>G	c.(688-690)TGC>TGG	p.C230W	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	230						extracellular region				ovary(2)	2		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)										0.102845	59.963961	131.795194	47	410	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114453150	114453150	5809	11	G	C	C	C	542	42	FAM55D	3	3
DSCAML1	57453	broad.mit.edu	37	11	117308768	117308768	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117308768G>T	uc001prh.1	-	c.4455C>A	c.(4453-4455)AGC>AGA	p.S1485R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.56	193.08743	193.398669	56	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117308768	117308768	4953	11	G	T	T	T	490	38	DSCAML1	1	1
IL10RA	3587	broad.mit.edu	37	11	117870171	117870171	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117870171C>A	uc001prv.2	+	c.1552C>A	c.(1552-1554)CAG>AAG	p.Q518K	IL10RA_uc010rxl.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxm.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxn.1_Missense_Mutation_p.Q369K|IL10RA_uc001prw.2_Missense_Mutation_p.Q369K	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	518	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)										0.558824	63.324371	63.426281	19	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117870171	117870171	7921	11	C	A	A	A	273	21	IL10RA	2	2
FOXR1	283150	broad.mit.edu	37	11	118851198	118851198	+	Splice_Site_SNP	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118851198A>G	uc001pui.2	+	c.612_splice	c.e5-2	p.R204_splice	FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Splice_Site_SNP_p.R35_splice	NM_181721	NP_859072			forkhead box R1						embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)										0.429907	163.150213	163.604927	46	61	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118851198	118851198	6277	11	A	G	G	G	195	15	FOXR1	5	4
DPAGT1	1798	broad.mit.edu	37	11	118971090	118971090	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118971090C>A	uc001pvi.2	-	c.525G>T	c.(523-525)CTG>CTT	p.L175L	DPAGT1_uc001pvj.2_Silent_p.L68L|DPAGT1_uc009zaq.2_Non-coding_Transcript|DPAGT1_uc001pvk.2_Silent_p.L3L|DPAGT1_uc010ryz.1_Silent_p.L175L|DPAGT1_uc001pvm.1_Silent_p.L68L|DPAGT1_uc010rza.1_Silent_p.L68L	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	175	Helical; (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)								OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.189189	49.605775	59.639263	21	90	KEEP	---	---	---	---	capture		Silent	SNP	118971090	118971090	4894	11	C	A	A	A	314	25	DPAGT1	2	2
HSPA8	3312	broad.mit.edu	37	11	122930824	122930824	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122930824C>T	uc001pyo.2	-	c.564G>A	c.(562-564)AAG>AAA	p.K188K	HSPA8_uc009zbc.2_5'UTR|HSPA8_uc001pyp.2_Silent_p.K188K|HSPA8_uc010rzu.1_Silent_p.K111K|HSPA8_uc009zbd.1_Silent_p.K188K|HSPA8_uc010rzv.1_Silent_p.K188K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	188	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding|transcription repressor activity			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		Colon(21;486 594 5900 6733 14272)								0.109244	18.482435	36.48057	13	106	KEEP	---	---	---	---	capture		Silent	SNP	122930824	122930824	7715	11	C	T	T	T	311	24	HSPA8	2	2
OR10G4	390264	broad.mit.edu	37	11	123887150	123887150	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123887150G>A	uc010sac.1	+	c.869G>A	c.(868-870)AGA>AAA	p.R290K		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	290	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.441048	330.551181	331.243588	101	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123887150	123887150	11307	11	G	A	A	A	429	33	OR10G4	2	2
ST14	6768	broad.mit.edu	37	11	130058061	130058061	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130058061A>G	uc001qfw.2	+	c.134A>G	c.(133-135)AAG>AGG	p.K45R	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	45	Cytoplasmic (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)									0.375	49.415227	49.963914	15	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130058061	130058061	15729	11	A	G	G	G	39	3	ST14	4	4
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134240907C>G	uc001qhp.2	+	c.1221C>G	c.(1219-1221)ATC>ATG	p.I407M	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)	2	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)										0.154185	75.876983	101.82571	35	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134240907	134240907	6697	11	C	G	G	G	369	29	GLB1L2	3	3
FSHB	2488	broad.mit.edu	37	11	30255202	30255202	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30255202C>A	uc001msl.2	+	c.245C>A	c.(244-246)CCC>CAC	p.P82H	FSHB_uc001msm.2_Missense_Mutation_p.P82H|FSHB_uc001msn.2_Missense_Mutation_p.P82H	NM_000510	NP_000501	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	82					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			ovary(3)	3					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)									0.196721	54.723724	65.184247	24	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30255202	30255202	6323	11	C	A	A	A	286	22	FSHB	2	2
DCDC1	341019	broad.mit.edu	37	11	31312213	31312214	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31312213_31312214CC>AA	uc001msv.2	-	c.940_941GG>TT	c.(940-942)GGA>TTA	p.G314L	DCDC1_uc001msu.1_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	314					intracellular signal transduction						0	Lung SC(675;0.225)													0.222222	28.174373	32.008941	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31312213	31312214	4455	11	CC	AA	AA	AA	390	30	DCDC1	2	2
WT1	7490	broad.mit.edu	37	11	32413610	32413610	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32413610C>A	uc001mtn.1	-	c.1340G>T	c.(1339-1341)GGT>GTT	p.G447V	WT1_uc001mtl.1_Missense_Mutation_p.G235V|WT1_uc001mtm.1_Missense_Mutation_p.G218V|WT1_uc001mto.1_Missense_Mutation_p.G447V|WT1_uc001mtp.1_Missense_Mutation_p.G430V|WT1_uc001mtq.1_Missense_Mutation_p.G430V|WT1_uc009yjs.1_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	379	Important for interaction with target DNA.		G -> C (in NPHS4).		adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding	p.G379V(2)|p.V380_S410del(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.298851	289.757881	302.345543	104	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32413610	32413610	17982	11	C	A	A	A	234	18	WT1	2	2
C11orf41	25758	broad.mit.edu	37	11	33628193	33628193	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33628193C>T	uc001mup.3	+	c.4013C>T	c.(4012-4014)GCG>GTG	p.A1338V		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1332						integral to membrane				ovary(2)	2														0.110204	28.613539	65.391871	27	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33628193	33628193	1679	11	C	T	T	T	351	27	C11orf41	1	1
SLC1A2	6506	broad.mit.edu	37	11	35333830	35333830	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35333830T>C	uc001mwd.2	-	c.476A>G	c.(475-477)AAT>AGT	p.N159S	SLC1A2_uc001mwe.2_Missense_Mutation_p.N150S|SLC1A2_uc010rev.1_Missense_Mutation_p.N159S	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	159	Extracellular (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)								0.108173	62.961237	126.273991	45	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35333830	35333830	14928	11	T	C	C	C	676	52	SLC1A2	4	4
OR51E1	143503	broad.mit.edu	37	11	4674113	4674113	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4674113G>T	uc001lzi.3	+	c.357G>T	c.(355-357)CTG>CTT	p.L119L		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.156607	193.894865	262.882318	96	517	KEEP	---	---	---	---	capture		Silent	SNP	4674113	4674113	11504	11	G	T	T	T	600	47	OR51E1	2	2
MADD	8567	broad.mit.edu	37	11	47314115	47314115	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47314115A>C	uc001ner.1	+	c.3383A>C	c.(3382-3384)GAA>GCA	p.E1128A	MADD_uc001neq.2_Intron|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Intron|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Missense_Mutation_p.E1128A|MADD_uc001nez.2_Intron|MADD_uc001new.2_Intron|MADD_uc009ylo.2_Missense_Mutation_p.E46A	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1128					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10				Lung(87;0.182)						5				0.316667	65.406034	67.197889	19	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47314115	47314115	9529	11	A	C	C	C	117	9	MADD	4	4
HBD	3045	broad.mit.edu	37	11	5255426	5255426	+	Missense_Mutation	SNP	G	T	T	rs34383555		TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5255426G>T	uc001maf.1	-	c.110C>A	c.(109-111)CCT>CAT	p.P37H		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	37					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)						3				0.260417	211.295927	226.258908	75	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5255426	5255426	7261	11	G	T	T	T	455	35	HBD	2	2
OR4A15	81328	broad.mit.edu	37	11	55136184	55136184	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136184C>A	uc010rif.1	+	c.825C>A	c.(823-825)GTC>GTA	p.V275V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	275	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.263529	295.784471	317.292271	112	313	KEEP	---	---	---	---	capture		Silent	SNP	55136184	55136184	11446	11	C	A	A	A	366	29	OR4A15	2	2
OR8K5	219453	broad.mit.edu	37	11	55927514	55927514	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55927514A>T	uc010rja.1	-	c.280T>A	c.(280-282)TAT>AAT	p.Y94N		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.322314	229.648663	236.442401	78	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55927514	55927514	11656	11	A	T	T	T	195	15	OR8K5	3	3
FAM111B	374393	broad.mit.edu	37	11	58891882	58891882	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58891882C>A	uc001nnl.2	+	c.312C>A	c.(310-312)AGC>AGA	p.S104R	FAM111B_uc001nnm.2_Missense_Mutation_p.S74R|FAM111B_uc010rko.1_Missense_Mutation_p.S74R	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	104				S -> G (in Ref. 3; AAH62456).			catalytic activity			ovary(2)	2														0.378698	208.39318	210.597207	64	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58891882	58891882	5597	11	C	A	A	A	350	27	FAM111B	1	1
OR5A2	219981	broad.mit.edu	37	11	59190132	59190132	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59190132C>G	uc010rkt.1	-	c.295G>C	c.(295-297)GCC>CCC	p.A99P		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.415301	265.971849	267.117323	76	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59190132	59190132	11550	11	C	G	G	G	325	25	OR5A2	3	3
MS4A7	58475	broad.mit.edu	37	11	60150636	60150636	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60150636A>G	uc001npe.2	+	c.22A>G	c.(22-24)ATG>GTG	p.M8V	MS4A7_uc001npf.2_Missense_Mutation_p.M8V|MS4A7_uc001npg.2_Missense_Mutation_p.M8V|MS4A7_uc001nph.2_Missense_Mutation_p.M8V|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.M8V	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	8	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.220447	173.606422	196.127934	69	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60150636	60150636	10259	11	A	G	G	G	104	8	MS4A7	4	4
OR56A4	120793	broad.mit.edu	37	11	6024118	6024118	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6024118G>T	uc010qzv.1	-	c.261C>A	c.(259-261)AGC>AGA	p.S87R		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.43956	122.280967	122.571582	40	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6024118	6024118	11545	11	G	T	T	T	542	42	OR56A4	2	2
DDB1	1642	broad.mit.edu	37	11	61077340	61077340	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61077340C>T	uc001nrc.3	-	c.2494G>A	c.(2494-2496)GGC>AGC	p.G832S	DDB1_uc010rle.1_Missense_Mutation_p.G143S|DDB1_uc010rlf.1_Missense_Mutation_p.G832S	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	832	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.12766	20.734248	33.438368	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61077340	61077340	4494	11	C	T	T	T	286	22	DDB1	2	2
OR52B2	255725	broad.mit.edu	37	11	6190952	6190952	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6190952A>G	uc010qzy.1	-	c.605T>C	c.(604-606)TTC>TCC	p.F202S		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		NSCLC(5;186 261 1778 7098 14207)								0.322259	323.176219	331.616465	97	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6190952	6190952	11521	11	A	G	G	G	117	9	OR52B2	4	4
DCHS1	8642	broad.mit.edu	37	11	6661983	6661983	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6661983C>A	uc001mem.1	-	c.862G>T	c.(862-864)GGG>TGG	p.G288W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	288	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.307692	82.064868	85.065422	28	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6661983	6661983	4458	11	C	A	A	A	273	21	DCHS1	2	2
MRPL17	63875	broad.mit.edu	37	11	6704014	6704014	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6704014G>C	uc001men.2	-	c.207C>G	c.(205-207)AAC>AAG	p.N69K		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17 precursor	69					translation	ribosome	protein domain specific binding|structural constituent of ribosome				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.127119	28.844126	44.841425	15	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6704014	6704014	10175	11	G	C	C	C	516	40	MRPL17	3	3
OR6A2	8590	broad.mit.edu	37	11	6816486	6816486	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6816486C>A	uc001mes.1	-	c.454G>T	c.(454-456)GGC>TGC	p.G152C		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|pancreas(1)	4		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.489933	235.964634	235.977937	73	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6816486	6816486	11596	11	C	A	A	A	273	21	OR6A2	2	2
KRTAP5-11	440051	broad.mit.edu	37	11	71293630	71293630	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71293630G>A	uc001oqu.2	-	c.254C>T	c.(253-255)TCC>TTC	p.S85F		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	85	6 X 4 AA repeats of C-C-X-P.					keratin filament					0														0.183333	47.994572	59.278381	22	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71293630	71293630	8882	11	G	A	A	A	533	41	KRTAP5-11	2	2
C2CD3	26005	broad.mit.edu	37	11	73825446	73825446	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73825446C>T	uc001ouu.2	-	c.1713G>A	c.(1711-1713)GTG>GTA	p.V571V	C2CD3_uc001ouv.2_Silent_p.V571V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571										ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.290909	47.178161	49.331982	16	39	KEEP	---	---	---	---	capture		Silent	SNP	73825446	73825446	2237	11	C	T	T	T	366	29	C2CD3	2	2
NARS2	79731	broad.mit.edu	37	11	78204159	78204159	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78204159T>C	uc001ozi.2	-	c.772A>G	c.(772-774)ATG>GTG	p.M258V	NARS2_uc010rsq.1_Missense_Mutation_p.M31V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	258					asparaginyl-tRNA aminoacylation|aspartyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)									0.430556	219.93572	220.539894	62	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78204159	78204159	10567	11	T	C	C	C	637	49	NARS2	4	4
OR10A3	26496	broad.mit.edu	37	11	7961052	7961052	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7961052G>A	uc010rbi.1	-	c.16C>T	c.(16-18)CAA>TAA	p.Q6*		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.229299	91.412839	101.966174	36	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7961052	7961052	11297	11	G	A	A	A	585	45	OR10A3	5	2
DLG2	1740	broad.mit.edu	37	11	83173087	83173087	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83173087G>C	uc001pak.2	-	c.2779C>G	c.(2779-2781)CGA>GGA	p.R927G	DLG2_uc001pai.2_Missense_Mutation_p.R701G|DLG2_uc010rsy.1_Missense_Mutation_p.R771G|DLG2_uc001paj.2_Missense_Mutation_p.R822G|DLG2_uc010rsz.1_Missense_Mutation_p.R818G|DLG2_uc010rta.1_Missense_Mutation_p.R804G|DLG2_uc010rtb.1_Missense_Mutation_p.R789G|DLG2_uc010rsw.1_Missense_Mutation_p.R286G|DLG2_uc010rsx.1_Missense_Mutation_p.R299G	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	822	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.156627	30.522884	39.859269	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83173087	83173087	4735	11	G	C	C	C	480	37	DLG2	3	3
PIWIL4	143689	broad.mit.edu	37	11	94322291	94322291	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94322291A>G	uc001pfa.2	+	c.919A>G	c.(919-921)AAT>GAT	p.N307D	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.1_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	307	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.209459	138.378789	161.514891	62	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94322291	94322291	12384	11	A	G	G	G	65	5	PIWIL4	4	4
SLC5A8	160728	broad.mit.edu	37	12	101560478	101560478	+	Splice_Site_SNP	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101560478C>A	uc001thz.3	-	c.1321_splice	c.e12-1	p.G441_splice		NM_145913	NP_666018			solute carrier family 5 (iodide transporter),						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.178571	11.157114	13.880435	5	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101560478	101560478	15168	12	C	A	A	A	312	24	SLC5A8	5	2
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101576622G>A	uc001thz.3	-	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	375	Cytoplasmic (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.227586	90.198974	100.072331	33	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101576622	101576622	15168	12	G	A	A	A	481	37	SLC5A8	1	1
STAB2	55576	broad.mit.edu	37	12	104098343	104098343	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104098343G>A	uc001tjw.2	+	c.3851G>A	c.(3850-3852)TGT>TAT	p.C1284Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1284	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.212766	24.522238	28.106752	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104098343	104098343	15756	12	G	A	A	A	624	48	STAB2	2	2
KIAA1033	23325	broad.mit.edu	37	12	105538144	105538144	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105538144G>T	uc010swr.1	+	c.2093G>T	c.(2092-2094)CGA>CTA	p.R698L	KIAA1033_uc001tld.2_Missense_Mutation_p.R697L|KIAA1033_uc010sws.1_Missense_Mutation_p.R509L	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	697					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.179104	27.659313	34.150639	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105538144	105538144	8513	12	G	T	T	T	481	37	KIAA1033	1	1
CMKLR1	1240	broad.mit.edu	37	12	108686656	108686656	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686656C>T	uc009zuw.2	-	c.84G>A	c.(82-84)TTG>TTA	p.L28L	CMKLR1_uc001tmw.2_Silent_p.L28L|CMKLR1_uc001tmv.2_Silent_p.L26L|CMKLR1_uc009zuv.2_Silent_p.L28L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	28	Extracellular (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.147541	32.666285	47.225659	18	104	KEEP	---	---	---	---	capture		Silent	SNP	108686656	108686656	3717	12	C	T	T	T	272	21	CMKLR1	2	2
HVCN1	84329	broad.mit.edu	37	12	111099066	111099066	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111099066G>A	uc001trs.1	-	c.209C>T	c.(208-210)GCA>GTA	p.A70V	HVCN1_uc001trq.1_Missense_Mutation_p.A70V|HVCN1_uc001trt.1_Missense_Mutation_p.A70V|HVCN1_uc010syd.1_Missense_Mutation_p.A50V	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	70	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity				0														0.15	19.14211	28.54384	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111099066	111099066	7762	12	G	A	A	A	598	46	HVCN1	2	2
DHX37	57647	broad.mit.edu	37	12	125435313	125435313	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125435313C>A	uc001ugy.2	-	c.2906G>T	c.(2905-2907)AGC>ATC	p.S969I	DHX37_uc001ugz.1_Missense_Mutation_p.S56I	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	969							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)										0.64497	347.960965	351.076223	109	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125435313	125435313	4689	12	C	A	A	A	364	28	DHX37	2	2
ANKLE2	23141	broad.mit.edu	37	12	133331681	133331681	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133331681G>C	uc001ukx.2	-	c.220C>G	c.(220-222)CTT>GTT	p.L74V	ANKLE2_uc001uky.3_Missense_Mutation_p.L12V	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	74	LEM.					cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)										0.146667	20.963191	29.983881	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133331681	133331681	636	12	G	C	C	C	468	36	ANKLE2	3	3
FAR2	55711	broad.mit.edu	37	12	29486613	29486613	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29486613C>T	uc001ris.3	+	c.1434C>T	c.(1432-1434)GCC>GCT	p.A478A	FAR2_uc001rit.2_Silent_p.A478A|FAR2_uc009zjm.2_Silent_p.A381A	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	478	Helical; (Potential).				ether lipid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0														0.206081	156.398379	180.114085	61	235	KEEP	---	---	---	---	capture		Silent	SNP	29486613	29486613	5911	12	C	T	T	T	301	24	FAR2	2	2
KIF21A	55605	broad.mit.edu	37	12	39716581	39716581	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39716581G>A	uc001rly.2	-	c.3560C>T	c.(3559-3561)ACA>ATA	p.T1187I	KIF21A_uc001rlv.2_Missense_Mutation_p.T192I|KIF21A_uc001rlw.2_Missense_Mutation_p.T504I|KIF21A_uc001rlx.2_Missense_Mutation_p.T1174I|KIF21A_uc001rlz.2_Missense_Mutation_p.T1151I|KIF21A_uc010skl.1_Missense_Mutation_p.T1167I	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1187					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.097518	36.385888	127.898217	55	509	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39716581	39716581	8599	12	G	A	A	A	624	48	KIF21A	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43856734	43856734	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43856734C>T	uc010skx.1	-	c.1578G>A	c.(1576-1578)GTG>GTA	p.V526V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	526	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.294118	27.23692	28.526504	10	24	KEEP	---	---	---	---	capture		Silent	SNP	43856734	43856734	267	12	C	T	T	T	314	25	ADAMTS20	2	2
DBX2	440097	broad.mit.edu	37	12	45410296	45410296	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45410296G>T	uc001rok.1	-	c.793C>A	c.(793-795)CTC>ATC	p.L265I		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	265					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)										0.214612	118.796031	135.271914	47	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45410296	45410296	4431	12	G	T	T	T	455	35	DBX2	2	2
TMEM106C	79022	broad.mit.edu	37	12	48358151	48358151	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48358151C>T	uc001rqp.2	+	c.132C>T	c.(130-132)ACC>ACT	p.T44T	TMEM106C_uc001rqo.2_Silent_p.T44T|TMEM106C_uc001rqr.2_Silent_p.T44T|TMEM106C_uc001rqq.2_Silent_p.T44T	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	44						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)										0.421488	167.608819	168.258309	51	70	KEEP	---	---	---	---	capture		Silent	SNP	48358151	48358151	16552	12	C	T	T	T	288	23	TMEM106C	1	1
COL2A1	1280	broad.mit.edu	37	12	48376677	48376677	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48376677T>C	uc001rqu.2	-	c.2147A>G	c.(2146-2148)CAG>CGG	p.Q716R	COL2A1_uc009zkw.2_Non-coding_Transcript|COL2A1_uc001rqv.2_Missense_Mutation_p.Q647R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	716	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.410256	49.691549	49.966223	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48376677	48376677	3825	12	T	C	C	C	715	55	COL2A1	4	4
WNT10B	7480	broad.mit.edu	37	12	49362003	49362003	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49362003C>A	uc001rss.2	-	c.437G>T	c.(436-438)TGT>TTT	p.C146F	WNT10B_uc001rst.2_Missense_Mutation_p.C146F	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	146					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(2)	2														0.45283	79.394343	79.497017	24	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49362003	49362003	17957	12	C	A	A	A	221	17	WNT10B	2	2
TROAP	10024	broad.mit.edu	37	12	49719372	49719372	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49719372G>T	uc009zlh.2	+	c.426G>T	c.(424-426)GGG>GGT	p.G142G	TROAP_uc001rtx.3_Silent_p.G142G|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	142					cell adhesion	cytoplasm				ovary(1)	1														0.15625	17.303717	24.529459	10	54	KEEP	---	---	---	---	capture		Silent	SNP	49719372	49719372	17126	12	G	T	T	T	535	42	TROAP	2	2
NCKAP1L	3071	broad.mit.edu	37	12	54925558	54925558	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54925558C>G	uc001sgc.3	+	c.2730C>G	c.(2728-2730)ATC>ATG	p.I910M	NCKAP1L_uc010sox.1_Missense_Mutation_p.I452M|NCKAP1L_uc010soy.1_Missense_Mutation_p.I860M	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	910					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														0.166667	24.509182	30.832355	10	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54925558	54925558	10621	12	C	G	G	G	369	29	NCKAP1L	3	3
SLC35E3	55508	broad.mit.edu	37	12	69140237	69140237	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69140237G>T	uc001suh.2	+	c.80G>T	c.(79-81)TGC>TTC	p.C27F		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	27	Helical; (Potential).					integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)											0.322581	57.978308	59.711183	20	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69140237	69140237	15083	12	G	T	T	T	598	46	SLC35E3	2	2
PTPRR	5801	broad.mit.edu	37	12	71139815	71139815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71139815C>A	uc001swi.1	-	c.790G>T	c.(790-792)GAG>TAG	p.E264*	PTPRR_uc001swh.1_Nonsense_Mutation_p.E19*|PTPRR_uc009zrs.2_Nonsense_Mutation_p.E113*|PTPRR_uc010stq.1_Nonsense_Mutation_p.E152*|PTPRR_uc010str.1_Nonsense_Mutation_p.E113*	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	264	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)										0.248227	91.952007	100.085214	35	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71139815	71139815	13268	12	C	A	A	A	416	32	PTPRR	5	2
KCNC2	3747	broad.mit.edu	37	12	75444633	75444633	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75444633C>A	uc001sxg.1	-	c.1152G>T	c.(1150-1152)CTG>CTT	p.L384L	KCNC2_uc009zry.2_Silent_p.L384L|KCNC2_uc001sxe.2_Silent_p.L384L|KCNC2_uc001sxf.2_Silent_p.L384L|KCNC2_uc010stw.1_Silent_p.L384L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	384	Helical; Name=Segment S5; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.230769	16.436058	18.163191	6	20	KEEP	---	---	---	---	capture		Silent	SNP	75444633	75444633	8320	12	C	A	A	A	314	25	KCNC2	2	2
OSBPL8	114882	broad.mit.edu	37	12	76786490	76786490	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76786490G>A	uc001sye.1	-	c.800C>T	c.(799-801)TCT>TTT	p.S267F	OSBPL8_uc001syf.1_Missense_Mutation_p.S225F|OSBPL8_uc001syg.1_Missense_Mutation_p.S225F|OSBPL8_uc001syh.1_Missense_Mutation_p.S242F	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	267					lipid transport		lipid binding			ovary(1)	1														0.138889	27.548001	41.16031	15	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76786490	76786490	11694	12	G	A	A	A	429	33	OSBPL8	2	2
MGAT4C	25834	broad.mit.edu	37	12	86373677	86373677	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:86373677A>G	uc010sum.1	-	c.899T>C	c.(898-900)TTA>TCA	p.L300S	MGAT4C_uc001tal.3_Missense_Mutation_p.L276S|MGAT4C_uc001taj.3_Missense_Mutation_p.L276S|MGAT4C_uc001tak.3_Missense_Mutation_p.L276S|MGAT4C_uc001tai.3_Missense_Mutation_p.L276S|MGAT4C_uc001tah.3_Missense_Mutation_p.L276S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	276	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3														0.320755	55.35763	56.869688	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86373677	86373677	9937	12	A	G	G	G	169	13	MGAT4C	4	4
PZP	5858	broad.mit.edu	37	12	9344799	9344799	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9344799C>A	uc001qvl.2	-	c.1536G>T	c.(1534-1536)GAG>GAT	p.E512D	PZP_uc009zgl.2_Missense_Mutation_p.E381D	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.386719	316.765004	319.644795	99	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9344799	9344799	13327	12	C	A	A	A	259	20	PZP	2	2
WNK1	65125	broad.mit.edu	37	12	970256	970256	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:970256G>C	uc001qio.3	+	c.1698G>C	c.(1696-1698)AAG>AAC	p.K566N	WNK1_uc001qip.3_Missense_Mutation_p.K566N|WNK1_uc001qir.3_Missense_Mutation_p.K13N	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	566					intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			Colon(19;451 567 6672 12618 28860)				913				0.142415	95.430056	135.239781	46	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	970256	970256	17951	12	G	C	C	C	425	33	WNK1	3	3
SLC10A2	6555	broad.mit.edu	37	13	103703714	103703714	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103703714G>T	uc001vpy.3	-	c.654C>A	c.(652-654)AGC>AGA	p.S218R		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	218	Cytoplasmic (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.573171	164.736162	165.1188	47	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103703714	103703714	14869	13	G	T	T	T	490	38	SLC10A2	1	1
FRY	10129	broad.mit.edu	37	13	32776615	32776615	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32776615A>T	uc001utx.2	+	c.3969A>T	c.(3967-3969)TCA>TCT	p.S1323S	FRY_uc010tdw.1_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.371429	127.905469	129.427491	39	66	KEEP	---	---	---	---	capture		Silent	SNP	32776615	32776615	6313	13	A	T	T	T	93	8	FRY	3	3
DCLK1	9201	broad.mit.edu	37	13	36700141	36700141	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36700141C>A	uc001uvf.2	-	c.134G>T	c.(133-135)CGC>CTC	p.R45L		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|protein phosphorylation|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(4)|ovary(2)	6		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)						453				0.454545	109.818812	109.956933	35	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36700141	36700141	4462	13	C	A	A	A	351	27	DCLK1	1	1
