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
BTRC	8945	broad.mit.edu	37	10	103281468	103281468	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103281468G>A	uc001kta.2	+	c.397G>A	c.(397-399)GAA>AAA	p.E133K	BTRC_uc001ktb.2_Missense_Mutation_p.E97K|BTRC_uc001ktc.2_Missense_Mutation_p.E107K	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of gene-specific transcription|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex	specific transcriptional repressor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)						243				0.318182	93.474769	96.713413	35	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103281468	103281468	1603	10	G	A	A	A	533	41	BTRC	2	2
NFKB2	4791	broad.mit.edu	37	10	104157747	104157747	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104157747G>A	uc001kvb.2	+	c.671G>A	c.(670-672)GGG>GAG	p.G224E	NFKB2_uc001kva.2_Missense_Mutation_p.G224E|NFKB2_uc010qqk.1_Missense_Mutation_p.G224E|NFKB2_uc001kvd.2_Missense_Mutation_p.G224E|NFKB2_uc009xxc.2_Missense_Mutation_p.G224E	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	224	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)						140				0.138889	54.36804	86.035744	35	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104157747	104157747	10776	10	G	A	A	A	559	43	NFKB2	2	2
SORCS3	22986	broad.mit.edu	37	10	106916929	106916929	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106916929A>T	uc001kyi.1	+	c.1516A>T	c.(1516-1518)AAG>TAG	p.K506*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	506	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.330275	98.361826	101.145291	36	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106916929	106916929	15432	10	A	T	T	T	65	5	SORCS3	5	3
NHLRC2	374354	broad.mit.edu	37	10	115636690	115636690	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115636690A>G	uc001lax.1	+	c.742A>G	c.(742-744)ATT>GTT	p.I248V		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	248	NHL 1.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)										0.304762	107.463947	111.032337	32	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115636690	115636690	10806	10	A	G	G	G	52	4	NHLRC2	4	4
VWA2	340706	broad.mit.edu	37	10	116038542	116038542	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116038542C>T	uc001lbl.1	+	c.765C>T	c.(763-765)GGC>GGT	p.G255G	VWA2_uc001lbk.1_Silent_p.G255G|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	255						extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)	4				Epithelial(162;0.036)|all cancers(201;0.0793)										0.392308	132.285789	133.608422	51	79	KEEP	---	---	---	---	capture		Silent	SNP	116038542	116038542	17808	10	C	T	T	T	314	25	VWA2	2	2
EIF3A	8661	broad.mit.edu	37	10	120801569	120801569	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120801569C>T	uc001ldu.2	-	c.3463G>A	c.(3463-3465)GAT>AAT	p.D1155N	EIF3A_uc010qsu.1_Missense_Mutation_p.D1121N|EIF3A_uc009xzg.1_Missense_Mutation_p.D194N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1155	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|24.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)						1050				0.386555	127.517028	128.860869	46	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120801569	120801569	5201	10	C	T	T	T	377	29	EIF3A	2	2
EBF3	253738	broad.mit.edu	37	10	131671761	131671761	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:131671761G>A	uc001lki.1	-	c.736C>T	c.(736-738)CGC>TGC	p.R246C		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	246					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding|transcription regulator activity			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)										0.368421	99.51054	100.951851	35	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131671761	131671761	5068	10	G	A	A	A	507	39	EBF3	1	1
CUBN	8029	broad.mit.edu	37	10	16948341	16948341	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16948341C>T	uc001ioo.2	-	c.7773G>A	c.(7771-7773)AGG>AGA	p.R2591R	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_5'UTR	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2591	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.333333	144.642851	148.483123	52	104	KEEP	---	---	---	---	capture		Silent	SNP	16948341	16948341	4211	10	C	T	T	T	389	30	CUBN	2	2
SVIL	6840	broad.mit.edu	37	10	29821031	29821031	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29821031G>A	uc001iut.1	-	c.1909C>T	c.(1909-1911)CGG>TGG	p.R637W	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	637					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.128	17.624831	34.506934	16	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29821031	29821031	15941	10	G	A	A	A	506	39	SVIL	1	1
RET	5979	broad.mit.edu	37	10	43606770	43606770	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43606770A>T	uc001jal.2	+	c.1379A>T	c.(1378-1380)GAC>GTC	p.D460V	RET_uc001jak.1_Missense_Mutation_p.D460V|RET_uc010qez.1_Missense_Mutation_p.D206V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	460	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.285714	120.941217	127.858236	48	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43606770	43606770	13705	10	A	T	T	T	130	10	RET	3	3
RUFY2	55680	broad.mit.edu	37	10	70154113	70154113	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70154113C>T	uc001job.2	-	c.599G>A	c.(598-600)TGT>TAT	p.C200Y	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.2_Missense_Mutation_p.C131Y|RUFY2_uc010qiw.1_Missense_Mutation_p.C107Y|RUFY2_uc001jod.1_Missense_Mutation_p.C165Y|RUFY2_uc009xpv.1_Missense_Mutation_p.C48Y|RUFY2_uc001joe.1_Missense_Mutation_p.C165Y	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	214	RUN.					nucleus	zinc ion binding			ovary(1)	1														0.190476	39.431699	48.842785	20	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70154113	70154113	14219	10	C	T	T	T	221	17	RUFY2	2	2
HK1	3098	broad.mit.edu	37	10	71142369	71142369	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71142369C>T	uc001jpj.3	+	c.1497C>T	c.(1495-1497)GCC>GCT	p.A499A	HK1_uc001jpg.3_Silent_p.A452A|HK1_uc001jph.3_Silent_p.A468A|HK1_uc001jpi.3_Silent_p.A468A|HK1_uc001jpk.3_Silent_p.A463A|HK1_uc009xqd.2_Silent_p.A342A|HK1_uc001jpl.3_Silent_p.A464A	NM_033500	NP_277035	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI-td	464	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1														0.382979	48.839649	49.403521	18	29	KEEP	---	---	---	---	capture		Silent	SNP	71142369	71142369	7481	10	C	T	T	T	288	23	HK1	1	1
SFMBT2	57713	broad.mit.edu	37	10	7214464	7214464	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7214464G>T	uc009xio.1	-	c.2144C>A	c.(2143-2145)TCG>TAG	p.S715*	SFMBT2_uc001ijn.1_Nonsense_Mutation_p.S715*|SFMBT2_uc010qay.1_Nonsense_Mutation_p.S550*	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	715						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6														0.304348	32.523082	34.103736	14	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7214464	7214464	14647	10	G	T	T	T	481	37	SFMBT2	5	1
KIAA1274	27143	broad.mit.edu	37	10	72298677	72298677	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72298677G>T	uc001jrd.3	+	c.1482G>T	c.(1480-1482)GCG>GCT	p.A494A	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	494										ovary(2)|central_nervous_system(1)	3														0.381503	187.499935	189.632577	66	107	KEEP	---	---	---	---	capture		Silent	SNP	72298677	72298677	8529	10	G	T	T	T	483	38	KIAA1274	1	1
CDH23	64072	broad.mit.edu	37	10	73553131	73553131	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73553131G>T	uc001jrx.3	+	c.6446G>T	c.(6445-6447)CGG>CTG	p.R2149L	CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2149	Cadherin 20.|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														0.35	86.502066	88.483324	35	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73553131	73553131	3237	10	G	T	T	T	507	39	CDH23	1	1
KCNMA1	3778	broad.mit.edu	37	10	78713662	78713662	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78713662G>T	uc001jxn.2	-	c.2381C>A	c.(2380-2382)CCT>CAT	p.P794H	KCNMA1_uc001jxj.2_Missense_Mutation_p.P740H|KCNMA1_uc001jxk.1_Missense_Mutation_p.P412H|KCNMA1_uc009xrt.1_Missense_Mutation_p.P585H|KCNMA1_uc001jxl.1_Missense_Mutation_p.P419H|KCNMA1_uc001jxo.2_Missense_Mutation_p.P736H|KCNMA1_uc001jxm.2_Missense_Mutation_p.P736H|KCNMA1_uc001jxq.2_Missense_Mutation_p.P739H	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	794	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.330357	99.533807	102.392056	37	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78713662	78713662	8378	10	G	T	T	T	455	35	KCNMA1	2	2
POLR3A	11128	broad.mit.edu	37	10	79784817	79784817	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79784817C>A	uc001jzn.2	-	c.402G>T	c.(400-402)CTG>CTT	p.L134L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	134					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.338624	166.033117	170.389435	64	125	KEEP	---	---	---	---	capture		Silent	SNP	79784817	79784817	12656	10	C	A	A	A	366	29	POLR3A	2	2
EXOC6	54536	broad.mit.edu	37	10	94594583	94594583	+	Splice_Site_SNP	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94594583T>C	uc010qnr.1	+	c.149_splice	c.e2+2	p.R50_splice	EXOC6_uc001kie.2_Splice_Site_SNP_p.R29_splice	NM_001013848	NP_001013870			SEC15-like 1 isoform b						protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.416667	144.893247	145.472685	40	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	94594583	94594583	5501	10	T	C	C	C	741	57	EXOC6	5	4
C10orf12	26148	broad.mit.edu	37	10	98741350	98741350	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98741350G>T	uc001kmv.2	+	c.203G>T	c.(202-204)CGC>CTC	p.R68L	C10orf12_uc009xvg.1_Missense_Mutation_p.R378L	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	68											0		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)										0.368421	148.849865	150.869885	49	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98741350	98741350	1624	10	G	T	T	T	494	38	C10orf12	1	1
MMS19	64210	broad.mit.edu	37	10	99258111	99258111	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99258111C>A	uc001kns.3	-	c.31G>T	c.(31-33)GCG>TCG	p.A11S	MMS19_uc001knr.2_5'UTR|MMS19_uc010qox.1_Missense_Mutation_p.A32S|MMS19_uc001knt.2_Missense_Mutation_p.A11S|UBTD1_uc001knv.1_5'Flank	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	11					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)										0.5	15.074585	15.074585	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99258111	99258111	10063	10	C	A	A	A	338	26	MMS19	2	2
SLC37A2	219855	broad.mit.edu	37	11	124946670	124946670	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124946670T>A	uc010sau.1	+	c.77T>A	c.(76-78)CTG>CAG	p.L26Q	SLC37A2_uc001qbn.2_Missense_Mutation_p.L26Q	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	26	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		Melanoma(11;373 620 21213 26083 47768)								0.214286	43.705308	50.036145	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124946670	124946670	15095	11	T	A	A	A	715	55	SLC37A2	3	3
NELL1	4745	broad.mit.edu	37	11	21581884	21581884	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:21581884G>C	uc009yid.2	+	c.2020G>C	c.(2020-2022)GTG>CTG	p.V674L	NELL1_uc001mqe.2_Missense_Mutation_p.V646L|NELL1_uc001mqf.2_Missense_Mutation_p.V599L|NELL1_uc010rdo.1_Missense_Mutation_p.V589L|NELL1_uc010rdp.1_Missense_Mutation_p.V359L|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	646	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.515152	130.853776	130.866962	34	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21581884	21581884	10732	11	G	C	C	C	572	44	NELL1	3	3
OR4A5	81318	broad.mit.edu	37	11	51412242	51412242	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51412242A>G	uc001nhi.1	-	c.154T>C	c.(154-156)TCC>CCC	p.S52P		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		all_lung(304;0.236)												0.155172	20.041787	26.625211	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51412242	51412242	11449	11	A	G	G	G	117	9	OR4A5	4	4
OR4C46	119749	broad.mit.edu	37	11	51515941	51515941	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515941G>C	uc010ric.1	+	c.660G>C	c.(658-660)TTG>TTC	p.L220F		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.213592	62.895716	70.697876	22	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515941	51515941	11458	11	G	C	C	C	620	48	OR4C46	3	3
OR5L1	219437	broad.mit.edu	37	11	55579099	55579099	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579099T>A	uc001nhw.1	+	c.157T>A	c.(157-159)TCT>ACT	p.S53T		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.203822	124.208499	149.800387	64	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579099	55579099	11580	11	T	A	A	A	702	54	OR5L1	3	3
OR1S1	219959	broad.mit.edu	37	11	57982931	57982931	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57982931C>A	uc010rkc.1	+	c.715C>A	c.(715-717)CTG>ATG	p.L239M		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.385965	122.166951	123.46844	44	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57982931	57982931	11378	11	C	A	A	A	311	24	OR1S1	2	2
VWCE	220001	broad.mit.edu	37	11	61042021	61042021	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61042021C>A	uc001nra.2	-	c.1531G>T	c.(1531-1533)GGG>TGG	p.G511W	VWCE_uc001nrb.2_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	511	VWFC 3.					extracellular region	calcium ion binding			ovary(1)	1														0.12037	17.002446	32.267819	13	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61042021	61042021	17816	11	C	A	A	A	299	23	VWCE	1	1
DDB1	1642	broad.mit.edu	37	11	61084007	61084007	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61084007C>A	uc001nrc.3	-	c.1258G>T	c.(1258-1260)GAG>TAG	p.E420*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.E420*|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Nonsense_Mutation_p.E420*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	420	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.21371	110.926533	129.715738	53	195	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61084007	61084007	4494	11	C	A	A	A	377	29	DDB1	5	2
DDB1	1642	broad.mit.edu	37	11	61096852	61096852	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61096852T>C	uc001nrc.3	-	c.532A>G	c.(532-534)ATT>GTT	p.I178V	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.I178V|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.I178V|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	178	Interaction with CDT1.				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														0.236842	107.846302	117.453173	36	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61096852	61096852	4494	11	T	C	C	C	637	49	DDB1	4	4
DDB1	1642	broad.mit.edu	37	11	61099118	61099118	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61099118T>G	uc001nrc.3	-	c.107A>C	c.(106-108)AAC>ACC	p.N36T	DDB1_uc010rle.1_Missense_Mutation_p.N36T|DDB1_uc010rlf.1_Missense_Mutation_p.N36T|DDB1_uc001nrd.2_Missense_Mutation_p.N36T|DDB1_uc009ynl.1_Missense_Mutation_p.N36T|DAK_uc001nre.2_5'Flank	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	36	Interaction with CDT1.				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														0.244681	64.478848	70.061959	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61099118	61099118	4494	11	T	G	G	G	780	60	DDB1	4	4
TCIRG1	10312	broad.mit.edu	37	11	67818087	67818087	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67818087G>A	uc001one.2	+	c.2370G>A	c.(2368-2370)GTG>GTA	p.V790V	TCIRG1_uc001ong.2_Silent_p.V574V|TCIRG1_uc001onh.2_Silent_p.V492V|TCIRG1_uc001oni.2_Silent_p.V294V|TCIRG1_uc009ysd.2_Intron	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	790	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1														0.146341	34.392567	54.113747	24	140	KEEP	---	---	---	---	capture		Silent	SNP	67818087	67818087	16229	11	G	A	A	A	574	45	TCIRG1	2	2
DEAF1	10522	broad.mit.edu	37	11	678763	678763	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:678763C>A	uc001lqq.1	-	c.1186G>T	c.(1186-1188)GGC>TGC	p.G396C	DEAF1_uc009ycf.1_Non-coding_Transcript	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	396	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)										0.616162	203.396243	204.56858	61	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	678763	678763	4551	11	C	A	A	A	299	23	DEAF1	1	1
EPS8L2	64787	broad.mit.edu	37	11	720164	720164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:720164C>T	uc010qwk.1	+	c.268C>T	c.(268-270)CAG>TAG	p.Q90*	EPS8L2_uc010qwj.1_Nonsense_Mutation_p.Q90*|EPS8L2_uc001lqt.2_Nonsense_Mutation_p.Q90*|EPS8L2_uc001lqu.2_Nonsense_Mutation_p.Q90*|EPS8L2_uc001lqv.2_Nonsense_Mutation_p.Q45*|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	90	PID.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.65	83.954355	84.746937	26	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	720164	720164	5389	11	C	T	T	T	273	21	EPS8L2	5	2
USP35	57558	broad.mit.edu	37	11	77921420	77921420	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77921420G>T	uc009yva.1	+	c.2519G>T	c.(2518-2520)GGC>GTC	p.G840V	USP35_uc001oze.2_Missense_Mutation_p.G596V|USP35_uc001ozc.2_Missense_Mutation_p.G408V|USP35_uc010rsp.1_Missense_Mutation_p.G272V|USP35_uc001ozd.2_Missense_Mutation_p.G451V|USP35_uc001ozf.2_Missense_Mutation_p.G571V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	840					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)											0.2	27.64363	33.479756	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77921420	77921420	17630	11	G	T	T	T	546	42	USP35	2	2
FOLH1B	219595	broad.mit.edu	37	11	89402666	89402666	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89402666T>C	uc001pda.2	+	c.90T>C	c.(88-90)TCT>TCC	p.S30S		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	30					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.229508	45.223047	49.310984	14	47	KEEP	---	---	---	---	capture		Silent	SNP	89402666	89402666	6222	11	T	C	C	C	678	53	FOLH1B	4	4
KDM4D	55693	broad.mit.edu	37	11	94731653	94731653	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94731653G>T	uc001pfe.2	+	c.1117G>T	c.(1117-1119)GGC>TGC	p.G373C		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	373					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.444444	45.255606	45.340906	16	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94731653	94731653	8437	11	G	T	T	T	559	43	KDM4D	2	2
CUX2	23316	broad.mit.edu	37	12	111744885	111744885	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111744885G>T	uc001tsa.1	+	c.1019G>T	c.(1018-1020)CGG>CTG	p.R340L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	340	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.642857	53.251819	53.753722	18	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111744885	111744885	4225	12	G	T	T	T	507	39	CUX2	1	1
KNTC1	9735	broad.mit.edu	37	12	123089595	123089595	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123089595A>C	uc001ucv.2	+	c.5347A>C	c.(5347-5349)AAT>CAT	p.N1783H	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1783					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)										0.541667	50.578427	50.614813	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123089595	123089595	8742	12	A	C	C	C	65	5	KNTC1	4	4
KRAS	3845	broad.mit.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25378562C>G	uc001rgp.1	-	c.436G>C	c.(436-438)GCA>CCA	p.A146P	KRAS_uc001rgq.1_Missense_Mutation_p.A146P	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	146			A -> T (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.A146T(42)|p.A146V(4)|p.A146P(3)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	A146T(LS1034_LARGE_INTESTINE)|A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	p.A146T(AMO1-Tumor)|p.A146T(LS1034-Tumor)|p.A146T(SNU81-Tumor)|p.A146T(NUDHL1-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.824074	351.146152	361.838824	89	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25378562	25378562	8753	12	C	G	G	G	364	28	KRAS	3	3
TMTC1	83857	broad.mit.edu	37	12	29920851	29920851	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29920851G>A	uc001rjb.2	-	c.136C>T	c.(136-138)CAT>TAT	p.H46Y	TMTC1_uc001rjc.1_Missense_Mutation_p.H46Y	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	46	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.721311	271.535667	276.903543	88	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29920851	29920851	16801	12	G	A	A	A	624	48	TMTC1	2	2
LRRK2	120892	broad.mit.edu	37	12	40734100	40734100	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40734100C>T	uc001rmg.3	+	c.5953C>T	c.(5953-5955)CTC>TTC	p.L1985F	LRRK2_uc009zjw.2_Missense_Mutation_p.L823F|LRRK2_uc001rmi.2_Missense_Mutation_p.L818F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1985	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.52657	368.281884	368.40857	109	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40734100	40734100	9409	12	C	T	T	T	312	24	LRRK2	2	2
KCNA5	3741	broad.mit.edu	37	12	5155014	5155014	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5155014G>T	uc001qni.2	+	c.1701G>T	c.(1699-1701)GGG>GGT	p.G567G		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	567						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.704225	145.540773	148.178083	50	21	KEEP	---	---	---	---	capture		Silent	SNP	5155014	5155014	8311	12	G	T	T	T	548	43	KCNA5	2	2
SCN8A	6334	broad.mit.edu	37	12	52200403	52200403	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52200403G>T	uc001ryw.2	+	c.5133G>T	c.(5131-5133)CTG>CTT	p.L1711L		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1711	IV.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)									0.851852	357.34613	373.435995	115	20	KEEP	---	---	---	---	capture		Silent	SNP	52200403	52200403	14406	12	G	T	T	T	587	46	SCN8A	2	2
KRT1	3848	broad.mit.edu	37	12	53071243	53071243	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53071243G>T	uc001sau.1	-	c.985C>A	c.(985-987)CAA>AAA	p.Q329K	KRT1_uc001sav.1_Missense_Mutation_p.Q329K	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	329	Rod.|Linker 12.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)	1														0.8	330.78998	342.056462	108	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53071243	53071243	8762	12	G	T	T	T	585	45	KRT1	2	2
AVIL	10677	broad.mit.edu	37	12	58201181	58201181	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58201181C>T	uc001sqj.1	-	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	AVIL_uc009zqe.1_Missense_Mutation_p.R468Q|AVIL_uc001sqk.1_Missense_Mutation_p.R53Q|AVIL_uc001sql.3_Missense_Mutation_p.R452Q	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	475	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)													0.812155	443.473706	460.030946	147	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58201181	58201181	1248	12	C	T	T	T	403	31	AVIL	1	1
MLF2	8079	broad.mit.edu	37	12	6859920	6859920	+	Missense_Mutation	SNP	T	C	C	rs61731916		TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6859920T>C	uc010sfi.1	-	c.229A>G	c.(229-231)ATG>GTG	p.M77V	MLF2_uc001qqp.2_Missense_Mutation_p.M77V|MLF2_uc009zey.1_Missense_Mutation_p.M77V	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	77					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1														0.868421	225.891359	235.915655	66	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6859920	6859920	10006	12	T	C	C	C	663	51	MLF2	4	4