SPG20	23111	broad.mit.edu	37	13	36909952	36909952	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36909952G>C	uc001uvn.2	-	c.16C>G	c.(16-18)CAA>GAA	p.Q6E	SPG20_uc010ten.1_Missense_Mutation_p.Q6E|SPG20_uc001uvm.2_Missense_Mutation_p.Q6E|SPG20_uc001uvo.2_Missense_Mutation_p.Q6E|SPG20_uc001uvq.2_Missense_Mutation_p.Q6E|SPG20_uc001uvp.2_Missense_Mutation_p.Q6E	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	6					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)										0.277108	73.288481	76.999654	23	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36909952	36909952	15554	13	G	C	C	C	624	48	SPG20	3	3
TRPC4	7223	broad.mit.edu	37	13	38266459	38266459	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38266459G>T	uc010abx.2	-	c.911C>A	c.(910-912)CCC>CAC	p.P304H	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.P304H|TRPC4_uc001uws.2_Missense_Mutation_p.P304H|TRPC4_uc010tey.1_Missense_Mutation_p.P304H|TRPC4_uc010abw.2_Missense_Mutation_p.P131H|TRPC4_uc010aby.2_Missense_Mutation_p.P304H	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	304	Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.55	74.854297	74.941368	22	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38266459	38266459	17131	13	G	T	T	T	559	43	TRPC4	2	2
EDNRB	1910	broad.mit.edu	37	13	78492316	78492316	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78492316G>C	uc001vkp.1	-	c.642C>G	c.(640-642)TGC>TGG	p.C214W	EDNRB_uc001vkq.1_Missense_Mutation_p.C131W|EDNRB_uc001vko.2_Missense_Mutation_p.C131W|EDNRB_uc010aez.1_Missense_Mutation_p.C131W|EDNRB_uc010afa.1_Missense_Mutation_p.C131W	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	131	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron maturation|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)					117				0.722222	296.393487	301.19051	78	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78492316	78492316	5107	13	G	C	C	C	594	46	EDNRB	3	3
PPP1R13B	23368	broad.mit.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104251168G>A	uc001yof.1	-	c.241C>T	c.(241-243)CGA>TGA	p.R81*	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	81					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)												0.207547	27.796274	31.994942	11	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	104251168	104251168	12792	14	G	A	A	A	480	37	PPP1R13B	5	1
OR4K2	390431	broad.mit.edu	37	14	20345048	20345048	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20345048T>A	uc001vwh.1	+	c.622T>A	c.(622-624)TTG>ATG	p.L208M		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.126984	94.080951	162.457614	64	440	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20345048	20345048	11482	14	T	A	A	A	777	60	OR4K2	3	3
TEP1	7011	broad.mit.edu	37	14	20859894	20859894	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20859894C>G	uc001vxe.2	-	c.1961G>C	c.(1960-1962)AGG>ACG	p.R654T	TEP1_uc010ahk.2_Missense_Mutation_p.R4T|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R546T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	654	TROVE.				telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.185185	142.885448	173.019707	60	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20859894	20859894	16286	14	C	G	G	G	312	24	TEP1	3	3
JUB	84962	broad.mit.edu	37	14	23445718	23445718	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23445718A>T	uc001whz.2	-	c.1186T>A	c.(1186-1188)TTT>ATT	p.F396I	JUB_uc001why.2_5'UTR	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	396	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		Esophageal Squamous(134;328 1721 9795 37986 41605)								0.548638	463.895759	464.424793	141	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23445718	23445718	8272	14	A	T	T	T	26	2	JUB	3	3
MYH6	4624	broad.mit.edu	37	14	23851669	23851669	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23851669G>T	uc001wjv.2	-	c.5764C>A	c.(5764-5766)CTT>ATT	p.L1922I		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1922	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.140845	28.039157	45.867795	20	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23851669	23851669	10433	14	G	T	T	T	442	34	MYH6	2	2
PRPF39	55015	broad.mit.edu	37	14	45571881	45571881	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45571881A>G	uc001wvz.3	+	c.719A>G	c.(718-720)TAT>TGT	p.Y240C	PRPF39_uc001wvy.3_Missense_Mutation_p.Y119C|PRPF39_uc010and.2_Missense_Mutation_p.Y30C	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	240	HAT 4.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2														0.342391	218.48012	222.513325	63	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45571881	45571881	13012	14	A	G	G	G	208	16	PRPF39	4	4
FKBP3	2287	broad.mit.edu	37	14	45603642	45603642	+	Silent	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45603642T>A	uc010tqf.1	-	c.18A>T	c.(16-18)CCA>CCT	p.P6P	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	6					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0														0.439394	89.554829	89.767445	29	37	KEEP	---	---	---	---	capture		Silent	SNP	45603642	45603642	6147	14	T	A	A	A	756	59	FKBP3	3	3
SLC35F4	341880	broad.mit.edu	37	14	58031051	58031051	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58031051G>T	uc001xdb.1	-	c.1368C>A	c.(1366-1368)CGC>CGA	p.R456R	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.R297R	NM_001080455	NP_001073924	A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	456	Helical; (Potential).				transport	integral to membrane				ovary(2)	2														0.232323	59.972614	66.469046	23	76	KEEP	---	---	---	---	capture		Silent	SNP	58031051	58031051	15088	14	G	T	T	T	535	42	SLC35F4	2	2
PPP2R5E	5529	broad.mit.edu	37	14	63888812	63888812	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63888812C>G	uc001xgd.1	-	c.355G>C	c.(355-357)GTA>CTA	p.V119L	PPP2R5E_uc010tsf.1_Missense_Mutation_p.V43L|PPP2R5E_uc010tsg.1_Missense_Mutation_p.V43L|PPP2R5E_uc001xge.2_Missense_Mutation_p.V119L|PPP2R5E_uc010tsh.1_Missense_Mutation_p.V119L|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	119					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)										0.125	20.460908	32.551454	11	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63888812	63888812	12832	14	C	G	G	G	234	18	PPP2R5E	3	3
SPTB	6710	broad.mit.edu	37	14	65246605	65246605	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65246605C>G	uc001xhr.2	-	c.4311G>C	c.(4309-4311)GAG>GAC	p.E1437D	SPTB_uc001xhs.2_Missense_Mutation_p.E1437D|SPTB_uc001xht.2_Missense_Mutation_p.E1437D|SPTB_uc001xhu.2_Missense_Mutation_p.E1437D|SPTB_uc010aqi.2_Missense_Mutation_p.E98D	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	1437	Spectrin 11.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.267327	78.374324	83.315837	27	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65246605	65246605	15632	14	C	G	G	G	363	28	SPTB	3	3
MAP3K9	4293	broad.mit.edu	37	14	71197442	71197442	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71197442C>A	uc001xml.2	-	c.3012G>T	c.(3010-3012)GAG>GAT	p.E1004D	MAP3K9_uc010ttk.1_Missense_Mutation_p.E718D|MAP3K9_uc001xmk.2_Missense_Mutation_p.E723D|MAP3K9_uc001xmm.2_Missense_Mutation_p.E990D	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.54386	101.627308	101.722411	31	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71197442	71197442	9640	14	C	A	A	A	259	20	MAP3K9	2	2
C14orf169	79697	broad.mit.edu	37	14	73959323	73959323	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73959323A>T	uc001xok.1	+	c.1602A>T	c.(1600-1602)GAA>GAT	p.E534D	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	534					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|oxidation-reduction process|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)										0.257143	24.25867	26.129813	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73959323	73959323	1806	14	A	T	T	T	26	2	C14orf169	3	3
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79434538G>T	uc001xun.2	+	c.1872G>T	c.(1870-1872)CTG>CTT	p.L624L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.L749L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	997	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.455446	149.440483	149.614719	46	55	KEEP	---	---	---	---	capture		Silent	SNP	79434538	79434538	11072	14	G	T	T	T	600	47	NRXN3	2	2
NRXN3	9369	broad.mit.edu	37	14	80328143	80328143	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80328143T>C	uc001xun.2	+	c.3022T>C	c.(3022-3024)TAC>CAC	p.Y1008H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.Y584H|NRXN3_uc010asw.2_Missense_Mutation_p.Y406H|NRXN3_uc001xur.3_Missense_Mutation_p.Y379H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1590	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.203704	58.298638	67.09184	22	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80328143	80328143	11072	14	T	C	C	C	741	57	NRXN3	4	4
PTPN21	11099	broad.mit.edu	37	14	89016693	89016693	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89016693C>A	uc001xwv.3	-	c.69G>T	c.(67-69)CTG>CTT	p.L23L	PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.L23L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	23	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)	3														0.133333	12.1558	19.988725	8	52	KEEP	---	---	---	---	capture		Silent	SNP	89016693	89016693	13243	14	C	A	A	A	262	21	PTPN21	2	2
CLMN	79789	broad.mit.edu	37	14	95677189	95677189	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95677189C>G	uc001yef.2	-	c.636G>C	c.(634-636)GCG>GCC	p.A212A		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	212	Actin-binding.|CH 2.					integral to membrane	actin binding				0				Epithelial(152;0.193)										0.167568	62.953564	82.292003	31	154	KEEP	---	---	---	---	capture		Silent	SNP	95677189	95677189	3680	14	C	G	G	G	288	23	CLMN	3	3
ATG2B	55102	broad.mit.edu	37	14	96777950	96777950	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96777950C>A	uc001yfi.2	-	c.3919G>T	c.(3919-3921)GTT>TTT	p.V1307F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1307										ovary(1)|kidney(1)	2		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)										0.266667	22.88577	24.36142	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96777950	96777950	1113	14	C	A	A	A	221	17	ATG2B	2	2
CYFIP1	23191	broad.mit.edu	37	15	23000107	23000107	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23000107G>C	uc001yus.2	+	c.3461G>C	c.(3460-3462)GGT>GCT	p.G1154A	CYFIP1_uc001yut.2_Missense_Mutation_p.G1154A|CYFIP1_uc001yuu.2_Missense_Mutation_p.G723A|CYFIP1_uc001yuv.2_Missense_Mutation_p.G348A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1154					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)	8		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)						1870				0.24031	86.94793	94.899311	31	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23000107	23000107	4302	15	G	C	C	C	572	44	CYFIP1	3	3
C15orf2	23742	broad.mit.edu	37	15	24921525	24921525	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921525G>C	uc001ywo.2	+	c.511G>C	c.(511-513)GGG>CGG	p.G171R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	171					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)					p.G171W(SNU81-Tumor)	443				0.145833	13.590673	19.381528	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921525	24921525	1834	15	G	C	C	C	455	35	C15orf2	3	3
GABRB3	2562	broad.mit.edu	37	15	26806314	26806314	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26806314G>T	uc001zbb.2	-	c.1013C>A	c.(1012-1014)ACT>AAT	p.T338N	GABRB3_uc010uae.1_Missense_Mutation_p.T197N|GABRB3_uc001zaz.2_Missense_Mutation_p.T282N|GABRB3_uc001zba.2_Missense_Mutation_p.T282N	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	282	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.096386	21.801084	62.471346	24	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26806314	26806314	6419	15	G	T	T	T	468	36	GABRB3	2	2
OTUD7A	161725	broad.mit.edu	37	15	31862303	31862303	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31862303A>G	uc001zfr.2	-	c.249T>C	c.(247-249)GGT>GGC	p.G83G	OTUD7A_uc001zfq.2_Silent_p.G83G|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Silent_p.G83G	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	83						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)	1		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)										0.134454	28.146722	43.54183	16	103	KEEP	---	---	---	---	capture		Silent	SNP	31862303	31862303	11731	15	A	G	G	G	119	10	OTUD7A	4	4
ARHGAP11A	9824	broad.mit.edu	37	15	32928496	32928496	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:32928496A>G	uc001zgy.1	+	c.1522A>G	c.(1522-1524)ACT>GCT	p.T508A	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T319A|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T319A	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|urinary_tract(1)|skin(1)	4		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		Colon(45;757 1134 30003 36652)								0.16	20.467883	25.970456	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32928496	32928496	874	15	A	G	G	G	26	2	ARHGAP11A	4	4
RYR3	6263	broad.mit.edu	37	15	33955875	33955875	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33955875G>A	uc001zhi.2	+	c.5556G>A	c.(5554-5556)CTG>CTA	p.L1852L	RYR3_uc010bar.2_Silent_p.L1852L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1852	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.34375	32.715627	33.405548	11	21	KEEP	---	---	---	---	capture		Silent	SNP	33955875	33955875	14250	15	G	A	A	A	574	45	RYR3	2	2
PLA2G4F	255189	broad.mit.edu	37	15	42434278	42434278	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42434278G>A	uc001zoz.2	-	c.2454C>T	c.(2452-2454)CTC>CTT	p.L818L	PLA2G4F_uc010bcq.2_Silent_p.L115L|PLA2G4F_uc001zoy.2_Silent_p.L450L|PLA2G4F_uc010bcr.2_Silent_p.L569L|PLA2G4F_uc001zpa.2_Silent_p.L569L|PLA2G4F_uc010bcs.2_Silent_p.L605L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)										0.140845	15.700072	24.540603	10	61	KEEP	---	---	---	---	capture		Silent	SNP	42434278	42434278	12432	15	G	A	A	A	574	45	PLA2G4F	2	2
UNC13C	440279	broad.mit.edu	37	15	54305855	54305855	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54305855G>T	uc002ack.2	+	c.755G>T	c.(754-756)GGA>GTA	p.G252V		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	252					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.235772	71.50811	79.363533	29	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54305855	54305855	17544	15	G	T	T	T	533	41	UNC13C	2	2
UNC13C	440279	broad.mit.edu	37	15	54306827	54306827	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54306827G>T	uc002ack.2	+	c.1727G>T	c.(1726-1728)AGC>ATC	p.S576I		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.205479	35.080847	40.956286	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54306827	54306827	17544	15	G	T	T	T	442	34	UNC13C	2	2
UNC13C	440279	broad.mit.edu	37	15	54307661	54307661	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54307661C>A	uc002ack.2	+	c.2561C>A	c.(2560-2562)ACG>AAG	p.T854K		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	854					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.22	59.389055	66.619457	22	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54307661	54307661	17544	15	C	A	A	A	247	19	UNC13C	1	1
TCF12	6938	broad.mit.edu	37	15	57525012	57525012	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57525012G>A	uc002aea.2	+	c.928G>A	c.(928-930)GCC>ACC	p.A310T	TCF12_uc010ugm.1_Missense_Mutation_p.A362T|TCF12_uc010ugn.1_Missense_Mutation_p.A306T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.A310T|TCF12_uc002aec.2_Missense_Mutation_p.A310T|TCF12_uc002aed.2_Missense_Mutation_p.A310T|TCF12_uc002aee.2_Missense_Mutation_p.A140T|TCF12_uc010bft.2_Missense_Mutation_p.A140T|TCF12_uc010ugo.1_Missense_Mutation_p.A74T	NM_207036	NP_996919	Q99081	HTF4_HUMAN	transcription factor 12 isoform a	310					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)						335				0.493421	233.914845	233.9207	75	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57525012	57525012	16213	15	G	A	A	A	598	46	TCF12	2	2
LIPC	3990	broad.mit.edu	37	15	58830684	58830684	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58830684C>A	uc010bga.1	+	c.241C>A	c.(241-243)CTG>ATG	p.L81M	LIPC_uc010bfz.1_Missense_Mutation_p.L81M|LIPC_uc002afa.1_Missense_Mutation_p.L81M|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.1_Missense_Mutation_p.L81M	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	81					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|reverse cholesterol transport|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)										0.271945	441.584587	468.832251	158	423	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58830684	58830684	9147	15	C	A	A	A	311	24	LIPC	2	2
VPS13C	54832	broad.mit.edu	37	15	62232916	62232916	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62232916C>T	uc002agz.2	-	c.5531G>A	c.(5530-5532)CGA>CAA	p.R1844Q	VPS13C_uc002aha.2_Missense_Mutation_p.R1801Q|VPS13C_uc002ahb.1_Missense_Mutation_p.R1844Q|VPS13C_uc002ahc.1_Missense_Mutation_p.R1801Q	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1844					protein localization					ovary(2)	2														0.189474	43.093002	51.661944	18	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62232916	62232916	17758	15	C	T	T	T	403	31	VPS13C	1	1
FAM96A	84191	broad.mit.edu	37	15	64380925	64380925	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64380925T>A	uc002amt.1	-	c.250A>T	c.(250-252)ACG>TCG	p.T84S	FAM96A_uc002amu.1_Missense_Mutation_p.T84S|FAM96A_uc010uin.1_Missense_Mutation_p.T84S	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	84					chromosome segregation						0														0.5	23.524404	23.524404	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64380925	64380925	5890	15	T	A	A	A	767	59	FAM96A	3	3
PLEKHO2	80301	broad.mit.edu	37	15	65157686	65157686	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65157686G>T	uc002anv.2	+	c.1072G>T	c.(1072-1074)GCT>TCT	p.A358S	PLEKHO2_uc010bgz.2_Missense_Mutation_p.A34S|PLEKHO2_uc002anw.2_Missense_Mutation_p.A308S	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	358	Pro-rich.									ovary(1)|lung(1)	2														0.209677	30.938488	35.776322	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65157686	65157686	12511	15	G	T	T	T	546	42	PLEKHO2	2	2
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73528761C>G	uc002avm.3	+	c.1365C>G	c.(1363-1365)ATC>ATG	p.I455M	NEO1_uc010ukx.1_Missense_Mutation_p.I455M|NEO1_uc010uky.1_Missense_Mutation_p.I455M|NEO1_uc010ukz.1_De_novo_Start_OutOfFrame|NEO1_uc002avn.3_Missense_Mutation_p.I120M	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.176211	103.554837	125.987492	40	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73528761	73528761	10735	15	C	G	G	G	369	29	NEO1	3	3
CYP1A1	1543	broad.mit.edu	37	15	75014042	75014042	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75014042A>T	uc002ayp.3	-	c.842T>A	c.(841-843)ATC>AAC	p.I281N	CYP1A1_uc010bjv.2_Non-coding_Transcript|CYP1A1_uc010bjw.2_Non-coding_Transcript|CYP1A1_uc010bju.2_Missense_Mutation_p.I17N|CYP1A1_uc010bjx.2_Missense_Mutation_p.I17N|CYP1A1_uc002ayq.3_Missense_Mutation_p.I281N|CYP1A1_uc010bjy.2_Missense_Mutation_p.I281N|CYP1A1_uc010bjz.1_Missense_Mutation_p.I17N	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	281					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.268908	92.849796	98.583097	32	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75014042	75014042	4314	15	A	T	T	T	156	12	CYP1A1	3	3
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79067005T>C	uc002bej.3	-	c.1837A>G	c.(1837-1839)AAG>GAG	p.K613E	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.166667	9.953784	13.117795	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79067005	79067005	272	15	T	C	C	C	819	63	ADAMTS7	4	4
C15orf26	161502	broad.mit.edu	37	15	81428997	81428997	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81428997G>A	uc002bgb.2	+	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q	C15orf26_uc010blp.1_Silent_p.Q75Q	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	100											0														0.129187	47.399516	75.361219	27	182	KEEP	---	---	---	---	capture		Silent	SNP	81428997	81428997	1837	15	G	A	A	A	464	36	C15orf26	2	2
IL16	3603	broad.mit.edu	37	15	81591951	81591951	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81591951G>A	uc010unp.1	+	c.2410G>A	c.(2410-2412)GAC>AAC	p.D804N	IL16_uc010blq.1_Missense_Mutation_p.D716N|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Missense_Mutation_p.D762N|IL16_uc002bgg.2_Missense_Mutation_p.D762N|IL16_uc002bgi.1_Missense_Mutation_p.D152N|IL16_uc002bgj.2_Missense_Mutation_p.D256N|IL16_uc002bgk.2_Missense_Mutation_p.D61N|IL16_uc002bgl.1_Missense_Mutation_p.D61N|IL16_uc010unq.1_Missense_Mutation_p.D61N	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	762					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.172414	19.614348	25.495584	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81591951	81591951	7934	15	G	A	A	A	533	41	IL16	2	2
EFTUD1	79631	broad.mit.edu	37	15	82533698	82533698	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82533698C>A	uc002bgt.1	-	c.291G>T	c.(289-291)GTG>GTT	p.V97V	EFTUD1_uc002bgu.1_Silent_p.V46V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	97							GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1														0.165414	48.278393	62.39471	22	111	KEEP	---	---	---	---	capture		Silent	SNP	82533698	82533698	5149	15	C	A	A	A	262	21	EFTUD1	2	2
ADAMTSL3	57188	broad.mit.edu	37	15	84611402	84611402	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84611402G>T	uc002bjz.3	+	c.2172G>T	c.(2170-2172)CAG>CAT	p.Q724H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q724H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q724H	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	724	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.131148	49.744928	82.006847	32	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84611402	84611402	277	15	G	T	T	T	425	33	ADAMTSL3	2	2
ADAMTSL3	57188	broad.mit.edu	37	15	84683293	84683294	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84683293_84683294GG>TT	uc002bjz.3	+	c.3974_splice	c.e24-1	p.G1325_splice	ADAMTSL3_uc010bmt.1_Splice_Site_DNP_p.G1325_splice|ADAMTSL3_uc010bmu.1_Splice_Site_DNP_p.G1325_splice	NM_207517	NP_997400			ADAMTS-like 3 precursor							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.098246	22.079689	68.119989	28	257	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	84683293	84683294	277	15	GG	TT	TT	TT	455	35	ADAMTSL3	5	2
NTRK3	4916	broad.mit.edu	37	15	88678465	88678465	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88678465C>A	uc002bme.1	-	c.1071G>T	c.(1069-1071)GAG>GAT	p.E357D	NTRK3_uc002bmh.2_Missense_Mutation_p.E357D|NTRK3_uc002bmf.1_Missense_Mutation_p.E357D|NTRK3_uc010upl.1_Missense_Mutation_p.E259D|NTRK3_uc010bnh.1_Missense_Mutation_p.E357D|NTRK3_uc002bmg.2_Missense_Mutation_p.E357D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	357	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.190083	49.432912	60.33152	23	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88678465	88678465	11113	15	C	A	A	A	415	32	NTRK3	2	2
HAPLN3	145864	broad.mit.edu	37	15	89424754	89424754	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89424754G>C	uc002bnd.2	-	c.513C>G	c.(511-513)CAC>CAG	p.H171Q	HAPLN3_uc002bnc.2_Missense_Mutation_p.H109Q|HAPLN3_uc002bne.2_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	109	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.367647	84.85881	85.905443	25	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89424754	89424754	7238	15	G	C	C	C	568	44	HAPLN3	3	3
PEX11A	8800	broad.mit.edu	37	15	90226986	90226986	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90226986C>G	uc002boi.2	-	c.366G>C	c.(364-366)AGG>AGC	p.R122S	PEX11A_uc010upy.1_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	122	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)											0.139241	42.836832	62.707372	22	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90226986	90226986	12159	15	C	G	G	G	285	22	PEX11A	3	3
MYH11	4629	broad.mit.edu	37	16	15917231	15917231	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15917231T>C	uc002ddx.2	-	c.383A>G	c.(382-384)TAT>TGT	p.Y128C	MYH11_uc002ddv.2_Missense_Mutation_p.Y128C|MYH11_uc002ddw.2_Missense_Mutation_p.Y128C|MYH11_uc002ddy.2_Missense_Mutation_p.Y128C|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.Y128C	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	128	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.252918	195.152759	209.399374	65	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15917231	15917231	10426	16	T	C	C	C	637	49	MYH11	4	4
PDILT	204474	broad.mit.edu	37	16	20410590	20410590	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20410590C>T	uc002dhc.1	-	c.33G>A	c.(31-33)GTG>GTA	p.V11V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	11					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.137026	71.092554	114.833959	47	296	KEEP	---	---	---	---	capture		Silent	SNP	20410590	20410590	12095	16	C	T	T	T	262	21	PDILT	2	2
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20636757C>A	uc002dhm.1	-	c.1515G>T	c.(1513-1515)CCG>CCT	p.P505P	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.P505P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	505					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)	1														0.371681	121.816944	123.452885	42	71	KEEP	---	---	---	---	capture		Silent	SNP	20636757	20636757	183	16	C	A	A	A	392	31	ACSM1	1	1
OTOA	146183	broad.mit.edu	37	16	21739597	21739597	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21739597C>T	uc002djh.2	+	c.2052C>T	c.(2050-2052)ATC>ATT	p.I684I	OTOA_uc010vbj.1_Silent_p.I605I|OTOA_uc002dji.2_Silent_p.I360I|OTOA_uc010vbk.1_Silent_p.I332I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	698					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.359524	450.916842	458.210475	151	269	KEEP	---	---	---	---	capture		Silent	SNP	21739597	21739597	11714	16	C	T	T	T	369	29	OTOA	2	2
IL21R	50615	broad.mit.edu	37	16	27456538	27456538	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27456538C>G	uc002doq.1	+	c.726C>G	c.(724-726)CTC>CTG	p.L242L	IL21R_uc002dor.1_Silent_p.L242L|IL21R_uc002dos.1_Silent_p.L242L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	242	Helical; (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.34375	38.815555	39.505546	11	21	KEEP	---	---	---	---	capture		Silent	SNP	27456538	27456538	7972	16	C	G	G	G	379	30	IL21R	3	3
CNOT1	23019	broad.mit.edu	37	16	58580244	58580244	+	Silent	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58580244G>C	uc002env.2	-	c.3987C>G	c.(3985-3987)CTC>CTG	p.L1329L	CNOT1_uc002enw.2_Non-coding_Transcript|CNOT1_uc002enu.3_Silent_p.L1324L|CNOT1_uc002enx.2_Silent_p.L1329L|CNOT1_uc010vik.1_Silent_p.L286L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1329					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)										0.18543	73.308245	87.315423	28	123	KEEP	---	---	---	---	capture		Silent	SNP	58580244	58580244	3755	16	G	C	C	C	522	41	CNOT1	3	3
CDH11	1009	broad.mit.edu	37	16	64981591	64981591	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:64981591T>C	uc002eoi.2	-	c.2306A>G	c.(2305-2307)TAT>TGT	p.Y769C	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y643C	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	769	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.464286	276.032157	276.218781	78	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64981591	64981591	3226	16	T	C	C	C	637	49	CDH11	4	4
C16orf70	80262	broad.mit.edu	37	16	67178769	67178769	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67178769C>T	uc002erc.2	+	c.995C>T	c.(994-996)GCC>GTC	p.A332V	C16orf70_uc002erd.2_Missense_Mutation_p.A332V	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	332										ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)										0.36036	117.357683	119.267409	40	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67178769	67178769	1882	16	C	T	T	T	338	26	C16orf70	2	2
DPEP2	64174	broad.mit.edu	37	16	68026508	68026508	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68026508C>A	uc002evd.3	-	c.295G>T	c.(295-297)GTT>TTT	p.V99F	DPEP2_uc010cey.2_Missense_Mutation_p.V99F|DPEP2_uc002eve.2_Missense_Mutation_p.V99F|DPEP2_uc002evf.2_Non-coding_Transcript|DPEP2_uc002evg.2_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	99					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)										0.222222	22.723863	25.920597	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68026508	68026508	4898	16	C	A	A	A	234	18	DPEP2	2	2
NFATC3	4775	broad.mit.edu	37	16	68225604	68225604	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68225604G>A	uc002evo.1	+	c.3032G>A	c.(3031-3033)AGC>AAC	p.S1011N	NFATC3_uc010vkl.1_Missense_Mutation_p.S532N|NFATC3_uc010vkm.1_Missense_Mutation_p.S532N|NFATC3_uc010vkn.1_Missense_Mutation_p.S532N|NFATC3_uc010vko.1_Missense_Mutation_p.S532N|NFATC3_uc010vkp.1_Missense_Mutation_p.S532N|NFATC3_uc010vkq.1_Missense_Mutation_p.S532N|NFATC3_uc002evl.2_Missense_Mutation_p.S532N|NFATC3_uc002evk.2_Missense_Mutation_p.S1011N|NFATC3_uc002evm.1_Missense_Mutation_p.S1011N|NFATC3_uc002evn.1_Missense_Mutation_p.S1011N|NFATC3_uc010vkr.1_Missense_Mutation_p.S532N|NFATC3_uc010vks.1_Missense_Mutation_p.S532N|NFATC3_uc010vkt.1_Missense_Mutation_p.S532N|NFATC3_uc010vku.1_Missense_Mutation_p.S532N|NFATC3_uc010vkv.1_Missense_Mutation_p.S532N|NFATC3_uc010vkw.1_Missense_Mutation_p.S532N|NFATC3_uc010vkx.1_Missense_Mutation_p.S532N|NFATC3_uc010vky.1_Missense_Mutation_p.S532N|NFATC3_uc010vkz.1_Missense_Mutation_p.S532N|NFATC3_uc010vla.1_Missense_Mutation_p.S532N|NFATC3_uc010vlb.1_Missense_Mutation_p.S532N|NFATC3_uc010vlc.1_Missense_Mutation_p.S532N	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	1011					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)										0.42437	325.113312	326.305562	101	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68225604	68225604	10764	16	G	A	A	A	442	34	NFATC3	2	2