SLC35E3	55508	broad.mit.edu	37	12	69158527	69158527	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69158527G>T	uc001suh.2	+	c.799G>T	c.(799-801)GGA>TGA	p.G267*		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	267	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)											0.592593	207.612093	208.419852	64	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69158527	69158527	15083	12	G	T	T	T	507	39	SLC35E3	5	1
MYF6	4618	broad.mit.edu	37	12	81101730	81101730	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81101730C>T	uc001szf.1	+	c.232C>T	c.(232-234)CTG>TTG	p.L78L		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	78					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(1)	1														0.275	29.606297	31.43084	11	29	KEEP	---	---	---	---	capture		Silent	SNP	81101730	81101730	10423	12	C	T	T	T	415	32	MYF6	2	2
C12orf12	196477	broad.mit.edu	37	12	91348421	91348421	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91348421G>T	uc001tbj.2	-	c.99C>A	c.(97-99)AGC>AGA	p.S33R		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	33										central_nervous_system(1)|pancreas(1)	2														0.5	11.298665	11.298665	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91348421	91348421	1720	12	G	T	T	T	438	34	C12orf12	2	2
A2M	2	broad.mit.edu	37	12	9243990	9243990	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9243990G>T	uc001qvk.1	-	c.2276C>A	c.(2275-2277)CCT>CAT	p.P759H	A2M_uc009zgk.1_Missense_Mutation_p.P609H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	759					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.164062	34.794824	48.516591	21	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9243990	9243990	5	12	G	T	T	T	455	35	A2M	2	2
A2M	2	broad.mit.edu	37	12	9251203	9251203	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9251203C>T	uc001qvk.1	-	c.1851G>A	c.(1849-1851)TCG>TCA	p.S617S	A2M_uc009zgk.1_Silent_p.S467S	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	617					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.833333	33.654775	34.917724	10	2	KEEP	---	---	---	---	capture		Silent	SNP	9251203	9251203	5	12	C	T	T	T	288	23	A2M	1	1
PZP	5858	broad.mit.edu	37	12	9317928	9317928	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9317928G>T	uc001qvl.2	-	c.2294C>A	c.(2293-2295)CCT>CAT	p.P765H	PZP_uc009zgl.2_Missense_Mutation_p.P634H|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.P97H	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.735294	143.791737	147.255117	50	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9317928	9317928	13327	12	G	T	T	T	455	35	PZP	2	2
MYO16	23026	broad.mit.edu	37	13	109475528	109475528	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109475528G>T	uc010agk.1	+	c.999G>T	c.(997-999)TGG>TGT	p.W333C	MYO16_uc001vqt.1_Missense_Mutation_p.W311C|MYO16_uc001vqu.1_Missense_Mutation_p.W111C	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	311					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.240964	91.405477	101.578037	40	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109475528	109475528	10459	13	G	T	T	T	559	43	MYO16	2	2
COL4A1	1282	broad.mit.edu	37	13	110827079	110827079	+	Silent	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110827079C>G	uc001vqw.3	-	c.3216G>C	c.(3214-3216)GCG>GCC	p.A1072A	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1072	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.356618	288.074779	292.967134	97	175	KEEP	---	---	---	---	capture		Silent	SNP	110827079	110827079	3827	13	C	G	G	G	288	23	COL4A1	3	3
MCF2L	23263	broad.mit.edu	37	13	113732728	113732728	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113732728G>T	uc001vsu.2	+	c.1883G>T	c.(1882-1884)AGA>ATA	p.R628I	MCF2L_uc001vsq.2_Missense_Mutation_p.R628I|MCF2L_uc010tjr.1_Missense_Mutation_p.R571I|MCF2L_uc001vsr.2_Missense_Mutation_p.R575I|MCF2L_uc001vss.3_Missense_Mutation_p.R569I|MCF2L_uc010tjs.1_Missense_Mutation_p.R569I|MCF2L_uc001vst.1_Missense_Mutation_p.R533I	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	601					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)												0.16129	7.753012	11.139674	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113732728	113732728	9768	13	G	T	T	T	429	33	MCF2L	2	2
DCLK1	9201	broad.mit.edu	37	13	36401830	36401830	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36401830A>G	uc001uvf.2	-	c.1349T>C	c.(1348-1350)CTT>CCT	p.L450P	DCLK1_uc001uve.3_Missense_Mutation_p.L143P|DCLK1_uc010teh.1_Missense_Mutation_p.L143P|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	450	Protein kinase.				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				0.216561	97.542881	109.204191	34	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36401830	36401830	4462	13	A	G	G	G	39	3	DCLK1	4	4
TRPC4	7223	broad.mit.edu	37	13	38357161	38357161	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38357161T>A	uc010abx.2	-	c.310A>T	c.(310-312)ATC>TTC	p.I104F	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.I104F|TRPC4_uc001uws.2_Missense_Mutation_p.I104F|TRPC4_uc010tey.1_Missense_Mutation_p.I104F|TRPC4_uc010abw.2_Missense_Mutation_p.I104F|TRPC4_uc010aby.2_Missense_Mutation_p.I104F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	104	ANK 3.|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)										0.157303	25.596823	35.564304	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38357161	38357161	17131	13	T	A	A	A	637	49	TRPC4	3	3
ENOX1	55068	broad.mit.edu	37	13	43935496	43935496	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43935496G>T	uc001uza.3	-	c.301C>A	c.(301-303)CCT>ACT	p.P101T	ENOX1_uc001uzb.3_Missense_Mutation_p.P101T|ENOX1_uc001uzc.3_Missense_Mutation_p.P101T|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	101	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)	1		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)										0.445312	171.387549	171.714358	57	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43935496	43935496	5319	13	G	T	T	T	572	44	ENOX1	2	2
GPC5	2262	broad.mit.edu	37	13	92345504	92345504	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92345504A>G	uc010tif.1	+	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	130						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.198413	72.311085	82.972253	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92345504	92345504	6875	13	A	G	G	G	182	14	GPC5	4	4
ABCC4	10257	broad.mit.edu	37	13	95899972	95899972	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95899972C>T	uc001vmd.3	-	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	ABCC4_uc010afk.2_Missense_Mutation_p.R37Q|ABCC4_uc001vme.2_Missense_Mutation_p.R37Q|ABCC4_uc010tih.1_Missense_Mutation_p.R37Q|ABCC4_uc001vmf.2_5'UTR|ABCC4_uc010afl.1_5'UTR|ABCC4_uc010afm.1_Missense_Mutation_p.R50Q	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	37					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.438776	127.107401	127.427905	43	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95899972	95899972	56	13	C	T	T	T	299	23	ABCC4	1	1
MYH6	4624	broad.mit.edu	37	14	23863354	23863354	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23863354C>A	uc001wjv.2	-	c.2608G>T	c.(2608-2610)GCT>TCT	p.A870S		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	870	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)										0.346154	113.618485	116.296695	45	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23863354	23863354	10433	14	C	A	A	A	338	26	MYH6	2	2
C14orf106	55320	broad.mit.edu	37	14	45716193	45716193	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45716193C>A	uc001wwf.2	-	c.297G>T	c.(295-297)AAG>AAT	p.K99N	C14orf106_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	99					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						Ovarian(187;620 2054 7273 12043 20532)								0.418033	139.18571	139.905013	51	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45716193	45716193	1786	14	C	A	A	A	311	24	C14orf106	2	2
PPIL5	122769	broad.mit.edu	37	14	50074328	50074328	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50074328G>A	uc001wwn.2	+	c.493G>A	c.(493-495)GGG>AGG	p.G165R	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.G106R|PPIL5_uc001wwp.2_Non-coding_Transcript	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	165	LRR 1.										0	all_epithelial(31;0.0021)|Breast(41;0.0124)													0.188679	38.728502	48.352362	20	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50074328	50074328	12765	14	G	A	A	A	611	47	PPIL5	2	2
RHOJ	57381	broad.mit.edu	37	14	63747808	63747808	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63747808C>A	uc001xgb.1	+	c.357C>A	c.(355-357)CTC>CTA	p.L119L		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	119					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)										0.208333	41.742764	49.310868	20	76	KEEP	---	---	---	---	capture		Silent	SNP	63747808	63747808	13816	14	C	A	A	A	366	29	RHOJ	2	2
MAP3K9	4293	broad.mit.edu	37	14	71197546	71197546	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71197546C>A	uc001xml.2	-	c.2908G>T	c.(2908-2910)GGT>TGT	p.G970C	MAP3K9_uc010ttk.1_Missense_Mutation_p.G684C|MAP3K9_uc001xmk.2_Missense_Mutation_p.G689C|MAP3K9_uc001xmm.2_Missense_Mutation_p.G956C	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	956	Pro-rich.				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				0.327586	48.295729	49.829681	19	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71197546	71197546	9640	14	C	A	A	A	312	24	MAP3K9	2	2
LTBP2	4053	broad.mit.edu	37	14	75019619	75019619	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75019619C>A	uc001xqa.2	-	c.1168G>T	c.(1168-1170)GAT>TAT	p.D390Y		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	390					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.52	35.97355	35.982224	13	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75019619	75019619	9450	14	C	A	A	A	403	31	LTBP2	1	1
DIO2	1734	broad.mit.edu	37	14	80669424	80669424	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80669424G>T	uc010tvp.1	-	c.538C>A	c.(538-540)CGC>AGC	p.R180S	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvq.1_Missense_Mutation_p.R144S|DIO2_uc010tvr.1_Missense_Mutation_p.R144S|DIO2_uc010asy.2_3'UTR	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	144					hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)								OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4	58.302589	58.735492	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80669424	80669424	4704	14	G	T	T	T	507	39	DIO2	1	1
C14orf102	55051	broad.mit.edu	37	14	90782973	90782973	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90782973T>A	uc001xyi.1	-	c.356A>T	c.(355-357)GAC>GTC	p.D119V	C14orf102_uc001xyj.1_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	119	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)										0.247312	157.443757	173.656768	69	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90782973	90782973	1783	14	T	A	A	A	754	58	C14orf102	3	3
KIAA1409	57578	broad.mit.edu	37	14	94067067	94067067	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94067067G>A	uc001ybv.1	+	c.2994G>A	c.(2992-2994)TTG>TTA	p.L998L	KIAA1409_uc001ybs.1_Silent_p.L998L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1175						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.4375	65.46644	65.630191	21	27	KEEP	---	---	---	---	capture		Silent	SNP	94067067	94067067	8539	14	G	A	A	A	607	47	KIAA1409	2	2
SERPINA11	256394	broad.mit.edu	37	14	94914915	94914915	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94914915G>A	uc001ydd.1	-	c.197C>T	c.(196-198)GCA>GTA	p.A66V		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	66					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)										0.228739	163.269719	186.29478	78	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94914915	94914915	14576	14	G	A	A	A	598	46	SERPINA11	2	2
C14orf49	161176	broad.mit.edu	37	14	95921952	95921952	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95921952C>G	uc001yei.3	-	c.899G>C	c.(898-900)GGA>GCA	p.G300A	C14orf49_uc010avi.2_Missense_Mutation_p.G300A|C14orf49_uc001yej.1_Missense_Mutation_p.G300A	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	300	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)										0.147482	91.895623	125.148757	41	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95921952	95921952	1826	14	C	G	G	G	390	30	C14orf49	3	3
C15orf55	256646	broad.mit.edu	37	15	34648661	34648661	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34648661G>A	uc010ucc.1	+	c.2452G>A	c.(2452-2454)GGC>AGC	p.G818S	C15orf55_uc010ucd.1_Missense_Mutation_p.G808S|C15orf55_uc001zif.2_Missense_Mutation_p.G790S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	790						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.288288	91.959034	96.417115	32	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34648661	34648661	1853	15	G	A	A	A	455	35	C15orf55	2	2
BUB1B	701	broad.mit.edu	37	15	40462863	40462863	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40462863T>A	uc001zkx.3	+	c.365T>A	c.(364-366)CTC>CAC	p.L122H		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	122	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|protein phosphorylation|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)						298				0.156627	20.41772	29.763217	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40462863	40462863	1605	15	T	A	A	A	702	54	BUB1B	3	3
MGA	23269	broad.mit.edu	37	15	42058761	42058761	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42058761C>T	uc010ucy.1	+	c.8481C>T	c.(8479-8481)CTC>CTT	p.L2827L	MGA_uc010ucz.1_Silent_p.L2618L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2788	Potential.				regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.124294	26.51693	50.950758	22	155	KEEP	---	---	---	---	capture		Silent	SNP	42058761	42058761	9930	15	C	T	T	T	366	29	MGA	2	2
SEMA6D	80031	broad.mit.edu	37	15	48063496	48063497	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48063496_48063497GG>TT	uc010bek.2	+	c.2736_2737GG>TT	c.(2734-2739)ATGGGA>ATTTGA	p.912_913MG>I*	SEMA6D_uc001zvw.2_Nonsense_Mutation_p.850_851MG>I*|SEMA6D_uc001zvy.2_Nonsense_Mutation_p.912_913MG>I*|SEMA6D_uc001zvz.2_Nonsense_Mutation_p.856_857MG>I*|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Nonsense_Mutation_p.850_851MG>I*|SEMA6D_uc001zwc.2_Nonsense_Mutation_p.837_838MG>I*	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	912_913	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.293269	160.570492	168.542755	61	147	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	48063496	48063497	14528	15	GG	TT	TT	TT	611	47	SEMA6D	5	2
COPS2	9318	broad.mit.edu	37	15	49431798	49431798	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49431798C>A	uc001zxh.2	-	c.299G>T	c.(298-300)CGG>CTG	p.R100L	COPS2_uc001zxf.2_Missense_Mutation_p.R100L|COPS2_uc010ufa.1_Missense_Mutation_p.R36L	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	100					transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)								0.377193	126.496115	128.00535	43	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49431798	49431798	3871	15	C	A	A	A	299	23	COPS2	1	1
CILP	8483	broad.mit.edu	37	15	65499138	65499138	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65499138G>A	uc002aon.2	-	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	136					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)	6														0.177489	70.380044	92.989928	41	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65499138	65499138	3563	15	G	A	A	A	520	40	CILP	1	1
CLN6	54982	broad.mit.edu	37	15	68500662	68500662	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68500662T>C	uc010ujz.1	-	c.848A>G	c.(847-849)AAG>AGG	p.K283R	CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc002arf.2_Missense_Mutation_p.K251R|CLN6_uc010ujy.1_Missense_Mutation_p.K122R	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	251					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0														0.173469	89.553653	109.261626	34	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68500662	68500662	3683	15	T	C	C	C	728	56	CLN6	4	4
MORF4L1	10933	broad.mit.edu	37	15	79177320	79177320	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79177320G>T	uc002bel.2	+	c.167G>T	c.(166-168)AGG>ATG	p.R56M	MORF4L1_uc010bli.1_Intron|MORF4L1_uc010blj.1_Intron|MORF4L1_uc002bem.2_Intron|MORF4L1_uc010une.1_Intron	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	56	Interaction with MYST1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0														0.356322	84.194909	85.779517	31	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79177320	79177320	10097	15	G	T	T	T	455	35	MORF4L1	2	2
NTRK3	4916	broad.mit.edu	37	15	88669516	88669516	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88669516T>C	uc002bme.1	-	c.1382A>G	c.(1381-1383)AAA>AGA	p.K461R	NTRK3_uc002bmh.2_Missense_Mutation_p.K453R|NTRK3_uc002bmf.1_Missense_Mutation_p.K461R|NTRK3_uc010upl.1_Missense_Mutation_p.K363R|NTRK3_uc010bnh.1_Missense_Mutation_p.K453R|NTRK3_uc002bmg.2_Missense_Mutation_p.K461R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	461	Cytoplasmic (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)			0.275	70.747204	74.374413	22	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88669516	88669516	11113	15	T	C	C	C	832	64	NTRK3	4	4
TPSB2	64499	broad.mit.edu	37	16	1278756	1278756	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1278756A>T	uc002cky.2	-	c.722T>A	c.(721-723)GTG>GAG	p.V241E	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.2_Missense_Mutation_p.V89E	NM_024164	NP_077078	P20231	TRYB2_HUMAN	tryptase beta 2 precursor	241	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.777778	39.753148	41.032555	14	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1278756	1278756	16968	16	A	T	T	T	78	6	TPSB2	3	3
ITGAX	3687	broad.mit.edu	37	16	31368684	31368684	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31368684G>T	uc002ebt.2	+	c.429G>T	c.(427-429)CAG>CAT	p.Q143H	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Missense_Mutation_p.Q143H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	143	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.75	27.076813	27.756986	9	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31368684	31368684	8193	16	G	T	T	T	451	35	ITGAX	2	2
RBL2	5934	broad.mit.edu	37	16	53503961	53503961	+	Silent	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53503961A>G	uc002ehi.3	+	c.2109A>G	c.(2107-2109)CTA>CTG	p.L703L	RBL2_uc010vgv.1_Silent_p.L629L|RBL2_uc002ehj.2_Silent_p.L413L|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	703	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)	4										265				0.210526	46.559862	52.448655	16	60	KEEP	---	---	---	---	capture		Silent	SNP	53503961	53503961	13571	16	A	G	G	G	184	15	RBL2	4	4
MT1G	4495	broad.mit.edu	37	16	56701272	56701272	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56701272C>A	uc002eju.1	-	c.46G>T	c.(46-48)GCC>TCC	p.A16S	MT1G_uc002ejv.1_Non-coding_Transcript|MT1H_uc002ejw.2_5'Flank	NM_005950	NP_005941	P13640	MT1G_HUMAN	metallothionein 1G	17	Beta.						metal ion binding|protein binding				0														0.2	30.589717	36.88306	15	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56701272	56701272	10294	16	C	A	A	A	351	27	MT1G	1	1
CDH8	1006	broad.mit.edu	37	16	61687553	61687553	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61687553C>A	uc002eog.1	-	c.2359G>T	c.(2359-2361)GGC>TGC	p.G787C		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	787	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.469027	152.256485	152.351484	53	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61687553	61687553	3245	16	C	A	A	A	286	22	CDH8	2	2
CDH8	1006	broad.mit.edu	37	16	61854977	61854977	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61854977G>T	uc002eog.1	-	c.876C>A	c.(874-876)GGC>GGA	p.G292G	CDH8_uc002eoh.2_Silent_p.G61G	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	292	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.192771	31.141641	38.470793	16	67	KEEP	---	---	---	---	capture		Silent	SNP	61854977	61854977	3245	16	G	T	T	T	587	46	CDH8	2	2
MSLN	10232	broad.mit.edu	37	16	814687	814687	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:814687A>T	uc002cjw.1	+	c.341A>T	c.(340-342)GAC>GTC	p.D114V	MSLN_uc002cjt.1_Missense_Mutation_p.D114V|MSLN_uc002cju.1_Missense_Mutation_p.D114V|MSLN_uc010brd.1_Missense_Mutation_p.D113V|MSLN_uc002cjv.1_Missense_Mutation_p.D114V|MSLN_uc002cjx.1_Missense_Mutation_p.D114V|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	114					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.592179	316.088259	317.431788	106	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	814687	814687	10274	16	A	T	T	T	130	10	MSLN	3	3
MYH2	4620	broad.mit.edu	37	17	10439914	10439914	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10439914C>T	uc010coi.2	-	c.1907G>A	c.(1906-1908)GGT>GAT	p.G636D	MYH2_uc002gmp.3_Missense_Mutation_p.G636D|MYH2_uc010coj.2_Missense_Mutation_p.G636D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	636	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(5)|pancreas(4)|lung(1)|kidney(1)	11														0.681818	48.02803	48.672984	15	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10439914	10439914	10430	17	C	T	T	T	234	18	MYH2	2	2
UTP6	55813	broad.mit.edu	37	17	30192423	30192423	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30192423T>A	uc002hgr.2	-	c.1598A>T	c.(1597-1599)TAT>TTT	p.Y533F	UTP6_uc002hgq.2_Missense_Mutation_p.Y349F|UTP6_uc010cst.2_Missense_Mutation_p.Y382F	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	533	HAT 5.				rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)												0.474747	150.420711	150.475247	47	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30192423	30192423	17667	17	T	A	A	A	637	49	UTP6	3	3
OR3A2	4995	broad.mit.edu	37	17	3181334	3181334	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3181334T>C	uc002fvg.2	-	c.896A>G	c.(895-897)TAC>TGC	p.Y299C		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	299	Helical; Name=7; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)								0.630952	207.604708	208.874808	53	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3181334	3181334	11444	17	T	C	C	C	741	57	OR3A2	4	4
THRA	7067	broad.mit.edu	37	17	38245466	38245466	+	Silent	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38245466G>C	uc002htw.2	+	c.990G>C	c.(988-990)TCG>TCC	p.S330S	THRA_uc010cwp.1_Silent_p.S330S|THRA_uc002htv.2_Silent_p.S330S|THRA_uc002htx.2_Silent_p.S330S	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	330	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	promoter binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription initiation factor antagonist activity|transcription repressor activity|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)									0.225	74.480037	82.806242	27	93	KEEP	---	---	---	---	capture		Silent	SNP	38245466	38245466	16401	17	G	C	C	C	496	39	THRA	3	3
TOP2A	7153	broad.mit.edu	37	17	38552628	38552628	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38552628T>G	uc002huq.2	-	c.3627A>C	c.(3625-3627)GAA>GAC	p.E1209D		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	1209					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)					636				0.182927	28.069238	35.819376	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38552628	38552628	16907	17	T	G	G	G	725	56	TOP2A	4	4