KIAA0174	9798	broad.mit.edu	37	16	71955338	71955338	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71955338A>T	uc002fbk.1	+	c.534A>T	c.(532-534)GAA>GAT	p.E178D	KIAA0174_uc002fbj.1_Missense_Mutation_p.E191D|KIAA0174_uc010cgh.1_Missense_Mutation_p.E191D|KIAA0174_uc002fbm.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbl.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbn.1_Missense_Mutation_p.E30D|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.E110D|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.E30D	NM_014761	NP_055576	P53990	IST1_HUMAN	MAPK activating protein PM28	178	Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1														0.136364	16.631889	25.079416	9	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71955338	71955338	8465	16	A	T	T	T	24	2	KIAA0174	3	3
ZC3H18	124245	broad.mit.edu	37	16	88653008	88653008	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:88653008G>T	uc010voz.1	+	c.604G>T	c.(604-606)GAT>TAT	p.D202Y	ZC3H18_uc010voy.1_Missense_Mutation_p.D85Y|ZC3H18_uc002fky.2_Missense_Mutation_p.D202Y|ZC3H18_uc010vpa.1_Missense_Mutation_p.D202Y	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	202	Poly-Asp.					nucleus	nucleic acid binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0542)		Ovarian(121;375 2276 20373 38669)								0.219512	22.153791	25.12415	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88653008	88653008	18156	16	G	T	T	T	533	41	ZC3H18	2	2
MYH4	4622	broad.mit.edu	37	17	10369629	10369629	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10369629C>T	uc002gmn.2	-	c.309G>A	c.(307-309)CTG>CTA	p.L103L		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	103	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.609053	488.238293	490.765158	148	95	KEEP	---	---	---	---	capture		Silent	SNP	10369629	10369629	10432	17	C	T	T	T	210	17	MYH4	2	2
TOP3A	7156	broad.mit.edu	37	17	18193881	18193881	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18193881C>A	uc002gsx.1	-	c.1587G>T	c.(1585-1587)AAG>AAT	p.K529N	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Missense_Mutation_p.K59N|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.K427N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	529					DNA topological change|DNA unwinding involved in replication|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(2)	2														0.172414	11.05599	13.996635	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18193881	18193881	16909	17	C	A	A	A	363	28	TOP3A	2	2
NF1	4763	broad.mit.edu	37	17	29657349	29657349	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29657349G>A	uc002hgg.2	+	c.5645G>A	c.(5644-5646)TGT>TAT	p.C1882Y	NF1_uc002hgh.2_Missense_Mutation_p.C1861Y|NF1_uc002hgi.1_Missense_Mutation_p.C894Y|NF1_uc010cso.2_Missense_Mutation_p.C70Y	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1882					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.C1882F(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.433333	81.856568	82.085504	26	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29657349	29657349	10756	17	G	A	A	A	624	48	NF1	2	2
LRRC37B	114659	broad.mit.edu	37	17	30349570	30349570	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30349570A>G	uc002hgu.2	+	c.1405A>G	c.(1405-1407)AAG>GAG	p.K469E	LRRC37B_uc010wbx.1_Missense_Mutation_p.K387E|LRRC37B_uc010csu.2_Missense_Mutation_p.K469E	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	469	Extracellular (Potential).			K -> E (in Ref. 2; AAR28082).		integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.285714	80.312346	84.061882	26	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30349570	30349570	9369	17	A	G	G	G	117	9	LRRC37B	4	4
MED1	5469	broad.mit.edu	37	17	37565297	37565297	+	Silent	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37565297G>C	uc002hrv.3	-	c.3177C>G	c.(3175-3177)CCC>CCG	p.P1059P	MED1_uc010wee.1_Silent_p.P887P|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1059	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|kidney(1)	2		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		Pancreas(21;279 768 2492 4877 24026)								0.528958	461.760984	461.948282	137	122	KEEP	---	---	---	---	capture		Silent	SNP	37565297	37565297	9814	17	G	C	C	C	600	47	MED1	3	3
AOC2	314	broad.mit.edu	37	17	40996773	40996773	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40996773G>A	uc002ibu.2	+	c.130G>A	c.(130-132)GCC>ACC	p.A44T	AOC2_uc002ibt.2_Missense_Mutation_p.A44T	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	44					catecholamine metabolic process|oxidation-reduction process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)										0.1	25.434149	82.889815	36	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40996773	40996773	737	17	G	A	A	A	546	42	AOC2	2	2
UBTF	7343	broad.mit.edu	37	17	42286812	42286812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42286812G>A	uc002igb.2	-	c.1813C>T	c.(1813-1815)CAG>TAG	p.Q605*	UBTF_uc002igc.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q605*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q605*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q568*	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	605	HMG box 6.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding|RNA polymerase I transcription factor activity				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)										0.276923	46.822027	49.733269	18	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42286812	42286812	17467	17	G	A	A	A	598	46	UBTF	5	2
ACBD4	79777	broad.mit.edu	37	17	43215142	43215142	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43215142G>A	uc010wjj.1	+	c.556G>A	c.(556-558)GGG>AGG	p.G186R	ACBD4_uc002iid.2_Missense_Mutation_p.R173K|ACBD4_uc002iie.2_Missense_Mutation_p.G186R|ACBD4_uc002iif.2_Missense_Mutation_p.R173K|ACBD4_uc002iic.2_Missense_Mutation_p.R173K|ACBD4_uc010dae.2_Missense_Mutation_p.G108R	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	169							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2														0.25	33.591529	36.308749	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43215142	43215142	125	17	G	A	A	A	455	35	ACBD4	2	2
NSF	4905	broad.mit.edu	37	17	44782158	44782158	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44782158G>A	uc002iku.2	+	c.1408G>A	c.(1408-1410)GCA>ACA	p.A470T	NSF_uc010wke.1_Missense_Mutation_p.A376T|NSF_uc010wkf.1_Missense_Mutation_p.A376T|NSF_uc010wkg.1_Missense_Mutation_p.A465T	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	470					protein transport|proteolysis|synaptic transmission	cytosol	ATP binding|ATP-dependent peptidase activity|metal ion binding|serine-type endopeptidase activity			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		Ovarian(25;472 742 1472 36813 50223)								0.131783	31.280082	48.277742	17	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44782158	44782158	11076	17	G	A	A	A	442	34	NSF	2	2
HOXB1	3211	broad.mit.edu	37	17	46607116	46607116	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46607116C>A	uc002ink.1	-	c.699G>T	c.(697-699)AGG>AGT	p.R233S		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	233	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.14433	43.259917	66.897594	28	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46607116	46607116	7591	17	C	A	A	A	285	22	HOXB1	2	2
DLX3	1747	broad.mit.edu	37	17	48072147	48072147	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48072147A>T	uc002ipy.2	-	c.216T>A	c.(214-216)AAT>AAA	p.N72K		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	72					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.225	23.754192	26.533229	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48072147	48072147	4752	17	A	T	T	T	102	8	DLX3	3	3
ANKFN1	162282	broad.mit.edu	37	17	54403587	54403587	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54403587G>A	uc002iun.1	+	c.68G>A	c.(67-69)GGA>GAA	p.G23E		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	23										large_intestine(1)|ovary(1)	2														0.304687	225.853161	234.565679	78	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54403587	54403587	628	17	G	A	A	A	533	41	ANKFN1	2	2
HEATR6	63897	broad.mit.edu	37	17	58134604	58134604	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58134604C>T	uc002iyk.1	-	c.1884G>A	c.(1882-1884)AAG>AAA	p.K628K	HEATR6_uc010ddk.1_Silent_p.K167K|HEATR6_uc010wos.1_Silent_p.K460K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	628							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)											0.167702	59.81982	76.666771	27	134	KEEP	---	---	---	---	capture		Silent	SNP	58134604	58134604	7316	17	C	T	T	T	415	32	HEATR6	2	2
GH1	2688	broad.mit.edu	37	17	61995377	61995377	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61995377G>T	uc002jdj.2	-	c.291C>A	c.(289-291)TCC>TCA	p.S97S	GH1_uc002jdi.2_Silent_p.S82S|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.S97S	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	97			S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0										99				0.452381	124.910318	125.079332	38	46	KEEP	---	---	---	---	capture		Silent	SNP	61995377	61995377	6635	17	G	T	T	T	496	39	GH1	1	1
PRKCA	5578	broad.mit.edu	37	17	64800011	64800011	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64800011C>A	uc002jfp.1	+	c.1875C>A	c.(1873-1875)AAC>AAA	p.N625K		NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	625	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.146341	10.119684	15.052794	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64800011	64800011	12950	17	C	A	A	A	259	20	PRKCA	2	2
ABCA8	10351	broad.mit.edu	37	17	66891114	66891114	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66891114C>A	uc002jhq.2	-	c.2805G>T	c.(2803-2805)CAG>CAT	p.Q935H	ABCA8_uc002jhp.2_Missense_Mutation_p.Q895H|ABCA8_uc010wqq.1_Missense_Mutation_p.Q935H|ABCA8_uc010wqr.1_Missense_Mutation_p.Q874H|ABCA8_uc002jhr.2_Missense_Mutation_p.Q935H	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	895						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.157025	37.343201	50.925965	19	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66891114	66891114	39	17	C	A	A	A	415	32	ABCA8	2	2
ABCA9	10350	broad.mit.edu	37	17	67031811	67031811	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67031811C>T	uc002jhu.2	-	c.932G>A	c.(931-933)GGC>GAC	p.G311D	ABCA9_uc010dez.2_Missense_Mutation_p.G311D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	311	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.34	97.916175	100.180695	34	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67031811	67031811	40	17	C	T	T	T	338	26	ABCA9	2	2
SDK2	54549	broad.mit.edu	37	17	71394318	71394318	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71394318G>T	uc010dfm.2	-	c.3210C>A	c.(3208-3210)CGC>CGA	p.R1070R	SDK2_uc002jjt.3_Silent_p.R229R|SDK2_uc010dfn.2_Silent_p.R749R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1070	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.166667	10.054662	13.21616	5	25	KEEP	---	---	---	---	capture		Silent	SNP	71394318	71394318	14455	17	G	T	T	T	587	46	SDK2	2	2
CD300C	10871	broad.mit.edu	37	17	72540857	72540857	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72540857C>T	uc002jky.1	-	c.291G>A	c.(289-291)CTG>CTA	p.L97L		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	97	Extracellular (Potential).|Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						Esophageal Squamous(66;421 1121 20537 25337 27468)								0.278481	122.329267	129.305355	44	114	KEEP	---	---	---	---	capture		Silent	SNP	72540857	72540857	3125	17	C	T	T	T	262	21	CD300C	2	2
CANT1	124583	broad.mit.edu	37	17	76993153	76993153	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76993153C>T	uc002jwn.2	-	c.552G>A	c.(550-552)ACG>ACA	p.T184T	CANT1_uc002jwk.2_Silent_p.T184T|CANT1_uc002jwj.2_Silent_p.T184T|CANT1_uc002jwl.2_Non-coding_Transcript|CANT1_uc002jwm.1_5'Flank	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	184	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)											0.133929	24.242293	38.822313	15	97	KEEP	---	---	---	---	capture		Silent	SNP	76993153	76993153	2734	17	C	T	T	T	288	23	CANT1	1	1
PIK3R5	23533	broad.mit.edu	37	17	8784284	8784284	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8784284G>A	uc002glt.2	-	c.2433C>T	c.(2431-2433)AAC>AAT	p.N811N	PIK3R5_uc010vuz.1_Silent_p.N811N|PIK3R5_uc002glu.3_Silent_p.N425N	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	811					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.259887	118.783123	128.014515	46	131	KEEP	---	---	---	---	capture		Silent	SNP	8784284	8784284	12346	17	G	A	A	A	620	48	PIK3R5	2	2
C18orf1	753	broad.mit.edu	37	18	13645351	13645351	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13645351A>T	uc002ksa.2	+	c.616A>T	c.(616-618)AGG>TGG	p.R206W	C18orf1_uc002ksb.2_Missense_Mutation_p.R188W|C18orf1_uc002kse.2_Missense_Mutation_p.R169W|C18orf1_uc002ksf.2_Missense_Mutation_p.R151W|C18orf1_uc002ksg.1_Missense_Mutation_p.R129W|C18orf1_uc002ksh.1_Missense_Mutation_p.R148W|C18orf1_uc002ksi.1_Missense_Mutation_p.R130W	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	206	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)										0.2	25.893657	30.497471	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13645351	13645351	1955	18	A	T	T	T	140	11	C18orf1	3	3
CTAGE1	64693	broad.mit.edu	37	18	19996562	19996562	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19996562C>A	uc002ktv.1	-	c.1213G>T	c.(1213-1215)GCC>TCC	p.A405S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	405	Potential.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)													0.123737	70.473084	125.324121	49	347	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19996562	19996562	4151	18	C	A	A	A	364	28	CTAGE1	2	2
DSG3	1830	broad.mit.edu	37	18	29055815	29055815	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29055815T>A	uc002kws.2	+	c.2592T>A	c.(2590-2592)GAT>GAA	p.D864E	DSG3_uc002kwt.2_Missense_Mutation_p.D146E	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	864	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.107527	12.781971	26.990556	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29055815	29055815	4962	18	T	A	A	A	660	51	DSG3	3	3
C18orf34	374864	broad.mit.edu	37	18	30554589	30554589	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30554589C>A	uc010xbr.1	-	c.2517G>T	c.(2515-2517)GTG>GTT	p.V839V	C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.V279V|C18orf34_uc002kxn.2_Silent_p.V815V|C18orf34_uc010dmf.1_Silent_p.V135V|C18orf34_uc002kxo.2_Silent_p.V777V|C18orf34_uc002kxp.2_Silent_p.V815V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	815										ovary(1)	1														0.296296	46.078319	48.082608	16	38	KEEP	---	---	---	---	capture		Silent	SNP	30554589	30554589	1963	18	C	A	A	A	262	21	C18orf34	2	2
MBD1	4152	broad.mit.edu	37	18	47799766	47799766	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47799766C>A	uc010xdi.1	-	c.1675G>T	c.(1675-1677)GAG>TAG	p.E559*	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Nonsense_Mutation_p.E458*|MBD1_uc010dow.1_Nonsense_Mutation_p.E508*|MBD1_uc002leh.3_Nonsense_Mutation_p.E452*|MBD1_uc002len.2_Intron|MBD1_uc002lei.3_Nonsense_Mutation_p.E508*|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Nonsense_Mutation_p.E459*|MBD1_uc002lel.3_Intron|MBD1_uc002lem.3_Nonsense_Mutation_p.E508*|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Nonsense_Mutation_p.E533*|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Intron	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	508					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.181818	58.001916	72.655927	28	126	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47799766	47799766	9726	18	C	A	A	A	403	31	MBD1	5	1
ME2	4200	broad.mit.edu	37	18	48447064	48447064	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48447064C>T	uc002ley.2	+	c.878C>T	c.(877-879)GCA>GTA	p.A293V	ME2_uc010dpd.2_Missense_Mutation_p.A293V	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	293					malate metabolic process|oxidation-reduction process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)									0.214286	42.199895	48.535167	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48447064	48447064	9807	18	C	T	T	T	325	25	ME2	2	2
MEX3C	51320	broad.mit.edu	37	18	48703798	48703798	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48703798G>A	uc002lfc.3	-	c.903C>T	c.(901-903)TCC>TCT	p.S301S		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	301						cytoplasm|nucleus	RNA binding|zinc ion binding			ovary(1)|skin(1)	2		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)										0.381818	65.163605	65.836674	21	34	KEEP	---	---	---	---	capture		Silent	SNP	48703798	48703798	9901	18	G	A	A	A	600	47	MEX3C	2	2
WDR7	23335	broad.mit.edu	37	18	54446673	54446673	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54446673T>C	uc002lgk.1	+	c.2959T>C	c.(2959-2961)TTA>CTA	p.L987L	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.L954L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	987										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.638889	436.482363	439.541634	115	65	KEEP	---	---	---	---	capture		Silent	SNP	54446673	54446673	17893	18	T	C	C	C	777	60	WDR7	4	4
LMAN1	3998	broad.mit.edu	37	18	57026338	57026338	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:57026338C>G	uc002lhz.2	-	c.139G>C	c.(139-141)GAG>CAG	p.E47Q	LMAN1_uc010xek.1_Missense_Mutation_p.E47Q	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	47	Lumenal (Potential).|L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|unfolded protein binding				0		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)									0.281553	93.536988	97.949813	29	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57026338	57026338	9165	18	C	G	G	G	403	31	LMAN1	3	3
L3MBTL4	91133	broad.mit.edu	37	18	5969418	5969418	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5969418G>T	uc002kmz.3	-	c.1615C>A	c.(1615-1617)CAA>AAA	p.Q539K	L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q539K|L3MBTL4_uc002kmy.3_Missense_Mutation_p.Q368K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	539					chromatin modification|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Colorectal(10;0.0249)				Esophageal Squamous(41;748 902 17366 28959 43175)								0.217949	41.630139	47.352659	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5969418	5969418	8917	18	G	T	T	T	611	47	L3MBTL4	2	2
RPS15	6209	broad.mit.edu	37	19	1440170	1440170	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1440170G>A	uc002lsq.1	+	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	RPS15_uc002lsp.1_Missense_Mutation_p.R81Q	NM_001018	NP_001009	P62841	RS15_HUMAN	ribosomal protein S15	81					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Ovarian(170;79 2680 5719 44260)								0.285714	12.594837	13.171275	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1440170	1440170	14104	19	G	A	A	A	507	39	RPS15	1	1
OR7A10	390892	broad.mit.edu	37	19	14952191	14952191	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14952191G>C	uc002mzx.1	-	c.499C>G	c.(499-501)CCC>GCC	p.P167A		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.5	262.870753	262.870753	73	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14952191	14952191	11625	19	G	C	C	C	546	42	OR7A10	3	3
OR7A17	26333	broad.mit.edu	37	19	14991871	14991871	+	Silent	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14991871G>C	uc010xob.1	-	c.297C>G	c.(295-297)ACC>ACG	p.T99T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.45	355.459823	355.98396	108	132	KEEP	---	---	---	---	capture		Silent	SNP	14991871	14991871	11626	19	G	C	C	C	548	43	OR7A17	3	3
OR7C2	26658	broad.mit.edu	37	19	15052376	15052376	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15052376C>T	uc010xoc.1	+	c.76C>T	c.(76-78)CTC>TTC	p.L26F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Ovarian(108;0.203)													0.438017	174.05997	174.464901	53	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15052376	15052376	11629	19	C	T	T	T	416	32	OR7C2	2	2
THOP1	7064	broad.mit.edu	37	19	2790467	2790467	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2790467A>G	uc002lwj.2	+	c.65A>G	c.(64-66)AAC>AGC	p.N22S		NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	22					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.323944	70.500875	72.453957	23	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2790467	2790467	16399	19	A	G	G	G	26	2	THOP1	4	4
ZNF569	148266	broad.mit.edu	37	19	37903769	37903769	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37903769C>A	uc002ogj.2	-	c.1863G>T	c.(1861-1863)ATG>ATT	p.M621I	ZNF569_uc002ogh.2_Missense_Mutation_p.M438I|ZNF569_uc002ogi.2_Missense_Mutation_p.M597I	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	597	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.476923	197.341663	197.401885	62	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37903769	37903769	18595	19	C	A	A	A	377	29	ZNF569	2	2
FCGBP	8857	broad.mit.edu	37	19	40367914	40367914	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40367914T>C	uc002omp.3	-	c.13046A>G	c.(13045-13047)GAG>GGG	p.E4349G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4349						extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.341176	94.264169	96.151827	29	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40367914	40367914	6015	19	T	C	C	C	702	54	FCGBP	4	4
CYP2A7	1549	broad.mit.edu	37	19	41386491	41386491	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41386491C>A	uc002opm.2	-	c.386G>T	c.(385-387)CGC>CTC	p.R129L	CYP2A7_uc002opo.2_Missense_Mutation_p.R129L|CYP2A7_uc002opn.2_Missense_Mutation_p.R78L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	129					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)							177				0.142857	16.545714	24.278178	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41386491	41386491	4328	19	C	A	A	A	351	27	CYP2A7	1	1
FOXA3	3171	broad.mit.edu	37	19	46376130	46376130	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46376130A>T	uc002pdr.2	+	c.867A>T	c.(865-867)CCA>CCT	p.P289P		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	289					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)										0.491228	91.712092	91.7154	28	29	KEEP	---	---	---	---	capture		Silent	SNP	46376130	46376130	6233	19	A	T	T	T	80	7	FOXA3	3	3
LIG1	3978	broad.mit.edu	37	19	48620931	48620931	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48620931G>A	uc002pia.1	-	c.2547C>T	c.(2545-2547)CTC>CTT	p.L849L	LIG1_uc010xze.1_Silent_p.L542L|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.L781L|LIG1_uc010xzg.1_Silent_p.L818L	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	849					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.285714	11.794432	12.371133	4	10	KEEP	---	---	---	---	capture		Silent	SNP	48620931	48620931	9107	19	G	A	A	A	418	33	LIG1	2	2
SLC6A16	28968	broad.mit.edu	37	19	49814442	49814442	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49814442G>A	uc002pmz.2	-	c.163C>T	c.(163-165)CGG>TGG	p.R55W	SLC6A16_uc002pna.2_Missense_Mutation_p.R55W	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55	Cytoplasmic (Potential).					integral to plasma membrane|intracellular	neurotransmitter:sodium symporter activity			ovary(1)|kidney(1)	2		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)										0.18	20.245525	25.059936	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49814442	49814442	15176	19	G	A	A	A	506	39	SLC6A16	1	1
POLD1	5424	broad.mit.edu	37	19	50905742	50905742	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50905742A>G	uc010eny.2	+	c.790A>G	c.(790-792)AAC>GAC	p.N264D	POLD1_uc002psb.3_Missense_Mutation_p.N264D|POLD1_uc002psc.3_Missense_Mutation_p.N264D|POLD1_uc010enx.2_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	264					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			central_nervous_system(1)	1		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)										0.461538	20.750606	20.767116	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50905742	50905742	12618	19	A	G	G	G	65	5	POLD1	4	4
LILRB2	10288	broad.mit.edu	37	19	54783844	54783844	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54783844G>T	uc002qfb.2	-	c.157C>A	c.(157-159)CTT>ATT	p.L53I	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L53I|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Missense_Mutation_p.L53I|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	53	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.469231	195.162398	195.269718	61	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54783844	54783844	9117	19	G	T	T	T	455	35	LILRB2	2	2
GP6	51206	broad.mit.edu	37	19	55543670	55543670	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55543670C>G	uc002qil.2	-	c.162G>C	c.(160-162)GTG>GTC	p.V54V	GP6_uc002qik.2_Silent_p.V54V|GP6_uc010esq.2_Silent_p.V54V|RDH13_uc010esr.1_Intron	NM_001083899	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 1	54	Ig-like C2-type 1.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)										0.485714	58.974259	58.980459	17	18	KEEP	---	---	---	---	capture		Silent	SNP	55543670	55543670	6858	19	C	G	G	G	262	21	GP6	3	3
NLRP8	126205	broad.mit.edu	37	19	56490839	56490839	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56490839C>A	uc002qmh.2	+	c.2956C>A	c.(2956-2958)CTG>ATG	p.L986M	NLRP8_uc010etg.2_Missense_Mutation_p.L967M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	986	LRR 6.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.508834	459.202059	459.221405	144	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56490839	56490839	10886	19	C	A	A	A	415	32	NLRP8	2	2
OR1M1	125963	broad.mit.edu	37	19	9203967	9203967	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9203967G>T	uc010xkj.1	+	c.47G>T	c.(46-48)GGA>GTA	p.G16V		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.361702	100.222964	101.805872	34	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9203967	9203967	11374	19	G	T	T	T	533	41	OR1M1	2	2
OLFM3	118427	broad.mit.edu	37	1	102271669	102271669	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102271669C>A	uc001duf.2	-	c.722G>T	c.(721-723)TGG>TTG	p.W241L	OLFM3_uc001dug.2_Missense_Mutation_p.W221L|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.W146L|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	241	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.136691	35.62435	53.387255	19	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102271669	102271669	11259	1	C	A	A	A	273	21	OLFM3	2	2
EPS8L3	79574	broad.mit.edu	37	1	110294756	110294756	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110294756T>C	uc001dyq.1	-	c.1298A>G	c.(1297-1299)CAT>CGT	p.H433R	EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyr.1_Missense_Mutation_p.H432R|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	432						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)										0.24	130.707286	144.728404	54	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110294756	110294756	5390	1	T	C	C	C	663	51	EPS8L3	4	4
KCNA2	3737	broad.mit.edu	37	1	111146592	111146592	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111146592C>T	uc001dzu.2	-	c.813G>A	c.(811-813)GGG>GGA	p.G271G	KCNA2_uc009wfv.1_Silent_p.G271G|KCNA2_uc009wfw.2_Silent_p.G271G	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	271	Helical; Name=Segment S3; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		Pancreas(18;568 735 10587 23710 36357)								0.149533	30.826368	43.43166	16	91	KEEP	---	---	---	---	capture		Silent	SNP	111146592	111146592	8308	1	C	T	T	T	379	30	KCNA2	2	2
KCNA2	3737	broad.mit.edu	37	1	111147346	111147346	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111147346T>C	uc001dzu.2	-	c.59A>G	c.(58-60)CAG>CGG	p.Q20R	KCNA2_uc009wfv.1_Missense_Mutation_p.Q20R|KCNA2_uc009wfw.2_Missense_Mutation_p.Q20R	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	20						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		Pancreas(18;568 735 10587 23710 36357)								0.291045	104.872967	110.114198	39	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111147346	111147346	8308	1	T	C	C	C	715	55	KCNA2	4	4
C1orf103	55791	broad.mit.edu	37	1	111494316	111494316	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111494316T>C	uc001eaa.2	-	c.1190A>G	c.(1189-1191)CAG>CGG	p.Q397R	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	CA103_HUMAN	receptor-interacting factor 1 isoform 1	397							protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)										0.127346	153.047353	254.188668	95	651	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111494316	111494316	2044	1	T	C	C	C	715	55	C1orf103	4	4
DDX20	11218	broad.mit.edu	37	1	112308806	112308806	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112308806A>G	uc001ebs.2	+	c.1760A>G	c.(1759-1761)TAC>TGC	p.Y587C	DDX20_uc010owf.1_Missense_Mutation_p.Y349C|DDX20_uc001ebt.2_Missense_Mutation_p.Y195C	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	587					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.196078	82.667691	95.83233	30	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112308806	112308806	4519	1	A	G	G	G	182	14	DDX20	4	4
PTCHD2	57540	broad.mit.edu	37	1	11596438	11596438	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11596438G>T	uc001ash.3	+	c.3874G>T	c.(3874-3876)GCC>TCC	p.A1292S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1292	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)										0.346939	47.363199	48.375173	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11596438	11596438	13187	1	G	T	T	T	546	42	PTCHD2	2	2
INSRR	3645	broad.mit.edu	37	1	156823768	156823768	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156823768G>T	uc010pht.1	-	c.413C>A	c.(412-414)GCT>GAT	p.A138D	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A138D	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	138					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.285714	26.032467	27.476823	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156823768	156823768	8075	1	G	T	T	T	442	34	INSRR	2	2
OR10T2	128360	broad.mit.edu	37	1	158368853	158368853	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158368853A>C	uc010pih.1	-	c.404T>G	c.(403-405)CTC>CGC	p.L135R		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.170588	66.266166	83.714053	29	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158368853	158368853	11325	1	A	C	C	C	143	11	OR10T2	4	4