KRT13	3860	broad.mit.edu	37	17	39661336	39661336	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39661336T>C	uc002hwu.1	-	c.467A>G	c.(466-468)TAC>TGC	p.Y156C	KRT13_uc002hwv.1_Missense_Mutation_p.Y156C|KRT13_uc002hww.2_Missense_Mutation_p.Y49C|KRT13_uc010wfr.1_Missense_Mutation_p.Y49C|KRT13_uc010cxo.2_Missense_Mutation_p.Y156C|KRT13_uc002hwx.1_Missense_Mutation_p.Y144C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	156	Linker 1.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|pancreas(1)	3		Breast(137;0.000286)												0.146341	26.656722	36.503496	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39661336	39661336	8765	17	T	C	C	C	741	57	KRT13	4	4
SLC4A1	6521	broad.mit.edu	37	17	42336630	42336630	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42336630C>A	uc002igf.3	-	c.777G>T	c.(775-777)CCG>CCT	p.P259P	SLC4A1_uc002igg.3_Silent_p.P259P	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	259	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)										0.302326	33.459221	34.959525	13	30	KEEP	---	---	---	---	capture		Silent	SNP	42336630	42336630	15147	17	C	A	A	A	288	23	SLC4A1	1	1
ITGA2B	3674	broad.mit.edu	37	17	42457495	42457495	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42457495G>A	uc002igt.1	-	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	ITGA2B_uc002igu.1_Missense_Mutation_p.R24W	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	543	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)									0.388889	32.809296	33.207996	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42457495	42457495	8180	17	G	A	A	A	506	39	ITGA2B	1	1
MYBBP1A	10514	broad.mit.edu	37	17	4451462	4451462	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4451462G>A	uc002fxz.3	-	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	MYBBP1A_uc002fyb.3_Missense_Mutation_p.A567V	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	567	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.581395	75.175354	75.423039	25	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4451462	4451462	10403	17	G	A	A	A	494	38	MYBBP1A	1	1
SPATA20	64847	broad.mit.edu	37	17	48628452	48628452	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48628452G>T	uc002ird.2	+	c.1477G>T	c.(1477-1479)GTG>TTG	p.V493L	SPATA20_uc002irc.2_Missense_Mutation_p.V144L|SPATA20_uc002ire.2_Missense_Mutation_p.V433L|SPATA20_uc002irf.2_Missense_Mutation_p.V477L|SPATA20_uc002irg.2_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	477					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)									OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.159091	13.406832	18.271718	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48628452	48628452	15514	17	G	T	T	T	520	40	SPATA20	1	1
WSCD1	23302	broad.mit.edu	37	17	5993695	5993695	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5993695G>T	uc010cli.2	+	c.597G>T	c.(595-597)CGG>CGT	p.R199R	WSCD1_uc002gcn.2_Silent_p.R199R|WSCD1_uc002gco.2_Silent_p.R199R|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	199	WSC 1.					integral to membrane	sulfotransferase activity				0														0.596154	85.29777	85.712532	31	21	KEEP	---	---	---	---	capture		Silent	SNP	5993695	5993695	17980	17	G	T	T	T	535	42	WSCD1	2	2
MRC2	9902	broad.mit.edu	37	17	60767343	60767343	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60767343C>T	uc002jad.2	+	c.3662C>T	c.(3661-3663)ACC>ATC	p.T1221I	MRC2_uc002jae.2_Missense_Mutation_p.T292I|MRC2_uc002jaf.2_Missense_Mutation_p.T87I	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1221	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.285714	19.7892	20.942611	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60767343	60767343	10150	17	C	T	T	T	234	18	MRC2	2	2
KCNH6	81033	broad.mit.edu	37	17	61613303	61613303	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61613303G>T	uc002jay.2	+	c.1375G>T	c.(1375-1377)GTG>TTG	p.V459L	KCNH6_uc002jax.1_Missense_Mutation_p.V459L|KCNH6_uc010wpl.1_Missense_Mutation_p.V336L|KCNH6_uc010wpm.1_Missense_Mutation_p.V459L|KCNH6_uc002jaz.1_Intron	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	459	Extracellular (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.439024	53.287435	53.411018	18	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61613303	61613303	8341	17	G	T	T	T	572	44	KCNH6	2	2
PITPNM3	83394	broad.mit.edu	37	17	6386989	6386989	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6386989C>T	uc002gdd.3	-	c.435G>A	c.(433-435)GGG>GGA	p.G145G	PITPNM3_uc010cln.2_Silent_p.G109G|PITPNM3_uc002gdc.3_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	145					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)										0.639344	120.416465	121.454688	39	22	KEEP	---	---	---	---	capture		Silent	SNP	6386989	6386989	12376	17	C	T	T	T	275	22	PITPNM3	2	2
KCNJ16	3773	broad.mit.edu	37	17	68128830	68128830	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128830G>T	uc002jiq.2	+	c.698G>T	c.(697-699)TGG>TTG	p.W233L	KCNJ16_uc002jin.2_Missense_Mutation_p.W201L|KCNJ16_uc002jio.2_Missense_Mutation_p.W201L|KCNJ16_uc002jip.2_Missense_Mutation_p.W201L	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	201	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.438776	123.504848	123.826063	43	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68128830	68128830	8355	17	G	T	T	T	611	47	KCNJ16	2	2
TRIM65	201292	broad.mit.edu	37	17	73887249	73887249	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73887249G>A	uc002jpx.2	-	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	389	B30.2/SPRY.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.290323	58.17459	61.848303	27	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73887249	73887249	17087	17	G	A	A	A	494	38	TRIM65	1	1
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site_SNP	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577610T>C	uc002gim.2	-	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gih.2_Splice_Site_SNP_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cng.1_Splice_Site_SNP_p.V93_splice|TP53_uc002gii.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cnh.1_Splice_Site_SNP_p.V225_splice|TP53_uc010cni.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gij.2_Splice_Site_SNP_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	NM_001126112	NP_001119584			tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(6)|p.V225fs*24(1)|p.E224_V225insXX(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	(MHHES1-Tumor)|(TF1-Tumor)|(NCIH1092-Tumor)|(HCC1599-Tumor)|(NCIH209-Tumor)|(OCIM1-Tumor)|(KYSE30-Tumor)|(NCIH1650-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.604167	113.590119	114.047913	29	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7577610	7577610	16923	17	T	C	C	C	689	53	TP53	5	4
ENGASE	64772	broad.mit.edu	37	17	77082391	77082391	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77082391A>T	uc002jwv.2	+	c.2192A>T	c.(2191-2193)GAG>GTG	p.E731V	ENGASE_uc002jww.2_Missense_Mutation_p.E436V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	731						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity				0														0.383562	71.675221	72.544782	28	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77082391	77082391	5311	17	A	T	T	T	143	11	ENGASE	3	3
SLC26A11	284129	broad.mit.edu	37	17	78219001	78219001	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78219001C>A	uc002jyb.1	+	c.1043C>A	c.(1042-1044)ACC>AAC	p.T348N	SLC26A11_uc002jyc.1_Missense_Mutation_p.T348N|SLC26A11_uc002jyd.1_Missense_Mutation_p.T348N|SLC26A11_uc010dhv.1_Missense_Mutation_p.T348N	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	348	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)											0.47619	94.547566	94.578421	30	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78219001	78219001	15013	17	C	A	A	A	234	18	SLC26A11	2	2
C17orf56	146705	broad.mit.edu	37	17	79202733	79202733	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79202733C>A	uc002jzu.1	-	c.1573G>T	c.(1573-1575)GCC>TCC	p.A525S	C17orf56_uc002jzr.1_Missense_Mutation_p.A195S|C17orf56_uc002jzs.1_Missense_Mutation_p.A441S|C17orf56_uc002jzt.1_Missense_Mutation_p.A441S|C17orf56_uc002jzv.1_Missense_Mutation_p.A373S	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	525						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)											0.3125	25.442442	26.441821	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79202733	79202733	1921	17	C	A	A	A	351	27	C17orf56	1	1
MC5R	4161	broad.mit.edu	37	18	13826676	13826676	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13826676G>T	uc010xaf.1	+	c.912G>T	c.(910-912)AAG>AAT	p.K304N		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	304	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.433962	122.637362	123.038341	46	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13826676	13826676	9756	18	G	T	T	T	425	33	MC5R	2	2
DSG4	147409	broad.mit.edu	37	18	28993427	28993427	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28993427G>C	uc002kwr.2	+	c.3049G>C	c.(3049-3051)GGG>CGG	p.G1017R	DSG4_uc002kwq.2_Missense_Mutation_p.G998R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	998	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.558559	209.055449	209.38594	62	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28993427	28993427	4963	18	G	C	C	C	455	35	DSG4	3	3
DSG3	1830	broad.mit.edu	37	18	29027857	29027857	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29027857C>A	uc002kws.2	+	c.17C>A	c.(16-18)CCC>CAC	p.P6H		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	6					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)											0.545455	34.929488	34.974644	12	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29027857	29027857	4962	18	C	A	A	A	286	22	DSG3	2	2
KLHL14	57565	broad.mit.edu	37	18	30275470	30275470	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30275470T>G	uc002kxm.1	-	c.1115A>C	c.(1114-1116)AAC>ACC	p.N372T	KLHL14_uc010dmd.1_5'UTR	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	372	Kelch 1.									ovary(1)	1														0.444444	56.825004	56.91613	16	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30275470	30275470	8682	18	T	G	G	G	780	60	KLHL14	4	4
ST8SIA5	29906	broad.mit.edu	37	18	44260213	44260213	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44260213G>T	uc010xcy.1	-	c.1031C>A	c.(1030-1032)GCG>GAG	p.A344E	ST8SIA5_uc002lci.1_Missense_Mutation_p.A155E|ST8SIA5_uc002lcj.1_Missense_Mutation_p.A308E|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A277E	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	308	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				ovary(1)|pancreas(1)	2														0.423077	96.056977	96.460716	33	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44260213	44260213	15753	18	G	T	T	T	494	38	ST8SIA5	1	1
MYO5B	4645	broad.mit.edu	37	18	47527658	47527658	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47527658T>G	uc002leb.2	-	c.579A>C	c.(577-579)GAA>GAC	p.E193D	MYO5B_uc002lec.1_Missense_Mutation_p.E192D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	193	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(1)	1				READ - Rectum adenocarcinoma(32;0.103)										0.375	65.475121	66.356076	24	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47527658	47527658	10474	18	T	G	G	G	725	56	MYO5B	4	4
KIAA0802	23255	broad.mit.edu	37	18	8784097	8784097	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8784097G>T	uc002knr.2	+	c.987G>T	c.(985-987)GGG>GGT	p.G329G	KIAA0802_uc002knq.2_Silent_p.G329G|KIAA0802_uc010dkw.1_Silent_p.G167G	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	680	Potential.									ovary(6)|central_nervous_system(1)	7										468				0.333333	68.923189	70.903391	27	54	KEEP	---	---	---	---	capture		Silent	SNP	8784097	8784097	8501	18	G	T	T	T	548	43	KIAA0802	2	2
KEAP1	9817	broad.mit.edu	37	19	10610343	10610343	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610343C>A	uc002moq.1	-	c.367G>T	c.(367-369)GTG>TTG	p.V123L	KEAP1_uc002mor.1_Missense_Mutation_p.V123L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.583333	67.779896	67.998326	21	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10610343	10610343	8447	19	C	A	A	A	234	18	KEAP1	2	2
STK11	6794	broad.mit.edu	37	19	1221228	1221228	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1221228G>C	uc002lrl.1	+	c.751G>C	c.(751-753)GGT>CGT	p.G251R		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	251	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.Y246fs*3(1)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.714286	48.131823	48.997153	15	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1221228	1221228	15807	19	G	C	C	C	559	43	STK11	3	3
CIB3	117286	broad.mit.edu	37	19	16275587	16275587	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16275587C>T	uc002nds.2	-	c.484G>A	c.(484-486)GGG>AGG	p.G162R	CIB3_uc010eae.2_Missense_Mutation_p.G101R|CIB3_uc010eaf.2_Non-coding_Transcript|CIB3_uc010eag.2_Missense_Mutation_p.G113R	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	162	EF-hand 3.|2 (Potential).						calcium ion binding			ovary(1)	1														0.607143	112.855312	113.416586	34	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16275587	16275587	3556	19	C	T	T	T	273	21	CIB3	2	2
ZNF492	57615	broad.mit.edu	37	19	22846654	22846654	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22846654T>A	uc002nqw.3	+	c.183T>A	c.(181-183)AAT>AAA	p.N61K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.8125	44.884395	46.347736	13	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22846654	22846654	18537	19	T	A	A	A	673	52	ZNF492	3	3
NPHS1	4868	broad.mit.edu	37	19	36340263	36340263	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36340263G>T	uc002oby.2	-	c.715C>A	c.(715-717)CCT>ACT	p.P239T		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	239	Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.636364	40.450986	40.81014	14	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36340263	36340263	10986	19	G	T	T	T	559	43	NPHS1	2	2
GRIK5	2901	broad.mit.edu	37	19	42525511	42525511	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42525511G>T	uc002osj.1	-	c.1813C>A	c.(1813-1815)CAG>AAG	p.Q605K	GRIK5_uc002osi.1_Missense_Mutation_p.Q177K|GRIK5_uc010eib.1_Missense_Mutation_p.Q524K	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	605	Cytoplasmic (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.388889	19.620875	19.815543	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42525511	42525511	7056	19	G	T	T	T	598	46	GRIK5	2	2
SCAF1	58506	broad.mit.edu	37	19	50148669	50148669	+	Splice_Site_SNP	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50148669G>A	uc002poq.2	+	c.166_splice	c.e3+1	p.D56_splice		NM_021228	NP_067051			SR-related CTD-associated factor 1						mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)										0.516854	133.751778	133.774048	46	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	50148669	50148669	14349	19	G	A	A	A	572	44	SCAF1	5	2
SIGLEC10	89790	broad.mit.edu	37	19	51918829	51918829	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51918829G>T	uc002pwo.2	-	c.1065C>A	c.(1063-1065)AAC>AAA	p.N355K	SIGLEC10_uc002pwp.2_Missense_Mutation_p.N297K|SIGLEC10_uc002pwq.2_Missense_Mutation_p.N297K|SIGLEC10_uc002pwr.2_Missense_Mutation_p.N355K|SIGLEC10_uc010ycy.1_Missense_Mutation_p.N265K|SIGLEC10_uc010ycz.1_Missense_Mutation_p.N307K|SIGLEC10_uc010eow.2_Missense_Mutation_p.N167K|SIGLEC10_uc002pws.1_Missense_Mutation_p.N191K	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	355	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.620087	466.287521	469.1817	142	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51918829	51918829	14801	19	G	T	T	T	620	48	SIGLEC10	2	2
C19orf51	352909	broad.mit.edu	37	19	55671280	55671280	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55671280A>G	uc002qjl.1	-	c.1351T>C	c.(1351-1353)TAT>CAT	p.Y451H	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.Y199H|C19orf51_uc002qji.1_Missense_Mutation_p.Y384H|C19orf51_uc002qjj.1_Missense_Mutation_p.Y431H|C19orf51_uc002qjk.1_Missense_Mutation_p.Y330H	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	hypothetical protein LOC352909	384											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)										0.571429	117.910994	118.160853	32	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55671280	55671280	1997	19	A	G	G	G	195	15	C19orf51	4	4
ZNF582	147948	broad.mit.edu	37	19	56895924	56895924	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56895924A>T	uc002qmy.2	-	c.955T>A	c.(955-957)TGT>AGT	p.C319S	ZNF582_uc002qmz.1_Missense_Mutation_p.C288S	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	288	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		Ovarian(183;1887 2032 4349 30507 51343)								0.48	79.90385	79.9208	24	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56895924	56895924	18609	19	A	T	T	T	104	8	ZNF582	3	3
ZNF264	9422	broad.mit.edu	37	19	57723654	57723654	+	Nonsense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57723654A>T	uc002qob.2	+	c.1189A>T	c.(1189-1191)AAG>TAG	p.K397*		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)										0.508475	82.542308	82.545879	30	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57723654	57723654	18396	19	A	T	T	T	117	9	ZNF264	5	3
MED16	10025	broad.mit.edu	37	19	881704	881704	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:881704T>C	uc002lqd.1	-	c.996A>G	c.(994-996)AAA>AAG	p.K332K	MED16_uc010drw.1_Silent_p.K157K|MED16_uc002lqe.2_Silent_p.K321K|MED16_uc002lqf.2_Silent_p.K321K|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Silent_p.K321K|MED16_uc010xfx.1_Silent_p.K177K|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	332					androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|transcription activator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)										0.590476	240.16905	240.92062	62	43	KEEP	---	---	---	---	capture		Silent	SNP	881704	881704	9823	19	T	C	C	C	777	60	MED16	4	4
MUC16	94025	broad.mit.edu	37	19	9076248	9076248	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9076248A>T	uc002mkp.2	-	c.11198T>A	c.(11197-11199)CTG>CAG	p.L3733Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3734	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.491228	173.594992	173.602634	56	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9076248	9076248	10367	19	A	T	T	T	91	7	MUC16	3	3
PLEKHO1	51177	broad.mit.edu	37	1	150131409	150131409	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150131409G>A	uc001ett.2	+	c.921G>A	c.(919-921)CGG>CGA	p.R307R	PLEKHO1_uc001etr.2_Silent_p.R135R|PLEKHO1_uc001ets.2_Silent_p.R124R|PLEKHO1_uc001etu.2_Silent_p.R135R	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	307	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.343511	122.62832	125.465177	45	86	KEEP	---	---	---	---	capture		Silent	SNP	150131409	150131409	12510	1	G	A	A	A	522	41	PLEKHO1	2	2
ANP32E	81611	broad.mit.edu	37	1	150201429	150201429	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150201429C>A	uc001etw.2	-	c.469G>T	c.(469-471)GAC>TAC	p.D157Y	ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Missense_Mutation_p.D109Y|ANP32E_uc010pbv.1_Missense_Mutation_p.D116Y|ANP32E_uc001etv.3_Missense_Mutation_p.D157Y|ANP32E_uc010pbw.1_Intron	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	157	Asp/Glu-rich (highly acidic).|LRRCT.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.34058	120.766561	123.874189	47	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150201429	150201429	717	1	C	A	A	A	390	30	ANP32E	2	2
ARHGEF11	9826	broad.mit.edu	37	1	156911687	156911687	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156911687C>A	uc001fqn.2	-	c.3421G>T	c.(3421-3423)GAG>TAG	p.E1141*	ARHGEF11_uc010phu.1_Nonsense_Mutation_p.E517*|ARHGEF11_uc001fqo.2_Nonsense_Mutation_p.E1101*	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1101					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.404412	143.616627	144.695807	55	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	156911687	156911687	910	1	C	A	A	A	390	30	ARHGEF11	5	2
PYHIN1	149628	broad.mit.edu	37	1	158913669	158913669	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913669C>T	uc001ftb.2	+	c.1092C>T	c.(1090-1092)ATC>ATT	p.I364I	PYHIN1_uc001ftc.2_Silent_p.I355I|PYHIN1_uc001ftd.2_Silent_p.I364I|PYHIN1_uc001fte.2_Silent_p.I355I	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	364	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.197802	37.602286	45.338058	18	73	KEEP	---	---	---	---	capture		Silent	SNP	158913669	158913669	13323	1	C	T	T	T	382	30	PYHIN1	2	2
C1orf226	400793	broad.mit.edu	37	1	162353080	162353080	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162353080G>T	uc010pkt.1	+	c.555G>T	c.(553-555)CAG>CAT	p.Q185H	C1orf226_uc001gby.2_Missense_Mutation_p.Q142H	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 1	142										ovary(1)	1														0.363636	31.386872	31.928362	12	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162353080	162353080	2103	1	G	T	T	T	438	34	C1orf226	2	2
RXRG	6258	broad.mit.edu	37	1	165398198	165398198	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165398198G>T	uc001gda.2	-	c.55C>A	c.(55-57)CCT>ACT	p.P19T		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	19	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.206897	13.335536	15.643276	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165398198	165398198	14245	1	G	T	T	T	559	43	RXRG	2	2
C1orf112	55732	broad.mit.edu	37	1	169816850	169816850	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169816850C>T	uc001ggp.2	+	c.1964C>T	c.(1963-1965)TCG>TTG	p.S655L	C1orf112_uc001ggj.2_Non-coding_Transcript|C1orf112_uc001ggq.2_Missense_Mutation_p.S655L|C1orf112_uc009wvt.2_Missense_Mutation_p.S332L|C1orf112_uc009wvu.1_Missense_Mutation_p.S531L|C1orf112_uc001ggr.2_Missense_Mutation_p.S520L|C1orf112_uc010plv.1_Missense_Mutation_p.S597L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	655				S -> L (in Ref. 2; BAA91761).							0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.316092	148.855599	154.093474	55	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169816850	169816850	2052	1	C	T	T	T	403	31	C1orf112	1	1
ASTN1	460	broad.mit.edu	37	1	176927511	176927511	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176927511A>T	uc001glc.2	-	c.1706T>A	c.(1705-1707)ATG>AAG	p.M569K	ASTN1_uc001glb.1_Missense_Mutation_p.M569K|ASTN1_uc001gld.1_Missense_Mutation_p.M569K|ASTN1_uc009wwx.1_Missense_Mutation_p.M569K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	577					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.361702	104.82887	106.409211	34	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176927511	176927511	1083	1	A	T	T	T	104	8	ASTN1	3	3
FAM5B	57795	broad.mit.edu	37	1	177250277	177250277	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177250277C>G	uc001glf.2	+	c.1965C>G	c.(1963-1965)GAC>GAG	p.D655E	FAM5B_uc001glg.2_Missense_Mutation_p.D550E	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	655						extracellular region				ovary(2)	2														0.322581	137.665718	141.126615	40	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177250277	177250277	5816	1	C	G	G	G	220	17	FAM5B	3	3