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158735615G>A	uc010piq.1	-	c.858C>T	c.(856-858)AAC>AAT	p.N286N		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.22577	471.063493	531.790381	198	679	KEEP	---	---	---	---	capture		Silent	SNP	158735615	158735615	11616	1	G	A	A	A	568	44	OR6N1	2	2
SLAMF9	89886	broad.mit.edu	37	1	159923368	159923368	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159923368G>T	uc001fus.2	-	c.122C>A	c.(121-123)CCC>CAC	p.P41H	SLAMF9_uc009wtd.2_Missense_Mutation_p.P41H|SLAMF9_uc001fut.2_Missense_Mutation_p.P41H	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	41	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.257862	110.495571	118.947341	41	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159923368	159923368	14866	1	G	T	T	T	559	43	SLAMF9	2	2
FCRLB	127943	broad.mit.edu	37	1	161692781	161692781	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161692781C>A	uc001gbh.2	+	c.34C>A	c.(34-36)CCA>ACA	p.P12T	FCRLB_uc009wus.2_Missense_Mutation_p.P12T|FCRLB_uc001gbj.2_Missense_Mutation_p.P12T|FCRLB_uc001gbk.2_Missense_Mutation_p.P12T|FCRLB_uc001gbl.2_Intron|FCRLB_uc001gbm.2_Intron|FCRLB_uc001gbi.2_Missense_Mutation_p.P12T|FCRLB_uc001gbn.3_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	12						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)											0.303226	130.367627	135.723666	47	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161692781	161692781	6038	1	C	A	A	A	390	30	FCRLB	2	2
RGS4	5999	broad.mit.edu	37	1	163043250	163043250	+	Silent	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163043250G>C	uc001gcl.3	+	c.507G>C	c.(505-507)GGG>GGC	p.G169G	RGS4_uc009wuy.2_Silent_p.G72G|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.G54G	NM_001102445	NP_001095915	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 1	72	RGS.				inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						Ovarian(76;1257 1738 3039 6086)								0.204188	109.315001	124.825377	39	152	KEEP	---	---	---	---	capture		Silent	SNP	163043250	163043250	13781	1	G	C	C	C	535	42	RGS4	3	3
RGS5	8490	broad.mit.edu	37	1	163172591	163172591	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163172591C>A	uc001gcn.2	-	c.35G>T	c.(34-36)TGC>TTC	p.C12F	RGS5_uc009wvb.2_Non-coding_Transcript	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	12					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)											0.346154	84.201109	85.831293	27	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163172591	163172591	13782	1	C	A	A	A	325	25	RGS5	2	2
MAEL	84944	broad.mit.edu	37	1	166973415	166973415	+	Splice_Site_SNP	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166973415A>G	uc001gdy.1	+	c.524_splice	c.e6-2	p.S175_splice	MAEL_uc001gdz.1_Splice_Site_SNP_p.S144_splice|MAEL_uc009wvf.1_Splice_Site_SNP	NM_032858	NP_116247			maelstrom homolog						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1														0.14359	48.360663	72.229049	28	167	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	166973415	166973415	9531	1	A	G	G	G	91	7	MAEL	5	4
SPATA21	374955	broad.mit.edu	37	1	16727321	16727321	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16727321C>T	uc001ayn.2	-	c.1068G>A	c.(1066-1068)CGG>CGA	p.R356R	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.1_Silent_p.R333R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	356							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)										0.24183	96.397394	105.69864	37	116	KEEP	---	---	---	---	capture		Silent	SNP	16727321	16727321	15515	1	C	T	T	T	327	26	SPATA21	2	2
XCL1	6375	broad.mit.edu	37	1	168550295	168550295	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168550295T>C	uc001gfo.1	+	c.182T>C	c.(181-183)ATT>ACT	p.I61T		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	61					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of T-helper 1 type immune response|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|signal transduction|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)													0.387097	162.476611	163.860181	48	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168550295	168550295	18004	1	T	C	C	C	676	52	XCL1	4	4
C1orf156	92342	broad.mit.edu	37	1	169761944	169761944	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169761944T>C	uc001ggn.2	-	c.893A>G	c.(892-894)AAC>AGC	p.N298S	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	298						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.194444	19.406377	22.53931	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169761944	169761944	2073	1	T	C	C	C	780	60	C1orf156	4	4
TNN	63923	broad.mit.edu	37	1	175063368	175063368	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175063368G>A	uc001gkl.1	+	c.1567G>A	c.(1567-1569)GCT>ACT	p.A523T	TNN_uc010pmx.1_Missense_Mutation_p.A523T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	523	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.150442	34.595853	47.831425	17	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175063368	175063368	16864	1	G	A	A	A	442	34	TNN	2	2
TNR	7143	broad.mit.edu	37	1	175331897	175331897	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175331897G>C	uc001gkp.1	-	c.2756C>G	c.(2755-2757)ACC>AGC	p.T919S	TNR_uc009wwu.1_Missense_Mutation_p.T919S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	919	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.22467	144.888304	160.71789	51	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175331897	175331897	16879	1	G	C	C	C	572	44	TNR	3	3
PAPPA2	60676	broad.mit.edu	37	1	176564340	176564340	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176564340G>T	uc001gkz.2	+	c.1600G>T	c.(1600-1602)GAT>TAT	p.D534Y	PAPPA2_uc001gky.1_Missense_Mutation_p.D534Y|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	534	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.386905	199.534982	201.418683	65	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176564340	176564340	11850	1	G	T	T	T	585	45	PAPPA2	2	2
LAMC2	3918	broad.mit.edu	37	1	183189974	183189974	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183189974A>T	uc001gqa.2	+	c.518A>T	c.(517-519)TAC>TTC	p.Y173F	LAMC2_uc001gpz.3_Missense_Mutation_p.Y173F|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	173	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1														0.310345	55.23195	57.088331	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183189974	183189974	8938	1	A	T	T	T	182	14	LAMC2	3	3
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183885633C>T	uc001gqm.2	+	c.1907C>T	c.(1906-1908)TCC>TTC	p.S636F	RGL1_uc010pog.1_Missense_Mutation_p.S599F|RGL1_uc010poh.1_Missense_Mutation_p.S599F|RGL1_uc001gqo.2_Missense_Mutation_p.S601F|RGL1_uc010poi.1_Missense_Mutation_p.S572F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	601	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.143519	56.082529	82.516547	31	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183885633	183885633	13749	1	C	T	T	T	390	30	RGL1	2	2
RGS1	5996	broad.mit.edu	37	1	192547444	192547445	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192547444_192547445GA>AG	uc001gsi.1	+	c.373_374GA>AG	c.(373-375)GAG>AGG	p.E125R	RGS1_uc010pou.1_Missense_Mutation_p.E125R	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	125	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)												0.273148	168.787702	178.839499	59	157	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	192547444	192547445	13766	1	GA	AG	AG	AG	429	33	RGS1	2	2
CFHR5	81494	broad.mit.edu	37	1	196971714	196971714	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196971714G>T	uc001gts.3	+	c.1250G>T	c.(1249-1251)TGT>TTT	p.C417F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	417	Sushi 7.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.1875	13.62964	16.557007	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196971714	196971714	3421	1	G	T	T	T	624	48	CFHR5	2	2
PLA2G2A	5320	broad.mit.edu	37	1	20304613	20304613	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20304613A>T	uc001bcu.2	-	c.187T>A	c.(187-189)TGC>AGC	p.C63S	PLA2G2A_uc001bcv.2_Missense_Mutation_p.C63S|PLA2G2A_uc010oda.1_Missense_Mutation_p.C63S|PLA2G2A_uc010odb.1_Missense_Mutation_p.C63S	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	63					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)										0.279279	175.658006	185.382316	62	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20304613	20304613	12421	1	A	T	T	T	91	7	PLA2G2A	3	3
SLC45A3	85414	broad.mit.edu	37	1	205631992	205631992	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205631992C>G	uc001hda.1	-	c.927G>C	c.(925-927)CCG>CCC	p.P309P	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Silent_p.P143P|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	309					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)							123				0.197183	32.345012	38.383658	14	57	KEEP	---	---	---	---	capture		Silent	SNP	205631992	205631992	15139	1	C	G	G	G	288	23	SLC45A3	3	3
CR1L	1379	broad.mit.edu	37	1	207867885	207867885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207867885G>A	uc001hga.3	+	c.651G>A	c.(649-651)TGG>TGA	p.W217*	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	217	Sushi 3.					cytoplasm|extracellular region|membrane					0														0.084359	18.336923	118.142077	48	521	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	207867885	207867885	3980	1	G	A	A	A	533	41	CR1L	5	2
USH2A	7399	broad.mit.edu	37	1	216052133	216052133	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216052133G>C	uc001hku.1	-	c.8531C>G	c.(8530-8532)CCA>CGA	p.P2844R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2844	Extracellular (Potential).|Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.222222	57.553478	63.939835	20	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216052133	216052133	17598	1	G	C	C	C	611	47	USH2A	3	3
LIN9	286826	broad.mit.edu	37	1	226426782	226426782	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226426782G>A	uc001hqa.2	-	c.1183C>T	c.(1183-1185)CCC>TCC	p.P395S	LIN9_uc001hqb.2_Missense_Mutation_p.P360S|LIN9_uc001hqc.2_Missense_Mutation_p.P327S|LIN9_uc009xel.1_Missense_Mutation_p.P360S	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	379	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		Ovarian(197;1696 2974 11248 14117)								0.118812	16.724981	31.13832	12	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226426782	226426782	9140	1	G	A	A	A	546	42	LIN9	2	2
ZBTB40	9923	broad.mit.edu	37	1	22837737	22837737	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22837737C>A	uc001bft.2	+	c.1899C>A	c.(1897-1899)GCC>GCA	p.A633A	ZBTB40_uc001bfu.2_Silent_p.A633A|ZBTB40_uc009vqi.1_Silent_p.A521A|ZBTB40_uc001bfv.1_Silent_p.A262A	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)										0.170213	52.307418	66.817482	24	117	KEEP	---	---	---	---	capture		Silent	SNP	22837737	22837737	18128	1	C	A	A	A	262	21	ZBTB40	2	2
OBSCN	84033	broad.mit.edu	37	1	228509331	228509331	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228509331G>T	uc009xez.1	+	c.14789G>T	c.(14788-14790)CGC>CTC	p.R4930L	OBSCN_uc001hsn.2_Missense_Mutation_p.R4930L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4930	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.393939	37.964942	38.290554	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228509331	228509331	11217	1	G	T	T	T	494	38	OBSCN	1	1
AGT	183	broad.mit.edu	37	1	230845985	230845985	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230845985C>A	uc001hty.3	-	c.612G>T	c.(610-612)CTG>CTT	p.L204L	AGT_uc009xfe.2_Silent_p.L204L|AGT_uc009xff.2_Silent_p.L176L	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	204					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|oxygen and reactive oxygen species metabolic process|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|regulation of natriuresis|regulation of proteolysis|regulation of renal output by angiotensin|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)									0.209302	20.948897	24.314374	9	34	KEEP	---	---	---	---	capture		Silent	SNP	230845985	230845985	402	1	C	A	A	A	314	25	AGT	2	2
RYR2	6262	broad.mit.edu	37	1	237802406	237802406	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237802406G>A	uc001hyl.1	+	c.7020G>A	c.(7018-7020)GGG>GGA	p.G2340G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2340	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.25	61.559213	67.00987	24	72	KEEP	---	---	---	---	capture		Silent	SNP	237802406	237802406	14249	1	G	A	A	A	522	41	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237948113	237948114	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237948113_237948114GG>TT	uc001hyl.1	+	c.13101_13102GG>TT	c.(13099-13104)AAGGAG>AATTAG	p.4367_4368KE>N*	RYR2_uc010pya.1_Nonsense_Mutation_p.782_783KE>N*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4367_4368					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.359155	163.586293	166.066468	51	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	237948113	237948114	14249	1	GG	TT	TT	TT	451	35	RYR2	5	2
FMN2	56776	broad.mit.edu	37	1	240493928	240493928	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240493928T>C	uc010pye.1	+	c.4475T>C	c.(4474-4476)ATG>ACG	p.M1492T	FMN2_uc010pyd.1_Missense_Mutation_p.M1488T|FMN2_uc010pyf.1_Missense_Mutation_p.M134T|FMN2_uc010pyg.1_Missense_Mutation_p.M84T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1488	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.43609	198.847312	199.317366	58	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240493928	240493928	6192	1	T	C	C	C	663	51	FMN2	4	4
EXO1	9156	broad.mit.edu	37	1	242048689	242048689	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242048689G>T	uc001hzh.2	+	c.2285G>T	c.(2284-2286)AGA>ATA	p.R762I	EXO1_uc001hzi.2_Missense_Mutation_p.R762I|EXO1_uc001hzj.2_Missense_Mutation_p.R762I|EXO1_uc009xgq.2_Missense_Mutation_p.R761I	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	762	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)											0.285714	32.981578	34.712812	12	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242048689	242048689	5493	1	G	T	T	T	429	33	EXO1	2	2
OR2G2	81470	broad.mit.edu	37	1	247751695	247751695	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247751695C>G	uc010pyy.1	+	c.34C>G	c.(34-36)CTA>GTA	p.L12V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.381538	394.004629	398.010856	124	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247751695	247751695	11404	1	C	G	G	G	311	24	OR2G2	3	3
SH3BP5L	80851	broad.mit.edu	37	1	249107312	249107312	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249107312C>A	uc001iew.1	-	c.587G>T	c.(586-588)CGA>CTA	p.R196L	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R89L|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R164L|SH3BP5L_uc001iev.1_Missense_Mutation_p.R77L	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)											0.333333	11.696094	11.991255	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249107312	249107312	14739	1	C	A	A	A	403	31	SH3BP5L	1	1
LIN28A	79727	broad.mit.edu	37	1	26738039	26738039	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26738039C>T	uc001bmj.2	+	c.194C>T	c.(193-195)GCG>GTG	p.A65V	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	65	CSD.				miRNA catabolic process|pre-microRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.301587	54.6029	56.816408	19	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26738039	26738039	9132	1	C	T	T	T	351	27	LIN28A	1	1
CSMD2	114784	broad.mit.edu	37	1	34554714	34554714	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34554714C>A	uc001bxm.1	-	c.268G>T	c.(268-270)GCC>TCC	p.A90S	CSMD2_uc001bxn.1_Missense_Mutation_p.A50S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	50	CUB 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.280576	102.612142	108.673806	39	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34554714	34554714	4086	1	C	A	A	A	351	27	CSMD2	1	1
NCDN	23154	broad.mit.edu	37	1	36029491	36029491	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36029491G>A	uc001bza.2	+	c.1734G>A	c.(1732-1734)CGG>CGA	p.R578R	NCDN_uc001bzb.2_Silent_p.R578R|NCDN_uc001bzc.2_Silent_p.R561R	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	578					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.411765	41.843885	42.075029	14	20	KEEP	---	---	---	---	capture		Silent	SNP	36029491	36029491	10613	1	G	A	A	A	535	42	NCDN	2	2
MACF1	23499	broad.mit.edu	37	1	39765882	39765882	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39765882G>C	uc010ois.1	+	c.2497G>C	c.(2497-2499)GAT>CAT	p.D833H	MACF1_uc001cda.1_Missense_Mutation_p.D741H|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	833	Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.098093	41.922499	101.256619	36	331	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39765882	39765882	9521	1	G	C	C	C	533	41	MACF1	3	3
MACF1	23499	broad.mit.edu	37	1	39788376	39788376	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39788376A>G	uc010ois.1	+	c.4141A>G	c.(4141-4143)ATC>GTC	p.I1381V	MACF1_uc001cda.1_Missense_Mutation_p.I1289V|MACF1_uc001cdc.1_Missense_Mutation_p.I468V|MACF1_uc009vvq.1_Missense_Mutation_p.I438V|MACF1_uc001cdb.1_Missense_Mutation_p.I468V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1381					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.333333	130.965284	134.098081	43	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39788376	39788376	9521	1	A	G	G	G	104	8	MACF1	4	4
EDN2	1907	broad.mit.edu	37	1	41948217	41948217	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41948217C>T	uc001cgx.2	-	c.264G>A	c.(262-264)CGG>CGA	p.R88R	EDN2_uc001cgu.2_Non-coding_Transcript|EDN2_uc001cgv.2_Non-coding_Transcript|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_Non-coding_Transcript|EDN2_uc009vwi.2_Intron|EDN2_uc009vwj.2_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	endothelin 2 preproprotein	88					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.636364	22.225862	22.405465	7	4	KEEP	---	---	---	---	capture		Silent	SNP	41948217	41948217	5104	1	C	T	T	T	327	26	EDN2	2	2
NRD1	4898	broad.mit.edu	37	1	52301803	52301803	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52301803T>C	uc001ctc.3	-	c.916A>G	c.(916-918)ATG>GTG	p.M306V	NRD1_uc009vzb.2_Missense_Mutation_p.M1V|NRD1_uc001ctd.3_Missense_Mutation_p.M238V|NRD1_uc001cte.2_Missense_Mutation_p.M174V|NRD1_uc001ctf.2_Missense_Mutation_p.M238V|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.M106V	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	237					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.366667	35.417414	35.886268	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52301803	52301803	11050	1	T	C	C	C	715	55	NRD1	4	4
ZFYVE9	9372	broad.mit.edu	37	1	52704107	52704107	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52704107C>T	uc001cto.2	+	c.1018C>T	c.(1018-1020)CTT>TTT	p.L340F	ZFYVE9_uc001ctn.2_Missense_Mutation_p.L340F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L340F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	340					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.282051	87.522558	92.518354	33	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52704107	52704107	18261	1	C	T	T	T	364	28	ZFYVE9	2	2
TTC22	55001	broad.mit.edu	37	1	55266541	55266541	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55266541T>C	uc009vzt.1	-	c.296A>G	c.(295-297)AAC>AGC	p.N99S	TTC22_uc001cxz.3_Missense_Mutation_p.N99S	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	99	TPR 1.						binding				0														0.230769	8.918863	9.781796	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55266541	55266541	17243	1	T	C	C	C	780	60	TTC22	4	4
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68512673C>A	uc001ded.2	-	c.308G>T	c.(307-309)CGC>CTC	p.R103L		NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0														0.23185	254.884083	283.03557	99	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68512673	68512673	4711	1	C	A	A	A	351	27	DIRAS3	1	1
NEGR1	257194	broad.mit.edu	37	1	72163734	72163734	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:72163734A>T	uc001dfw.2	-	c.624T>A	c.(622-624)GAT>GAA	p.D208E	NEGR1_uc001dfv.2_Missense_Mutation_p.D80E|NEGR1_uc010oqs.1_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	208	Ig-like C2-type 2.			D -> A (in Ref. 2).	cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)										0.152174	30.889328	41.542403	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72163734	72163734	10716	1	A	T	T	T	102	8	NEGR1	3	3
ZZZ3	26009	broad.mit.edu	37	1	78098634	78098634	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78098634G>A	uc001dhq.2	-	c.406C>T	c.(406-408)CCT>TCT	p.P136S	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P136S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P136S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5														0.261062	163.51312	175.19689	59	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78098634	78098634	18862	1	G	A	A	A	533	41	ZZZ3	2	2
GBP3	2635	broad.mit.edu	37	1	89481013	89481013	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89481013G>A	uc001dmt.2	-	c.275C>T	c.(274-276)ACC>ATC	p.T92I	GBP3_uc010oss.1_Missense_Mutation_p.T13I|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	92						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)										0.096774	24.551027	75.027883	30	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89481013	89481013	6541	1	G	A	A	A	572	44	GBP3	2	2
GBP3	2635	broad.mit.edu	37	1	89481019	89481019	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89481019T>G	uc001dmt.2	-	c.269A>C	c.(268-270)GAA>GCA	p.E90A	GBP3_uc010oss.1_Missense_Mutation_p.E11A|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_Non-coding_Transcript	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	90						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)										0.09772	38.617116	88.348902	30	277	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89481019	89481019	6541	1	T	G	G	G	806	62	GBP3	4	4
ZNF644	84146	broad.mit.edu	37	1	91406850	91406850	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91406850C>A	uc001dnw.2	-	c.61G>T	c.(61-63)GGG>TGG	p.G21W	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G21W	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)										0.24	64.248137	70.418987	24	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91406850	91406850	18655	1	C	A	A	A	273	21	ZNF644	2	2
LPPR5	163404	broad.mit.edu	37	1	99470209	99470209	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99470209C>T	uc001dsb.2	-	c.19G>A	c.(19-21)GCG>ACG	p.A7T	LPPR5_uc001dsc.2_Missense_Mutation_p.A7T	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	7						integral to membrane	hydrolase activity				0														0.269841	45.044897	48.05733	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99470209	99470209	9301	1	C	T	T	T	338	26	LPPR5	2	2
SSTR4	6754	broad.mit.edu	37	20	23016252	23016252	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23016252G>T	uc002wsr.2	+	c.132G>T	c.(130-132)GCG>GCT	p.A44A		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	44	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					Esophageal Squamous(15;850 1104 16640)								0.375	27.872089	28.200129	9	15	KEEP	---	---	---	---	capture		Silent	SNP	23016252	23016252	15716	20	G	T	T	T	496	39	SSTR4	1	1
ZNF343	79175	broad.mit.edu	37	20	2464027	2464027	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2464027C>A	uc002wge.1	-	c.1580G>T	c.(1579-1581)GGG>GTG	p.G527V	ZNF343_uc010gao.1_Missense_Mutation_p.G527V|ZNF343_uc002wgd.1_Missense_Mutation_p.G437V	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	527	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.289474	156.346671	163.895178	55	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2464027	2464027	18450	20	C	A	A	A	286	22	ZNF343	2	2
C20orf185	359710	broad.mit.edu	37	20	31661396	31661396	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31661396G>T	uc002wym.1	+	c.1416G>T	c.(1414-1416)CTG>CTT	p.L472L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	472					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.311947	405.153775	419.363212	141	311	KEEP	---	---	---	---	capture		Silent	SNP	31661396	31661396	2175	20	G	T	T	T	574	45	C20orf185	2	2
ATRN	8455	broad.mit.edu	37	20	3529820	3529820	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3529820C>A	uc002wim.2	+	c.947C>A	c.(946-948)CCT>CAT	p.P316H	ATRN_uc002wil.2_Missense_Mutation_p.P316H	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	316	Extracellular (Potential).				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.241935	237.361684	259.958416	90	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3529820	3529820	1225	20	C	A	A	A	312	24	ATRN	2	2
EMILIN3	90187	broad.mit.edu	37	20	39990391	39990391	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39990391G>T	uc002xjy.1	-	c.1818C>A	c.(1816-1818)AGC>AGA	p.S606R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	606						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.393939	78.034359	78.684766	26	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39990391	39990391	5287	20	G	T	T	T	542	42	EMILIN3	2	2
PIGT	51604	broad.mit.edu	37	20	44047576	44047576	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44047576A>T	uc002xoh.1	+	c.450A>T	c.(448-450)ACA>ACT	p.T150T	PIGT_uc010ghb.1_Silent_p.T140T|PIGT_uc010zwt.1_Intron|PIGT_uc010ghd.1_Missense_Mutation_p.Q91L|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Intron|PIGT_uc010ghf.1_Missense_Mutation_p.Q137L|PIGT_uc002xoj.1_Silent_p.T150T|PIGT_uc002xok.1_Silent_p.T150T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_Non-coding_Transcript|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Intron|PIGT_uc010zwx.1_Missense_Mutation_p.Q19L|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	150	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)												0.404858	325.951343	327.906128	100	147	KEEP	---	---	---	---	capture		Silent	SNP	44047576	44047576	12323	20	A	T	T	T	80	7	PIGT	3	3
WFDC11	259239	broad.mit.edu	37	20	44278014	44278014	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44278014C>T	uc002xpa.2	-	c.125G>A	c.(124-126)TGC>TAC	p.C42Y		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11 precursor	42						extracellular region					0		Myeloproliferative disorder(115;0.0122)												0.245823	260.823604	285.47025	103	316	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44278014	44278014	17923	20	C	T	T	T	325	25	WFDC11	2	2
SLC12A5	57468	broad.mit.edu	37	20	44671860	44671860	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44671860C>A	uc010zxl.1	+	c.1204C>A	c.(1204-1206)CTG>ATG	p.L402M	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L379M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	402	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.089431	26.148663	130.921902	55	560	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44671860	44671860	14881	20	C	A	A	A	311	24	SLC12A5	2	2
PHACTR3	116154	broad.mit.edu	37	20	58318161	58318161	+	Splice_Site_SNP	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58318161G>A	uc002yau.2	+	c.119_splice	c.e2-1	p.D40_splice	PHACTR3_uc002yat.2_Splice_Site_SNP_p.D37_splice|PHACTR3_uc010zzw.1_Splice_Site_SNP|PHACTR3_uc002yav.2_Splice_Site_SNP|PHACTR3_uc002yaw.2_Splice_Site_SNP|PHACTR3_uc002yax.2_Splice_Site_SNP	NM_080672	NP_542403			phosphatase and actin regulator 3 isoform 1							nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)											0.390805	109.03196	109.940124	34	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58318161	58318161	12234	20	G	A	A	A	429	33	PHACTR3	5	2
TPTE	7179	broad.mit.edu	37	21	10942755	10942755	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10942755C>A	uc002yip.1	-	c.686G>T	c.(685-687)CGA>CTA	p.R229L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R211L|TPTE_uc002yir.1_Missense_Mutation_p.R191L|TPTE_uc010gkv.1_Missense_Mutation_p.R91L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	229	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.101839	77.201241	189.203467	72	635	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10942755	10942755	16974	21	C	A	A	A	403	31	TPTE	1	1
KRTAP10-2	386679	broad.mit.edu	37	21	45970637	45970637	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45970637G>C	uc002zfi.1	-	c.705C>G	c.(703-705)TGC>TGG	p.C235W	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	235						keratin filament				large_intestine(1)	1														0.448718	113.591576	113.773136	35	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45970637	45970637	8824	21	G	C	C	C	542	42	KRTAP10-2	3	3
PRODH	5625	broad.mit.edu	37	22	18905888	18905888	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18905888C>T	uc010grl.2	-	c.1368G>A	c.(1366-1368)GAG>GAA	p.E456E	PRODH_uc002zoj.3_Silent_p.E346E|PRODH_uc002zol.3_Silent_p.E346E|PRODH_uc002zok.3_Silent_p.E456E	NM_016335	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase 1	456				AE -> Q (in Ref. 7; AAC39529).	glutamate biosynthetic process|induction of apoptosis by oxidative stress|oxidation-reduction process|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)	1					L-Proline(DB00172)									0.150943	16.263311	22.451056	8	45	KEEP	---	---	---	---	capture		Silent	SNP	18905888	18905888	12991	22	C	T	T	T	415	32	PRODH	2	2
LGALS2	3957	broad.mit.edu	37	22	37966600	37966600	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37966600G>T	uc003ata.2	-	c.232C>A	c.(232-234)CCA>ACA	p.P78T		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin.									breast(1)	1	Melanoma(58;0.0574)					GBM(193;1840 2185 13711 20676 24505)								0.229508	69.333595	77.520348	28	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37966600	37966600	9067	22	G	T	T	T	559	43	LGALS2	2	2