KIAA1614	57710	broad.mit.edu	37	1	180910191	180910191	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180910191G>A	uc001gok.2	+	c.2929G>A	c.(2929-2931)GGA>AGA	p.G977R	KIAA1614_uc001gol.1_Missense_Mutation_p.G598R|KIAA1614_uc001gom.1_Missense_Mutation_p.G68R	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	977	Ser-rich.									ovary(3)	3														0.448276	42.871662	42.939275	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180910191	180910191	8557	1	G	A	A	A	455	35	KIAA1614	2	2
TAS1R2	80834	broad.mit.edu	37	1	19184031	19184031	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19184031G>T	uc001bba.1	-	c.277C>A	c.(277-279)CTG>ATG	p.L93M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	93	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)									0.37234	98.597011	99.944163	35	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184031	19184031	16085	1	G	T	T	T	438	34	TAS1R2	2	2
ASPM	259266	broad.mit.edu	37	1	197112095	197112095	+	Nonsense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197112095C>T	uc001gtu.2	-	c.1287G>A	c.(1285-1287)TGG>TGA	p.W429*	ASPM_uc001gtv.2_Nonsense_Mutation_p.W429*|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	429					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.150602	42.166857	61.587246	25	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	197112095	197112095	1075	1	C	T	T	T	390	30	ASPM	5	2
PLA2G2E	30814	broad.mit.edu	37	1	20249235	20249235	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20249235G>T	uc001bct.1	-	c.54C>A	c.(52-54)ACC>ACA	p.T18T		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	18					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				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;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)										0.327273	45.020788	46.481621	18	37	KEEP	---	---	---	---	capture		Silent	SNP	20249235	20249235	12424	1	G	T	T	T	496	39	PLA2G2E	1	1
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205156672C>A	uc001hbw.2	-	c.528G>T	c.(526-528)ACG>ACT	p.T176T	DSTYK_uc001hbx.2_Silent_p.T176T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	176					protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1										236				0.342857	70.114467	71.624848	24	46	KEEP	---	---	---	---	capture		Silent	SNP	205156672	205156672	4969	1	C	A	A	A	340	27	DSTYK	1	1
PLXNA2	5362	broad.mit.edu	37	1	208390425	208390425	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:208390425C>A	uc001hgz.2	-	c.843G>T	c.(841-843)GTG>GTT	p.V281V	PLXNA2_uc001hha.3_Silent_p.V335V	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	281	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.199)										0.377049	182.790039	185.229251	69	114	KEEP	---	---	---	---	capture		Silent	SNP	208390425	208390425	12546	1	C	A	A	A	314	25	PLXNA2	2	2
EIF4G3	8672	broad.mit.edu	37	1	21205816	21205816	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21205816C>A	uc001bef.2	-	c.2562G>T	c.(2560-2562)ACG>ACT	p.T854T	EIF4G3_uc010odi.1_Silent_p.T422T|EIF4G3_uc010odj.1_Silent_p.T817T|EIF4G3_uc009vpz.2_Silent_p.T538T|EIF4G3_uc001bec.2_Silent_p.T818T|EIF4G3_uc001bed.2_Silent_p.T818T|EIF4G3_uc001bee.2_Silent_p.T824T	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	818	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.318841	117.052526	121.076984	44	94	KEEP	---	---	---	---	capture		Silent	SNP	21205816	21205816	5229	1	C	A	A	A	288	23	EIF4G3	1	1
SLC30A10	55532	broad.mit.edu	37	1	220088835	220088835	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220088835T>A	uc001hlw.2	-	c.1414A>T	c.(1414-1416)AAA>TAA	p.K472*	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Nonsense_Mutation_p.K227*|SLC30A10_uc001hlx.2_Nonsense_Mutation_p.K247*	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	472	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.316143	391.085309	404.512095	141	305	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	220088835	220088835	15051	1	T	A	A	A	819	63	SLC30A10	5	3
LIN9	286826	broad.mit.edu	37	1	226485450	226485450	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226485450T>A	uc001hqa.2	-	c.177A>T	c.(175-177)AAA>AAT	p.K59N	LIN9_uc001hqb.2_Missense_Mutation_p.K59N|LIN9_uc001hqc.2_De_novo_Start_OutOfFrame|LIN9_uc009xel.1_Missense_Mutation_p.K59N	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	43	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		Ovarian(197;1696 2974 11248 14117)								0.322785	137.96443	142.372919	51	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226485450	226485450	9140	1	T	A	A	A	725	56	LIN9	3	3
RYR2	6262	broad.mit.edu	37	1	237604627	237604627	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237604627G>A	uc001hyl.1	+	c.1014G>A	c.(1012-1014)TTG>TTA	p.L338L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	338	Cytoplasmic (By similarity).|MIR 4.				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)											0.337838	66.641187	68.367459	25	49	KEEP	---	---	---	---	capture		Silent	SNP	237604627	237604627	14249	1	G	A	A	A	607	47	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237664018	237664018	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237664018T>G	uc001hyl.1	+	c.2211T>G	c.(2209-2211)ATT>ATG	p.I737M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	737	Cytoplasmic (By similarity).|B30.2/SPRY 1.				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)											0.234756	242.1239	263.218226	77	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237664018	237664018	14249	1	T	G	G	G	809	63	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237870570	237870570	+	Splice_Site_SNP	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237870570G>T	uc001hyl.1	+	c.9901_splice	c.e68+1	p.V3301_splice	RYR2_uc010pxz.1_Splice_Site_SNP_p.V256_splice	NM_001035	NP_001026			cardiac muscle ryanodine receptor						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)											0.5	29.574564	29.574564	9	9	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	237870570	237870570	14249	1	G	T	T	T	572	44	RYR2	5	2
OR2AK2	391191	broad.mit.edu	37	1	248129593	248129593	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248129593G>A	uc010pzd.1	+	c.960G>A	c.(958-960)TTG>TTA	p.L320L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.26087	73.255449	79.245015	30	85	KEEP	---	---	---	---	capture		Silent	SNP	248129593	248129593	11392	1	G	A	A	A	607	47	OR2AK2	2	2
OR2M3	127062	broad.mit.edu	37	1	248367177	248367177	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367177C>A	uc010pzg.1	+	c.808C>A	c.(808-810)CAG>AAG	p.Q270K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.352174	231.698373	236.134597	81	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248367177	248367177	11417	1	C	A	A	A	221	17	OR2M3	2	2
HMGB4	127540	broad.mit.edu	37	1	34330145	34330145	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34330145G>T	uc001bxp.2	+	c.353G>T	c.(352-354)TGG>TTG	p.W118L	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.W44L	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	HMG2 like isoform 1	118						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.3125	89.078842	92.58735	35	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34330145	34330145	7519	1	G	T	T	T	611	47	HMGB4	2	2
YIPF1	54432	broad.mit.edu	37	1	54331952	54331952	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:54331952C>T	uc001cvu.2	-	c.752G>A	c.(751-753)CGT>CAT	p.R251H	YIPF1_uc001cvv.2_Non-coding_Transcript|YIPF1_uc001cvw.2_Non-coding_Transcript|YIPF1_uc001cvx.2_Non-coding_Transcript|YIPF1_uc001cvy.2_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2														0.280702	38.27312	40.739602	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54331952	54331952	18060	1	C	T	T	T	247	19	YIPF1	1	1
DAB1	1600	broad.mit.edu	37	1	57537224	57537224	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57537224C>A	uc001cys.1	-	c.529G>T	c.(529-531)GAT>TAT	p.D177Y	DAB1_uc001cyt.1_Missense_Mutation_p.D177Y|DAB1_uc001cyq.1_Missense_Mutation_p.D177Y|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.D177Y|DAB1_uc009vzx.1_Missense_Mutation_p.D177Y	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	177	PID.				cell differentiation|nervous system development					ovary(1)	1										395				0.204545	36.204922	43.331249	18	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57537224	57537224	4383	1	C	A	A	A	390	30	DAB1	2	2
MSH4	4438	broad.mit.edu	37	1	76349325	76349325	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76349325T>C	uc001dhd.1	+	c.1926T>C	c.(1924-1926)GAT>GAC	p.D642D		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	642					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.413043	66.125899	66.427087	19	27	KEEP	---	---	---	---	capture		Silent	SNP	76349325	76349325	10265	1	T	C	C	C	634	49	MSH4	4	4
CLCA2	9635	broad.mit.edu	37	1	86919278	86919278	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86919278G>T	uc001dlr.3	+	c.2382G>T	c.(2380-2382)CAG>CAT	p.Q794H		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	794	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.307692	51.372855	53.51745	20	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86919278	86919278	3594	1	G	T	T	T	451	35	CLCA2	2	2
LPPR4	9890	broad.mit.edu	37	1	99771933	99771933	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771933T>C	uc001dse.2	+	c.1659T>C	c.(1657-1659)GCT>GCC	p.A553A	LPPR4_uc010oue.1_Silent_p.A495A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	553							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.244444	97.730896	105.74795	33	102	KEEP	---	---	---	---	capture		Silent	SNP	99771933	99771933	9300	1	T	C	C	C	691	54	LPPR4	4	4
PHF20	51230	broad.mit.edu	37	20	34487409	34487409	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34487409A>T	uc002xek.1	+	c.1400A>T	c.(1399-1401)AAA>ATA	p.K467I	PHF20_uc002xei.1_Missense_Mutation_p.K467I|PHF20_uc010gfo.1_Missense_Mutation_p.K467I|PHF20_uc002xej.1_Missense_Mutation_p.K351I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	467	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)													0.371795	75.545149	76.674769	29	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34487409	34487409	12254	20	A	T	T	T	13	1	PHF20	3	3
CHD6	84181	broad.mit.edu	37	20	40116400	40116401	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40116400_40116401CC>AA	uc002xka.1	-	c.1905_1906GG>TT	c.(1903-1908)GAGGAG>GATTAG	p.635_636EE>D*	CHD6_uc002xkd.2_Nonsense_Mutation_p.613_614EE>D*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	635_636	Helicase ATP-binding.				chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.391304	145.812762	147.240805	54	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	40116400	40116401	3463	20	CC	AA	AA	AA	390	30	CHD6	5	2
GNAS	2778	broad.mit.edu	37	20	57415374	57415374	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57415374C>T	uc002xzt.2	+	c.213C>T	c.(211-213)TCC>TCT	p.S71S	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	71					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.273585	72.432894	77.327377	29	77	KEEP	---	---	---	---	capture		Silent	SNP	57415374	57415374	6779	20	C	T	T	T	288	23	GNAS	1	1
ZNF831	128611	broad.mit.edu	37	20	57768208	57768208	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57768208G>T	uc002yan.2	+	c.2134G>T	c.(2134-2136)GAG>TAG	p.E712*		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	712						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.615385	23.901051	24.052322	8	5	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57768208	57768208	18784	20	G	T	T	T	533	41	ZNF831	5	2
TPTE	7179	broad.mit.edu	37	21	10951294	10951295	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10951294_10951295CC>AA	uc002yip.1	-	c.417_418GG>TT	c.(415-420)ATGGAT>ATTTAT	p.139_140MD>IY	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.121_122MD>IY|TPTE_uc002yir.1_Missense_Mutation_p.101_102MD>IY|TPTE_uc010gkv.1_Missense_Mutation_p.1_2MD>IY	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	139_140	Helical; (Potential).				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)										0.304348	83.362579	87.302685	35	80	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	10951294	10951295	16974	21	CC	AA	AA	AA	390	30	TPTE	2	2
MN1	4330	broad.mit.edu	37	22	28196355	28196355	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:28196355C>A	uc003adj.2	-	c.177G>T	c.(175-177)CCG>CCT	p.P59P		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	59							binding			central_nervous_system(3)|large_intestine(1)|ovary(1)	5										140				0.620253	141.954533	142.94952	49	30	KEEP	---	---	---	---	capture		Silent	SNP	28196355	28196355	10064	22	C	A	A	A	392	31	MN1	1	1
PPARA	5465	broad.mit.edu	37	22	46611143	46611143	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46611143C>T	uc003bgw.1	+	c.282C>T	c.(280-282)CCC>CCT	p.P94P	PPARA_uc003bgx.1_Silent_p.P94P|PPARA_uc010hab.1_Silent_p.P94P|PPARA_uc003bha.2_Silent_p.P94P|PPARA_uc003bhb.1_Silent_p.P94P|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	94					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glycolysis|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|positive regulation of fatty acid beta-oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)					164				0.803279	156.38741	161.629264	49	12	KEEP	---	---	---	---	capture		Silent	SNP	46611143	46611143	12727	22	C	T	T	T	262	21	PPARA	2	2
AFF3	3899	broad.mit.edu	37	2	100627997	100627997	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:100627997T>C	uc002taf.2	-	c.90A>G	c.(88-90)CTA>CTG	p.L30L	AFF3_uc002tag.2_Intron|AFF3_uc010fiq.1_Intron|AFF3_uc010yvr.1_Silent_p.L159L|AFF3_uc002tah.1_Silent_p.L30L|AFF3_uc010fir.1_Silent_p.L82L	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 2	17					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				0.184971	87.007369	103.097946	32	141	KEEP	---	---	---	---	capture		Silent	SNP	100627997	100627997	359	2	T	C	C	C	678	53	AFF3	4	4
IL1R1	3554	broad.mit.edu	37	2	102789251	102789251	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102789251A>G	uc002tbq.2	+	c.944A>G	c.(943-945)AAG>AGG	p.K315R	IL1R1_uc010fix.2_Missense_Mutation_p.K315R|IL1R1_uc002tbp.2_Missense_Mutation_p.K315R|IL1R1_uc002tbr.2_Missense_Mutation_p.K315R	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	315	Ig-like C2-type 3.|Extracellular (Potential).				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding				0					Anakinra(DB00026)					429				0.301887	54.780416	56.637218	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102789251	102789251	7959	2	A	G	G	G	39	3	IL1R1	4	4
TRIB2	28951	broad.mit.edu	37	2	12880878	12880878	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:12880878G>A	uc002rbv.3	+	c.990G>A	c.(988-990)CCG>CCA	p.P330P	TRIB2_uc010yjp.1_Silent_p.P194P	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	330					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein phosphorylation|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)									61				0.461538	110.478404	110.580032	36	42	KEEP	---	---	---	---	capture		Silent	SNP	12880878	12880878	17027	2	G	A	A	A	496	39	TRIB2	1	1
RND3	390	broad.mit.edu	37	2	151326622	151326622	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:151326622A>C	uc002txe.2	-	c.614T>G	c.(613-615)GTT>GGT	p.V205G	RND3_uc002txf.2_Missense_Mutation_p.V204G|RND3_uc002txg.2_Missense_Mutation_p.V205G|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.V68G	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	205					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity				0				BRCA - Breast invasive adenocarcinoma(221;0.106)										0.506329	288.411005	288.416713	80	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151326622	151326622	13898	2	A	C	C	C	26	2	RND3	4	4
SLC38A11	151258	broad.mit.edu	37	2	165796039	165796039	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165796039C>T	uc002ucv.1	-	c.290G>A	c.(289-291)CGC>CAC	p.R97H	SLC38A11_uc002ucu.1_Missense_Mutation_p.R75H|SLC38A11_uc002ucw.1_Missense_Mutation_p.R97H	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	97	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.381818	57.330929	58.014466	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165796039	165796039	15100	2	C	T	T	T	351	27	SLC38A11	1	1
XIRP2	129446	broad.mit.edu	37	2	168098402	168098402	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168098402C>A	uc002udx.2	+	c.1158C>A	c.(1156-1158)ACC>ACA	p.T386T	XIRP2_uc010fpn.2_Silent_p.T419T|XIRP2_uc010fpo.2_Silent_p.T386T|XIRP2_uc010fpp.2_Silent_p.T386T|XIRP2_uc002udy.2_Silent_p.T211T|XIRP2_uc010fpq.2_Silent_p.T164T|XIRP2_uc010fpr.2_Silent_p.T164T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	211					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.373333	142.843581	144.963402	56	94	KEEP	---	---	---	---	capture		Silent	SNP	168098402	168098402	18011	2	C	A	A	A	275	22	XIRP2	2	2
TTN	7273	broad.mit.edu	37	2	179477787	179477787	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179477787G>T	uc010zfg.1	-	c.41957C>A	c.(41956-41958)CCC>CAC	p.P13986H	TTN_uc010zfh.1_Missense_Mutation_p.P7681H|TTN_uc010zfi.1_Missense_Mutation_p.P7614H|TTN_uc010zfj.1_Missense_Mutation_p.P7489H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.2	21.971072	26.992088	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179477787	179477787	17290	2	G	T	T	T	559	43	TTN	2	2
ZNF804A	91752	broad.mit.edu	37	2	185802439	185802439	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185802439T>C	uc002uph.2	+	c.2316T>C	c.(2314-2316)CGT>CGC	p.R772R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.210526	47.492525	53.357867	16	60	KEEP	---	---	---	---	capture		Silent	SNP	185802439	185802439	18768	2	T	C	C	C	730	57	ZNF804A	4	4
SATB2	23314	broad.mit.edu	37	2	200246416	200246416	+	Splice_Site_SNP	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200246416C>A	uc002uuy.1	-	c.473_splice	c.e4+1	p.S158_splice	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Splice_Site_SNP_p.S158_splice|SATB2_uc002uva.1_Splice_Site_SNP_p.S158_splice	NM_015265	NP_056080			SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.263158	90.769686	97.51437	35	98	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	200246416	200246416	14335	2	C	A	A	A	234	18	SATB2	5	2
CPS1	1373	broad.mit.edu	37	2	211541795	211541795	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211541795C>G	uc010fur.2	+	c.4357C>G	c.(4357-4359)CAT>GAT	p.H1453D	CPS1_uc002vee.3_Missense_Mutation_p.H1447D|CPS1_uc010fus.2_Missense_Mutation_p.H996D	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1447					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.211982	111.118546	127.697042	46	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211541795	211541795	3961	2	C	G	G	G	273	21	CPS1	3	3
APOB	338	broad.mit.edu	37	2	21232872	21232872	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232872C>A	uc002red.2	-	c.6868G>T	c.(6868-6870)GAG>TAG	p.E2290*		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2290					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.434783	194.907266	195.507395	70	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21232872	21232872	796	2	C	A	A	A	377	29	APOB	5	2
ABCA12	26154	broad.mit.edu	37	2	215812271	215812271	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215812271T>C	uc002vew.2	-	c.7114A>G	c.(7114-7116)AAA>GAA	p.K2372E	ABCA12_uc002vev.2_Missense_Mutation_p.K2054E|ABCA12_uc010zjn.1_Missense_Mutation_p.K1299E	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2372	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.128571	16.327379	25.746511	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215812271	215812271	31	2	T	C	C	C	793	61	ABCA12	4	4
DIS3L2	129563	broad.mit.edu	37	2	233199125	233199125	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233199125G>T	uc010fxz.2	+	c.2205G>T	c.(2203-2205)CAG>CAT	p.Q735H	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	735							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)										0.482759	36.324091	36.332397	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233199125	233199125	4716	2	G	T	T	T	451	35	DIS3L2	2	2
RAMP1	10267	broad.mit.edu	37	2	238820227	238820227	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238820227C>T	uc002vxj.2	+	c.249C>T	c.(247-249)TTC>TTT	p.F83F		NM_005855	NP_005846	O60894	RAMP1_HUMAN	receptor activity-modifying protein 1 precursor	83	Extracellular (Potential).				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity				0		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	NSCLC(177;211 2889 43936 50767)								0.464286	77.341598	77.40404	26	30	KEEP	---	---	---	---	capture		Silent	SNP	238820227	238820227	13481	2	C	T	T	T	415	32	RAMP1	2	2
AQP12A	375318	broad.mit.edu	37	2	241631418	241631419	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241631418_241631419CC>AA	uc002vzu.2	+	c.88_89CC>AA	c.(88-90)CCA>AAA	p.P30K	AQP12A_uc002vzv.2_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	30						integral to membrane	transporter activity				0		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)										0.228916	41.838167	47.395569	19	64	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	241631418	241631419	835	2	CC	AA	AA	AA	286	22	AQP12A	2	2
OTOF	9381	broad.mit.edu	37	2	26705389	26705389	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26705389G>A	uc002rhk.2	-	c.1464C>T	c.(1462-1464)TTC>TTT	p.F488F		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	488	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.365079	125.931951	127.942205	46	80	KEEP	---	---	---	---	capture		Silent	SNP	26705389	26705389	11715	2	G	A	A	A	529	41	OTOF	2	2
TCF23	150921	broad.mit.edu	37	2	27375604	27375604	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27375604G>C	uc010ylg.1	+	c.514G>C	c.(514-516)GAT>CAT	p.D172H		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	172					cell differentiation|muscle organ development	nucleus	transcription regulator activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.170732	31.503596	39.907523	14	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27375604	27375604	16218	2	G	C	C	C	481	37	TCF23	3	3
GALNT14	79623	broad.mit.edu	37	2	31181310	31181310	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31181310G>T	uc002rns.2	-	c.434C>A	c.(433-435)ACG>AAG	p.T145K	GALNT14_uc002rnq.2_Missense_Mutation_p.T120K|GALNT14_uc002rnr.2_Missense_Mutation_p.T140K|GALNT14_uc010ymr.1_Missense_Mutation_p.T105K|GALNT14_uc010ezo.1_Missense_Mutation_p.T107K|GALNT14_uc010ezp.1_Missense_Mutation_p.T111K	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	140	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.142857	29.277434	42.162014	15	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31181310	31181310	6476	2	G	T	T	T	520	40	GALNT14	1	1
SLC30A6	55676	broad.mit.edu	37	2	32417450	32417450	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32417450G>A	uc002rof.1	+	c.450G>A	c.(448-450)TTG>TTA	p.L150L	SLC30A6_uc002roe.1_Silent_p.L110L|SLC30A6_uc010ymw.1_Silent_p.L81L|SLC30A6_uc010ezr.1_Silent_p.L110L|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Silent_p.L36L|SLC30A6_uc002roh.1_5'UTR	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	110	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.172414	41.923545	53.687531	20	96	KEEP	---	---	---	---	capture		Silent	SNP	32417450	32417450	15056	2	G	A	A	A	607	47	SLC30A6	2	2
DHX57	90957	broad.mit.edu	37	2	39088702	39088702	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39088702T>A	uc002rrf.2	-	c.850A>T	c.(850-852)AGA>TGA	p.R284*	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Nonsense_Mutation_p.R284*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	284							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.213235	61.899243	72.234738	29	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39088702	39088702	4692	2	T	A	A	A	687	53	DHX57	5	3
PREPL	9581	broad.mit.edu	37	2	44565504	44565504	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44565504C>A	uc002ruf.2	-	c.1141G>T	c.(1141-1143)GTT>TTT	p.V381F	PREPL_uc002rug.2_Missense_Mutation_p.V381F|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Missense_Mutation_p.V381F|PREPL_uc002rui.3_Missense_Mutation_p.V292F|PREPL_uc002ruj.1_Missense_Mutation_p.V292F|PREPL_uc002ruk.1_Missense_Mutation_p.V381F	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	381					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.180328	25.485598	31.348193	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44565504	44565504	12918	2	C	A	A	A	260	20	PREPL	2	2
C2orf86	51057	broad.mit.edu	37	2	63631476	63631476	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:63631476G>A	uc002sch.2	-	c.1142C>T	c.(1141-1143)TCA>TTA	p.S381L	C2orf86_uc002sce.2_Non-coding_Transcript|C2orf86_uc002scf.2_Missense_Mutation_p.S222L|C2orf86_uc010ypu.1_Non-coding_Transcript|C2orf86_uc002scg.2_Missense_Mutation_p.S189L|C2orf86_uc002sci.1_Missense_Mutation_p.S357L|C2orf86_uc010fcr.1_Missense_Mutation_p.S271L	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	381	WD 2.				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0														0.475248	136.788376	136.842174	48	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63631476	63631476	2293	2	G	A	A	A	585	45	C2orf86	2	2
AAK1	22848	broad.mit.edu	37	2	69784102	69784102	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69784102C>A	uc002sfp.2	-	c.172G>T	c.(172-174)GCT>TCT	p.A58S	AAK1_uc010fdk.2_Missense_Mutation_p.A58S|AAK1_uc010yqm.1_Missense_Mutation_p.A58S|AAK1_uc010fdm.1_Missense_Mutation_p.A58S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	58	Protein kinase.|ATP (By similarity).				protein phosphorylation	coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0										752				0.2	21.718318	25.906392	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69784102	69784102	17	2	C	A	A	A	325	25	AAK1	2	2
ASTL	431705	broad.mit.edu	37	2	96799187	96799187	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96799187G>A	uc010yui.1	-	c.432C>T	c.(430-432)TTC>TTT	p.F144F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	144					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.2125	69.140938	81.39015	34	126	KEEP	---	---	---	---	capture		Silent	SNP	96799187	96799187	1082	2	G	A	A	A	581	45	ASTL	2	2
IGSF11	152404	broad.mit.edu	37	3	118647443	118647443	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118647443A>T	uc003ebw.2	-	c.337T>A	c.(337-339)TCA>ACA	p.S113T	IGSF11_uc011biv.1_Missense_Mutation_p.S113T|IGSF11_uc003ebx.2_Missense_Mutation_p.S113T|IGSF11_uc003eby.2_Missense_Mutation_p.S112T|IGSF11_uc003ebz.2_Missense_Mutation_p.S112T|IGSF11_uc010hqs.2_Missense_Mutation_p.S112T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	113	Ig-like V-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.684932	171.575064	173.797268	50	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118647443	118647443	7899	3	A	T	T	T	156	12	IGSF11	3	3
KPNA1	3836	broad.mit.edu	37	3	122170440	122170440	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122170440C>T	uc003efd.1	-	c.694G>A	c.(694-696)GCA>ACA	p.A232T	KPNA1_uc003efb.1_Missense_Mutation_p.A31T|KPNA1_uc003efc.1_Missense_Mutation_p.A31T|KPNA1_uc011bjr.1_Missense_Mutation_p.A31T|KPNA1_uc010hrh.2_Missense_Mutation_p.A31T|KPNA1_uc003efe.2_Missense_Mutation_p.A232T	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	232	NLS binding site (major) (By similarity).|ARM 4.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		Melanoma(12;340 801 11196 19797)								0.626087	210.359009	211.948882	72	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122170440	122170440	8743	3	C	T	T	T	325	25	KPNA1	2	2
FGD5	152273	broad.mit.edu	37	3	14940269	14940269	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14940269G>C	uc003bzc.2	+	c.3090G>C	c.(3088-3090)CAG>CAC	p.Q1030H	FGD5_uc011avk.1_Missense_Mutation_p.Q1030H|FGD5_uc003bzd.2_Missense_Mutation_p.Q108H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1030	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.75	20.953496	21.407707	6	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14940269	14940269	6073	3	G	C	C	C	425	33	FGD5	3	3
RNF13	11342	broad.mit.edu	37	3	149678821	149678821	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:149678821A>G	uc003exn.3	+	c.1076A>G	c.(1075-1077)AAT>AGT	p.N359S	RNF13_uc003exp.3_Missense_Mutation_p.N359S|RNF13_uc010hvh.2_Missense_Mutation_p.N240S	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	359	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)											0.72449	284.774257	289.224147	71	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149678821	149678821	13914	3	A	G	G	G	52	4	RNF13	4	4
MME	4311	broad.mit.edu	37	3	154860027	154860027	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154860027G>T	uc010hvr.1	+	c.1096G>T	c.(1096-1098)GAT>TAT	p.D366Y	MME_uc003fab.1_Missense_Mutation_p.D366Y|MME_uc003fac.1_Missense_Mutation_p.D366Y|MME_uc003fad.1_Missense_Mutation_p.D366Y|MME_uc003fae.1_Missense_Mutation_p.D366Y	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	366	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.368056	142.726717	144.934474	53	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154860027	154860027	10035	3	G	T	T	T	429	33	MME	2	2
SKIL	6498	broad.mit.edu	37	3	170108088	170108088	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170108088A>G	uc003fgu.2	+	c.1507A>G	c.(1507-1509)AAA>GAA	p.K503E	SKIL_uc011bps.1_Missense_Mutation_p.K483E|SKIL_uc003fgv.2_Missense_Mutation_p.K457E|SKIL_uc003fgw.2_Missense_Mutation_p.K503E	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	503					cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)							159				0.664062	278.885861	281.929142	85	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170108088	170108088	14853	3	A	G	G	G	65	5	SKIL	4	4
ABCC5	10057	broad.mit.edu	37	3	183705647	183705647	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183705647G>C	uc003fmg.2	-	c.502C>G	c.(502-504)CGA>GGA	p.R168G	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.R168G|ABCC5_uc003fmh.2_Missense_Mutation_p.R168G|ABCC5_uc010hxm.2_Non-coding_Transcript|ABCC5_uc010hxn.2_Missense_Mutation_p.R168G|ABCC5_uc010hxo.2_Missense_Mutation_p.R168G	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	168						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.585714	153.288921	153.738507	41	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183705647	183705647	57	3	G	C	C	C	493	38	ABCC5	3	3
CNTN4	152330	broad.mit.edu	37	3	3076339	3076339	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3076339G>A	uc003bpc.2	+	c.1807G>A	c.(1807-1809)GTG>ATG	p.V603M	CNTN4_uc003bpb.1_Missense_Mutation_p.V274M|CNTN4_uc003bpd.1_Missense_Mutation_p.V603M|CNTN4_uc003bpe.2_Missense_Mutation_p.V275M|CNTN4_uc003bpf.2_Missense_Mutation_p.V274M	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	603	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.646154	124.057671	125.278591	42	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3076339	3076339	3781	3	G	A	A	A	624	48	CNTN4	2	2
DYNC1LI1	51143	broad.mit.edu	37	3	32586469	32586469	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:32586469C>A	uc003cfb.3	-	c.467G>T	c.(466-468)TGG>TTG	p.W156L	DYNC1LI1_uc011axh.1_Intron	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	156					cell division|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1														0.552381	181.858394	182.109163	58	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32586469	32586469	5030	3	C	A	A	A	273	21	DYNC1LI1	2	2
PDCD6IP	10015	broad.mit.edu	37	3	33863558	33863558	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33863558C>T	uc003cfy.2	+	c.446C>T	c.(445-447)GCT>GTT	p.A149V	PDCD6IP_uc011axv.1_Missense_Mutation_p.A149V|PDCD6IP_uc003cfx.2_Missense_Mutation_p.A149V	NM_001162429	NP_001155901	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	149	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2														0.196078	22.817774	27.210283	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33863558	33863558	12045	3	C	T	T	T	364	28	PDCD6IP	2	2
COL7A1	1294	broad.mit.edu	37	3	48612517	48612517	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48612517G>C	uc003ctz.2	-	c.6259C>G	c.(6259-6261)CCC>GCC	p.P2087A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2087	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.641791	140.700202	141.881708	43	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48612517	48612517	3842	3	G	C	C	C	559	43	COL7A1	3	3
BAP1	8314	broad.mit.edu	37	3	52439224	52439224	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52439224C>T	uc003ddx.2	-	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S	BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	340					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			eye(28)|lung(2)|ovary(1)|breast(1)	32				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GBM(101;493 1458 7992 21037 25532)				294				0.589404	286.581181	287.632921	89	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52439224	52439224	1332	3	C	T	T	T	312	24	BAP1	2	2
BAP1	8314	broad.mit.edu	37	3	52442492	52442492	+	Nonsense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52442492G>A	uc003ddx.2	-	c.253C>T	c.(253-255)CAG>TAG	p.Q85*	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	85					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			eye(28)|lung(2)|ovary(1)|breast(1)	32				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GBM(101;493 1458 7992 21037 25532)				294				0.272727	7.419505	7.932081	3	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52442492	52442492	1332	3	G	A	A	A	611	47	BAP1	5	2
OR5K1	26339	broad.mit.edu	37	3	98188519	98188519	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98188519C>A	uc003dsm.2	+	c.99C>A	c.(97-99)GCC>GCA	p.A33A		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.67234	489.985147	496.160528	158	77	KEEP	---	---	---	---	capture		Silent	SNP	98188519	98188519	11576	3	C	A	A	A	262	21	OR5K1	2	2
ADH4	127	broad.mit.edu	37	4	100063931	100063931	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100063931C>A	uc003hun.2	-	c.19G>T	c.(19-21)GTT>TTT	p.V7F	ADH4_uc011ced.1_Missense_Mutation_p.V26F	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	7					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)									0.333333	16.712669	17.231952	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100063931	100063931	311	4	C	A	A	A	234	18	ADH4	2	2
CENPE	1062	broad.mit.edu	37	4	104070561	104070561	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104070561T>A	uc003hxb.1	-	c.3401A>T	c.(3400-3402)CAG>CTG	p.Q1134L	CENPE_uc003hxc.1_Missense_Mutation_p.Q1109L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1134	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.2	19.980791	23.325879	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104070561	104070561	3363	4	T	A	A	A	715	55	CENPE	3	3
PAPSS1	9061	broad.mit.edu	37	4	108566169	108566169	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108566169A>G	uc003hyk.2	-	c.1295T>C	c.(1294-1296)ATG>ACG	p.M432T		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	432	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)										0.297619	69.68035	72.799536	25	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108566169	108566169	11851	4	A	G	G	G	104	8	PAPSS1	4	4
RNF150	57484	broad.mit.edu	37	4	141889013	141889013	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141889013C>T	uc003iio.1	-	c.499G>A	c.(499-501)GTG>ATG	p.V167M	RNF150_uc010iok.1_Missense_Mutation_p.V167M|RNF150_uc003iip.1_Missense_Mutation_p.V167M	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	167	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)													0.357143	108.799411	110.799183	40	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141889013	141889013	13928	4	C	T	T	T	247	19	RNF150	1	1
RXFP1	59350	broad.mit.edu	37	4	159572982	159572982	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159572982G>T	uc011cje.1	+	c.2130G>T	c.(2128-2130)CTG>CTT	p.L710L	RXFP1_uc003ipz.2_Silent_p.L683L|RXFP1_uc011cja.1_Silent_p.L578L|RXFP1_uc010iqo.2_Silent_p.L635L|RXFP1_uc011cjb.1_Silent_p.L581L|RXFP1_uc010iqk.2_Silent_p.L551L|RXFP1_uc011cjc.1_Silent_p.L602L|RXFP1_uc011cjd.1_Silent_p.L602L|RXFP1_uc010iql.2_Silent_p.L527L|RXFP1_uc010iqm.2_Silent_p.L650L|RXFP1_uc011cjf.1_Silent_p.L552L|RXFP1_uc010iqn.2_Silent_p.L628L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	683	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)										0.254717	64.569258	70.359989	27	79	KEEP	---	---	---	---	capture		Silent	SNP	159572982	159572982	14239	4	G	T	T	T	574	45	RXFP1	2	2
MARCH1	55016	broad.mit.edu	37	4	164507069	164507069	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164507069G>A	uc003iqs.1	-	c.255C>T	c.(253-255)TGC>TGT	p.C85C	MARCH1_uc003iqr.1_Silent_p.C68C	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	85	RING-CH-type.					cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.30303	23.034456	24.17937	10	23	KEEP	---	---	---	---	capture		Silent	SNP	164507069	164507069	9681	4	G	A	A	A	490	38	MARCH1	1	1
GALNT7	51809	broad.mit.edu	37	4	174169580	174169580	+	Silent	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174169580A>G	uc003isz.3	+	c.576A>G	c.(574-576)TTA>TTG	p.L192L		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	192	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)										0.292135	85.5206	88.960351	26	63	KEEP	---	---	---	---	capture		Silent	SNP	174169580	174169580	6482	4	A	G	G	G	180	14	GALNT7	4	4
NEIL3	55247	broad.mit.edu	37	4	178257373	178257373	+	Silent	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:178257373G>C	uc003iut.2	+	c.525G>C	c.(523-525)CGG>CGC	p.R175R	NEIL3_uc010irs.2_Silent_p.R78R	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	175					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)										0.240385	76.02103	82.418225	25	79	KEEP	---	---	---	---	capture		Silent	SNP	178257373	178257373	10719	4	G	C	C	C	522	41	NEIL3	3	3
ODZ3	55714	broad.mit.edu	37	4	183696202	183696202	+	Silent	SNP	A	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183696202A>C	uc003ivd.1	+	c.5200A>C	c.(5200-5202)AGA>CGA	p.R1734R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1734	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.229508	35.448713	39.521635	14	47	KEEP	---	---	---	---	capture		Silent	SNP	183696202	183696202	11241	4	A	C	C	C	36	3	ODZ3	4	4
WHSC1	7468	broad.mit.edu	37	4	1957494	1957494	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1957494G>T	uc003gdz.3	+	c.2593G>T	c.(2593-2595)GGC>TGC	p.G865C	WHSC1_uc003geb.3_Missense_Mutation_p.G865C|WHSC1_uc003gec.3_Missense_Mutation_p.G865C|WHSC1_uc003ged.3_Missense_Mutation_p.G865C|WHSC1_uc003gee.3_Non-coding_Transcript|WHSC1_uc003gef.3_Non-coding_Transcript|WHSC1_uc003gei.3_Missense_Mutation_p.G84C|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.G213C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	865	PHD-type 3.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)						355				0.28125	25.461844	26.837672	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1957494	1957494	17936	4	G	T	T	T	507	39	WHSC1	1	1
NOP14	8602	broad.mit.edu	37	4	2956197	2956197	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2956197C>A	uc003ggj.1	-	c.566G>T	c.(565-567)CGG>CTG	p.R189L	C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_5'Flank|NOP14_uc003ggk.3_Missense_Mutation_p.R189L|NOP14_uc003ggl.2_Missense_Mutation_p.R189L|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	189					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1														0.339744	152.514742	156.06241	53	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2956197	2956197	10939	4	C	A	A	A	299	23	NOP14	1	1
PCDH7	5099	broad.mit.edu	37	4	30723098	30723098	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:30723098C>A	uc011bxx.1	+	c.54C>A	c.(52-54)TGC>TGA	p.C18*	PCDH7_uc011bxw.1_Nonsense_Mutation_p.C18*|PCDH7_uc003gsk.1_Nonsense_Mutation_p.C18*	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	18					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.625	13.773251	13.882464	5	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30723098	30723098	11936	4	C	A	A	A	337	26	PCDH7	5	2
WDR19	57728	broad.mit.edu	37	4	39271647	39271647	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39271647A>C	uc003gtv.2	+	c.3410A>C	c.(3409-3411)AAA>ACA	p.K1137T	WDR19_uc011byi.1_Missense_Mutation_p.K977T|WDR19_uc003gtw.1_Missense_Mutation_p.K734T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1137					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.306667	75.806682	78.300708	23	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39271647	39271647	17852	4	A	C	C	C	13	1	WDR19	4	4
YIPF7	285525	broad.mit.edu	37	4	44626656	44626656	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44626656C>A	uc010ifx.1	-	c.642G>T	c.(640-642)ATG>ATT	p.M214I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	214	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0														0.357143	13.970495	14.222417	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44626656	44626656	18066	4	C	A	A	A	273	21	YIPF7	2	2
SCFD2	152579	broad.mit.edu	37	4	54232021	54232021	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54232021C>A	uc003gzu.2	-	c.88G>T	c.(88-90)GCC>TCC	p.A30S	SCFD2_uc010igm.2_Missense_Mutation_p.A30S	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	30					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.392857	64.960536	65.515299	22	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54232021	54232021	14371	4	C	A	A	A	351	27	SCFD2	1	1
KIAA1211	57482	broad.mit.edu	37	4	57181921	57181921	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57181921G>A	uc003hbk.2	+	c.2253G>A	c.(2251-2253)CTG>CTA	p.L751L	KIAA1211_uc010iha.2_Silent_p.L744L|KIAA1211_uc011bzz.1_Silent_p.L661L|KIAA1211_uc003hbm.1_Silent_p.L637L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	751										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.340426	42.177878	43.239385	16	31	KEEP	---	---	---	---	capture		Silent	SNP	57181921	57181921	8523	4	G	A	A	A	600	47	KIAA1211	2	2
TMPRSS11F	389208	broad.mit.edu	37	4	68930431	68930431	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68930431G>T	uc003hdt.1	-	c.987C>A	c.(985-987)GTC>GTA	p.V329V	LOC550112_uc003hdl.3_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	329	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.298851	64.410219	67.559932	26	61	KEEP	---	---	---	---	capture		Silent	SNP	68930431	68930431	16784	4	G	T	T	T	574	45	TMPRSS11F	2	2
SHROOM3	57619	broad.mit.edu	37	4	77675915	77675915	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77675915C>T	uc011cbx.1	+	c.4279C>T	c.(4279-4281)CCT>TCT	p.P1427S	SHROOM3_uc003hkg.2_Missense_Mutation_p.P1205S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1427					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			ovary(1)	1			Lung(101;0.0903)											0.325	30.657275	31.746482	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77675915	77675915	14790	4	C	T	T	T	234	18	SHROOM3	2	2
MEPE	56955	broad.mit.edu	37	4	88767146	88767146	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88767146C>A	uc003hqy.2	+	c.1126C>A	c.(1126-1128)CCT>ACT	p.P376T	MEPE_uc010ikn.2_Missense_Mutation_p.P263T	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	376					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)										0.293103	37.244418	39.472735	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88767146	88767146	9867	4	C	A	A	A	390	30	MEPE	2	2
CTNND2	1501	broad.mit.edu	37	5	11364947	11364947	+	Silent	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11364947C>G	uc003jfa.1	-	c.1233G>C	c.(1231-1233)CGG>CGC	p.R411R	CTNND2_uc010itt.2_Silent_p.R320R|CTNND2_uc011cmy.1_Silent_p.R74R|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.302326	73.233016	76.224328	26	60	KEEP	---	---	---	---	capture		Silent	SNP	11364947	11364947	4179	5	C	G	G	G	275	22	CTNND2	3	3
FTMT	94033	broad.mit.edu	37	5	121187857	121187857	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:121187857C>T	uc003kss.2	+	c.199C>T	c.(199-201)CGG>TGG	p.R67W		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	67					cellular iron ion homeostasis|iron ion transport|oxidation-reduction process|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)										0.548387	49.973107	50.035765	17	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121187857	121187857	6336	5	C	T	T	T	399	31	FTMT	1	1
PCDHB12	56124	broad.mit.edu	37	5	140589131	140589131	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589131G>C	uc003liz.2	+	c.652G>C	c.(652-654)GGG>CGG	p.G218R	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.641975	186.826013	188.267193	52	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140589131	140589131	11957	5	G	C	C	C	507	39	PCDHB12	3	3
STK32A	202374	broad.mit.edu	37	5	146750236	146750236	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146750236C>T	uc011dbw.1	+	c.680C>T	c.(679-681)TCC>TTC	p.S227F	STK32A_uc003lom.2_Missense_Mutation_p.S227F|STK32A_uc010jgn.1_Missense_Mutation_p.S227F	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	227	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)							651				0.517857	181.247646	181.278399	58	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146750236	146750236	15817	5	C	T	T	T	390	30	STK32A	2	2
HRH2	3274	broad.mit.edu	37	5	175111083	175111083	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175111083C>A	uc003mdc.3	+	c.847C>A	c.(847-849)CTG>ATG	p.L283M	HRH2_uc003mdd.2_Missense_Mutation_p.L283M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	histamine receptor H2 isoform 1	283	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.486111	94.495764	94.508608	35	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175111083	175111083	7648	5	C	A	A	A	311	24	HRH2	2	2
CDH12	1010	broad.mit.edu	37	5	21975206	21975206	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21975206G>C	uc010iuc.2	-	c.520C>G	c.(520-522)CCT>GCT	p.P174A	CDH12_uc011cno.1_Missense_Mutation_p.P174A|CDH12_uc003jgk.2_Missense_Mutation_p.P174A	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	174	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.315217	200.286293	205.873446	58	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21975206	21975206	3227	5	G	C	C	C	533	41	CDH12	3	3
LMBRD2	92255	broad.mit.edu	37	5	36105281	36105281	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36105281C>A	uc003jkb.1	-	c.1916G>T	c.(1915-1917)AGG>ATG	p.R639M		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	639	Cytoplasmic (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)							2				0.103093	26.390467	87.302288	40	348	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36105281	36105281	9172	5	C	A	A	A	312	24	LMBRD2	2	2