GCAT	23464	broad.mit.edu	37	22	38212280	38212280	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38212280G>T	uc003aua.1	+	c.1138G>T	c.(1138-1140)GGT>TGT	p.G380C	GCAT_uc003atz.2_Missense_Mutation_p.G354C	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	354					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.171429	12.327397	15.899962	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38212280	38212280	6550	22	G	T	T	T	559	43	GCAT	2	2
FBLN1	2192	broad.mit.edu	37	22	45958897	45958897	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45958897G>A	uc010gzz.2	+	c.1917G>A	c.(1915-1917)GCG>GCA	p.A639A	FBLN1_uc003bgh.2_Silent_p.A601A|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	fibulin 1 isoform C precursor	614					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.192308	12.159909	14.458397	5	21	KEEP	---	---	---	---	capture		Silent	SNP	45958897	45958897	5934	22	G	A	A	A	496	39	FBLN1	1	1
AFF3	3899	broad.mit.edu	37	2	100210522	100210522	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:100210522C>T	uc002taf.2	-	c.1676G>A	c.(1675-1677)AGG>AAG	p.R559K	AFF3_uc002tag.2_Missense_Mutation_p.R534K|AFF3_uc010fiq.1_Missense_Mutation_p.R534K|AFF3_uc010yvr.1_Missense_Mutation_p.R687K|AFF3_uc002tah.1_Missense_Mutation_p.R559K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 2	534					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6										693				0.447761	102.142764	102.301969	30	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100210522	100210522	359	2	C	T	T	T	312	24	AFF3	2	2
NMS	129521	broad.mit.edu	37	2	101093874	101093874	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101093874G>A	uc002tan.1	+	c.259G>A	c.(259-261)GGG>AGG	p.G87R		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	87					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.24	35.074742	38.159447	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101093874	101093874	10905	2	G	A	A	A	611	47	NMS	2	2
PTPN4	5775	broad.mit.edu	37	2	120723109	120723109	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120723109A>G	uc002tmf.1	+	c.2446A>G	c.(2446-2448)ATA>GTA	p.I816V	PTPN4_uc010flj.1_Missense_Mutation_p.I529V|PTPN4_uc010yyr.1_Missense_Mutation_p.I449V	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	816	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)									0.384181	201.65554	203.737955	68	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120723109	120723109	13247	2	A	G	G	G	104	8	PTPN4	4	4
NCKAP5	344148	broad.mit.edu	37	2	133489461	133489461	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133489461C>A	uc002ttp.2	-	c.5292G>T	c.(5290-5292)ATG>ATT	p.M1764I	NCKAP5_uc002ttq.2_Missense_Mutation_p.M445I	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1764							protein binding				0														0.112903	25.994311	62.735092	28	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133489461	133489461	10622	2	C	A	A	A	377	29	NCKAP5	2	2
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141032165C>A	uc002tvj.1	-	c.12970G>T	c.(12970-12972)GTG>TTG	p.V4324L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4324	Extracellular (Potential).|EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.428571	126.093061	126.465598	36	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141032165	141032165	9328	2	C	A	A	A	247	19	LRP1B	1	1
FAP	2191	broad.mit.edu	37	2	163055370	163055370	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163055370A>T	uc002ucd.2	-	c.1299T>A	c.(1297-1299)CCT>CCA	p.P433P	FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Silent_p.P408P|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	433	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.099174	9.904831	29.347125	12	109	KEEP	---	---	---	---	capture		Silent	SNP	163055370	163055370	5909	2	A	T	T	T	132	11	FAP	3	3
SCN9A	6335	broad.mit.edu	37	2	167168167	167168167	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167168167C>G	uc010fpl.2	-	c.100G>C	c.(100-102)GAA>CAA	p.E34Q		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	34						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.130841	82.44512	124.96137	42	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167168167	167168167	14407	2	C	G	G	G	390	30	SCN9A	3	3
XIRP2	129446	broad.mit.edu	37	2	168100642	168100642	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100642T>C	uc002udx.2	+	c.2740T>C	c.(2740-2742)TGG>CGG	p.W914R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.W739R|XIRP2_uc010fpq.2_Missense_Mutation_p.W692R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	739	Xin 11.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.403846	65.864199	66.284646	21	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168100642	168100642	18011	2	T	C	C	C	663	51	XIRP2	4	4
TTN	7273	broad.mit.edu	37	2	179395627	179395627	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179395627G>T	uc010zfg.1	-	c.98011C>A	c.(98011-98013)CCT>ACT	p.P32671T	TTN_uc010zfh.1_Missense_Mutation_p.P26366T|TTN_uc010zfi.1_Missense_Mutation_p.P26299T|TTN_uc010zfj.1_Missense_Mutation_p.P26174T|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1407										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.340659	179.592281	183.677486	62	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179395627	179395627	17290	2	G	T	T	T	546	42	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179497651	179497651	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179497651C>A	uc010zfg.1	-	c.35503G>T	c.(35503-35505)GTG>TTG	p.V11835L	TTN_uc010zfh.1_Missense_Mutation_p.V5530L|TTN_uc010zfi.1_Missense_Mutation_p.V5463L|TTN_uc010zfj.1_Missense_Mutation_p.V5338L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2168										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.111702	27.62903	55.643998	21	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179497651	179497651	17290	2	C	A	A	A	260	20	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179550274G>A	uc010zfg.1	-	c.28631C>T	c.(28630-28632)TCT>TTT	p.S9544F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6205F|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	899										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.372093	51.888788	52.506933	16	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179550274	179550274	17290	2	G	A	A	A	429	33	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179639767	179639767	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179639767G>T	uc010zfg.1	-	c.6671C>A	c.(6670-6672)TCT>TAT	p.S2224Y	TTN_uc010zfh.1_Missense_Mutation_p.S2178Y|TTN_uc010zfi.1_Missense_Mutation_p.S2178Y|TTN_uc010zfj.1_Missense_Mutation_p.S2178Y|TTN_uc002unb.2_Missense_Mutation_p.S2224Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2224										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.289308	130.081978	136.41028	46	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179639767	179639767	17290	2	G	T	T	T	429	33	TTN	2	2
HECW2	57520	broad.mit.edu	37	2	197182014	197182014	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197182014G>T	uc002utm.1	-	c.2418C>A	c.(2416-2418)GAC>GAA	p.D806E	HECW2_uc002utl.1_Missense_Mutation_p.D450E	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.266667	36.582285	38.793362	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197182014	197182014	7326	2	G	T	T	T	516	40	HECW2	1	1
HECW2	57520	broad.mit.edu	37	2	197184122	197184122	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197184122C>G	uc002utm.1	-	c.1492G>C	c.(1492-1494)GAT>CAT	p.D498H	HECW2_uc002utl.1_Missense_Mutation_p.D142H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	498					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.196721	30.261723	35.491913	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197184122	197184122	7326	2	C	G	G	G	377	29	HECW2	3	3
HECW2	57520	broad.mit.edu	37	2	197298062	197298062	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197298062T>A	uc002utm.1	-	c.86A>T	c.(85-87)CAG>CTG	p.Q29L		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	29					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.275862	116.235725	122.794952	40	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197298062	197298062	7326	2	T	A	A	A	715	55	HECW2	3	3
RFTN2	130132	broad.mit.edu	37	2	198482528	198482528	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198482528A>G	uc002uuo.3	-	c.1046T>C	c.(1045-1047)ATT>ACT	p.I349T		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	349						plasma membrane					0														0.233766	56.710093	61.704198	18	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198482528	198482528	13731	2	A	G	G	G	52	4	RFTN2	4	4
WDR35	57539	broad.mit.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20153619C>A	uc002rdi.2	-	c.1409G>T	c.(1408-1410)CGG>CTG	p.R470L	WDR35_uc002rdj.2_Missense_Mutation_p.R459L|WDR35_uc010ext.2_Non-coding_Transcript|WDR35_uc002rdh.2_Missense_Mutation_p.R35L|WDR35_uc002rdk.3_Missense_Mutation_p.R35L	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	470										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.124378	82.57926	138.006246	50	352	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20153619	20153619	17862	2	C	A	A	A	299	23	WDR35	1	1
MPP4	58538	broad.mit.edu	37	2	202549823	202549823	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202549823C>A	uc002uyk.3	-	c.538G>T	c.(538-540)GCC>TCC	p.A180S	MPP4_uc010ftj.2_Missense_Mutation_p.A180S|MPP4_uc010zhq.1_Missense_Mutation_p.A180S|MPP4_uc010zhr.1_Missense_Mutation_p.A180S|MPP4_uc010zhs.1_Missense_Mutation_p.A136S|MPP4_uc002uyj.3_Missense_Mutation_p.A136S|MPP4_uc010zht.1_Missense_Mutation_p.A153S|MPP4_uc002uyl.3_Non-coding_Transcript|MPP4_uc010ftk.2_Missense_Mutation_p.A180S|MPP4_uc002uym.1_Missense_Mutation_p.A149S|MPP4_uc002uyn.2_Missense_Mutation_p.A136S	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	180	PDZ.					cytoplasm	protein binding				0														0.282051	61.82013	65.147076	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202549823	202549823	10128	2	C	A	A	A	338	26	MPP4	2	2
DYTN	391475	broad.mit.edu	37	2	207527696	207527696	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207527696G>T	uc002vbr.1	-	c.1564C>A	c.(1564-1566)CTG>ATG	p.L522M		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	522	Potential.					plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.321154	480.872171	495.630214	167	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207527696	207527696	5047	2	G	T	T	T	438	34	DYTN	2	2
FASTKD2	22868	broad.mit.edu	37	2	207635937	207635937	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207635937G>C	uc002vbu.2	+	c.913G>C	c.(913-915)GAA>CAA	p.E305Q	FASTKD2_uc002vbv.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbx.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbw.1_Missense_Mutation_p.E305Q	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	305					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)	2				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)										0.2	71.97259	82.854804	26	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207635937	207635937	5922	2	G	C	C	C	429	33	FASTKD2	3	3
PIKFYVE	200576	broad.mit.edu	37	2	209141468	209141468	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209141468G>T	uc002vcz.2	+	c.355G>T	c.(355-357)GGT>TGT	p.G119C	PIKFYVE_uc010fun.1_De_novo_Start_InFrame|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G119C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.G119C|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	119					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.266272	127.59986	135.938865	45	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209141468	209141468	12348	2	G	T	T	T	455	35	PIKFYVE	2	2
SPEG	10290	broad.mit.edu	37	2	220333302	220333302	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220333302G>A	uc010fwg.2	+	c.3145G>A	c.(3145-3147)GAG>AAG	p.E1049K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1049	Ig-like 4.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.774194	241.04417	247.469147	72	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220333302	220333302	15548	2	G	A	A	A	585	45	SPEG	2	2
SPEG	10290	broad.mit.edu	37	2	220333307	220333307	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220333307G>A	uc010fwg.2	+	c.3150G>A	c.(3148-3150)CTG>CTA	p.L1050L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1050	Ig-like 4.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.783505	255.230738	262.413445	76	21	KEEP	---	---	---	---	capture		Silent	SNP	220333307	220333307	15548	2	G	A	A	A	574	45	SPEG	2	2
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227731981G>A	uc002voi.2	+	c.513G>A	c.(511-513)CCG>CCA	p.P171P	RHBDD1_uc010fxc.2_Silent_p.P171P	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)										0.260982	282.426928	302.41923	101	286	KEEP	---	---	---	---	capture		Silent	SNP	227731981	227731981	13791	2	G	A	A	A	470	37	RHBDD1	1	1
C2orf39	92749	broad.mit.edu	37	2	26676417	26676417	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26676417G>T	uc002rhg.2	+	c.1919G>T	c.(1918-1920)AGG>ATG	p.R640M		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	640											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.15	11.73433	16.422726	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26676417	26676417	2252	2	G	T	T	T	455	35	C2orf39	2	2
ALK	238	broad.mit.edu	37	2	29519878	29519878	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29519878A>G	uc002rmy.2	-	c.1693T>C	c.(1693-1695)TCC>CCC	p.S565P		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	565	MAM 2.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.125561	47.79061	78.281007	28	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29519878	29519878	528	2	A	G	G	G	130	10	ALK	4	4
HEATR5B	54497	broad.mit.edu	37	2	37302747	37302747	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37302747G>A	uc002rpp.1	-	c.478C>T	c.(478-480)CTA>TTA	p.L160L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	160							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.346341	220.871262	225.140869	71	134	KEEP	---	---	---	---	capture		Silent	SNP	37302747	37302747	7315	2	G	A	A	A	425	33	HEATR5B	2	2
CYP1B1	1545	broad.mit.edu	37	2	38297933	38297933	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38297933G>C	uc002rqo.2	-	c.1564C>G	c.(1564-1566)CTC>GTC	p.L522V		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	522					oxidation-reduction process|visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)					68				0.366197	89.931819	91.049434	26	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38297933	38297933	4316	2	G	C	C	C	429	33	CYP1B1	3	3
EML4	27436	broad.mit.edu	37	2	42530318	42530318	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42530318A>G	uc002rsi.2	+	c.1716A>G	c.(1714-1716)CGA>CGG	p.R572R	EML4_uc010fap.2_Silent_p.R514R|EML4_uc002rsj.2_Silent_p.R261R|EML4_uc010faq.2_5'UTR|EML4_uc010ynv.1_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	572					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(191)	lung(191)|ovary(2)|central_nervous_system(1)	194										780				0.14741	81.791609	111.792037	37	214	KEEP	---	---	---	---	capture		Silent	SNP	42530318	42530318	5291	2	A	G	G	G	106	9	EML4	4	4
COX7A2L	9167	broad.mit.edu	37	2	42578436	42578436	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42578436T>A	uc002rsk.2	-	c.268A>T	c.(268-270)ACC>TCC	p.T90S	COX7A2L_uc002rsl.2_Non-coding_Transcript	NM_004718	NP_004709	O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	90					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0														0.366492	205.592529	208.588174	70	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42578436	42578436	3919	2	T	A	A	A	767	59	COX7A2L	3	3
THADA	63892	broad.mit.edu	37	2	43768305	43768305	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43768305A>T	uc002rsw.3	-	c.3257T>A	c.(3256-3258)GTG>GAG	p.V1086E	THADA_uc010far.2_Missense_Mutation_p.V355E|THADA_uc002rsx.3_Missense_Mutation_p.V1086E|THADA_uc002rsy.3_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.2_Missense_Mutation_p.V795E|THADA_uc010fat.1_Missense_Mutation_p.V233E|THADA_uc002rta.2_Missense_Mutation_p.V796E	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1086							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)												0.364286	166.384592	168.653705	51	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43768305	43768305	16368	2	A	T	T	T	78	6	THADA	3	3
TTC7A	57217	broad.mit.edu	37	2	47256494	47256495	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47256494_47256495GG>TT	uc010fbb.2	+	c.1773_1774GG>TT	c.(1771-1776)ATGGCC>ATTTCC	p.591_592MA>IS	TTC7A_uc002rvm.2_Missense_Mutation_p.557_558MA>IS|TTC7A_uc002rvn.1_Missense_Mutation_p.472_473MA>IS|TTC7A_uc002rvo.2_Missense_Mutation_p.591_592MA>IS|TTC7A_uc010fbc.2_Missense_Mutation_p.237_238MA>IS|TTC7A_uc002rvp.2_Missense_Mutation_p.472_473MA>IS|TTC7A_uc002rvq.2_Missense_Mutation_p.331_332MA>IS|TTC7A_uc002rvr.2_Missense_Mutation_p.40_41MA>IS	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	591_592	TPR 6.						binding			breast(1)	1		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)											0.22	30.597763	34.207314	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47256494	47256495	17267	2	GG	TT	TT	TT	611	47	TTC7A	2	2
RTN4	57142	broad.mit.edu	37	2	55253145	55253145	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55253145A>G	uc002rye.2	-	c.2090T>C	c.(2089-2091)ATT>ACT	p.I697T	RTN4_uc002ryd.2_Missense_Mutation_p.I491T|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	697	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.384615	67.488397	68.095238	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55253145	55253145	14208	2	A	G	G	G	52	4	RTN4	4	4
RTN4	57142	broad.mit.edu	37	2	55253716	55253716	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55253716C>T	uc002rye.2	-	c.1519G>A	c.(1519-1521)GAG>AAG	p.E507K	RTN4_uc002ryd.2_Missense_Mutation_p.E301K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	507	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.189189	52.005213	62.039035	21	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55253716	55253716	14208	2	C	T	T	T	416	32	RTN4	2	2
AFTPH	54812	broad.mit.edu	37	2	64808353	64808353	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:64808353G>C	uc002sdc.2	+	c.2485G>C	c.(2485-2487)GAT>CAT	p.D829H	AFTPH_uc002scz.2_Missense_Mutation_p.D829H|AFTPH_uc002sda.2_Intron|AFTPH_uc002sdb.2_Intron	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	829	Clathrin-binding (Potential).				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2														0.230769	18.136215	19.863135	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64808353	64808353	365	2	G	C	C	C	585	45	AFTPH	3	3
ANTXR1	84168	broad.mit.edu	37	2	69304605	69304605	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69304605A>G	uc002sfg.2	+	c.627A>G	c.(625-627)CAA>CAG	p.Q209Q	ANTXR1_uc002sfe.2_Silent_p.Q209Q|ANTXR1_uc002sff.2_Silent_p.Q209Q|ANTXR1_uc002sfd.2_Silent_p.Q209Q	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	209	Extracellular (Potential).|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)	2														0.098214	52.265083	124.624426	44	404	KEEP	---	---	---	---	capture		Silent	SNP	69304605	69304605	719	2	A	G	G	G	37	3	ANTXR1	4	4
DCTN1	1639	broad.mit.edu	37	2	74597136	74597136	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74597136G>C	uc002skx.2	-	c.1348C>G	c.(1348-1350)CTG>GTG	p.L450V	DCTN1_uc002skv.2_Missense_Mutation_p.L316V|DCTN1_uc002sku.2_Missense_Mutation_p.L316V|DCTN1_uc002skw.1_Missense_Mutation_p.L426V|DCTN1_uc010ffd.2_Missense_Mutation_p.L430V|DCTN1_uc002sky.2_Missense_Mutation_p.L413V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	450	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)	3														0.195055	183.816762	215.379655	71	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74597136	74597136	4477	2	G	C	C	C	425	33	DCTN1	3	3
LRRTM4	80059	broad.mit.edu	37	2	77746613	77746613	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77746613T>A	uc002snr.2	-	c.382A>T	c.(382-384)ACA>TCA	p.T128S	LRRTM4_uc002snq.2_Missense_Mutation_p.T128S|LRRTM4_uc002sns.2_Missense_Mutation_p.T128S|LRRTM4_uc002snt.2_Missense_Mutation_p.T129S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	128	LRR 3.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.415584	100.783355	101.263095	32	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77746613	77746613	9418	2	T	A	A	A	780	60	LRRTM4	3	3
EIF2AK3	9451	broad.mit.edu	37	2	88885469	88885469	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88885469C>G	uc002stc.3	-	c.1540G>C	c.(1540-1542)GAT>CAT	p.D514H		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	514	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GBM(138;671 1851 16235 39058 45249)				242				0.382239	344.061558	347.212254	99	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88885469	88885469	5187	2	C	G	G	G	390	30	EIF2AK3	3	3
INPP4A	3631	broad.mit.edu	37	2	99193584	99193584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99193584C>T	uc002syy.2	+	c.2779C>T	c.(2779-2781)CAG>TAG	p.Q927*	INPP4A_uc010yvj.1_Nonsense_Mutation_p.Q888*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.Q888*|INPP4A_uc002syx.2_Nonsense_Mutation_p.Q922*|INPP4A_uc010fik.2_Nonsense_Mutation_p.Q256*	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	927					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1														0.329268	67.583686	69.709537	27	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99193584	99193584	8053	2	C	T	T	T	273	21	INPP4A	5	2
SLC6A1	6529	broad.mit.edu	37	3	11059650	11059650	+	Silent	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:11059650T>A	uc010hdq.2	+	c.360T>A	c.(358-360)CCT>CCA	p.P120P		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)									0.321138	238.640178	245.629509	79	167	KEEP	---	---	---	---	capture		Silent	SNP	11059650	11059650	15170	3	T	A	A	A	678	53	SLC6A1	3	3
ATG7	10533	broad.mit.edu	37	3	11382132	11382132	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:11382132A>G	uc003bwc.2	+	c.903A>G	c.(901-903)GCA>GCG	p.A301A	ATG7_uc003bwd.2_Silent_p.A301A|ATG7_uc011aum.1_Silent_p.A262A	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	301					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1														0.173913	67.582667	86.05233	32	152	KEEP	---	---	---	---	capture		Silent	SNP	11382132	11382132	1120	3	A	G	G	G	80	7	ATG7	4	4
ZBTB20	26137	broad.mit.edu	37	3	114057870	114057870	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:114057870C>A	uc003ebi.2	-	c.2208G>T	c.(2206-2208)ATG>ATT	p.M736I	ZBTB20_uc003ebj.2_Missense_Mutation_p.M663I|ZBTB20_uc010hqp.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebk.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebl.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebm.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebn.2_Missense_Mutation_p.M663I	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	736	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		NSCLC(69;748 1344 9802 11203 30933)								0.284091	71.636204	75.320557	25	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114057870	114057870	18115	3	C	A	A	A	325	25	ZBTB20	2	2
TMEM39A	55254	broad.mit.edu	37	3	119155826	119155826	+	Splice_Site_SNP	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119155826C>G	uc003eck.1	-	c.925_splice	c.e7-1	p.S309_splice	TMEM39A_uc003ecl.1_Splice_Site_SNP_p.S157_splice	NM_018266	NP_060736			transmembrane protein 39A							integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)										0.207207	252.545461	287.814942	92	352	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	119155826	119155826	16700	3	C	G	G	G	416	32	TMEM39A	5	3
ILDR1	286676	broad.mit.edu	37	3	121712504	121712504	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121712504C>A	uc003ees.2	-	c.1092G>T	c.(1090-1092)CTG>CTT	p.L364L	ILDR1_uc003eeq.2_Silent_p.L332L|ILDR1_uc003eer.2_Silent_p.L320L|ILDR1_uc010hrg.2_Silent_p.L275L	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	364	Cytoplasmic (Potential).					cytosol|integral to membrane|plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(114;0.156)										0.203125	27.734954	32.976617	13	51	KEEP	---	---	---	---	capture		Silent	SNP	121712504	121712504	8010	3	C	A	A	A	366	29	ILDR1	2	2
HEG1	57493	broad.mit.edu	37	3	124739860	124739860	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124739860A>T	uc011bke.1	-	c.1028T>A	c.(1027-1029)CTG>CAG	p.L343Q	HEG1_uc003ehs.3_Missense_Mutation_p.L343Q	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	335	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2														0.150754	60.616624	83.873862	30	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124739860	124739860	7327	3	A	T	T	T	91	7	HEG1	3	3
COL6A6	131873	broad.mit.edu	37	3	130287011	130287011	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130287011G>C	uc010htl.2	+	c.1964G>C	c.(1963-1965)GGA>GCA	p.G655A		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	655	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.141975	100.227313	140.268645	46	278	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130287011	130287011	3841	3	G	C	C	C	533	41	COL6A6	3	3
PIK3CB	5291	broad.mit.edu	37	3	138375084	138375084	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138375084A>G	uc011bmq.1	-	c.2975T>C	c.(2974-2976)ATT>ACT	p.I992T	PIK3CB_uc011bmn.1_Missense_Mutation_p.I504T|PIK3CB_uc011bmo.1_Missense_Mutation_p.I443T|PIK3CB_uc011bmp.1_Missense_Mutation_p.I579T|PIK3CB_uc003est.1_5'Flank	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	992	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			ovary(1)|skin(1)	2										330				0.257642	177.850407	190.018594	59	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138375084	138375084	12338	3	A	G	G	G	52	4	PIK3CB	4	4
CLSTN2	64084	broad.mit.edu	37	3	140277665	140277665	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140277665C>T	uc003etn.2	+	c.2007C>T	c.(2005-2007)GCC>GCT	p.A669A		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	669	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.270833	33.850884	36.12711	13	35	KEEP	---	---	---	---	capture		Silent	SNP	140277665	140277665	3700	3	C	T	T	T	262	21	CLSTN2	2	2
PCOLCE2	26577	broad.mit.edu	37	3	142567171	142567171	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142567171A>T	uc003evd.2	-	c.336T>A	c.(334-336)CCT>CCA	p.P112P		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	112	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)	2														0.263441	131.472534	140.9018	49	137	KEEP	---	---	---	---	capture		Silent	SNP	142567171	142567171	12015	3	A	T	T	T	80	7	PCOLCE2	3	3
ZIC4	84107	broad.mit.edu	37	3	147108910	147108910	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147108910C>T	uc011bno.1	-	c.962G>A	c.(961-963)TGC>TAC	p.C321Y	ZIC4_uc003ewc.1_Missense_Mutation_p.C201Y|ZIC4_uc003ewd.1_Missense_Mutation_p.C271Y	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	271	C2H2-type 5.					nucleus	DNA binding|zinc ion binding				0														0.382979	106.673389	107.803702	36	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147108910	147108910	18272	3	C	T	T	T	325	25	ZIC4	2	2
ZIC4	84107	broad.mit.edu	37	3	147108987	147108987	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147108987G>T	uc011bno.1	-	c.885C>A	c.(883-885)TTC>TTA	p.F295L	ZIC4_uc003ewc.1_Missense_Mutation_p.F175L|ZIC4_uc003ewd.1_Missense_Mutation_p.F245L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	245	C2H2-type 4.					nucleus	DNA binding|zinc ion binding				0														0.293333	55.897501	58.781477	22	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147108987	147108987	18272	3	G	T	T	T	477	37	ZIC4	1	1
AGTR1	185	broad.mit.edu	37	3	148459426	148459426	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148459426C>A	uc003ewg.2	+	c.604C>A	c.(604-606)CTG>ATG	p.L202M	AGTR1_uc003ewh.2_Missense_Mutation_p.L202M|AGTR1_uc003ewi.2_Missense_Mutation_p.L202M|AGTR1_uc003ewj.2_Missense_Mutation_p.L202M|AGTR1_uc003ewk.2_Missense_Mutation_p.L202M	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202	Helical; Name=5; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.178571	10.256807	12.980976	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148459426	148459426	404	3	C	A	A	A	259	20	AGTR1	2	2
CAPN7	23473	broad.mit.edu	37	3	15288300	15288300	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15288300G>C	uc003bzn.2	+	c.2072G>C	c.(2071-2073)CGG>CCG	p.R691P		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	691	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1														0.405405	48.918769	49.207937	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15288300	15288300	2749	3	G	C	C	C	507	39	CAPN7	3	3
GALNTL2	117248	broad.mit.edu	37	3	16254145	16254145	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:16254145G>T	uc003car.3	+	c.1267G>T	c.(1267-1269)GAT>TAT	p.D423Y	GALNTL2_uc003caq.3_Missense_Mutation_p.D156Y	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	423	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1														0.408602	110.426946	111.107138	38	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16254145	16254145	6486	3	G	T	T	T	533	41	GALNTL2	2	2
SI	6476	broad.mit.edu	37	3	164712076	164712076	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164712076C>T	uc003fei.2	-	c.4810G>A	c.(4810-4812)GGT>AGT	p.G1604S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1604	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.176471	28.056285	34.764861	12	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164712076	164712076	14792	3	C	T	T	T	273	21	SI	2	2
ZBBX	79740	broad.mit.edu	37	3	167078466	167078466	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167078466G>T	uc011bpc.1	-	c.319C>A	c.(319-321)CAA>AAA	p.Q107K	ZBBX_uc003fep.2_Missense_Mutation_p.Q107K|ZBBX_uc003feq.2_Missense_Mutation_p.Q78K	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	107						intracellular	zinc ion binding			ovary(2)	2														0.338235	69.590987	71.170858	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167078466	167078466	18100	3	G	T	T	T	585	45	ZBBX	2	2
SEC62	7095	broad.mit.edu	37	3	169693437	169693437	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169693437G>T	uc003fgg.2	+	c.78G>T	c.(76-78)AAG>AAT	p.K26N	SEC62_uc003fgh.2_Missense_Mutation_p.K26N	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	26	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1														0.294643	98.828474	103.055946	33	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169693437	169693437	14490	3	G	T	T	T	464	36	SEC62	2	2
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170216672C>A	uc003fgz.2	-	c.543G>T	c.(541-543)GGG>GGT	p.G181G	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	181						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.257143	66.369256	71.988029	27	78	KEEP	---	---	---	---	capture		Silent	SNP	170216672	170216672	15193	3	C	A	A	A	379	30	SLC7A14	2	2
NLGN1	22871	broad.mit.edu	37	3	173993231	173993231	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173993231T>C	uc003fio.1	+	c.773T>C	c.(772-774)TTT>TCT	p.F258S	NLGN1_uc010hww.1_Missense_Mutation_p.F298S|NLGN1_uc003fip.1_Missense_Mutation_p.F258S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	275	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.289062	123.025167	128.128485	37	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173993231	173993231	10864	3	T	C	C	C	832	64	NLGN1	4	4
HRG	3273	broad.mit.edu	37	3	186395193	186395193	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186395193C>T	uc003fqq.2	+	c.1099C>T	c.(1099-1101)CAT>TAT	p.H367Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	367	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)										0.333333	42.974218	44.159955	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186395193	186395193	7646	3	C	T	T	T	273	21	HRG	2	2
MASP1	5648	broad.mit.edu	37	3	186954049	186954049	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186954049G>C	uc003fri.2	-	c.1610C>G	c.(1609-1611)GCC>GGC	p.A537G	MASP1_uc003frh.1_Intron|MASP1_uc003frj.2_Missense_Mutation_p.A506G	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	536	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)										0.384615	87.362418	88.120277	25	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186954049	186954049	9706	3	G	C	C	C	546	42	MASP1	3	3
LPP	4026	broad.mit.edu	37	3	188202445	188202445	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:188202445A>T	uc003frs.1	+	c.259A>T	c.(259-261)AAC>TAC	p.N87Y	LPP_uc011bsg.1_Missense_Mutation_p.N87Y|LPP_uc011bsi.1_Missense_Mutation_p.N87Y|LPP_uc003frt.2_Missense_Mutation_p.N87Y	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	87	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|ovary(1)	162	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)						184				0.117647	20.434033	42.431226	18	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188202445	188202445	9296	3	A	T	T	T	13	1	LPP	3	3
SLC4A7	9497	broad.mit.edu	37	3	27490147	27490147	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27490147G>C	uc011aww.1	-	c.284C>G	c.(283-285)TCT>TGT	p.S95C	SLC4A7_uc011awu.1_Non-coding_Transcript|SLC4A7_uc011awv.1_Non-coding_Transcript|SLC4A7_uc003cdu.3_Missense_Mutation_p.S91C|SLC4A7_uc011awx.1_Missense_Mutation_p.S95C|SLC4A7_uc011awy.1_Missense_Mutation_p.S91C|SLC4A7_uc011awz.1_Non-coding_Transcript|SLC4A7_uc011axa.1_Missense_Mutation_p.S91C|SLC4A7_uc011axb.1_Missense_Mutation_p.S95C|SLC4A7_uc010hfm.2_Missense_Mutation_p.S91C|SLC4A7_uc003cdv.2_Missense_Mutation_p.S86C|SLC4A7_uc003cdw.2_Missense_Mutation_p.S86C	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	86	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)	4														0.19403	36.135217	41.986976	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27490147	27490147	15155	3	G	C	C	C	429	33	SLC4A7	3	3
TTC21A	199223	broad.mit.edu	37	3	39178787	39178787	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39178787G>T	uc003cje.2	+	c.3383G>T	c.(3382-3384)CGG>CTG	p.R1128L	TTC21A_uc003cjc.2_Missense_Mutation_p.R1127L|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R1079L|TTC21A_uc003cjf.2_Missense_Mutation_p.R248L	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	1127							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)										0.315789	17.744128	18.317072	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39178787	39178787	17241	3	G	T	T	T	507	39	TTC21A	1	1
CDC25A	993	broad.mit.edu	37	3	48207217	48207217	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48207217G>C	uc003csh.1	-	c.1100C>G	c.(1099-1101)TCT>TGT	p.S367C	CDC25A_uc003csi.1_Missense_Mutation_p.S327C	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	367					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(2)|kidney(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)						123				0.169118	54.034475	68.133763	23	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48207217	48207217	3190	3	G	C	C	C	429	33	CDC25A	3	3
GRM7	2917	broad.mit.edu	37	3	7620536	7620536	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:7620536C>T	uc003bql.2	+	c.1943C>T	c.(1942-1944)GCC>GTC	p.A648V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A648V|GRM7_uc003bqm.2_Missense_Mutation_p.A648V|GRM7_uc003bqn.1_Missense_Mutation_p.A231V|GRM7_uc010hch.1_Missense_Mutation_p.A159V	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	648	Helical; Name=2; (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.203883	51.315863	59.698979	21	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7620536	7620536	7081	3	C	T	T	T	338	26	GRM7	2	2
ROBO2	6092	broad.mit.edu	37	3	77600017	77600017	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77600017G>T	uc003dpz.2	+	c.1120G>T	c.(1120-1122)GTG>TTG	p.V374L	ROBO2_uc003dpy.3_Missense_Mutation_p.V370L|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.V374L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	370	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.430769	89.094688	89.365306	28	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77600017	77600017	13993	3	G	T	T	T	468	36	ROBO2	2	2
EMCN	51705	broad.mit.edu	37	4	101344211	101344211	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:101344211C>T	uc003hvr.2	-	c.535G>A	c.(535-537)GCA>ACA	p.A179T	EMCN_uc011cel.1_Missense_Mutation_p.A166T|EMCN_uc011cem.1_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	179	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)										0.239264	96.337837	106.460703	39	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101344211	101344211	5278	4	C	T	T	T	325	25	EMCN	2	2
NHEDC2	133308	broad.mit.edu	37	4	103949926	103949926	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103949926C>A	uc003hwx.3	-	c.1370G>T	c.(1369-1371)TGG>TTG	p.W457L	NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.W457L|NHEDC2_uc011cew.1_Missense_Mutation_p.W400L|NHEDC2_uc011cex.1_Intron	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	457					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)										0.351351	40.564342	41.285334	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103949926	103949926	10801	4	C	A	A	A	273	21	NHEDC2	2	2
DKK2	27123	broad.mit.edu	37	4	107845748	107845748	+	Silent	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:107845748T>A	uc003hyi.2	-	c.483A>T	c.(481-483)GGA>GGT	p.G161G	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.G161G	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	161					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)										0.277778	193.37972	203.772937	65	169	KEEP	---	---	---	---	capture		Silent	SNP	107845748	107845748	4725	4	T	A	A	A	639	50	DKK2	3	3
LEF1	51176	broad.mit.edu	37	4	109088767	109088767	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109088767T>C	uc003hyt.1	-	c.157A>G	c.(157-159)ATC>GTC	p.I53V	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.I53V|LEF1_uc003hyv.1_Missense_Mutation_p.I53V|LEF1_uc010imb.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	53	CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of caspase activity|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of gene-specific transcription|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|promoter binding|transcription activator activity|transcription repressor activity			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)										0.306122	87.413468	90.698592	30	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109088767	109088767	9038	4	T	C	C	C	663	51	LEF1	4	4
ENPEP	2028	broad.mit.edu	37	4	111436540	111436540	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111436540C>T	uc003iab.3	+	c.1451C>T	c.(1450-1452)TCT>TTT	p.S484F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	484	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.368421	45.939944	46.518361	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111436540	111436540	5321	4	C	T	T	T	416	32	ENPEP	2	2
C4orf21	55345	broad.mit.edu	37	4	113461166	113461166	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113461166C>T	uc003iau.2	-	c.6025G>A	c.(6025-6027)GTA>ATA	p.V2009I	C4orf21_uc003iav.2_Non-coding_Transcript|C4orf21_uc003iat.2_Missense_Mutation_p.V467I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	831						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.225806	17.207774	19.348901	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113461166	113461166	2349	4	C	T	T	T	221	17	C4orf21	2	2
NDST4	64579	broad.mit.edu	37	4	115997379	115997379	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997379C>T	uc003ibu.2	-	c.814G>A	c.(814-816)GGC>AGC	p.G272S	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	272	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.216912	149.268511	169.376662	59	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115997379	115997379	10657	4	C	T	T	T	273	21	NDST4	2	2
KIAA1109	84162	broad.mit.edu	37	4	123165092	123165092	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123165092C>T	uc003ieh.2	+	c.4826C>T	c.(4825-4827)CCA>CTA	p.P1609L	KIAA1109_uc003iek.2_Missense_Mutation_p.P228L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1609					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.163265	34.035666	44.595281	16	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123165092	123165092	8516	4	C	T	T	T	273	21	KIAA1109	2	2
IL2	3558	broad.mit.edu	37	4	123372977	123372977	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123372977G>T	uc003ier.2	-	c.392C>A	c.(391-393)ACA>AAA	p.T131K		NM_000586	NP_000577	P60568	IL2_HUMAN	interleukin 2 precursor	131					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of inflammatory response|positive regulation of interleukin-17 production|positive regulation of tissue remodeling|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity				0				LUSC - Lung squamous cell carcinoma(721;0.185)						34				0.230769	35.572393	39.02627	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123372977	123372977	7967	4	G	T	T	T	624	48	IL2	2	2
MFSD8	256471	broad.mit.edu	37	4	128842683	128842683	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128842683G>A	uc003ifp.2	-	c.1346C>T	c.(1345-1347)CCT>CTT	p.P449L	MFSD8_uc011cgu.1_Missense_Mutation_p.P404L|MFSD8_uc011cgv.1_3'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	449	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.392857	35.118311	35.399964	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128842683	128842683	9928	4	G	A	A	A	455	35	MFSD8	2	2
PRMT10	90826	broad.mit.edu	37	4	148559746	148559746	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:148559746T>C	uc003ilc.2	-	c.2475A>G	c.(2473-2475)GGA>GGG	p.G825G	PRMT10_uc003ilb.2_Silent_p.G469G|PRMT10_uc003ild.2_Silent_p.G712G	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	825						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2														0.184932	217.411013	258.178675	81	357	KEEP	---	---	---	---	capture		Silent	SNP	148559746	148559746	12979	4	T	C	C	C	691	54	PRMT10	4	4
LRBA	987	broad.mit.edu	37	4	151765810	151765810	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151765810C>G	uc010ipj.2	-	c.4461G>C	c.(4459-4461)AAG>AAC	p.K1487N	LRBA_uc003ilt.3_Missense_Mutation_p.K146N|LRBA_uc003ilu.3_Missense_Mutation_p.K1487N	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.366667	67.033503	67.971695	22	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151765810	151765810	9304	4	C	G	G	G	311	24	LRBA	3	3
ANP32C	23520	broad.mit.edu	37	4	165118750	165118750	+	Silent	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118750T>A	uc011cjk.1	-	c.114A>T	c.(112-114)ACA>ACT	p.T38T	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	38											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.30137	128.104481	133.274743	44	102	KEEP	---	---	---	---	capture		Silent	SNP	165118750	165118750	715	4	T	A	A	A	704	55	ANP32C	3	3
DDX60L	91351	broad.mit.edu	37	4	169348279	169348279	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169348279A>T	uc003irq.3	-	c.1872T>A	c.(1870-1872)GTT>GTA	p.V624V	DDX60L_uc003irr.1_Silent_p.V624V|DDX60L_uc003irs.1_Silent_p.V351V	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	624							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.25	11.29189	12.201143	4	12	KEEP	---	---	---	---	capture		Silent	SNP	169348279	169348279	4550	4	A	T	T	T	54	5	DDX60L	3	3
FAT1	2195	broad.mit.edu	37	4	187541804	187541804	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187541804A>C	uc003izf.2	-	c.5936T>G	c.(5935-5937)TTT>TGT	p.F1979C		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1979	Extracellular (Potential).|Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.297297	219.967568	228.119928	66	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187541804	187541804	5925	4	A	C	C	C	13	1	FAT1	4	4
TRIML2	205860	broad.mit.edu	37	4	189022242	189022242	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189022242C>T	uc011cle.1	-	c.448G>A	c.(448-450)GAG>AAG	p.E150K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.E100K|TRIML2_uc011clf.1_Missense_Mutation_p.E150K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	100	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)										0.171429	25.953715	33.099453	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189022242	189022242	17101	4	C	T	T	T	403	31	TRIML2	1	1
ZFYVE28	57732	broad.mit.edu	37	4	2307157	2307157	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2307157C>T	uc003gex.1	-	c.910G>A	c.(910-912)GCT>ACT	p.A304T	ZFYVE28_uc011bvk.1_Missense_Mutation_p.A234T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A274T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A190T	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	304					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(1)	1														0.357143	13.771297	14.022851	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2307157	2307157	18260	4	C	T	T	T	351	27	ZFYVE28	1	1
SLC34A2	10568	broad.mit.edu	37	4	25677973	25677973	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25677973G>T	uc003grr.2	+	c.1675G>T	c.(1675-1677)GGG>TGG	p.G559W	SLC34A2_uc003grs.2_Missense_Mutation_p.G558W|SLC34A2_uc010iev.2_Missense_Mutation_p.G558W	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	559	Helical; Name=M8; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(1)|kidney(1)	2		Breast(46;0.0503)												0.214765	80.143221	91.31698	32	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25677973	25677973	15065	4	G	T	T	T	507	39	SLC34A2	1	1
ARAP2	116984	broad.mit.edu	37	4	36149346	36149346	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36149346T>G	uc003gsq.1	-	c.3023A>C	c.(3022-3024)GAA>GCA	p.E1008A		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1008					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.106383	7.739526	14.969129	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36149346	36149346	850	4	T	G	G	G	806	62	ARAP2	4	4
LIMCH1	22998	broad.mit.edu	37	4	41687737	41687737	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:41687737G>C	uc003gvz.3	+	c.3978G>C	c.(3976-3978)CAG>CAC	p.Q1326H	LIMCH1_uc003gvu.3_Missense_Mutation_p.Q942H|LIMCH1_uc003gvv.3_Missense_Mutation_p.Q942H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q941H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q954H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Q865H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q770H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q782H|LIMCH1_uc011byu.1_Missense_Mutation_p.Q775H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q787H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q775H|LIMCH1_uc011byv.1_Missense_Mutation_p.Q692H|LIMCH1_uc011byw.1_Missense_Mutation_p.Q241H	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	942					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.340278	166.930205	170.177829	49	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41687737	41687737	9123	4	G	C	C	C	425	33	LIMCH1	3	3
GNPDA2	132789	broad.mit.edu	37	4	44713078	44713078	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44713078T>C	uc003gwy.2	-	c.486A>G	c.(484-486)CTA>CTG	p.L162L	GNPDA2_uc010iga.2_Silent_p.L128L|GNPDA2_uc011bzb.1_Silent_p.L92L|GNPDA2_uc003gwz.1_Silent_p.L162L	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	162					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						Colon(54;743 1010 7604 16453 19544)								0.253165	63.464634	67.832236	20	59	KEEP	---	---	---	---	capture		Silent	SNP	44713078	44713078	6812	4	T	C	C	C	678	53	GNPDA2	4	4
KIAA1211	57482	broad.mit.edu	37	4	57181273	57181273	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57181273G>T	uc003hbk.2	+	c.1605G>T	c.(1603-1605)CGG>CGT	p.R535R	KIAA1211_uc010iha.2_Silent_p.R528R|KIAA1211_uc011bzz.1_Silent_p.R445R|KIAA1211_uc003hbm.1_Silent_p.R421R	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	535										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.384615	45.214812	45.670376	15	24	KEEP	---	---	---	---	capture		Silent	SNP	57181273	57181273	8523	4	G	T	T	T	535	42	KIAA1211	2	2
SULT1B1	27284	broad.mit.edu	37	4	70592821	70592821	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70592821G>C	uc003hen.2	-	c.876C>G	c.(874-876)TTC>TTG	p.F292L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	292					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0														0.127907	43.429336	66.636176	22	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70592821	70592821	15896	4	G	C	C	C	529	41	SULT1B1	3	3
MUC7	4589	broad.mit.edu	37	4	71346890	71346890	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71346890A>C	uc011cat.1	+	c.429A>C	c.(427-429)GAA>GAC	p.E143D	MUC7_uc011cau.1_Missense_Mutation_p.E143D|MUC7_uc003hfj.2_Missense_Mutation_p.E143D	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	143	Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.158004	182.414741	236.02618	76	405	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71346890	71346890	10375	4	A	C	C	C	11	1	MUC7	4	4
ADAMTS3	9508	broad.mit.edu	37	4	73149304	73149304	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73149304G>A	uc003hgk.1	-	c.3167C>T	c.(3166-3168)ACC>ATC	p.T1056I		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1056					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.317308	287.108392	296.369718	99	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73149304	73149304	268	4	G	A	A	A	572	44	ADAMTS3	2	2
CXCL9	4283	broad.mit.edu	37	4	76927399	76927399	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76927399A>T	uc003hjh.1	-	c.93T>A	c.(91-93)TGT>TGA	p.C31*		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	31					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)							71				0.358904	391.835662	398.228828	131	234	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76927399	76927399	4249	4	A	T	T	T	24	2	CXCL9	5	3
DSPP	1834	broad.mit.edu	37	4	88534203	88534203	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88534203G>T	uc003hqu.2	+	c.865G>T	c.(865-867)GAT>TAT	p.D289Y		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	289					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)										0.263636	74.519054	80.080331	29	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88534203	88534203	4966	4	G	T	T	T	429	33	DSPP	2	2
FAM190A	401145	broad.mit.edu	37	4	91230336	91230336	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:91230336G>T	uc003hsv.3	+	c.901G>T	c.(901-903)GCT>TCT	p.A301S	FAM190A_uc003hsu.3_Missense_Mutation_p.A301S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.2_Missense_Mutation_p.A301S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	301										large_intestine(1)|ovary(1)	2														0.204036	223.263249	259.528577	91	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91230336	91230336	5732	4	G	T	T	T	598	46	FAM190A	2	2
HSPA9	3313	broad.mit.edu	37	5	137909529	137909529	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137909529T>C	uc003ldf.2	-	c.151A>G	c.(151-153)ATC>GTC	p.I51V	HSPA9_uc011cyw.1_5'UTR	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	51					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.210526	21.57802	24.524174	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137909529	137909529	7716	5	T	C	C	C	676	52	HSPA9	4	4
PCDHB3	56132	broad.mit.edu	37	5	140481535	140481535	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481535G>C	uc003lio.2	+	c.1302G>C	c.(1300-1302)AAG>AAC	p.K434N		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	434	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.117647	16.293127	28.502895	10	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481535	140481535	11963	5	G	C	C	C	464	36	PCDHB3	3	3
PCDHGA4	56111	broad.mit.edu	37	5	140736176	140736176	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736176C>T	uc003ljq.1	+	c.1409C>T	c.(1408-1410)TCC>TTC	p.S470F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.S470F	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.214953	54.058622	62.09299	23	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140736176	140736176	11976	5	C	T	T	T	390	30	PCDHGA4	2	2
SPINK7	84651	broad.mit.edu	37	5	147693664	147693664	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147693664T>A	uc003lpd.2	+	c.89T>A	c.(88-90)GTG>GAG	p.V30E		NM_032566	NP_115955	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7	30	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.377129	496.527696	501.972342	155	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147693664	147693664	15576	5	T	A	A	A	767	59	SPINK7	3	3
TIMD4	91937	broad.mit.edu	37	5	156381703	156381703	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156381703C>G	uc003lwh.2	-	c.123G>C	c.(121-123)CTG>CTC	p.L41L	TIMD4_uc010jii.2_Silent_p.L41L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	41	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.283333	53.44831	55.978716	17	43	KEEP	---	---	---	---	capture		Silent	SNP	156381703	156381703	16432	5	C	G	G	G	210	17	TIMD4	3	3
ERGIC1	57222	broad.mit.edu	37	5	172377742	172377742	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:172377742G>T	uc003mbw.3	+	c.796G>T	c.(796-798)GTC>TTC	p.V266F	ERGIC1_uc003mby.3_Missense_Mutation_p.V174F|ERGIC1_uc011dfa.1_Missense_Mutation_p.V211F|ERGIC1_uc003mca.3_Non-coding_Transcript	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	266	Helical; (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.12605	24.953349	41.184941	15	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172377742	172377742	5416	5	G	T	T	T	520	40	ERGIC1	1	1
BASP1	10409	broad.mit.edu	37	5	17275998	17275998	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:17275998G>A	uc003jfx.2	+	c.673G>A	c.(673-675)GTG>ATG	p.V225M		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	225					glomerular visceral epithelial cell differentiation|negative regulation of gene-specific transcription	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	promoter binding|protein domain specific binding|specific transcriptional repressor activity|transcription corepressor activity				0														0.285714	33.785141	35.514287	12	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17275998	17275998	1338	5	G	A	A	A	520	40	BASP1	1	1
FAF2	23197	broad.mit.edu	37	5	175919294	175919294	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175919294G>A	uc003mej.3	+	c.444G>A	c.(442-444)GGG>GGA	p.G148G		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	148					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1														0.137931	13.157742	20.513822	8	50	KEEP	---	---	---	---	capture		Silent	SNP	175919294	175919294	5567	5	G	A	A	A	522	41	FAF2	2	2
PRDM9	56979	broad.mit.edu	37	5	23522757	23522757	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23522757C>T	uc003jgo.2	+	c.645C>T	c.(643-645)AGC>AGT	p.S215S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	215					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														0.173913	24.954315	31.882796	12	57	KEEP	---	---	---	---	capture		Silent	SNP	23522757	23522757	12906	5	C	T	T	T	363	28	PRDM9	2	2
RXFP3	51289	broad.mit.edu	37	5	33937437	33937437	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33937437C>A	uc003jic.1	+	c.592C>A	c.(592-594)CGG>AGG	p.R198R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	198	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.5	36.626169	36.626169	11	11	KEEP	---	---	---	---	capture		Silent	SNP	33937437	33937437	14241	5	C	A	A	A	295	23	RXFP3	1	1
HMGCS1	3157	broad.mit.edu	37	5	43297159	43297159	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43297159T>C	uc003jnr.3	-	c.684A>G	c.(682-684)GCA>GCG	p.A228A	HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.A228A	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	228					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.252475	134.642775	145.87293	51	151	KEEP	---	---	---	---	capture		Silent	SNP	43297159	43297159	7523	5	T	C	C	C	652	51	HMGCS1	4	4
ADAMTS16	170690	broad.mit.edu	37	5	5190105	5190105	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5190105C>T	uc003jdl.2	+	c.1069C>T	c.(1069-1071)CAC>TAC	p.H357Y	ADAMTS16_uc003jdk.1_Missense_Mutation_p.H357Y|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H357Y	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	357	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.375723	210.538719	212.881852	65	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5190105	5190105	262	5	C	T	T	T	273	21	ADAMTS16	2	2
ITGA1	3672	broad.mit.edu	37	5	52204758	52204758	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52204758A>T	uc003jou.2	+	c.1486A>T	c.(1486-1488)ACA>TCA	p.T496S	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Missense_Mutation_p.T27S	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	496	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.4	145.525843	146.532068	46	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52204758	52204758	8176	5	A	T	T	T	26	2	ITGA1	3	3
ITGA2	3673	broad.mit.edu	37	5	52351515	52351515	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52351515A>G	uc003joy.2	+	c.927A>G	c.(925-927)ATA>ATG	p.I309M	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.I233M|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	309	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.157576	63.467482	81.896312	26	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52351515	52351515	8179	5	A	G	G	G	189	15	ITGA2	4	4
FST	10468	broad.mit.edu	37	5	52779455	52779455	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52779455G>A	uc003jpd.2	+	c.399G>A	c.(397-399)GGG>GGA	p.G133G	FST_uc003jpc.2_Silent_p.G133G	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	133	Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)												0.327586	55.802285	57.332788	19	39	KEEP	---	---	---	---	capture		Silent	SNP	52779455	52779455	6327	5	G	A	A	A	535	42	FST	2	2
F2RL1	2150	broad.mit.edu	37	5	76128923	76128923	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:76128923T>A	uc003keo.2	+	c.491T>A	c.(490-492)CTC>CAC	p.L164H		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	164	Helical; Name=3; (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)										0.21	194.548857	225.715344	84	316	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76128923	76128923	5538	5	T	A	A	A	702	54	F2RL1	3	3
ADCY2	108	broad.mit.edu	37	5	7690926	7690926	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7690926G>T	uc003jdz.1	+	c.843G>T	c.(841-843)CTG>CTT	p.L281L	ADCY2_uc011cmo.1_Silent_p.L101L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	281	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.205263	190.127578	220.755519	78	302	KEEP	---	---	---	---	capture		Silent	SNP	7690926	7690926	295	5	G	T	T	T	613	48	ADCY2	2	2
ADCY2	108	broad.mit.edu	37	5	7727285	7727285	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7727285C>T	uc003jdz.1	+	c.1782C>T	c.(1780-1782)GCC>GCT	p.A594A	ADCY2_uc011cmo.1_Silent_p.A414A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	594	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.125392	64.468895	108.193764	40	279	KEEP	---	---	---	---	capture		Silent	SNP	7727285	7727285	295	5	C	T	T	T	262	21	ADCY2	2	2
ARSB	411	broad.mit.edu	37	5	78135202	78135202	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78135202G>A	uc003kfq.2	-	c.1190C>T	c.(1189-1191)CCG>CTG	p.P397L	ARSB_uc003kfr.3_Missense_Mutation_p.P397L	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	397					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity				0		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		Melanoma(169;563 1968 25780 26156 52266)								0.225352	86.416865	96.266327	32	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78135202	78135202	1006	5	G	A	A	A	507	39	ARSB	1	1
BHMT	635	broad.mit.edu	37	5	78426781	78426781	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78426781C>A	uc003kfu.3	+	c.1063C>A	c.(1063-1065)CTT>ATT	p.L355I	BHMT_uc011cti.1_Missense_Mutation_p.L202I	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	355					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)									0.200669	136.334799	161.240149	60	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78426781	78426781	1450	5	C	A	A	A	416	32	BHMT	2	2
MCHR2	84539	broad.mit.edu	37	6	100395759	100395759	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100395759G>A	uc003pqh.1	-	c.271C>T	c.(271-273)CAC>TAC	p.H91Y	MCHR2_uc003pqi.1_Missense_Mutation_p.H91Y	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	91	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)										0.122642	14.278424	29.113148	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100395759	100395759	9772	6	G	A	A	A	585	45	MCHR2	2	2