EGFLAM	133584	broad.mit.edu	37	5	38425153	38425153	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38425153G>T	uc003jlc.1	+	c.1769G>T	c.(1768-1770)TGC>TTC	p.C590F	EGFLAM_uc003jlb.1_Missense_Mutation_p.C590F|EGFLAM_uc003jle.1_Missense_Mutation_p.C356F|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	590	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.237467	213.034531	236.923644	90	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38425153	38425153	5155	5	G	T	T	T	598	46	EGFLAM	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5232579	5232579	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5232579G>T	uc003jdl.2	+	c.1800G>T	c.(1798-1800)AGG>AGT	p.R600S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R600S|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	600	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.324074	173.062667	179.003088	70	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5232579	5232579	262	5	G	T	T	T	529	41	ADAMTS16	2	2
KIAA0947	23379	broad.mit.edu	37	5	5463749	5463749	+	Silent	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5463749A>T	uc003jdm.3	+	c.4302A>T	c.(4300-4302)CCA>CCT	p.P1434P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1434										ovary(1)|central_nervous_system(1)	2														0.309353	125.883031	130.379137	43	96	KEEP	---	---	---	---	capture		Silent	SNP	5463749	5463749	8509	5	A	T	T	T	67	6	KIAA0947	3	3
GRIK2	2898	broad.mit.edu	37	6	102074443	102074443	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102074443C>G	uc003pqp.3	+	c.472C>G	c.(472-474)CGT>GGT	p.R158G	GRIK2_uc003pqn.2_Missense_Mutation_p.R158G|GRIK2_uc003pqo.3_Missense_Mutation_p.R158G|GRIK2_uc010kcw.2_Missense_Mutation_p.R158G	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	158	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.638889	235.595442	237.428175	69	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102074443	102074443	7053	6	C	G	G	G	299	23	GRIK2	3	3
THEMIS	387357	broad.mit.edu	37	6	128134688	128134688	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128134688G>C	uc011ebt.1	-	c.1098C>G	c.(1096-1098)CAC>CAG	p.H366Q	THEMIS_uc010kfa.2_Missense_Mutation_p.H269Q|THEMIS_uc003qbi.2_Missense_Mutation_p.H366Q|THEMIS_uc010kfb.2_Missense_Mutation_p.H331Q	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	366	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.669231	333.666906	336.96622	87	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128134688	128134688	16388	6	G	C	C	C	516	40	THEMIS	3	3
TAAR5	9038	broad.mit.edu	37	6	132910781	132910781	+	Silent	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132910781T>A	uc003qdk.2	-	c.45A>T	c.(43-45)GCA>GCT	p.A15A		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	15	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)										0.700935	260.667055	264.531022	75	32	KEEP	---	---	---	---	capture		Silent	SNP	132910781	132910781	16012	6	T	A	A	A	652	51	TAAR5	3	3
TAAR1	134864	broad.mit.edu	37	6	132966892	132966892	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132966892G>C	uc003qdm.1	-	c.251C>G	c.(250-252)TCT>TGT	p.S84C		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	84	Extracellular (Potential).					integral to membrane|plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)									0.454545	140.288629	140.447267	40	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132966892	132966892	16010	6	G	C	C	C	429	33	TAAR1	3	3
ECT2L	345930	broad.mit.edu	37	6	139167810	139167810	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139167810A>G	uc003qif.1	+	c.899A>G	c.(898-900)TAT>TGT	p.Y300C	ECT2L_uc011edq.1_Missense_Mutation_p.Y231C	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.575448	848.156102	850.089571	225	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139167810	139167810	5089	6	A	G	G	G	208	16	ECT2L	4	4
TULP4	56995	broad.mit.edu	37	6	158914673	158914673	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158914673G>T	uc003qrf.2	+	c.1700G>T	c.(1699-1701)CGG>CTG	p.R567L	TULP4_uc003qrg.2_Missense_Mutation_p.R567L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	567					intracellular signal transduction|regulation of transcription, DNA-dependent|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)										0.628205	155.996811	157.127372	49	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158914673	158914673	17331	6	G	T	T	T	507	39	TULP4	1	1
ZNF192	7745	broad.mit.edu	37	6	28116494	28116494	+	Silent	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28116494A>G	uc003nkn.1	+	c.309A>G	c.(307-309)CTA>CTG	p.L103L	ZNF192_uc010jqx.1_Silent_p.L103L|ZNF192_uc010jqy.1_5'UTR|ZNF192_uc011dkz.1_5'UTR	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	103	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.539823	228.499626	228.657808	61	52	KEEP	---	---	---	---	capture		Silent	SNP	28116494	28116494	18347	6	A	G	G	G	171	14	ZNF192	4	4
HLA-DOA	3111	broad.mit.edu	37	6	32975902	32975902	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32975902C>T	uc003ocr.2	-	c.219G>A	c.(217-219)GAG>GAA	p.E73E	HLA-DOA_uc010juj.2_Silent_p.E43E|HLA-DOA_uc010jui.2_Silent_p.E73E	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	73	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0														0.356164	70.525746	71.857828	26	47	KEEP	---	---	---	---	capture		Silent	SNP	32975902	32975902	7491	6	C	T	T	T	259	20	HLA-DOA	2	2
PNPLA1	285848	broad.mit.edu	37	6	36260888	36260888	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36260888G>A	uc010jwf.2	+	c.489G>A	c.(487-489)CCG>CCA	p.P163P	PNPLA1_uc003olw.1_Silent_p.P68P|PNPLA1_uc010jwe.1_Silent_p.P68P	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	163	Patatin.				lipid catabolic process		hydrolase activity			large_intestine(1)|breast(1)|pancreas(1)	3														0.4	174.827348	176.263687	66	99	KEEP	---	---	---	---	capture		Silent	SNP	36260888	36260888	12591	6	G	A	A	A	470	37	PNPLA1	1	1
CDYL	9425	broad.mit.edu	37	6	4892131	4892131	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4892131G>A	uc003mwi.2	+	c.371G>A	c.(370-372)AGA>AAA	p.R124K	CDYL_uc003mwj.2_Missense_Mutation_p.R70K|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_5'UTR|CDYL_uc011dhy.1_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	124					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)										0.326316	186.485194	191.56931	62	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4892131	4892131	3318	6	G	A	A	A	429	33	CDYL	2	2
PKHD1	5314	broad.mit.edu	37	6	51613441	51613441	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51613441C>T	uc003pah.1	-	c.8973G>A	c.(8971-8973)GTG>GTA	p.V2991V	PKHD1_uc010jzn.1_Silent_p.V974V|PKHD1_uc003pai.2_Silent_p.V2991V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2991	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.110638	28.866433	64.11548	26	209	KEEP	---	---	---	---	capture		Silent	SNP	51613441	51613441	12396	6	C	T	T	T	262	21	PKHD1	2	2
COL12A1	1303	broad.mit.edu	37	6	75827262	75827262	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75827262C>T	uc003phs.2	-	c.7355G>A	c.(7354-7356)GGG>GAG	p.G2452E	COL12A1_uc003pht.2_Missense_Mutation_p.G1288E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.559322	104.277963	104.458193	33	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75827262	75827262	3807	6	C	T	T	T	286	22	COL12A1	2	2
BCKDHB	594	broad.mit.edu	37	6	80982857	80982857	+	Silent	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80982857G>C	uc003pjd.2	+	c.957G>C	c.(955-957)GTG>GTC	p.V319V	BCKDHB_uc003pje.2_Silent_p.V319V	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	319					branched chain family amino acid catabolic process|oxidation-reduction process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)										0.6	111.059571	111.496506	30	20	KEEP	---	---	---	---	capture		Silent	SNP	80982857	80982857	1381	6	G	C	C	C	574	45	BCKDHB	3	3
PGM3	5238	broad.mit.edu	37	6	83898345	83898345	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:83898345C>T	uc011dyz.1	-	c.461G>A	c.(460-462)GGT>GAT	p.G154D	PGM3_uc003pjv.2_Missense_Mutation_p.G126D|PGM3_uc003pjw.2_Missense_Mutation_p.G45D	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	126					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)										0.149123	26.739809	40.17285	17	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83898345	83898345	12223	6	C	T	T	T	234	18	PGM3	2	2
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651512G>A	uc003pop.3	+	c.481G>A	c.(481-483)GAT>AAT	p.D161N		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	161	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.171875	19.580342	26.09786	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651512	96651512	6362	6	G	A	A	A	585	45	FUT9	2	2
RASA4	10156	broad.mit.edu	37	7	102236538	102236538	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102236538C>T	uc003vae.2	-	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	UPK3BL_uc003uzy.2_Intron|RASA4_uc011kla.1_Missense_Mutation_p.R187Q|RASA4_uc010lig.2_Missense_Mutation_p.R187Q|RASA4_uc003vaf.2_Missense_Mutation_p.R259Q|RASA4_uc011klb.1_Missense_Mutation_p.R187Q|RASA4_uc010lih.2_Missense_Mutation_p.R67Q|RASA4_uc011kld.1_Intron	NM_006989	NP_008920	O43374	RASL2_HUMAN	RAS p21 protein activator 4 isoform 1	259					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity				0														0.6	27.165409	27.294433	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102236538	102236538	13523	7	C	T	T	T	299	23	RASA4	1	1
BCAP29	55973	broad.mit.edu	37	7	107236320	107236320	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107236320G>A	uc011kma.1	+	c.353G>A	c.(352-354)AGA>AAA	p.R118K	BCAP29_uc003vej.2_Missense_Mutation_p.R118K|BCAP29_uc011kly.1_Missense_Mutation_p.R24K|BCAP29_uc011klz.1_Missense_Mutation_p.R118K	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	118	Helical; (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2														0.26	72.502188	77.718375	26	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107236320	107236320	1367	7	G	A	A	A	429	33	BCAP29	2	2
THSD7A	221981	broad.mit.edu	37	7	11446939	11446939	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11446939G>T	uc003ssf.3	-	c.3910C>A	c.(3910-3912)CTC>ATC	p.L1304I		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1304	Extracellular (Potential).|TSP type-1 13.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.4375	39.643131	39.752462	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11446939	11446939	16407	7	G	T	T	T	455	35	THSD7A	2	2
CFTR	1080	broad.mit.edu	37	7	117267576	117267576	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117267576A>T	uc003vjd.2	+	c.3469A>T	c.(3469-3471)ATG>TTG	p.M1157L	CFTR_uc011knq.1_Missense_Mutation_p.M563L	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1157	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)									0.322034	49.902223	51.56284	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117267576	117267576	3427	7	A	T	T	T	156	12	CFTR	3	3
CTTNBP2	83992	broad.mit.edu	37	7	117400585	117400585	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117400585A>G	uc003vjf.2	-	c.3076T>C	c.(3076-3078)TCT>CCT	p.S1026P		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1026										ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)										0.367893	378.483559	383.0658	110	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117400585	117400585	4204	7	A	G	G	G	117	9	CTTNBP2	4	4
ANKRD7	56311	broad.mit.edu	37	7	117874861	117874861	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117874861G>T	uc003vji.2	+	c.401G>T	c.(400-402)TGT>TTT	p.C134F		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	134	ANK 3.				male gonad development						0														0.344595	155.482296	158.638015	51	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117874861	117874861	694	7	G	T	T	T	624	48	ANKRD7	2	2
PAX4	5078	broad.mit.edu	37	7	127252046	127252046	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127252046G>T	uc010lld.1	-	c.700C>A	c.(700-702)CAG>AAG	p.Q234K	PAX4_uc003vmf.2_Missense_Mutation_p.Q232K|PAX4_uc003vmg.1_Missense_Mutation_p.Q234K|PAX4_uc003vmh.2_Missense_Mutation_p.Q232K	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	242					cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.363636	30.482977	31.025949	12	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127252046	127252046	11901	7	G	T	T	T	611	47	PAX4	2	2
FLNC	2318	broad.mit.edu	37	7	128492942	128492942	+	Missense_Mutation	SNP	A	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128492942A>C	uc003vnz.3	+	c.6065A>C	c.(6064-6066)AAG>ACG	p.K2022T	FLNC_uc003voa.3_Missense_Mutation_p.K1989T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2022	Filamin 18.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.151261	33.575419	47.452918	18	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128492942	128492942	6177	7	A	C	C	C	39	3	FLNC	4	4
ZNF398	57541	broad.mit.edu	37	7	148851053	148851053	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148851053C>T	uc011kum.1	+	c.56C>T	c.(55-57)TCC>TTC	p.S19F	ZNF398_uc011kul.1_5'UTR|ZNF398_uc003wfl.2_Missense_Mutation_p.S14F	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform b	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)											0.331395	152.306648	156.64423	57	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148851053	148851053	18478	7	C	T	T	T	390	30	ZNF398	2	2
SSPO	23145	broad.mit.edu	37	7	149489534	149489534	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149489534G>T	uc010lpk.2	+	c.5687G>T	c.(5686-5688)CGG>CTG	p.R1896L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1896	EGF-like 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.52	43.276331	43.285048	13	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149489534	149489534	15705	7	G	T	T	T	507	39	SSPO	1	1
ZNF862	643641	broad.mit.edu	37	7	149559129	149559129	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149559129A>T	uc010lpn.2	+	c.2880A>T	c.(2878-2880)GAA>GAT	p.E960D	ZNF862_uc003wgm.2_Non-coding_Transcript	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1														0.363636	203.734465	207.156562	76	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149559129	149559129	18798	7	A	T	T	T	24	2	ZNF862	3	3
TMEM176A	55365	broad.mit.edu	37	7	150498674	150498674	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150498674G>T	uc003whx.1	+	c.36G>T	c.(34-36)GAG>GAT	p.E12D	TMEM176B_uc003wht.3_5'Flank|TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	12						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.346667	66.710634	68.274825	26	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150498674	150498674	16626	7	G	T	T	T	451	35	TMEM176A	2	2
ABCB8	11194	broad.mit.edu	37	7	150731915	150731915	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150731915A>T	uc003wil.3	+	c.815A>T	c.(814-816)CAG>CTG	p.Q272L	ABCB8_uc003wii.2_Missense_Mutation_p.Q292L|ABCB8_uc003wij.3_Missense_Mutation_p.Q255L|ABCB8_uc010lpw.1_Missense_Mutation_p.Q74L|ABCB8_uc010lpx.2_Missense_Mutation_p.Q255L|ABCB8_uc011kvd.1_Missense_Mutation_p.Q167L|ABCB8_uc003wim.3_Missense_Mutation_p.Q50L|ABCB8_uc003wik.3_Missense_Mutation_p.Q255L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	272	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.333333	42.381665	43.563663	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150731915	150731915	48	7	A	T	T	T	91	7	ABCB8	3	3
DPP6	1804	broad.mit.edu	37	7	154172096	154172096	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154172096A>T	uc003wlk.2	+	c.431A>T	c.(430-432)CAT>CTT	p.H144L	DPP6_uc003wli.2_Missense_Mutation_p.H80L|DPP6_uc003wlj.2_Missense_Mutation_p.H144L|DPP6_uc010lqh.1_Missense_Mutation_p.H82L|DPP6_uc003wlm.2_Missense_Mutation_p.H82L|DPP6_uc011kvq.1_Missense_Mutation_p.H82L	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	144	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.340206	101.348529	103.536335	33	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154172096	154172096	4914	7	A	T	T	T	104	8	DPP6	3	3
ISPD	729920	broad.mit.edu	37	7	16341066	16341066	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:16341066G>A	uc010ktx.2	-	c.815C>T	c.(814-816)GCG>GTG	p.A272V	ISPD_uc010kty.2_Missense_Mutation_p.A222V	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	272					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1											Multiple Myeloma(15;0.18)			0.209302	17.747631	21.115463	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16341066	16341066	8168	7	G	A	A	A	494	38	ISPD	1	1
ABCB5	340273	broad.mit.edu	37	7	20762799	20762799	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20762799G>T	uc010kuh.2	+	c.2582G>T	c.(2581-2583)GGA>GTA	p.G861V	ABCB5_uc003suw.3_Missense_Mutation_p.G416V|ABCB5_uc003sux.1_Missense_Mutation_p.G39V	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	416	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.41	105.536738	106.272775	41	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20762799	20762799	45	7	G	T	T	T	533	41	ABCB5	2	2
GPR141	353345	broad.mit.edu	37	7	37780619	37780619	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37780619G>T	uc003tfm.1	+	c.624G>T	c.(622-624)GTG>GTT	p.V208V		NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	208	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3										74				0.333333	253.229763	260.180789	94	188	KEEP	---	---	---	---	capture		Silent	SNP	37780619	37780619	6923	7	G	T	T	T	587	46	GPR141	2	2
SDK1	221935	broad.mit.edu	37	7	4167083	4167083	+	Silent	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4167083A>G	uc003smx.2	+	c.3894A>G	c.(3892-3894)ACA>ACG	p.T1298T	SDK1_uc010kso.2_Silent_p.T574T|SDK1_uc003smy.2_5'Flank	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1298	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.26383	178.862263	190.701008	62	173	KEEP	---	---	---	---	capture		Silent	SNP	4167083	4167083	14454	7	A	G	G	G	93	8	SDK1	4	4
GLI3	2737	broad.mit.edu	37	7	42004566	42004566	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42004566C>A	uc011kbh.1	-	c.4105G>T	c.(4105-4107)GGC>TGC	p.G1369C	GLI3_uc011kbg.1_Missense_Mutation_p.G1310C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1369					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.369231	70.486016	71.461542	24	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42004566	42004566	6707	7	C	A	A	A	299	23	GLI3	1	1
SUMF2	25870	broad.mit.edu	37	7	56140737	56140737	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56140737G>A	uc003trv.2	+	c.329G>A	c.(328-330)GGA>GAA	p.G110E	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Missense_Mutation_p.G110E|SUMF2_uc011kcv.1_Non-coding_Transcript|SUMF2_uc011kcw.1_Missense_Mutation_p.G110E|SUMF2_uc011kcx.1_Missense_Mutation_p.G110E|SUMF2_uc003trt.2_Missense_Mutation_p.G3E|SUMF2_uc011kcy.1_Missense_Mutation_p.G110E|SUMF2_uc011kcz.1_Missense_Mutation_p.G110E|SUMF2_uc003tru.2_Non-coding_Transcript|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Non-coding_Transcript	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	91						endoplasmic reticulum lumen	metal ion binding			ovary(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.353448	112.637839	114.835605	41	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56140737	56140737	15906	7	G	A	A	A	533	41	SUMF2	2	2
MLXIPL	51085	broad.mit.edu	37	7	73020022	73020022	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73020022G>A	uc003tyn.1	-	c.897C>T	c.(895-897)ATC>ATT	p.I299I	MLXIPL_uc003tyk.1_Silent_p.I299I|MLXIPL_uc003tyl.1_Silent_p.I299I|MLXIPL_uc003tym.1_Silent_p.I299I|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.I206I|MLXIPL_uc003tyq.1_Silent_p.I41I	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	299					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.368421	20.020697	20.309556	7	12	KEEP	---	---	---	---	capture		Silent	SNP	73020022	73020022	10027	7	G	A	A	A	421	33	MLXIPL	2	2
RFC2	5982	broad.mit.edu	37	7	73668671	73668671	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73668671C>A	uc003uaj.2	-	c.43G>T	c.(43-45)GCC>TCC	p.A15S	RFC2_uc011kfa.1_Non-coding_Transcript|RFC2_uc003uak.2_Missense_Mutation_p.A15S|RFC2_uc010lbp.2_5'UTR|RFC2_uc003ual.2_5'UTR	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	15					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			liver(1)|central_nervous_system(1)	2														0.421053	20.458518	20.545658	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73668671	73668671	13716	7	C	A	A	A	338	26	RFC2	2	2
ZNF804B	219578	broad.mit.edu	37	7	88966215	88966215	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88966215A>G	uc011khi.1	+	c.3919A>G	c.(3919-3921)ATC>GTC	p.I1307V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1307						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.335227	408.968098	417.41116	118	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88966215	88966215	18769	7	A	G	G	G	208	16	ZNF804B	4	4
SUN1	23353	broad.mit.edu	37	7	901072	901072	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:901072G>T	uc011jvp.1	+	c.1835G>T	c.(1834-1836)GGG>GTG	p.G612V	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc003sjf.2_Missense_Mutation_p.G529V|SUN1_uc011jvq.1_Missense_Mutation_p.G509V|SUN1_uc003sjg.2_Missense_Mutation_p.G517V|SUN1_uc011jvr.1_Missense_Mutation_p.G410V|SUN1_uc003sji.2_Missense_Mutation_p.G450V|SUN1_uc003sjk.2_Missense_Mutation_p.G251V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	639	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0														0.341085	113.14606	116.032059	44	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	901072	901072	15911	7	G	T	T	T	559	43	SUN1	2	2
AKAP9	10142	broad.mit.edu	37	7	91603226	91603226	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91603226A>G	uc003ulg.2	+	c.250A>G	c.(250-252)ATG>GTG	p.M84V	AKAP9_uc003uld.3_Missense_Mutation_p.M84V|AKAP9_uc003ule.2_Missense_Mutation_p.M96V|AKAP9_uc003ulf.2_Missense_Mutation_p.M84V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	96					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.282609	84.116995	88.018694	26	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91603226	91603226	462	7	A	G	G	G	52	4	AKAP9	4	4
SAMD9L	219285	broad.mit.edu	37	7	92763391	92763391	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92763391T>C	uc003umh.1	-	c.1894A>G	c.(1894-1896)AGA>GGA	p.R632G	SAMD9L_uc003umj.1_Missense_Mutation_p.R632G|SAMD9L_uc003umi.1_Missense_Mutation_p.R632G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R632G|SAMD9L_uc003umk.1_Missense_Mutation_p.R632G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R632G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R632G|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	632										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)											0.401914	296.75932	298.517443	84	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92763391	92763391	14307	7	T	C	C	C	726	56	SAMD9L	4	4
CALCR	799	broad.mit.edu	37	7	93108688	93108688	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93108688C>A	uc003umv.1	-	c.237G>T	c.(235-237)CAG>CAT	p.Q79H	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.Q61H|CALCR_uc003umw.2_Missense_Mutation_p.Q61H	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	61	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)									0.32266	377.06753	388.412823	131	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93108688	93108688	2695	7	C	A	A	A	259	20	CALCR	2	2
NPTX2	4885	broad.mit.edu	37	7	98257786	98257786	+	Missense_Mutation	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98257786C>G	uc003upl.2	+	c.1141C>G	c.(1141-1143)CGC>GGC	p.R381G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	381	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)	2	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)											0.428571	41.496525	41.620972	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98257786	98257786	11008	7	C	G	G	G	299	23	NPTX2	3	3