SIM1	6492	broad.mit.edu	37	6	100838954	100838954	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100838954C>A	uc003pqj.3	-	c.1584G>T	c.(1582-1584)TGG>TGT	p.W528C	SIM1_uc010kcu.2_Missense_Mutation_p.W528C	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	528	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.240964	51.355019	56.438825	20	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100838954	100838954	14818	6	C	A	A	A	286	22	SIM1	2	2
RTN4IP1	84816	broad.mit.edu	37	6	107035616	107035616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107035616G>A	uc003prj.2	-	c.928C>T	c.(928-930)CGA>TGA	p.R310*	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.R210*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	310					oxidation-reduction process	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)										0.356436	120.174246	122.007101	36	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107035616	107035616	14209	6	G	A	A	A	506	39	RTN4IP1	5	1
MICAL1	64780	broad.mit.edu	37	6	109765934	109765934	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109765934G>T	uc011eaq.1	-	c.3106C>A	c.(3106-3108)CGG>AGG	p.R1036R	MICAL1_uc003ptj.2_Silent_p.R1017R|MICAL1_uc003ptk.2_Silent_p.R1017R|MICAL1_uc010kdr.2_Silent_p.R931R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	1017	Potential.				cytoskeleton organization|oxidation-reduction process|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)										0.26087	17.641454	18.830497	6	17	KEEP	---	---	---	---	capture		Silent	SNP	109765934	109765934	9959	6	G	T	T	T	506	39	MICAL1	1	1
THEMIS	387357	broad.mit.edu	37	6	128134623	128134623	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134623T>A	uc011ebt.1	-	c.1163A>T	c.(1162-1164)CAG>CTG	p.Q388L	THEMIS_uc010kfa.2_Missense_Mutation_p.Q291L|THEMIS_uc003qbi.2_Missense_Mutation_p.Q388L|THEMIS_uc010kfb.2_Missense_Mutation_p.Q353L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	388	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.5	268.853832	268.853832	78	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134623	128134623	16388	6	T	A	A	A	715	55	THEMIS	3	3
NMBR	4829	broad.mit.edu	37	6	142397123	142397123	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142397123A>T	uc003qiu.2	-	c.835T>A	c.(835-837)TGG>AGG	p.W279R		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	279	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)	3	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)										0.21978	52.050923	58.631714	20	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142397123	142397123	10890	6	A	T	T	T	65	5	NMBR	3	3
HIVEP2	3097	broad.mit.edu	37	6	143080972	143080972	+	Nonsense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143080972G>C	uc003qjd.2	-	c.6453C>G	c.(6451-6453)TAC>TAG	p.Y2151*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		Esophageal Squamous(107;843 1510 13293 16805 42198)								0.123288	32.94784	53.214272	18	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143080972	143080972	7478	6	G	C	C	C	568	44	HIVEP2	5	3
C6orf97	80129	broad.mit.edu	37	6	151894422	151894422	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151894422C>A	uc003qol.2	+	c.888C>A	c.(886-888)AGC>AGA	p.S296R		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	296											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)						349				0.394737	90.230801	90.968757	30	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151894422	151894422	2481	6	C	A	A	A	337	26	C6orf97	2	2
PACRG	135138	broad.mit.edu	37	6	163483243	163483243	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:163483243A>C	uc003qua.2	+	c.353A>C	c.(352-354)GAA>GCA	p.E118A	PACRG_uc003qub.2_Missense_Mutation_p.E118A|PACRG_uc003quc.2_Missense_Mutation_p.E118A	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	118											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)										0.260274	119.583475	127.178514	38	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163483243	163483243	11786	6	A	C	C	C	117	9	PACRG	4	4
TTLL2	83887	broad.mit.edu	37	6	167754837	167754837	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167754837A>T	uc003qvs.1	+	c.1449A>T	c.(1447-1449)GCA>GCT	p.A483A	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	483					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.166667	74.367295	97.120879	36	180	KEEP	---	---	---	---	capture		Silent	SNP	167754837	167754837	17282	6	A	T	T	T	67	6	TTLL2	3	3
HDGFL1	154150	broad.mit.edu	37	6	22569979	22569979	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:22569979T>A	uc003nds.2	+	c.175T>A	c.(175-177)TAC>AAC	p.Y59N		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	59	PWWP.										0	Ovarian(93;0.163)													0.357143	30.042382	30.545634	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22569979	22569979	7302	6	T	A	A	A	741	57	HDGFL1	3	3
HIST1H2BC	8347	broad.mit.edu	37	6	26123802	26123802	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26123802C>G	uc003ngk.3	-	c.331G>C	c.(331-333)GCC>CCC	p.A111P	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.A111P|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	111					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1														0.25641	177.389724	189.983377	60	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26123802	26123802	7427	6	C	G	G	G	351	27	HIST1H2BC	3	3
HIST1H2AH	85235	broad.mit.edu	37	6	27115128	27115128	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27115128A>T	uc003niz.2	+	c.221A>T	c.(220-222)AAC>ATC	p.N74I	HIST1H2BK_uc003nix.1_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	74					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.19469	100.753558	120.423139	44	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27115128	27115128	7419	6	A	T	T	T	26	2	HIST1H2AH	3	3
HIST1H2AJ	8331	broad.mit.edu	37	6	27782453	27782453	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27782453G>T	uc003njn.1	-	c.66C>A	c.(64-66)GCC>GCA	p.A22A	HIST1H2BM_uc003njo.2_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	22					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.285714	29.066708	30.490316	10	25	KEEP	---	---	---	---	capture		Silent	SNP	27782453	27782453	7421	6	G	T	T	T	496	39	HIST1H2AJ	1	1
OR11A1	26531	broad.mit.edu	37	6	29394899	29394899	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29394899G>A	uc003nmg.2	-	c.520C>T	c.(520-522)CAC>TAC	p.H174Y		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.291866	170.78252	178.896518	61	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29394899	29394899	11330	6	G	A	A	A	611	47	OR11A1	2	2
ATF6B	1388	broad.mit.edu	37	6	32087669	32087669	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32087669G>A	uc003nzn.2	-	c.898C>T	c.(898-900)CCA>TCA	p.P300S	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.P297S|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	300	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.267974	110.502826	117.941904	41	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32087669	32087669	1104	6	G	A	A	A	572	44	ATF6B	2	2
DNAH8	1769	broad.mit.edu	37	6	38867598	38867598	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38867598G>T	uc003ooe.1	+	c.8459G>T	c.(8458-8460)GGT>GTT	p.G2820V		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2820	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.127907	16.677799	28.272932	11	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38867598	38867598	4790	6	G	T	T	T	572	44	DNAH8	2	2
CAPN11	11131	broad.mit.edu	37	6	44140984	44140984	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44140984G>A	uc003owt.1	+	c.692G>A	c.(691-693)GGG>GAG	p.G231E		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	231	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)									OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3375	342.60248	350.027774	108	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44140984	44140984	2741	6	G	A	A	A	559	43	CAPN11	2	2
CDC5L	988	broad.mit.edu	37	6	44371547	44371547	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44371547C>A	uc003oxl.2	+	c.541C>A	c.(541-543)CGT>AGT	p.R181S		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	181	Potential.				cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)							515				0.285714	49.386628	51.688086	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44371547	44371547	3211	6	C	A	A	A	247	19	CDC5L	1	1
DEFB112	245915	broad.mit.edu	37	6	50011359	50011359	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50011359C>T	uc011dws.1	-	c.271G>A	c.(271-273)GAC>AAC	p.D91N		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	91					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)													0.165138	38.277473	49.879253	18	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50011359	50011359	4578	6	C	T	T	T	390	30	DEFB112	2	2
C6orf142	90523	broad.mit.edu	37	6	54025173	54025173	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54025173T>A	uc011dxa.1	+	c.2298T>A	c.(2296-2298)GAT>GAA	p.D766E	C6orf142_uc003pcf.2_Missense_Mutation_p.D755E|C6orf142_uc003pcg.3_Missense_Mutation_p.D231E|C6orf142_uc003pch.3_Intron	NM_138569	NP_612636	Q5VWP3	CF142_HUMAN	hypothetical protein LOC90523	231											0	Lung NSC(77;0.0317)													0.288136	51.751605	54.125658	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54025173	54025173	2437	6	T	A	A	A	660	51	C6orf142	3	3
EYS	346007	broad.mit.edu	37	6	66204948	66204948	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66204948G>T	uc011dxu.1	-	c.356C>A	c.(355-357)ACA>AAA	p.T119K	EYS_uc003peq.2_Missense_Mutation_p.T119K|EYS_uc003per.1_Missense_Mutation_p.T119K|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	119					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.294737	85.260838	88.84315	28	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66204948	66204948	5526	6	G	T	T	T	624	48	EYS	2	2
BAI3	577	broad.mit.edu	37	6	70071247	70071247	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70071247T>A	uc003pev.3	+	c.4082T>A	c.(4081-4083)ATG>AAG	p.M1361K	BAI3_uc010kak.2_Missense_Mutation_p.M1361K|BAI3_uc011dxx.1_Missense_Mutation_p.M567K	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1361	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.248889	165.896379	178.793516	56	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70071247	70071247	1321	6	T	A	A	A	663	51	BAI3	3	3
RREB1	6239	broad.mit.edu	37	6	7240734	7240734	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7240734G>C	uc003mxb.2	+	c.3872G>C	c.(3871-3873)CGC>CCC	p.R1291P	RREB1_uc003mxc.2_Intron|RREB1_uc010jnx.2_Missense_Mutation_p.R1291P	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1272					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.219388	118.218948	132.367868	43	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7240734	7240734	14159	6	G	C	C	C	494	38	RREB1	3	3
EEF1A1	1915	broad.mit.edu	37	6	74228549	74228549	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74228549T>C	uc003phi.2	-	c.644A>G	c.(643-645)AAA>AGA	p.K215R	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.K205R|EEF1A1_uc003phf.2_Missense_Mutation_p.K215R|EEF1A1_uc003phg.2_Missense_Mutation_p.K215R|EEF1A1_uc003phh.2_Missense_Mutation_p.K61R|EEF1A1_uc003phj.2_Missense_Mutation_p.K215R|EEF1A1_uc003phk.2_Missense_Mutation_p.K215R|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	215						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0												OREG0003895|OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.368421	48.440231	49.018507	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74228549	74228549	5110	6	T	C	C	C	832	64	EEF1A1	4	4
IMPG1	3617	broad.mit.edu	37	6	76728444	76728444	+	Silent	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76728444G>A	uc003pik.1	-	c.798C>T	c.(796-798)TCC>TCT	p.S266S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	266	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.182609	47.903415	58.782965	21	94	KEEP	---	---	---	---	capture		Silent	SNP	76728444	76728444	8029	6	G	A	A	A	548	43	IMPG1	2	2
TBX18	9096	broad.mit.edu	37	6	85446428	85446428	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:85446428G>C	uc003pkl.1	-	c.1799C>G	c.(1798-1800)TCT>TGT	p.S600C	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	600					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)						300				0.352273	104.200735	105.893599	31	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85446428	85446428	16179	6	G	C	C	C	429	33	TBX18	3	3
ZNF292	23036	broad.mit.edu	37	6	87968870	87968870	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87968870A>T	uc003plm.3	+	c.5523A>T	c.(5521-5523)TTA>TTT	p.L1841F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1841	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.567568	68.778019	68.925006	21	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87968870	87968870	18418	6	A	T	T	T	193	15	ZNF292	3	3
GJA10	84694	broad.mit.edu	37	6	90604983	90604983	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90604983G>T	uc011eaa.1	+	c.796G>T	c.(796-798)GTG>TTG	p.V266L		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	266	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)										0.114754	17.757279	35.60601	14	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90604983	90604983	6669	6	G	T	T	T	624	48	GJA10	2	2
C6orf167	253714	broad.mit.edu	37	6	97597755	97597755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97597755C>T	uc003ppb.2	-	c.3624G>A	c.(3622-3624)TGG>TGA	p.W1208*	C6orf167_uc011eaf.1_Nonsense_Mutation_p.W1168*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1208					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.136986	19.998518	29.30852	10	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97597755	97597755	2447	6	C	T	T	T	286	22	C6orf167	5	2
SLC26A5	375611	broad.mit.edu	37	7	103017307	103017307	+	Silent	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103017307A>T	uc003vbz.2	-	c.1989T>A	c.(1987-1989)ATT>ATA	p.I663I	SLC26A5_uc003vbt.1_Silent_p.I663I|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Non-coding_Transcript|SLC26A5_uc003vbx.2_Silent_p.I631I|SLC26A5_uc003vby.2_Non-coding_Transcript|SLC26A5_uc010liy.2_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	663	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.189189	45.905312	55.941938	21	90	KEEP	---	---	---	---	capture		Silent	SNP	103017307	103017307	15017	7	A	T	T	T	60	5	SLC26A5	3	3
RELN	5649	broad.mit.edu	37	7	103155820	103155820	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103155820C>T	uc003vca.2	-	c.7931G>A	c.(7930-7932)AGA>AAA	p.R2644K	RELN_uc010liz.2_Missense_Mutation_p.R2644K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2644					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.145299	29.993866	44.155599	17	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103155820	103155820	13689	7	C	T	T	T	416	32	RELN	2	2
PIK3CG	5294	broad.mit.edu	37	7	106524641	106524641	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106524641C>T	uc003vdv.3	+	c.2802C>T	c.(2800-2802)GGC>GGT	p.G934G	PIK3CG_uc003vdu.2_Silent_p.G934G|PIK3CG_uc003vdw.2_Silent_p.G934G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	934	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.329545	180.693372	185.224553	58	118	KEEP	---	---	---	---	capture		Silent	SNP	106524641	106524641	12340	7	C	T	T	T	353	28	PIK3CG	2	2
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107743504G>A	uc010ljo.1	-	c.1165C>T	c.(1165-1167)CCC>TCC	p.P389S	LAMB4_uc003vey.2_Missense_Mutation_p.P389S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	389	Laminin EGF-like 2.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.324324	71.168821	73.1987	24	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107743504	107743504	8936	7	G	A	A	A	533	41	LAMB4	2	2
CADPS2	93664	broad.mit.edu	37	7	122261550	122261550	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122261550C>A	uc010lkp.2	-	c.1089G>T	c.(1087-1089)CTG>CTT	p.L363L	CADPS2_uc003vkg.3_Silent_p.L63L|CADPS2_uc010lkq.2_Silent_p.L363L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	363					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.1	26.94098	68.508106	26	234	KEEP	---	---	---	---	capture		Silent	SNP	122261550	122261550	2687	7	C	A	A	A	210	17	CADPS2	2	2
CREB3L2	64764	broad.mit.edu	37	7	137586170	137586170	+	Splice_Site_SNP	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137586170T>A	uc003vtw.2	-	c.975_splice	c.e8-1	p.K325_splice	CREB3L2_uc003vtx.1_Splice_Site_SNP_p.K325_splice|CREB3L2_uc003vtv.2_Splice_Site_SNP_p.K262_splice	NM_194071	NP_919047			cAMP responsive element binding protein 3-like						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|ovary(1)	159										123				0.121212	11.056859	20.33428	8	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	137586170	137586170	3996	7	T	A	A	A	689	53	CREB3L2	5	3
ZC3HAV1L	92092	broad.mit.edu	37	7	138713464	138713464	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138713464C>G	uc003vum.1	-	c.744G>C	c.(742-744)AAG>AAC	p.K248N		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	248											0														0.170213	79.979338	99.321676	32	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138713464	138713464	18164	7	C	G	G	G	415	32	ZC3HAV1L	3	3
KEL	3792	broad.mit.edu	37	7	142640627	142640627	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142640627A>G	uc003wcb.2	-	c.1649T>C	c.(1648-1650)GTA>GCA	p.V550A		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	550	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.164021	151.924333	192.430925	62	316	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142640627	142640627	8448	7	A	G	G	G	182	14	KEL	4	4
OR2A14	135941	broad.mit.edu	37	7	143827010	143827010	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143827010C>A	uc011kua.1	+	c.805C>A	c.(805-807)CAG>AAG	p.Q269K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.160804	64.481256	86.264619	32	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143827010	143827010	11382	7	C	A	A	A	325	25	OR2A14	2	2
CHPF2	54480	broad.mit.edu	37	7	150932245	150932245	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150932245C>A	uc003wjr.1	+	c.375C>A	c.(373-375)GCC>GCA	p.A125A	CHPF2_uc003wjq.1_Silent_p.A117A	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	125	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1														0.328125	58.551985	60.229037	21	43	KEEP	---	---	---	---	capture		Silent	SNP	150932245	150932245	3503	7	C	A	A	A	275	22	CHPF2	2	2
HNRNPA2B1	3181	broad.mit.edu	37	7	26236615	26236615	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:26236615T>G	uc003sxr.3	-	c.323A>C	c.(322-324)CAT>CCT	p.H108P	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.H96P	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	108					nuclear mRNA splicing, via spliceosome|RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)	1										717				0.132075	14.087908	21.056869	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26236615	26236615	7551	7	T	G	G	G	663	51	HNRNPA2B1	4	4
HNRNPA2B1	3181	broad.mit.edu	37	7	26236626	26236626	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:26236626T>G	uc003sxr.3	-	c.312A>C	c.(310-312)AAA>AAC	p.K104N	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.K92N	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	104	RRM 1.				nuclear mRNA splicing, via spliceosome|RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)	1										717				0.12766	11.716257	18.068016	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26236626	26236626	7551	7	T	G	G	G	777	60	HNRNPA2B1	4	4
WIPF3	644150	broad.mit.edu	37	7	29928925	29928925	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29928925A>T	uc003taj.1	+	c.1253A>T	c.(1252-1254)GAC>GTC	p.D418V		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	418					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	actin binding			ovary(1)	1														0.351351	37.763728	38.484956	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29928925	29928925	17943	7	A	T	T	T	130	10	WIPF3	3	3
GHRHR	2692	broad.mit.edu	37	7	31010827	31010827	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31010827C>G	uc003tbx.2	+	c.460C>G	c.(460-462)CTC>GTC	p.L154V	GHRHR_uc003tbw.1_Missense_Mutation_p.L154V|GHRHR_uc003tby.2_Missense_Mutation_p.L90V|GHRHR_uc003tbz.2_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	154	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.5	7.750108	7.750108	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31010827	31010827	6641	7	C	G	G	G	416	32	GHRHR	3	3
BMPER	168667	broad.mit.edu	37	7	34091581	34091581	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34091581G>T	uc011kap.1	+	c.785G>T	c.(784-786)AGG>ATG	p.R262M		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	262	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.398714	398.657198	401.441795	124	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34091581	34091581	1493	7	G	T	T	T	455	35	BMPER	2	2
POU6F2	11281	broad.mit.edu	37	7	39243834	39243834	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:39243834G>C	uc003thb.1	+	c.191G>C	c.(190-192)GGG>GCG	p.G64A	POU6F2_uc010kxo.2_Missense_Mutation_p.G56A	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	64					central nervous system development|ganglion mother cell fate determination|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1														0.216216	41.858528	47.357133	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39243834	39243834	12715	7	G	C	C	C	559	43	POU6F2	3	3
HIP1	3092	broad.mit.edu	37	7	75171247	75171247	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75171247C>A	uc003uds.1	-	c.2943G>T	c.(2941-2943)ATG>ATT	p.M981I	HIP1_uc011kfz.1_Missense_Mutation_p.M807I	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	981	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.247191	61.004638	66.182159	22	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75171247	75171247	7399	7	C	A	A	A	273	21	HIP1	2	2
PCLO	27445	broad.mit.edu	37	7	82544499	82544499	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82544499C>G	uc003uhx.2	-	c.12803G>C	c.(12802-12804)GGA>GCA	p.G4268A	PCLO_uc003uhv.2_Missense_Mutation_p.G4268A|PCLO_uc010lec.2_Missense_Mutation_p.G1233A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4199					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.1875	8.515543	9.978308	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82544499	82544499	12003	7	C	G	G	G	390	30	PCLO	3	3
SLC25A40	55972	broad.mit.edu	37	7	87470973	87470973	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87470973T>C	uc003uje.2	-	c.798A>G	c.(796-798)CAA>CAG	p.Q266Q		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	266	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0	Esophageal squamous(14;0.00202)													0.25	6.246708	6.700754	2	6	KEEP	---	---	---	---	capture		Silent	SNP	87470973	87470973	15002	7	T	C	C	C	777	60	SLC25A40	4	4
TRRAP	8295	broad.mit.edu	37	7	98533224	98533224	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98533224A>G	uc003upp.2	+	c.4037A>G	c.(4036-4038)GAA>GGA	p.E1346G	TRRAP_uc011kis.1_Missense_Mutation_p.E1346G|TRRAP_uc003upr.2_Missense_Mutation_p.E1038G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.388889	74.165022	74.748466	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98533224	98533224	17152	7	A	G	G	G	117	9	TRRAP	4	4
CYP3A7	1551	broad.mit.edu	37	7	99311132	99311132	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99311132C>T	uc003uru.2	-	c.825G>A	c.(823-825)ATG>ATA	p.M275I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	275					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)													0.104167	14.91107	37.366036	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99311132	99311132	4346	7	C	T	T	T	377	29	CYP3A7	2	2
CYP3A4	1576	broad.mit.edu	37	7	99358457	99358457	+	Silent	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99358457A>C	uc003urv.1	-	c.1401T>G	c.(1399-1401)CCT>CCG	p.P467P	CYP3A4_uc003urw.1_Silent_p.P466P|CYP3A4_uc011kiz.1_Silent_p.P426P|CYP3A4_uc011kja.1_Silent_p.P418P|CYP3A4_uc011kjb.1_Silent_p.P317P	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	467					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|vitamin D metabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)					219				0.526012	323.637869	323.739922	91	82	KEEP	---	---	---	---	capture		Silent	SNP	99358457	99358457	4343	7	A	C	C	C	28	3	CYP3A4	4	4
KLF10	7071	broad.mit.edu	37	8	103664623	103664623	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103664623C>G	uc011lhk.1	-	c.39G>C	c.(37-39)GAG>GAC	p.E13D	KLF10_uc011lhj.1_Missense_Mutation_p.E2D	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	13					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			Esophageal Squamous(16;495 519 2144 16528 44005)								0.130435	15.125475	24.293042	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103664623	103664623	8650	8	C	G	G	G	311	24	KLF10	3	3
RIMS2	9699	broad.mit.edu	37	8	104927789	104927789	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104927789A>C	uc003yls.2	+	c.1213A>C	c.(1213-1215)AGT>CGT	p.S405R	RIMS2_uc003ylp.2_Missense_Mutation_p.S627R|RIMS2_uc003ylw.2_Missense_Mutation_p.S435R|RIMS2_uc003ylq.2_Missense_Mutation_p.S435R|RIMS2_uc003ylr.2_Missense_Mutation_p.S482R|RIMS2_uc003ylt.2_Missense_Mutation_p.S28R|RIMS2_uc003ylu.1_Missense_Mutation_p.S18R|RIMS2_uc003ylv.1_Missense_Mutation_p.S18R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	705	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.172414	23.612342	29.493045	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104927789	104927789	13845	8	A	C	C	C	39	3	RIMS2	4	4
TM7SF4	81501	broad.mit.edu	37	8	105361663	105361663	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105361663C>T	uc003ylx.1	+	c.883C>T	c.(883-885)CTG>TTG	p.L295L		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	295	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.281955	198.305826	209.673606	75	191	KEEP	---	---	---	---	capture		Silent	SNP	105361663	105361663	16506	8	C	T	T	T	363	28	TM7SF4	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110457293	110457293	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457293C>A	uc003yne.2	+	c.5195C>A	c.(5194-5196)CCT>CAT	p.P1732H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1732	IPT/TIG 9.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.460888	707.997182	708.628119	218	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110457293	110457293	12397	8	C	A	A	A	312	24	PKHD1L1	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110504206	110504206	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110504206T>A	uc003yne.2	+	c.10219T>A	c.(10219-10221)TGG>AGG	p.W3407R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3407	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.25	9.119719	9.801024	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110504206	110504206	12397	8	T	A	A	A	715	55	PKHD1L1	3	3
CSMD3	114788	broad.mit.edu	37	8	113275890	113275890	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113275890A>T	uc003ynu.2	-	c.9840T>A	c.(9838-9840)AGT>AGA	p.S3280R	CSMD3_uc003yns.2_Missense_Mutation_p.S2482R|CSMD3_uc003ynt.2_Missense_Mutation_p.S3240R|CSMD3_uc011lhx.1_Missense_Mutation_p.S3111R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3280	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.410256	51.091716	51.366341	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113275890	113275890	4087	8	A	T	T	T	76	6	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113651001	113651001	+	Silent	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113651001A>G	uc003ynu.2	-	c.3450T>C	c.(3448-3450)TAT>TAC	p.Y1150Y	CSMD3_uc003yns.2_Silent_p.Y422Y|CSMD3_uc003ynt.2_Silent_p.Y1110Y|CSMD3_uc011lhx.1_Silent_p.Y1046Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1150	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.219512	45.101927	51.048389	18	64	KEEP	---	---	---	---	capture		Silent	SNP	113651001	113651001	4087	8	A	G	G	G	102	8	CSMD3	4	4
EIF3H	8667	broad.mit.edu	37	8	117658741	117658741	+	Silent	SNP	C	A	A	rs117371800	by1000genomes	TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:117658741C>A	uc003yob.2	-	c.972G>T	c.(970-972)CCG>CCT	p.P324P	EIF3H_uc003yoa.2_Silent_p.P310P	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	310					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)								p.P310P(SUDHL4-Tumor)	241				0.184066	153.825652	187.902631	67	297	KEEP	---	---	---	---	capture		Silent	SNP	117658741	117658741	5209	8	C	A	A	A	340	27	EIF3H	1	1
ST3GAL1	6482	broad.mit.edu	37	8	134478232	134478232	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134478232C>A	uc003yuk.2	-	c.408G>T	c.(406-408)TCG>TCT	p.S136S	ST3GAL1_uc003yum.2_Silent_p.S136S	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	136	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)											0.180556	29.338302	36.240239	13	59	KEEP	---	---	---	---	capture		Silent	SNP	134478232	134478232	15732	8	C	A	A	A	288	23	ST3GAL1	1	1
FAM135B	51059	broad.mit.edu	37	8	139144901	139144901	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139144901C>A	uc003yuy.2	-	c.4156G>T	c.(4156-4158)GTG>TTG	p.V1386L	FAM135B_uc003yux.2_Missense_Mutation_p.V1287L|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1386										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.532394	650.256939	650.57862	189	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139144901	139144901	5646	8	C	A	A	A	221	17	FAM135B	2	2
FAM135B	51059	broad.mit.edu	37	8	139164526	139164527	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139164526_139164527CC>AA	uc003yuy.2	-	c.2191_2192GG>TT	c.(2191-2193)GGA>TTA	p.G731L	FAM135B_uc003yux.2_Missense_Mutation_p.G632L|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.G293L|FAM135B_uc003yvb.2_Missense_Mutation_p.G293L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	731										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.33945	104.835673	107.322421	37	72	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	139164526	139164527	5646	8	CC	AA	AA	AA	390	30	FAM135B	2	2