STAG3	10734	broad.mit.edu	37	7	99802368	99802368	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99802368A>G	uc003utx.1	+	c.2921A>G	c.(2920-2922)CAG>CGG	p.Q974R	STAG3_uc011kjk.1_Missense_Mutation_p.Q916R|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.Q198R	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	974					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.354167	51.962098	52.861474	17	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99802368	99802368	15762	7	A	G	G	G	91	7	STAG3	4	4
SNX31	169166	broad.mit.edu	37	8	101629909	101629909	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101629909G>C	uc003yjr.2	-	c.371C>G	c.(370-372)CCC>CGC	p.P124R	SNX31_uc011lhb.1_Missense_Mutation_p.P25R	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	124					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)											0.564315	456.418579	457.286108	136	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101629909	101629909	15401	8	G	C	C	C	559	43	SNX31	3	3
CSMD3	114788	broad.mit.edu	37	8	113317142	113317142	+	Missense_Mutation	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113317142C>T	uc003ynu.2	-	c.8074G>A	c.(8074-8076)GTT>ATT	p.V2692I	CSMD3_uc003yns.2_Missense_Mutation_p.V1894I|CSMD3_uc003ynt.2_Missense_Mutation_p.V2652I|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2692	Extracellular (Potential).|Sushi 16.					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)			0.515152	45.106744	45.111128	17	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113317142	113317142	4087	8	C	T	T	T	221	17	CSMD3	2	2
MRPL13	28998	broad.mit.edu	37	8	121457313	121457313	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121457313G>A	uc003ypa.2	-	c.22C>T	c.(22-24)CCC>TCC	p.P8S	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.2_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	8					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)	1	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)											0.130802	38.504915	69.811352	31	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121457313	121457313	10171	8	G	A	A	A	546	42	MRPL13	2	2
TG	7038	broad.mit.edu	37	8	133984064	133984064	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133984064G>A	uc003ytw.2	+	c.6001G>A	c.(6001-6003)GAT>AAT	p.D2001N	TG_uc010mdw.2_Missense_Mutation_p.D760N|TG_uc011ljb.1_Missense_Mutation_p.D370N|TG_uc011ljc.1_Missense_Mutation_p.D155N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2001	Type IIIB.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.183673	64.568889	83.021303	36	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133984064	133984064	16341	8	G	A	A	A	481	37	TG	1	1
COL22A1	169044	broad.mit.edu	37	8	139635992	139635992	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139635992C>A	uc003yvd.2	-	c.3754G>T	c.(3754-3756)GGT>TGT	p.G1252C	COL22A1_uc011ljo.1_Missense_Mutation_p.G532C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1252	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.28479	436.809953	462.467655	176	442	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139635992	139635992	3819	8	C	A	A	A	286	22	COL22A1	2	2
CYHR1	50626	broad.mit.edu	37	8	145689869	145689869	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145689869G>A	uc003zcv.2	-	c.220C>T	c.(220-222)CCC>TCC	p.P74S	CYHR1_uc003zcw.2_Missense_Mutation_p.P74S|CYHR1_uc003zcx.2_Missense_Mutation_p.P74S|CYHR1_uc003zcy.2_Missense_Mutation_p.P74S|KIFC2_uc003zcz.2_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1 isoform 1	74	RING-type; degenerate.					perinuclear region of cytoplasm	zinc ion binding				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)											0.11465	17.731616	40.719656	18	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145689869	145689869	4305	8	G	A	A	A	533	41	CYHR1	2	2
HR	55806	broad.mit.edu	37	8	21984809	21984809	+	Silent	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21984809T>A	uc003xas.2	-	c.1146A>T	c.(1144-1146)ACA>ACT	p.T382T	HR_uc003xat.2_Silent_p.T382T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	382							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)										0.57346	397.089853	398.082015	121	90	KEEP	---	---	---	---	capture		Silent	SNP	21984809	21984809	7639	8	T	A	A	A	652	51	HR	3	3
SNTG1	54212	broad.mit.edu	37	8	51363265	51363265	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51363265G>T	uc010lxy.1	+	c.339G>T	c.(337-339)GTG>GTT	p.V113V	SNTG1_uc003xqs.1_Silent_p.V113V|SNTG1_uc010lxz.1_Silent_p.V113V|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	113	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.261538	37.739676	41.089446	17	48	KEEP	---	---	---	---	capture		Silent	SNP	51363265	51363265	15374	8	G	T	T	T	574	45	SNTG1	2	2
RB1CC1	9821	broad.mit.edu	37	8	53569771	53569771	+	Missense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53569771T>A	uc003xre.3	-	c.2618A>T	c.(2617-2619)GAA>GTA	p.E873V	RB1CC1_uc003xrf.3_Missense_Mutation_p.E873V	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	873	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.185185	34.371222	44.512331	20	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53569771	53569771	13560	8	T	A	A	A	806	62	RB1CC1	3	3
FAM110B	90362	broad.mit.edu	37	8	59059080	59059080	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59059080G>T	uc003xtj.1	+	c.291G>T	c.(289-291)ACG>ACT	p.T97T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	97						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)												0.355263	75.661904	77.038968	27	49	KEEP	---	---	---	---	capture		Silent	SNP	59059080	59059080	5594	8	G	T	T	T	483	38	FAM110B	1	1
YTHDF3	253943	broad.mit.edu	37	8	64098921	64098921	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:64098921T>C	uc003xuy.2	+	c.352T>C	c.(352-354)TTT>CTT	p.F118L	YTHDF3_uc010lys.2_Missense_Mutation_p.F62L|YTHDF3_uc003xuz.2_Missense_Mutation_p.F62L|YTHDF3_uc003xva.2_Missense_Mutation_p.F62L|YTHDF3_uc011len.1_Missense_Mutation_p.F62L	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	118											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)											0.539216	204.831437	204.968096	55	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64098921	64098921	18083	8	T	C	C	C	673	52	YTHDF3	4	4
ZFHX4	79776	broad.mit.edu	37	8	77620022	77620022	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77620022G>T	uc003yav.2	+	c.2754G>T	c.(2752-2754)CAG>CAT	p.Q918H	ZFHX4_uc003yat.1_Missense_Mutation_p.Q918H|ZFHX4_uc003yau.1_Missense_Mutation_p.Q944H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q918H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	918	C2H2-type 5.				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)											0.433962	69.116666	69.318218	23	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77620022	77620022	18223	8	G	T	T	T	464	36	ZFHX4	2	2
ATP6V0D2	245972	broad.mit.edu	37	8	87126054	87126054	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87126054G>T	uc003ydp.1	+	c.247G>T	c.(247-249)GAG>TAG	p.E83*		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	83					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0														0.261538	239.825298	259.933535	102	288	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87126054	87126054	1193	8	G	T	T	T	585	45	ATP6V0D2	5	2
KIAA1529	57653	broad.mit.edu	37	9	100133895	100133895	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100133895G>T	uc011lut.1	+	c.5056G>T	c.(5056-5058)GGC>TGC	p.G1686C	KIAA1529_uc004axe.1_Missense_Mutation_p.G1492C|KIAA1529_uc004axg.1_Missense_Mutation_p.G1547C|KIAA1529_uc004axh.1_Non-coding_Transcript|KIAA1529_uc011luw.1_Missense_Mutation_p.G640C	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)	6		Acute lymphoblastic leukemia(62;0.154)												0.735294	80.186399	81.885858	25	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100133895	100133895	8549	9	G	T	T	T	611	47	KIAA1529	2	2
ASTN2	23245	broad.mit.edu	37	9	119582987	119582987	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119582987C>A	uc004bjs.1	-	c.2116G>T	c.(2116-2118)GGC>TGC	p.G706C	ASTN2_uc004bjr.1_Missense_Mutation_p.G702C|ASTN2_uc004bjt.1_Missense_Mutation_p.G655C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	706	Extracellular (Potential).|EGF-like 3.					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.567568	63.679274	63.826836	21	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119582987	119582987	1084	9	C	A	A	A	273	21	ASTN2	2	2
ASB6	140459	broad.mit.edu	37	9	132404236	132404236	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132404236G>T	uc004byf.1	-	c.43C>A	c.(43-45)CAG>AAG	p.Q15K	ASB6_uc004bye.1_5'Flank|ASB6_uc004byg.1_Missense_Mutation_p.Q15K|ASB6_uc011mbt.1_5'UTR|ASB6_uc010myx.1_Missense_Mutation_p.Q15K	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	15					intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)												0.695652	47.20328	47.987308	16	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132404236	132404236	1045	9	G	T	T	T	611	47	ASB6	2	2
IFNA10	3446	broad.mit.edu	37	9	21206911	21206911	+	Silent	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21206911G>A	uc003zoq.1	-	c.186C>T	c.(184-186)CCC>CCT	p.P62P	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)										0.553571	200.765116	201.04641	62	50	KEEP	---	---	---	---	capture		Silent	SNP	21206911	21206911	7833	9	G	A	A	A	548	43	IFNA10	2	2
AQP3	360	broad.mit.edu	37	9	33443783	33443783	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33443783G>T	uc003zsx.2	-	c.216C>A	c.(214-216)CTC>CTA	p.L72L	SUGT1P1_uc010mjq.1_Intron|AQP3_uc003zsv.1_Silent_p.L72L|AQP3_uc003zsw.2_5'Flank|AQP3_uc010mju.2_Silent_p.L72L	NM_004925	NP_004916	Q92482	AQP3_HUMAN	aquaporin 3	72	Helical; (Potential).				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm|integral to membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)										0.391304	47.331779	47.810097	18	28	KEEP	---	---	---	---	capture		Silent	SNP	33443783	33443783	838	9	G	T	T	T	574	45	AQP3	2	2
MELK	9833	broad.mit.edu	37	9	36633175	36633175	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36633175T>C	uc003zzn.2	+	c.812T>C	c.(811-813)GTT>GCT	p.V271A	MELK_uc011lpm.1_Missense_Mutation_p.V140A|MELK_uc011lpn.1_Missense_Mutation_p.V271A|MELK_uc011lpo.1_Missense_Mutation_p.V77A|MELK_uc010mll.2_Missense_Mutation_p.V239A|MELK_uc011lpp.1_Missense_Mutation_p.V223A|MELK_uc010mlm.2_Missense_Mutation_p.V200A|MELK_uc011lpq.1_Missense_Mutation_p.V77A|MELK_uc011lpr.1_Missense_Mutation_p.V200A|MELK_uc011lps.1_Missense_Mutation_p.V191A	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	271					protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(1)|skin(1)	5		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			Ovarian(82;980 1317 7225 14391 18624)				394				0.576471	192.292167	192.726291	49	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36633175	36633175	9859	9	T	C	C	C	780	60	MELK	4	4
ZCCHC7	84186	broad.mit.edu	37	9	37126466	37126466	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37126466A>T	uc003zzq.2	+	c.137A>T	c.(136-138)GAT>GTT	p.D46V	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.D45V|ZCCHC7_uc010mlt.2_Missense_Mutation_p.D45V|ZCCHC7_uc003zzs.1_Missense_Mutation_p.D45V	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	46							nucleic acid binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.0137)										0.631579	346.423626	349.023519	108	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37126466	37126466	18181	9	A	T	T	T	156	12	ZCCHC7	3	3
UHRF2	115426	broad.mit.edu	37	9	6506175	6506175	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6506175G>A	uc003zjy.2	+	c.2405G>A	c.(2404-2406)CGA>CAA	p.R802Q	UHRF2_uc003zjz.2_Non-coding_Transcript|UHRF2_uc003zkb.2_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	802					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)										0.258824	53.707875	58.18885	22	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6506175	6506175	17528	9	G	A	A	A	481	37	UHRF2	1	1
NTRK2	4915	broad.mit.edu	37	9	87635209	87635209	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:87635209G>C	uc004anz.1	+	c.2261G>C	c.(2260-2262)AGC>ACC	p.S754T	NTRK2_uc004aoa.1_Missense_Mutation_p.S738T	NM_006180	NP_006171	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	738	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(1)|liver(1)|central_nervous_system(1)|skin(1)	12										348	TSP Lung(25;0.17)			0.493902	282.547185	282.552843	81	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87635209	87635209	11112	9	G	C	C	C	442	34	NTRK2	3	3
GLA	2717	broad.mit.edu	37	X	100662855	100662855	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100662855C>A	uc004ehl.1	-	c.37G>T	c.(37-39)GCG>TCG	p.A13S	HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.A13S	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	13			Missing (in FD; has 4% of wild-type activity).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	alpha-galactosidase activity|cation binding|protein homodimerization activity|receptor binding				0					Agalsidase beta(DB00103)	Colon(193;776 2816 31189 44474)								0.118143	37.272438	71.193433	28	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100662855	100662855	6694	23	C	A	A	A	351	27	GLA	1	1
BHLHB9	80823	broad.mit.edu	37	X	102003951	102003951	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102003951G>T	uc010nog.2	+	c.28G>T	c.(28-30)GCC>TCC	p.A10S	BHLHB9_uc011mrq.1_Missense_Mutation_p.A10S|BHLHB9_uc011mrr.1_Missense_Mutation_p.A10S|BHLHB9_uc011mrs.1_Missense_Mutation_p.A10S|BHLHB9_uc011mrt.1_Missense_Mutation_p.A10S|BHLHB9_uc004ejo.2_Missense_Mutation_p.A10S|BHLHB9_uc011mru.1_Missense_Mutation_p.A10S|BHLHB9_uc011mrv.1_Missense_Mutation_p.A10S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	10						cytoplasm|nucleus	binding			ovary(2)	2														0.165563	37.270001	53.327742	25	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102003951	102003951	1445	23	G	T	T	T	442	34	BHLHB9	2	2
TEX13A	56157	broad.mit.edu	37	X	104463939	104463939	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104463939C>A	uc004ema.2	-	c.937G>T	c.(937-939)GAC>TAC	p.D313Y	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q313H	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	313						intracellular	zinc ion binding			ovary(2)	2														0.4	92.755945	93.549704	36	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104463939	104463939	16303	23	C	A	A	A	415	32	TEX13A	2	2
TRPC5	7224	broad.mit.edu	37	X	111090456	111090456	+	Missense_Mutation	SNP	A	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111090456A>G	uc004epl.1	-	c.1586T>C	c.(1585-1587)CTA>CCA	p.L529P	TRPC5_uc004epm.1_Missense_Mutation_p.L529P	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	529	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.37377	396.685427	400.948684	114	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111090456	111090456	17133	23	A	G	G	G	195	15	TRPC5	4	4
ARHGAP6	395	broad.mit.edu	37	X	11187744	11187744	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11187744G>T	uc004cup.1	-	c.1690C>A	c.(1690-1692)CAC>AAC	p.H564N	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.H564N|ARHGAP6_uc004cum.1_Missense_Mutation_p.H361N|ARHGAP6_uc004cun.1_Missense_Mutation_p.H384N|ARHGAP6_uc010neb.1_Missense_Mutation_p.H386N|ARHGAP6_uc011mif.1_Missense_Mutation_p.H361N	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	564	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2														0.59589	276.155427	277.332502	87	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11187744	11187744	901	23	G	T	T	T	598	46	ARHGAP6	2	2
KIAA1210	57481	broad.mit.edu	37	X	118221891	118221891	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118221891G>T	uc004era.3	-	c.3302C>A	c.(3301-3303)TCT>TAT	p.S1101Y		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1101										ovary(4)|skin(1)	5														0.204819	169.704045	203.292578	85	330	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118221891	118221891	8522	23	G	T	T	T	429	33	KIAA1210	2	2
ZBTB33	10009	broad.mit.edu	37	X	119388004	119388004	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119388004C>A	uc004esn.1	+	c.734C>A	c.(733-735)CCT>CAT	p.P245H	ZBTB33_uc010nqm.1_Missense_Mutation_p.P245H	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	245					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3														0.231884	73.62209	82.714198	32	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119388004	119388004	18122	23	C	A	A	A	312	24	ZBTB33	2	2
THOC2	57187	broad.mit.edu	37	X	122765637	122765637	+	Nonsense_Mutation	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122765637T>A	uc004etu.2	-	c.2383A>T	c.(2383-2385)AAG>TAG	p.K795*	THOC2_uc011muh.1_Nonsense_Mutation_p.K720*	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	795					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3														0.189845	160.657921	201.448273	86	367	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122765637	122765637	16393	23	T	A	A	A	832	64	THOC2	5	3
ODZ1	10178	broad.mit.edu	37	X	123518550	123518550	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123518550G>T	uc010nqy.2	-	c.6231C>A	c.(6229-6231)GTC>GTA	p.V2077V	ODZ1_uc011muj.1_Silent_p.V2076V|ODZ1_uc004euj.2_Silent_p.V2070V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2070	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				0.179104	88.466698	114.416959	48	220	KEEP	---	---	---	---	capture		Silent	SNP	123518550	123518550	11239	23	G	T	T	T	418	33	ODZ1	2	2
ODZ1	10178	broad.mit.edu	37	X	123631016	123631016	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123631016C>A	uc010nqy.2	-	c.3545G>T	c.(3544-3546)TGC>TTC	p.C1182F	ODZ1_uc011muj.1_Missense_Mutation_p.C1181F|ODZ1_uc004euj.2_Missense_Mutation_p.C1182F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1182	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				0.181818	25.296644	32.628969	14	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123631016	123631016	11239	23	C	A	A	A	325	25	ODZ1	2	2
OCRL	4952	broad.mit.edu	37	X	128692825	128692825	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128692825G>T	uc004euq.2	+	c.569G>T	c.(568-570)CGT>CTT	p.R190L	OCRL_uc004eur.2_Missense_Mutation_p.R190L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	190					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.15625	48.979822	67.020278	25	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128692825	128692825	11228	23	G	T	T	T	520	40	OCRL	1	1
IGSF1	3547	broad.mit.edu	37	X	130416668	130416668	+	Silent	SNP	C	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130416668C>G	uc004ewd.2	-	c.996G>C	c.(994-996)GTG>GTC	p.V332V	IGSF1_uc004ewe.3_Silent_p.V321V|IGSF1_uc004ewf.2_Silent_p.V312V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	332	Ig-like C2-type 4.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.125749	31.458454	54.296815	21	146	KEEP	---	---	---	---	capture		Silent	SNP	130416668	130416668	7897	23	C	G	G	G	262	21	IGSF1	3	3
OR13H1	347468	broad.mit.edu	37	X	130678554	130678554	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130678554G>T	uc011muw.1	+	c.507G>T	c.(505-507)GGG>GGT	p.G169G	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)													0.312896	367.303836	382.058671	148	325	KEEP	---	---	---	---	capture		Silent	SNP	130678554	130678554	11349	23	G	T	T	T	548	43	OR13H1	2	2
GPC4	2239	broad.mit.edu	37	X	132458435	132458435	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132458435T>C	uc004exc.1	-	c.449A>G	c.(448-450)TAC>TGC	p.Y150C	GPC4_uc011mvg.1_Missense_Mutation_p.Y80C	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	150					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.185736	342.141111	404.380889	125	548	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132458435	132458435	6874	23	T	C	C	C	741	57	GPC4	4	4
GPR112	139378	broad.mit.edu	37	X	135426945	135426945	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135426945G>T	uc004ezu.1	+	c.1080G>T	c.(1078-1080)ATG>ATT	p.M360I	GPR112_uc010nsb.1_Missense_Mutation_p.M155I|GPR112_uc010nsc.1_Missense_Mutation_p.M127I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	360	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.33913	105.179026	107.815414	39	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135426945	135426945	6903	23	G	T	T	T	611	47	GPR112	2	2
VGLL1	51442	broad.mit.edu	37	X	135618294	135618294	+	Missense_Mutation	SNP	A	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135618294A>T	uc004ezy.2	+	c.115A>T	c.(115-117)AGC>TGC	p.S39C		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity|transcription regulator activity				0	Acute lymphoblastic leukemia(192;0.000127)													0.119171	27.086117	54.570007	23	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135618294	135618294	17725	23	A	T	T	T	91	7	VGLL1	3	3
ARHGEF6	9459	broad.mit.edu	37	X	135827428	135827428	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135827428G>T	uc004fab.2	-	c.413C>A	c.(412-414)GCA>GAA	p.A138E	ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	138					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)													0.357751	586.269484	596.737207	210	377	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135827428	135827428	925	23	G	T	T	T	598	46	ARHGEF6	2	2
MCF2	4168	broad.mit.edu	37	X	138708396	138708396	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138708396C>A	uc011mwo.1	-	c.823G>T	c.(823-825)GAG>TAG	p.E275*	MCF2_uc004fau.2_Nonsense_Mutation_p.E215*|MCF2_uc004fav.2_Nonsense_Mutation_p.E215*|MCF2_uc011mwl.1_Nonsense_Mutation_p.E176*|MCF2_uc010nsh.1_Nonsense_Mutation_p.E215*|MCF2_uc011mwm.1_Nonsense_Mutation_p.E176*|MCF2_uc011mwn.1_Nonsense_Mutation_p.E360*|MCF2_uc004faw.2_Nonsense_Mutation_p.E275*	NM_001099855	NP_001093325	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	215					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)									693				0.170213	41.723567	56.225516	24	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	138708396	138708396	9767	23	C	A	A	A	390	30	MCF2	5	2
SPANXN4	441525	broad.mit.edu	37	X	142121947	142121947	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142121947C>A	uc004fbv.3	+	c.215C>A	c.(214-216)CCT>CAT	p.P72H		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	72										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.444444	10.998259	11.022506	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142121947	142121947	15501	23	C	A	A	A	312	24	SPANXN4	2	2
HMGB3	3149	broad.mit.edu	37	X	150154608	150154608	+	Nonsense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150154608G>T	uc004fep.2	+	c.235G>T	c.(235-237)GGA>TGA	p.G79*	HMGB3_uc004feq.2_Nonsense_Mutation_p.G79*|HMGB3_uc004fer.2_Nonsense_Mutation_p.G79*	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	79	HMG box 1.				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.434783	87.236681	87.493128	30	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150154608	150154608	7518	23	G	T	T	T	611	47	HMGB3	5	2
MAGEA4	4103	broad.mit.edu	37	X	151092809	151092809	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151092809G>A	uc004fez.2	+	c.673G>A	c.(673-675)GAG>AAG	p.E225K	MAGEA4_uc004ffa.2_Missense_Mutation_p.E225K|MAGEA4_uc004ffb.2_Missense_Mutation_p.E225K|MAGEA4_uc004ffc.2_Missense_Mutation_p.E225K|MAGEA4_uc004ffd.2_Missense_Mutation_p.E225K	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	225	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.223077	131.926258	150.254464	58	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151092809	151092809	9547	23	G	A	A	A	533	41	MAGEA4	2	2
GABRQ	55879	broad.mit.edu	37	X	151821480	151821480	+	Silent	SNP	C	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151821480C>T	uc004ffp.1	+	c.1635C>T	c.(1633-1635)GCC>GCT	p.A545A		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	545						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.342657	133.318357	136.452272	49	94	KEEP	---	---	---	---	capture		Silent	SNP	151821480	151821480	6426	23	C	T	T	T	262	21	GABRQ	2	2
MAGEA6	4105	broad.mit.edu	37	X	151869629	151869629	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151869629G>A	uc004ffq.1	+	c.319G>A	c.(319-321)GCA>ACA	p.A107T	MAGEA6_uc004ffr.1_Missense_Mutation_p.A107T|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	107							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.35	235.21088	239.982639	84	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151869629	151869629	9549	23	G	A	A	A	442	34	MAGEA6	2	2
ATP2B3	492	broad.mit.edu	37	X	152826336	152826336	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152826336C>A	uc004fht.1	+	c.3042C>A	c.(3040-3042)TTC>TTA	p.F1014L	ATP2B3_uc004fhs.1_Missense_Mutation_p.F1014L|ATP2B3_uc010nuf.1_Missense_Mutation_p.F37L|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1014	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.2	67.330251	79.838711	30	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152826336	152826336	1160	23	C	A	A	A	402	31	ATP2B3	1	1
PLXNB3	5365	broad.mit.edu	37	X	153039400	153039400	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153039400C>A	uc010nuk.2	+	c.3435C>A	c.(3433-3435)GTC>GTA	p.V1145V	PLXNB3_uc004fii.2_Silent_p.V1122V|PLXNB3_uc011mzd.1_Silent_p.V761V|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 2	1122	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.208092	68.602521	82.26353	36	137	KEEP	---	---	---	---	capture		Silent	SNP	153039400	153039400	12551	23	C	A	A	A	405	32	PLXNB3	2	2
AVPR2	554	broad.mit.edu	37	X	153171598	153171598	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153171598T>G	uc004fjh.3	+	c.638T>G	c.(637-639)GTG>GGG	p.V213G	AVPR2_uc004fjg.3_Missense_Mutation_p.V2G|AVPR2_uc004fji.2_Missense_Mutation_p.V213G	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	213	Helical; Name=5; (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	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)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.23871	98.225748	107.978729	37	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153171598	153171598	1254	23	T	G	G	G	767	59	AVPR2	4	4
HCFC1	3054	broad.mit.edu	37	X	153216379	153216379	+	Missense_Mutation	SNP	T	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153216379T>G	uc004fjp.2	-	c.5588A>C	c.(5587-5589)AAG>ACG	p.K1863T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1863					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.141653	130.463434	204.068259	84	509	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153216379	153216379	7273	23	T	G	G	G	728	56	HCFC1	4	4
HCFC1	3054	broad.mit.edu	37	X	153217516	153217516	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153217516G>T	uc004fjp.2	-	c.5036C>A	c.(5035-5037)GCC>GAC	p.A1679D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1679					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.3	16.44178	17.156775	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153217516	153217516	7273	23	G	T	T	T	546	42	HCFC1	2	2
IRAK1	3654	broad.mit.edu	37	X	153278822	153278822	+	Silent	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153278822G>T	uc004fjs.1	-	c.1602C>A	c.(1600-1602)GCC>GCA	p.A534A	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Silent_p.A455A|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	534					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription activator activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|breast(1)|central_nervous_system(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)									83				0.355263	72.203866	73.606353	27	49	KEEP	---	---	---	---	capture		Silent	SNP	153278822	153278822	8124	23	G	T	T	T	496	39	IRAK1	1	1
F8	2157	broad.mit.edu	37	X	154158632	154158632	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154158632G>T	uc004fmt.2	-	c.3433C>A	c.(3433-3435)CCA>ACA	p.P1145T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1145	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.189189	78.208956	98.286113	42	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154158632	154158632	5544	23	G	T	T	T	533	41	F8	2	2
CTPS2	56474	broad.mit.edu	37	X	16635339	16635339	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16635339G>T	uc004cxk.2	-	c.1480C>A	c.(1480-1482)CAG>AAG	p.Q494K	CTPS2_uc004cxl.2_Missense_Mutation_p.Q494K|CTPS2_uc004cxm.2_Missense_Mutation_p.Q494K	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	494	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)													0.215859	108.912923	125.875003	49	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16635339	16635339	4182	23	G	T	T	T	598	46	CTPS2	2	2
CTPS2	56474	broad.mit.edu	37	X	16635352	16635352	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16635352G>C	uc004cxk.2	-	c.1467C>G	c.(1465-1467)ATC>ATG	p.I489M	CTPS2_uc004cxl.2_Missense_Mutation_p.I489M|CTPS2_uc004cxm.2_Missense_Mutation_p.I489M	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	489	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)													0.21	128.441911	144.000891	42	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16635352	16635352	4182	23	G	C	C	C	577	45	CTPS2	3	3
BEND2	139105	broad.mit.edu	37	X	18230695	18230695	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18230695T>C	uc004cyj.3	-	c.482A>G	c.(481-483)TAT>TGT	p.Y161C	BEND2_uc010nfb.2_Missense_Mutation_p.Y161C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	161										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.63964	267.062489	268.971009	71	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18230695	18230695	1421	23	T	C	C	C	637	49	BEND2	4	4
CXorf38	159013	broad.mit.edu	37	X	40498351	40498351	+	Silent	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:40498351T>C	uc004dew.2	-	c.381A>G	c.(379-381)AAA>AAG	p.K127K	CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_Silent_p.K8K|CXorf38_uc010nhd.2_Non-coding_Transcript	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	127										ovary(1)	1														0.5625	199.862067	200.189099	54	42	KEEP	---	---	---	---	capture		Silent	SNP	40498351	40498351	4268	23	T	C	C	C	777	60	CXorf38	4	4
TBC1D25	4943	broad.mit.edu	37	X	48399786	48399786	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48399786C>A	uc011mmb.1	+	c.201C>A	c.(199-201)CTC>CTA	p.L67L	TBC1D25_uc004dka.1_Silent_p.L63L|TBC1D25_uc011mly.1_5'UTR|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	63						intracellular	Rab GTPase activator activity			ovary(1)	1														0.230435	122.452799	137.775898	53	177	KEEP	---	---	---	---	capture		Silent	SNP	48399786	48399786	16137	23	C	A	A	A	392	31	TBC1D25	1	1
PIM2	11040	broad.mit.edu	37	X	48771797	48771797	+	Missense_Mutation	SNP	G	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48771797G>C	uc004dls.2	-	c.647C>G	c.(646-648)GCA>GGA	p.A216G	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.2_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	serine/threonine protein kinase pim-2	216	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|response to virus		ATP binding|protein serine/threonine kinase activity			lung(2)|stomach(1)	3										33				0.22807	34.18904	38.124361	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48771797	48771797	12352	23	G	C	C	C	598	46	PIM2	3	3
WNK3	65267	broad.mit.edu	37	X	54280510	54280510	+	Splice_Site_SNP	SNP	T	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54280510T>A	uc004dtc.1	-	c.2251_splice	c.e13-1	p.V751_splice	WNK3_uc004dtd.1_Splice_Site_SNP_p.V751_splice	NM_020922	NP_065973			WNK lysine deficient protein kinase 3 isoform 1						intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.262009	165.099677	176.831852	60	169	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54280510	54280510	17953	23	T	A	A	A	715	55	WNK3	5	3
ZXDA	7789	broad.mit.edu	37	X	57934538	57934538	+	Nonsense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:57934538C>A	uc004dve.2	-	c.2317G>T	c.(2317-2319)GGA>TGA	p.G773*		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	773					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.225166	79.566226	90.047852	34	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57934538	57934538	18855	23	C	A	A	A	273	21	ZXDA	5	2
YIPF6	286451	broad.mit.edu	37	X	67733217	67733217	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67733217C>A	uc004dwy.2	+	c.235C>A	c.(235-237)CCA>ACA	p.P79T	YIPF6_uc011mph.1_Missense_Mutation_p.P36T	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	79						endoplasmic reticulum|integral to membrane					0														0.134328	11.828524	20.518958	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67733217	67733217	18065	23	C	A	A	A	286	22	YIPF6	2	2
STARD8	9754	broad.mit.edu	37	X	67938390	67938390	+	Missense_Mutation	SNP	G	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67938390G>A	uc004dxb.2	+	c.1634G>A	c.(1633-1635)GGG>GAG	p.G545E	STARD8_uc004dxa.2_Missense_Mutation_p.G465E|STARD8_uc004dxc.3_Missense_Mutation_p.G465E	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	465					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.243243	23.562283	25.781735	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67938390	67938390	15782	23	G	A	A	A	559	43	STARD8	2	2
EFNB1	1947	broad.mit.edu	37	X	68059566	68059566	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68059566C>A	uc004dxe.2	+	c.466C>A	c.(466-468)CGC>AGC	p.R156S	EFNB1_uc004dxd.3_Missense_Mutation_p.R156S	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	156	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0														0.22807	34.347272	38.212587	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68059566	68059566	5143	23	C	A	A	A	247	19	EFNB1	1	1
ARR3	407	broad.mit.edu	37	X	69496556	69496556	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69496556C>A	uc004dyb.2	+	c.443C>A	c.(442-444)GCT>GAT	p.A148D	ARR3_uc004dya.2_Missense_Mutation_p.A148D	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	148					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4														0.208955	29.10783	34.367211	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69496556	69496556	997	23	C	A	A	A	364	28	ARR3	2	2
ATP7A	538	broad.mit.edu	37	X	77284869	77284869	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77284869G>T	uc004ecx.3	+	c.3039G>T	c.(3037-3039)ATG>ATT	p.M1013I		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1013	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0														0.258216	133.3049	144.474664	55	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77284869	77284869	1209	23	G	T	T	T	611	47	ATP7A	2	2
BRWD3	254065	broad.mit.edu	37	X	79975054	79975054	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79975054G>T	uc004edt.2	-	c.1978C>A	c.(1978-1980)CTG>ATG	p.L660M	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Missense_Mutation_p.L256M|BRWD3_uc004edp.2_Missense_Mutation_p.L489M|BRWD3_uc004edq.2_Missense_Mutation_p.L256M|BRWD3_uc010nmj.1_Missense_Mutation_p.L256M|BRWD3_uc004edr.2_Missense_Mutation_p.L330M|BRWD3_uc004eds.2_Missense_Mutation_p.L256M|BRWD3_uc004edu.2_Missense_Mutation_p.L330M|BRWD3_uc004edv.2_Missense_Mutation_p.L256M|BRWD3_uc004edw.2_Missense_Mutation_p.L256M|BRWD3_uc004edx.2_Missense_Mutation_p.L256M|BRWD3_uc004edy.2_Missense_Mutation_p.L256M|BRWD3_uc004edz.2_Missense_Mutation_p.L330M|BRWD3_uc004eea.2_Missense_Mutation_p.L330M|BRWD3_uc004eeb.2_Missense_Mutation_p.L256M	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	660										ovary(4)	4														0.2625	50.336077	54.420294	21	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79975054	79975054	1557	23	G	T	T	T	451	35	BRWD3	2	2
HDX	139324	broad.mit.edu	37	X	83695583	83695583	+	Missense_Mutation	SNP	T	C	C			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83695583T>C	uc004eek.1	-	c.1262A>G	c.(1261-1263)AAC>AGC	p.N421S	HDX_uc011mqv.1_Missense_Mutation_p.N421S|HDX_uc004eel.1_Missense_Mutation_p.N363S	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	421					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						Pancreas(53;231 1169 36156 43751 51139)								0.12	10.514646	17.597223	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83695583	83695583	7309	23	T	C	C	C	780	60	HDX	4	4
POF1B	79983	broad.mit.edu	37	X	84562228	84562228	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84562228G>T	uc004ees.2	-	c.1105C>A	c.(1105-1107)CAA>AAA	p.Q369K	POF1B_uc004eer.2_Missense_Mutation_p.Q369K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	369	Potential.						actin binding				0														0.186047	15.171612	19.14709	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84562228	84562228	12610	23	G	T	T	T	585	45	POF1B	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133670	91133670	+	Missense_Mutation	SNP	G	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133670G>T	uc004efk.1	+	c.2431G>T	c.(2431-2433)GTC>TTC	p.V811F	PCDH11X_uc004efl.1_Missense_Mutation_p.V811F|PCDH11X_uc004efo.1_Missense_Mutation_p.V811F|PCDH11X_uc010nmv.1_Missense_Mutation_p.V811F|PCDH11X_uc004efm.1_Missense_Mutation_p.V811F|PCDH11X_uc004efn.1_Missense_Mutation_p.V811F|PCDH11X_uc004efh.1_Missense_Mutation_p.V811F|PCDH11X_uc004efj.1_Missense_Mutation_p.V811F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	811	Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.137143	38.17324	60.477334	24	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133670	91133670	11928	23	G	T	T	T	624	48	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134128	91134129	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134128_91134129CC>AA	uc004efk.1	+	c.2889_2890CC>AA	c.(2887-2892)ATCCAA>ATAAAA	p.Q964K	PCDH11X_uc004efl.1_Missense_Mutation_p.Q964K|PCDH11X_uc004efo.1_Missense_Mutation_p.Q964K|PCDH11X_uc010nmv.1_Missense_Mutation_p.Q964K|PCDH11X_uc004efm.1_Missense_Mutation_p.Q964K|PCDH11X_uc004efn.1_Missense_Mutation_p.Q964K|PCDH11X_uc004efh.1_Missense_Mutation_p.Q964K|PCDH11X_uc004efj.1_Missense_Mutation_p.Q964K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	964	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.290429	214.256984	226.195063	88	215	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	91134128	91134129	11928	23	CC	AA	AA	AA	382	30	PCDH11X	2	2
SRPX2	27286	broad.mit.edu	37	X	99920543	99920543	+	Silent	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99920543C>A	uc004egb.2	+	c.670C>A	c.(670-672)CGG>AGG	p.R224R		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	224	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.154472	29.939514	43.982511	19	104	KEEP	---	---	---	---	capture		Silent	SNP	99920543	99920543	15679	23	C	A	A	A	399	31	SRPX2	1	1
SYTL4	94121	broad.mit.edu	37	X	99956257	99956257	+	Missense_Mutation	SNP	C	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99956257C>A	uc004egd.3	-	c.395G>T	c.(394-396)GGT>GTT	p.G132V	SYTL4_uc010nnc.2_Missense_Mutation_p.G132V|SYTL4_uc004ege.3_Missense_Mutation_p.G132V|SYTL4_uc004egf.3_Missense_Mutation_p.G132V|SYTL4_uc004egg.3_Missense_Mutation_p.G132V	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	132					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.166667	23.121688	31.344462	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99956257	99956257	16006	23	C	A	A	A	234	18	SYTL4	2	2
PRDM4	11108	broad.mit.edu	37	12	108147700	108147700	+	Splice_Site_Del	DEL	C	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108147700_108147700delC	uc001tmp.2	-	c.331_splice	c.e4+1	p.G111_splice	PRDM4_uc001tmq.2_Splice_Site_Del	NM_012406	NP_036538			PR domain containing 4						cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			breast(1)	1														0.47			28	32		---	---	---	---	capture_indel		Splice_Site_Del	DEL	108147700	108147700	12901	12	C	-	-	-	234	18	PRDM4	5	5
LNX2	222484	broad.mit.edu	37	13	28143266	28143267	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28143266_28143267insGC	uc001url.3	-	c.554_555insGC	c.(553-555)GCAfs	p.A185fs	LNX2_uc001urm.1_Frame_Shift_Ins_p.A185fs	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	185							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)						288				0.35			144	271		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	28143266	28143267	9195	13	-	GC	GC	GC	704	55	LNX2	5	5
BEGAIN	57596	broad.mit.edu	37	14	101010278	101010278	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101010278_101010278delG	uc010txa.1	-	c.268_268delC	c.(268-270)CGTfs	p.R90fs	BEGAIN_uc001yhp.2_Frame_Shift_Del_p.R26fs|BEGAIN_uc001yhq.2_Frame_Shift_Del_p.R90fs	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	90						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				NSCLC(159;1889 2010 9965 27479 40101)								0.39			12	19		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	101010278	101010278	1420	14	G	-	-	-	494	38	BEGAIN	5	5
BRF1	2972	broad.mit.edu	37	14	105692428	105692429	+	Frame_Shift_Ins	INS	-	A	A			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105692428_105692429insA	uc001yqp.2	-	c.1025_1026insT	c.(1024-1026)GGCfs	p.G342fs	BRF1_uc010tyo.1_Frame_Shift_Ins_p.G227fs|BRF1_uc010typ.1_Frame_Shift_Ins_p.G227fs|BRF1_uc001yql.2_Frame_Shift_Ins_p.G138fs|BRF1_uc001yqo.2_Frame_Shift_Ins_p.G104fs|BRF1_uc010axg.1_Frame_Shift_Ins_p.G315fs|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	342					regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	RNA polymerase III transcription factor activity|transcription activator activity|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)										0.40			58	87		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	105692428	105692429	1541	14	-	A	A	A	535	42	BRF1	5	5
G2E3	55632	broad.mit.edu	37	14	31074781	31074782	+	Frame_Shift_Ins	INS	-	T	T			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31074781_31074782insT	uc001wqk.2	+	c.1081_1082insT	c.(1081-1083)ACTfs	p.T361fs	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Frame_Shift_Ins_p.T315fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	361					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3														0.36			8	14		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	31074781	31074782	6391	14	-	T	T	T	26	2	G2E3	5	5
PSKH1	5681	broad.mit.edu	37	16	67961404	67961405	+	Frame_Shift_Ins	INS	-	G	G			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67961404_67961405insG	uc002euv.2	+	c.1134_1135insG	c.(1132-1137)CGTGCCfs	p.R378fs		NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	378_379					protein phosphorylation	endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)						27				0.43			40	53		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	67961404	67961405	13117	16	-	G	G	G	756	59	PSKH1	5	5
FLG	2312	broad.mit.edu	37	1	152280188	152280188	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152280188_152280188delG	uc001ezu.1	-	c.7174_7174delC	c.(7174-7176)CATfs	p.H2392fs		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2392	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.36			94	164		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	152280188	152280188	6160	1	G	-	-	-	611	47	FLG	5	5
SUCLG1	8802	broad.mit.edu	37	2	84668395	84668395	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:84668395_84668395delC	uc002son.2	-	c.507_507delG	c.(505-507)GGGfs	p.G169fs	SUCLG1_uc010ysk.1_Frame_Shift_Del_p.G156fs	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	169					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	Ovarian(48;203 1101 37206 40305 50790)								0.33			52	105		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	84668395	84668395	15884	2	C	-	-	-	327	26	SUCLG1	5	5
LRIG1	26018	broad.mit.edu	37	3	66550812	66550812	+	Frame_Shift_Del	DEL	C	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:66550812_66550812delC	uc003dmx.2	-	c.20_20delG	c.(19-21)GGAfs	p.G7fs	LRIG1_uc010hoa.2_Frame_Shift_Del_p.G7fs	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	7						integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)										0.78			7	2		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	66550812	66550812	9317	3	C	-	-	-	390	30	LRIG1	5	5
FOXP1	27086	broad.mit.edu	37	3	71090529	71090529	+	Frame_Shift_Del	DEL	T	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:71090529_71090529delT	uc003dol.2	-	c.819_819delA	c.(817-819)CCAfs	p.P273fs	FOXP1_uc003dom.2_Frame_Shift_Del_p.P197fs|FOXP1_uc003don.2_Non-coding_Transcript|FOXP1_uc003doo.2_Frame_Shift_Del_p.P273fs|FOXP1_uc003dop.2_Frame_Shift_Del_p.P273fs|FOXP1_uc003doq.1_Frame_Shift_Del_p.P272fs|FOXP1_uc003doi.2_Frame_Shift_Del_p.P173fs|FOXP1_uc003doj.2_Frame_Shift_Del_p.P173fs|FOXP1_uc003dok.2_Frame_Shift_Del_p.P86fs|FOXP1_uc003dor.1_Frame_Shift_Del_p.P51fs	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	273					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)						261				0.61			79	50		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	71090529	71090529	6272	3	T	-	-	-	756	59	FOXP1	5	5
LRFN2	57497	broad.mit.edu	37	6	40360309	40360309	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40360309_40360309delG	uc003oph.1	-	c.1743_1743delC	c.(1741-1743)GGCfs	p.G581fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	581	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.33			10	20		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	40360309	40360309	9311	6	G	-	-	-	483	38	LRFN2	5	5
C7orf51	222950	broad.mit.edu	37	7	100087052	100087052	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100087052_100087052delG	uc003uvd.1	+	c.1708_1708delG	c.(1708-1710)GGGfs	p.G570fs	C7orf51_uc003uve.1_Frame_Shift_Del_p.G352fs	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	570											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.30			32	74		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	100087052	100087052	2507	7	G	-	-	-	611	47	C7orf51	5	5
GRM8	2918	broad.mit.edu	37	7	126086394	126086394	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126086394_126086394delG	uc003vlr.2	-	c.2463_2463delC	c.(2461-2463)TCCfs	p.S821fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.S821fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	821	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.34			43	84		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	126086394	126086394	7082	7	G	-	-	-	600	47	GRM8	5	5
MXRA5	25878	broad.mit.edu	37	X	3242878	3242878	+	Frame_Shift_Del	DEL	G	-	-			TCGA-73-4670-01	TCGA-73-4670-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3242878_3242878delG	uc004crg.3	-	c.848_848delC	c.(847-849)CCTfs	p.P283fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	283						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.34			61	117		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3242878	3242878	10397	23	G	-	-	-	455	35	MXRA5	5	5