C8orf80	389643	broad.mit.edu	37	8	27891171	27891171	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27891171A>G	uc003xgm.3	-	c.1655T>C	c.(1654-1656)GTT>GCT	p.V552A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	552						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)										0.094488	27.8053	69.750683	24	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27891171	27891171	2551	8	A	G	G	G	26	2	C8orf80	4	4
CSMD1	64478	broad.mit.edu	37	8	2855548	2855548	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2855548G>T	uc011kwk.1	-	c.8365C>A	c.(8365-8367)CTG>ATG	p.L2789M	CSMD1_uc011kwj.1_Missense_Mutation_p.L2118M|CSMD1_uc010lrg.2_Missense_Mutation_p.L799M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2789	Extracellular (Potential).|Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.282443	100.218783	105.789652	37	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2855548	2855548	4085	8	G	T	T	T	425	33	CSMD1	2	2
TEX15	56154	broad.mit.edu	37	8	30703478	30703478	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30703478G>C	uc003xil.2	-	c.3056C>G	c.(3055-3057)ACT>AGT	p.T1019S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1019										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.151961	67.2835	90.945784	31	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30703478	30703478	16306	8	G	C	C	C	468	36	TEX15	3	3
PLAT	5327	broad.mit.edu	37	8	42046532	42046532	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42046532C>G	uc003xos.2	-	c.173G>C	c.(172-174)CGC>CCC	p.R58P	PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.R58P|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.R58P|PLAT_uc011lcn.1_Missense_Mutation_p.R58P	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	58	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)				p.R58H(SNU81-Tumor)	176				0.192171	265.778064	315.518433	108	454	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42046532	42046532	12447	8	C	G	G	G	351	27	PLAT	3	3
PXDNL	137902	broad.mit.edu	37	8	52359614	52359614	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52359614C>T	uc003xqu.3	-	c.1475G>A	c.(1474-1476)AGT>AAT	p.S492N		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	492	Ig-like C2-type 3.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.1766	177.747408	222.510346	80	373	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52359614	52359614	13306	8	C	T	T	T	260	20	PXDNL	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767721	77767721	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767721C>A	uc003yav.2	+	c.8429C>A	c.(8428-8430)CCT>CAT	p.P2810H	ZFHX4_uc003yau.1_Missense_Mutation_p.P2855H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2810H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2810					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.409836	78.161767	78.595539	25	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767721	77767721	18223	8	C	A	A	A	312	24	ZFHX4	2	2
LRRCC1	85444	broad.mit.edu	37	8	86042277	86042277	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86042277A>G	uc003ycw.2	+	c.1750A>G	c.(1750-1752)AAA>GAA	p.K584E	LRRCC1_uc010lzz.1_Non-coding_Transcript|LRRCC1_uc010maa.1_Missense_Mutation_p.K285E|LRRCC1_uc003ycx.2_Missense_Mutation_p.K491E|LRRCC1_uc003ycy.2_Missense_Mutation_p.K564E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	584	Potential.				cell division|mitosis	centriole|nucleus					0														0.2	32.367152	37.387943	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86042277	86042277	9402	8	A	G	G	G	117	9	LRRCC1	4	4
COL15A1	1306	broad.mit.edu	37	9	101818644	101818644	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101818644G>T	uc004azb.1	+	c.3295G>T	c.(3295-3297)GGG>TGG	p.G1099W		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1099	Triple-helical region 8 (COL8).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.533333	23.598771	23.613119	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101818644	101818644	3810	9	G	T	T	T	559	43	COL15A1	2	2
EPB41L4B	54566	broad.mit.edu	37	9	111947854	111947854	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111947854T>C	uc004bdz.1	-	c.2333A>G	c.(2332-2334)CAC>CGC	p.H778R		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	778						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2														0.448276	39.369968	39.437675	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111947854	111947854	5349	9	T	C	C	C	767	59	EPB41L4B	4	4
CEP110	11064	broad.mit.edu	37	9	123920102	123920102	+	Silent	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123920102A>C	uc004bkx.1	+	c.4581A>C	c.(4579-4581)GCA>GCC	p.A1527A	CEP110_uc004bla.1_Silent_p.A975A|CEP110_uc010mvo.1_Silent_p.A196A|CEP110_uc004blb.1_Silent_p.A196A|CEP110_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CE110_HUMAN	centrosomal protein 110kDa	1527	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			ovary(3)|skin(1)	4										584				0.395062	101.785581	102.565266	32	49	KEEP	---	---	---	---	capture		Silent	SNP	123920102	123920102	3378	9	A	C	C	C	80	7	CEP110	4	4
RABGAP1	23637	broad.mit.edu	37	9	125782613	125782613	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125782613A>T	uc011lzh.1	+	c.1669A>T	c.(1669-1671)AAG>TAG	p.K557*	RABGAP1_uc004bnl.3_Non-coding_Transcript	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	557					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5														0.526786	190.028544	190.098256	59	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125782613	125782613	13423	9	A	T	T	T	117	9	RABGAP1	5	3
PTPLAD2	401494	broad.mit.edu	37	9	21011691	21011691	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21011691G>T	uc010miq.1	-	c.387C>A	c.(385-387)TAC>TAA	p.Y129*	PTPLAD2_uc003zoj.1_Nonsense_Mutation_p.Y92*|PTPLAD2_uc010mir.1_Nonsense_Mutation_p.Y129*	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	129	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity				0				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)										0.419355	45.071727	45.247247	13	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21011691	21011691	13231	9	G	T	T	T	620	48	PTPLAD2	5	2
LINGO2	158038	broad.mit.edu	37	9	27949535	27949535	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27949535G>T	uc003zqu.1	-	c.1135C>A	c.(1135-1137)CAA>AAA	p.Q379K	LINGO2_uc010mjf.1_Missense_Mutation_p.Q379K|LINGO2_uc003zqv.1_Missense_Mutation_p.Q379K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	379	LRRCT.|Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)										0.6	57.955261	58.218206	18	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27949535	27949535	9142	9	G	T	T	T	598	46	LINGO2	2	2
TAF1L	138474	broad.mit.edu	37	9	32630480	32630480	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32630480G>T	uc003zrg.1	-	c.5098C>A	c.(5098-5100)CCA>ACA	p.P1700T		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1700					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.2891	328.283514	345.107216	122	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32630480	32630480	16044	9	G	T	T	T	533	41	TAF1L	2	2
KIF24	347240	broad.mit.edu	37	9	34257209	34257209	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34257209T>G	uc003zua.3	-	c.2396A>C	c.(2395-2397)CAG>CCG	p.Q799P	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0			LUSC - Lung squamous cell carcinoma(29;0.0107)											0.143813	79.221809	115.751818	43	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34257209	34257209	8603	9	T	G	G	G	715	55	KIF24	4	4
PIGO	84720	broad.mit.edu	37	9	35092310	35092310	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35092310A>C	uc003zwd.2	-	c.1574T>G	c.(1573-1575)TTT>TGT	p.F525C	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.F88C	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	525	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.573529	138.334265	138.65469	39	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35092310	35092310	12318	9	A	C	C	C	13	1	PIGO	4	4
FRMPD1	22844	broad.mit.edu	37	9	37724227	37724227	+	Silent	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37724227T>C	uc004aag.1	+	c.522T>C	c.(520-522)AAT>AAC	p.N174N	FRMPD1_uc004aah.1_Silent_p.N174N|FRMPD1_uc011lqm.1_5'UTR|FRMPD1_uc011lqn.1_Silent_p.N43N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	174						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.786667	226.870274	232.565295	59	16	KEEP	---	---	---	---	capture		Silent	SNP	37724227	37724227	6307	9	T	C	C	C	673	52	FRMPD1	4	4
ALDH1B1	219	broad.mit.edu	37	9	38396791	38396791	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38396791G>T	uc004aay.2	+	c.1046G>T	c.(1045-1047)GGG>GTG	p.G349V		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	349					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)									0.709091	132.245256	134.398797	39	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38396791	38396791	496	9	G	T	T	T	559	43	ALDH1B1	2	2
ZNF658	26149	broad.mit.edu	37	9	40772612	40772612	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40772612C>A	uc004abs.2	-	c.2663G>T	c.(2662-2664)GGG>GTG	p.G888V	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G888V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	888	C2H2-type 19; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.391304	110.276846	111.229697	36	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40772612	40772612	18664	9	C	A	A	A	286	22	ZNF658	2	2
FLJ46321	389763	broad.mit.edu	37	9	84607513	84607513	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607513C>T	uc004amn.2	+	c.2128C>T	c.(2128-2130)CTG>TTG	p.L710L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	710						integral to membrane					0														0.424242	138.534582	139.030228	42	57	KEEP	---	---	---	---	capture		Silent	SNP	84607513	84607513	6174	9	C	T	T	T	415	32	FLJ46321	2	2
PTPRD	5789	broad.mit.edu	37	9	8486043	8486043	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8486043A>T	uc003zkk.2	-	c.2774T>A	c.(2773-2775)CTT>CAT	p.L925H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L916H|PTPRD_uc003zkm.2_Missense_Mutation_p.L912H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	925	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.190476	27.261555	32.9059	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8486043	8486043	13256	9	A	T	T	T	39	3	PTPRD	3	3
HNRNPK	3190	broad.mit.edu	37	9	86592668	86592668	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86592668T>C	uc004anf.3	-	c.92A>G	c.(91-93)CAA>CGA	p.Q31R	HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Missense_Mutation_p.Q31R|HNRNPK_uc004ang.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anh.3_Missense_Mutation_p.Q31R|HNRNPK_uc011lsx.1_Missense_Mutation_p.Q31R|HNRNPK_uc004ani.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anj.3_Missense_Mutation_p.Q31R|HNRNPK_uc004ann.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anl.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anm.3_Missense_Mutation_p.Q31R|RMI1_uc004anq.3_5'Flank|RMI1_uc004anr.3_5'Flank	NM_031263	NP_112553	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	31	Necessary for interaction with DDX1.				interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1														0.25	61.534355	66.306197	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86592668	86592668	7561	9	T	C	C	C	819	63	HNRNPK	4	4
SPTLC1	10558	broad.mit.edu	37	9	94794786	94794786	+	Silent	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94794786C>G	uc004arl.1	-	c.1383G>C	c.(1381-1383)GCG>GCC	p.A461A	SPTLC1_uc011ltv.1_Missense_Mutation_p.V451L	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	461	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.155172	21.540095	28.124657	9	49	KEEP	---	---	---	---	capture		Silent	SNP	94794786	94794786	15637	9	C	G	G	G	236	19	SPTLC1	3	3
DOCK11	139818	broad.mit.edu	37	X	117788700	117788700	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117788700T>A	uc004eqp.2	+	c.4831T>A	c.(4831-4833)TAT>AAT	p.Y1611N	DOCK11_uc004eqq.2_Missense_Mutation_p.Y1390N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1611	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3														0.75431	624.239281	637.901472	175	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117788700	117788700	4870	23	T	A	A	A	689	53	DOCK11	3	3
KIAA1210	57481	broad.mit.edu	37	X	118238981	118238981	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118238981G>A	uc004era.3	-	c.1042C>T	c.(1042-1044)CCA>TCA	p.P348S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	348										ovary(4)|skin(1)	5														0.107206	65.634238	152.765038	61	508	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118238981	118238981	8522	23	G	A	A	A	572	44	KIAA1210	2	2
ODZ1	10178	broad.mit.edu	37	X	123631060	123631060	+	Silent	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123631060G>C	uc010nqy.2	-	c.3501C>G	c.(3499-3501)GTC>GTG	p.V1167V	ODZ1_uc011muj.1_Silent_p.V1166V|ODZ1_uc004euj.2_Silent_p.V1167V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1167	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.647887	171.770249	173.138806	46	25	KEEP	---	---	---	---	capture		Silent	SNP	123631060	123631060	11239	23	G	C	C	C	574	45	ODZ1	3	3
DCAF12L1	139170	broad.mit.edu	37	X	125686243	125686243	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125686243A>G	uc004eul.2	-	c.349T>C	c.(349-351)TGT>CGT	p.C117R		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	117										skin(3)	3														0.289855	55.771701	58.502706	20	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125686243	125686243	4435	23	A	G	G	G	78	6	DCAF12L1	4	4
ARHGEF6	9459	broad.mit.edu	37	X	135829672	135829672	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135829672G>A	uc004fab.2	-	c.329C>T	c.(328-330)ACA>ATA	p.T110I	ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	110	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.290909	43.675951	45.831267	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135829672	135829672	925	23	G	A	A	A	624	48	ARHGEF6	2	2
GPR101	83550	broad.mit.edu	37	X	136112543	136112543	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136112543C>T	uc011mwh.1	-	c.1291G>A	c.(1291-1293)GTA>ATA	p.V431I		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	431	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.181818	30.609797	37.928803	14	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136112543	136112543	6896	23	C	T	T	T	234	18	GPR101	2	2
SLITRK2	84631	broad.mit.edu	37	X	144906014	144906014	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144906014C>A	uc004fcd.2	+	c.2071C>A	c.(2071-2073)CCT>ACT	p.P691T	SLITRK2_uc010nsp.2_Missense_Mutation_p.P691T|SLITRK2_uc010nso.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P691T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P691T|SLITRK2_uc011mws.1_Missense_Mutation_p.P691T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P691T|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	691	Cytoplasmic (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.692308	95.538342	96.823389	27	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144906014	144906014	15241	23	C	A	A	A	234	18	SLITRK2	2	2
GLRA2	2742	broad.mit.edu	37	X	14627186	14627186	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14627186C>T	uc010nep.2	+	c.789C>T	c.(787-789)ATC>ATT	p.I263I	GLRA2_uc010neq.2_Silent_p.I263I|GLRA2_uc004cwe.3_Silent_p.I263I|GLRA2_uc011mio.1_Silent_p.I174I|GLRA2_uc011mip.1_Silent_p.I241I	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	263	Helical; (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.238095	67.721505	74.300611	25	80	KEEP	---	---	---	---	capture		Silent	SNP	14627186	14627186	6723	23	C	T	T	T	382	30	GLRA2	2	2
CNGA2	1260	broad.mit.edu	37	X	150912021	150912021	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150912021A>G	uc004fey.1	+	c.1046A>G	c.(1045-1047)GAG>GGG	p.E349G		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	349	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.139683	86.785069	126.288797	44	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150912021	150912021	3735	23	A	G	G	G	143	11	CNGA2	4	4
GABRA3	2556	broad.mit.edu	37	X	151533027	151533027	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151533027T>A	uc010ntk.1	-	c.16A>T	c.(16-18)ACA>TCA	p.T6S		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	6					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.168498	98.973131	127.38736	46	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151533027	151533027	6413	23	T	A	A	A	780	60	GABRA3	3	3
L1CAM	3897	broad.mit.edu	37	X	153134081	153134081	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153134081C>T	uc004fjb.2	-	c.1481G>A	c.(1480-1482)CGC>CAC	p.R494H	L1CAM_uc004fjc.2_Missense_Mutation_p.R494H|L1CAM_uc010nuo.2_Missense_Mutation_p.R489H|L1CAM_uc004fjd.1_Missense_Mutation_p.R308H	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	494	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.769231	102.068477	104.658969	30	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153134081	153134081	8911	23	C	T	T	T	351	27	L1CAM	1	1
SYAP1	94056	broad.mit.edu	37	X	16773137	16773137	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16773137C>T	uc004cxp.2	+	c.645C>T	c.(643-645)CTC>CTT	p.L215L	SYAP1_uc004cxo.2_Silent_p.L215L|SYAP1_uc011miv.1_Silent_p.L181L	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	215											0	Hepatocellular(33;0.0997)													0.45	56.742587	56.830042	18	22	KEEP	---	---	---	---	capture		Silent	SNP	16773137	16773137	15946	23	C	T	T	T	366	29	SYAP1	2	2
SAT1	6303	broad.mit.edu	37	X	23801932	23801932	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23801932G>A	uc004dau.2	+	c.134G>A	c.(133-135)GGT>GAT	p.G45D	SAT1_uc010nfv.2_Missense_Mutation_p.G45D|SAT1_uc004dav.2_Non-coding_Transcript	NM_002970	NP_002961	P21673	SAT1_HUMAN	diamine N-acetyltransferase 1	45	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)									0.551724	52.701198	52.76848	16	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23801932	23801932	14332	23	G	A	A	A	572	44	SAT1	2	2
MAGEB3	4114	broad.mit.edu	37	X	30254960	30254961	+	Missense_Mutation	DNP	TA	GT	GT			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254960_30254961TA>GT	uc004dca.1	+	c.919_920TA>GT	c.(919-921)TAT>GTT	p.Y307V		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	307	MAGE.										0														0.34375	36.016307	36.70593	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	30254960	30254961	9558	23	TA	GT	GT	GT	741	57	MAGEB3	4	4
FAM47C	442444	broad.mit.edu	37	X	37028810	37028810	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37028810C>A	uc004ddl.1	+	c.2327C>A	c.(2326-2328)CCA>CAA	p.P776Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	776										ovary(3)	3														0.583333	23.226136	23.298697	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37028810	37028810	5792	23	C	A	A	A	273	21	FAM47C	2	2
USP9X	8239	broad.mit.edu	37	X	41000347	41000347	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41000347A>G	uc004dfb.2	+	c.899A>G	c.(898-900)AAT>AGT	p.N300S	USP9X_uc004dfc.2_Missense_Mutation_p.N300S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	300					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.833333	114.473753	118.266819	30	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41000347	41000347	17654	23	A	G	G	G	52	4	USP9X	4	4
GPKOW	27238	broad.mit.edu	37	X	48973405	48973405	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48973405C>T	uc004dmr.2	-	c.892G>A	c.(892-894)GAC>AAC	p.D298N		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	298						nucleus	nucleic acid binding			ovary(2)	2														0.19171	247.453093	298.900416	111	468	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48973405	48973405	6887	23	C	T	T	T	377	29	GPKOW	2	2
GPKOW	27238	broad.mit.edu	37	X	48973451	48973451	+	Silent	SNP	C	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48973451C>T	uc004dmr.2	-	c.846G>A	c.(844-846)GTG>GTA	p.V282V		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	282						nucleus	nucleic acid binding			ovary(2)	2														0.218241	321.159419	366.155869	134	480	KEEP	---	---	---	---	capture		Silent	SNP	48973451	48973451	6887	23	C	T	T	T	366	29	GPKOW	2	2
MAGED1	9500	broad.mit.edu	37	X	51637834	51637834	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:51637834G>T	uc004dpn.2	+	c.157G>T	c.(157-159)GAT>TAT	p.D53Y	MAGED1_uc004dpm.2_Intron|MAGED1_uc004dpo.2_Intron|MAGED1_uc011mnx.1_Intron	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform a	Error:Variant_position_missing_in_Q9Y5V3_after_alignment					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)										Multiple Myeloma(10;0.10)			0.442308	78.521718	78.67192	23	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51637834	51637834	9564	23	G	T	T	T	481	37	MAGED1	1	1
HUWE1	10075	broad.mit.edu	37	X	53641577	53641577	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53641577T>A	uc004dsp.2	-	c.2179A>T	c.(2179-2181)AGT>TGT	p.S727C		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	727					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.427481	179.200964	179.796335	56	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53641577	53641577	7761	23	T	A	A	A	689	53	HUWE1	3	3
KIAA2022	340533	broad.mit.edu	37	X	73964291	73964291	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73964291G>C	uc004eby.2	-	c.101C>G	c.(100-102)GCA>GGA	p.A34G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.461538	43.898894	43.932267	12	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73964291	73964291	8580	23	G	C	C	C	598	46	KIAA2022	3	3
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	A	A			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78010954C>A	uc010nme.2	+	c.588C>A	c.(586-588)GTC>GTA	p.V196V		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3														0.425926	73.416311	73.674866	23	31	KEEP	---	---	---	---	capture		Silent	SNP	78010954	78010954	9280	23	C	A	A	A	405	32	LPAR4	2	2
P2RY10	27334	broad.mit.edu	37	X	78216847	78216847	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78216847G>C	uc004ede.2	+	c.830G>C	c.(829-831)TGT>TCT	p.C277S	P2RY10_uc004edf.2_Missense_Mutation_p.C277S	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	277	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.457792	514.651482	515.128826	141	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78216847	78216847	11760	23	G	C	C	C	624	48	P2RY10	3	3
POU3F4	5456	broad.mit.edu	37	X	82763575	82763575	+	Silent	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:82763575G>T	uc004eeg.2	+	c.243G>T	c.(241-243)GTG>GTT	p.V81V		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	81					regulation of transcription, DNA-dependent|sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.875	23.337833	24.427678	7	1	KEEP	---	---	---	---	capture		Silent	SNP	82763575	82763575	12707	23	G	T	T	T	574	45	POU3F4	2	2
DACH2	117154	broad.mit.edu	37	X	85403695	85403695	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85403695G>T	uc004eew.2	+	c.71G>T	c.(70-72)CGG>CTG	p.R24L	DACH2_uc004eex.2_Missense_Mutation_p.R24L|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														1	15.266757	15.20602	4	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85403695	85403695	4387	23	G	T	T	T	507	39	DACH2	1	1
PCDH11Y	83259	broad.mit.edu	37	Y	4925273	4925273	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:4925273C>G	uc004fqo.2	+	c.409C>G	c.(409-411)CAT>GAT	p.H137D	PCDH11Y_uc010nwg.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fql.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.H137D	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	137	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.713043	317.101527	321.783121	82	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4925273	4925273	11929	24	C	G	G	G	325	25	PCDH11Y	3	3
CCDC3	83643	broad.mit.edu	37	10	12940430	12940431	+	Frame_Shift_Ins	INS	-	G	G			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12940430_12940431insG	uc001ilq.1	-	c.798_799insC	c.(796-801)CCCTACfs	p.P266fs	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	266_267						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)											0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	12940430	12940431	2926	10	-	G	G	G	195	15	CCDC3	5	5
RASA3	22821	broad.mit.edu	37	13	114817623	114817623	+	Frame_Shift_Del	DEL	A	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114817623_114817623delA	uc001vui.2	-	c.181_181delT	c.(181-183)TACfs	p.Y61fs	RASA3_uc010tkk.1_Frame_Shift_Del_p.Y29fs|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	61	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	114817623	114817623	13522	13	A	-	-	-	169	13	RASA3	5	5
GNG2	54331	broad.mit.edu	37	14	52417413	52417413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52417413_52417413delC	uc001wzi.2	+	c.17_17delC	c.(16-18)ACCfs	p.T6fs	GNG2_uc001wzh.2_Non-coding_Transcript|GNG2_uc010aoc.1_Non-coding_Transcript|GNG2_uc001wzj.2_Non-coding_Transcript|GNG2_uc001wzk.2_Frame_Shift_Del_p.T6fs|GNG2_uc010aob.1_Non-coding_Transcript	NM_053064	NP_444292	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein),	6					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity				0	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)									0.31			210	473		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	52417413	52417413	6796	14	C	-	-	-	234	18	GNG2	5	5
SALL3	27164	broad.mit.edu	37	18	76753500	76753501	+	Frame_Shift_Ins	INS	-	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:76753500_76753501insC	uc002lmt.2	+	c.1509_1510insC	c.(1507-1512)CTGCCCfs	p.L503fs	SALL3_uc010dra.2_Frame_Shift_Ins_p.L110fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	503_504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)										0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	76753500	76753501	14292	18	-	C	C	C	587	46	SALL3	5	5
FAM71A	149647	broad.mit.edu	37	1	212799845	212799845	+	Frame_Shift_Del	DEL	G	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:212799845_212799845delG	uc001hjk.2	+	c.1626_1626delG	c.(1624-1626)GTGfs	p.V542fs		NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	542										ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)										0.41			77	113		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	212799845	212799845	5830	1	G	-	-	-	600	47	FAM71A	5	5
ITGB2	3689	broad.mit.edu	37	21	46306809	46306809	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46306809_46306809delC	uc002zgd.2	-	c.2089_2089delG	c.(2089-2091)GCAfs	p.A697fs	ITGB2_uc002zge.2_Frame_Shift_Del_p.A697fs|ITGB2_uc002zgf.3_Frame_Shift_Del_p.A697fs|ITGB2_uc011afl.1_Frame_Shift_Del_p.A619fs|ITGB2_uc010gpw.2_Frame_Shift_Del_p.A640fs|ITGB2_uc002zgg.2_Frame_Shift_Del_p.A697fs	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	697	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8				Colorectal(79;0.0669)	Simvastatin(DB00641)									0.33			12	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	46306809	46306809	8198	21	C	-	-	-	338	26	ITGB2	5	5
SLC5A1	6523	broad.mit.edu	37	22	32439304	32439304	+	Frame_Shift_Del	DEL	G	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32439304_32439304delG	uc003amc.2	+	c.36_36delG	c.(34-36)GCGfs	p.A12fs		NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	12	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding				0														0.31			24	53		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	32439304	32439304	15158	22	G	-	-	-	496	39	SLC5A1	5	5
INHA	3623	broad.mit.edu	37	2	220437222	220437223	+	Frame_Shift_Ins	INS	-	C	C	rs12720060		TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220437222_220437223insC	uc002vmk.1	+	c.126_127insC	c.(124-129)GGGCCCfs	p.G42fs	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	42_43					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)								OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	220437222	220437223	8041	2	-	C	C	C	535	42	INHA	5	5
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111317000_111317000delC	uc003dxw.2	+	c.889_889delC	c.(889-891)CCCfs	p.P297fs	CD96_uc003dxv.2_Frame_Shift_Del_p.P281fs|CD96_uc003dxx.2_Frame_Shift_Del_p.P281fs|CD96_uc010hpy.1_Frame_Shift_Del_p.P281fs|ZBED2_uc003dxy.2_5'Flank	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	297	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)	1														0.30			39	89		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	111317000	111317000	3176	3	C	-	-	-	390	30	CD96	5	5
FNDC1	84624	broad.mit.edu	37	6	159677570	159677571	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159677570_159677571delGT	uc010kjv.2	+	c.5081_5082delGT	c.(5080-5082)AGTfs	p.S1694fs		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1694	Fibronectin type-III 5.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.30			115	266		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	159677570	159677571	6210	6	GT	-	-	-	468	36	FNDC1	5	5
NOTCH1	4851	broad.mit.edu	37	9	139396481	139396482	+	Frame_Shift_Ins	INS	-	C	C			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139396481_139396482insC	uc004chz.2	-	c.5443_5444insG	c.(5443-5445)GACfs	p.D1815fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1815	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)						1552				0.64			25	14		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	139396481	139396482	10950	9	-	C	C	C	754	58	NOTCH1	5	5
OPHN1	4983	broad.mit.edu	37	X	67283757	67283757	+	Frame_Shift_Del	DEL	G	-	-			TCGA-55-1592-01	TCGA-55-1592-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67283757_67283757delG	uc004dww.3	-	c.2097_2097delC	c.(2095-2097)ACCfs	p.T699fs	OPHN1_uc011mpg.1_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	699	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2														0.73			8	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	67283757	67283757	11281	23	G	-	-	-	600	47	OPHN1	5	5
