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
SEC31B	25956	broad.mit.edu	37	10	102249075	102249075	+	Silent	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102249075G>C	uc001krc.1	-	c.3105C>G	c.(3103-3105)CCC>CCG	p.P1035P	SEC31B_uc010qpo.1_Silent_p.P1034P|SEC31B_uc001krd.1_Silent_p.P572P|SEC31B_uc001krf.1_Silent_p.P467P|SEC31B_uc001kre.1_Silent_p.P467P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)										0.25	24.359097	26.403323	9	27	KEEP	---	---	---	---	capture		Silent	SNP	102249075	102249075	14485	10	G	C	C	C	444	35	SEC31B	3	3
SMC3	9126	broad.mit.edu	37	10	112356170	112356170	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112356170C>T	uc001kze.2	+	c.1978C>T	c.(1978-1980)CAT>TAT	p.H660Y		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	660	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)										0.222222	83.028559	93.245449	32	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112356170	112356170	15282	10	C	T	T	T	273	21	SMC3	2	2
NRAP	4892	broad.mit.edu	37	10	115410292	115410292	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115410292C>T	uc001lal.3	-	c.688G>A	c.(688-690)GAG>AAG	p.E230K	NRAP_uc001laj.2_Missense_Mutation_p.E230K|NRAP_uc001lak.2_Missense_Mutation_p.E230K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	230	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.267442	65.183605	69.385253	23	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115410292	115410292	11043	10	C	T	T	T	416	32	NRAP	2	2
ATRNL1	26033	broad.mit.edu	37	10	117061553	117061553	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117061553C>G	uc001lcg.2	+	c.2818C>G	c.(2818-2820)CCT>GCT	p.P940A	ATRNL1_uc010qsm.1_Missense_Mutation_p.P115A|ATRNL1_uc010qsn.1_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	940	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.138211	32.492067	48.057029	17	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117061553	117061553	1226	10	C	G	G	G	299	23	ATRNL1	3	3
ATRNL1	26033	broad.mit.edu	37	10	117486760	117486760	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117486760A>T	uc001lcg.2	+	c.3798A>T	c.(3796-3798)CAA>CAT	p.Q1266H	ATRNL1_uc010qsm.1_Missense_Mutation_p.Q395H|ATRNL1_uc010qsn.1_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1266	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.269841	44.354225	47.360766	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117486760	117486760	1226	10	A	T	T	T	24	2	ATRNL1	3	3
KCNK18	338567	broad.mit.edu	37	10	118969187	118969187	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969187T>C	uc010qsr.1	+	c.532T>C	c.(532-534)TCC>CCC	p.S178P		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.174194	68.43239	83.958841	27	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118969187	118969187	8370	10	T	C	C	C	702	54	KCNK18	4	4
FRMD4A	55691	broad.mit.edu	37	10	13782541	13782541	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13782541G>A	uc001ims.2	-	c.585C>T	c.(583-585)AAC>AAT	p.N195N	FRMD4A_uc009xjf.1_Silent_p.N195N|FRMD4A_uc001imt.1_Silent_p.N228N|FRMD4A_uc001imu.1_Silent_p.N211N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	195	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|pancreas(1)	2														0.308219	122.524885	127.308698	45	101	KEEP	---	---	---	---	capture		Silent	SNP	13782541	13782541	6301	10	G	A	A	A	516	40	FRMD4A	1	1
MTPAP	55149	broad.mit.edu	37	10	30629219	30629219	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30629219C>A	uc001ivb.3	-	c.881G>T	c.(880-882)CGG>CTG	p.R294L	MTPAP_uc001iva.3_Missense_Mutation_p.R164L|MTPAP_uc001ivc.2_Missense_Mutation_p.R164L	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	164					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1														0.209677	61.782971	71.454874	26	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30629219	30629219	10349	10	C	A	A	A	299	23	MTPAP	1	1
LYZL2	119180	broad.mit.edu	37	10	30918543	30918543	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30918543C>A	uc001ivk.2	-	c.92G>T	c.(91-93)GGC>GTC	p.G31V		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)												0.267606	49.489777	52.954575	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30918543	30918543	9509	10	C	A	A	A	338	26	LYZL2	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37482152	37482152	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37482152C>A	uc001iza.1	+	c.2412C>A	c.(2410-2412)GCC>GCA	p.A804A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	860					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.172043	31.433797	40.897408	16	77	KEEP	---	---	---	---	capture		Silent	SNP	37482152	37482152	663	10	C	A	A	A	301	24	ANKRD30A	2	2
GDF2	2658	broad.mit.edu	37	10	48413769	48413769	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48413769C>A	uc001jfa.1	-	c.1099G>T	c.(1099-1101)GAT>TAT	p.D367Y		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	367					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)	2														0.172727	37.45621	48.586203	19	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48413769	48413769	6582	10	C	A	A	A	403	31	GDF2	1	1
AKR1E2	83592	broad.mit.edu	37	10	4875556	4875556	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:4875556C>A	uc001ihi.2	+	c.222C>A	c.(220-222)TGC>TGA	p.C74*	AKR1E2_uc001ihl.1_Non-coding_Transcript|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Nonsense_Mutation_p.C74*|AKR1E2_uc009xhw.2_Nonsense_Mutation_p.C74*|AKR1E2_uc001ihj.2_Non-coding_Transcript|AKR1E2_uc001ihk.2_Nonsense_Mutation_p.C74*	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	74					oxidation-reduction process	cytoplasm	1,5-anhydro-D-fructose reductase activity				0						NSCLC(43;343 1097 20371 28813 45509)								0.187135	64.123866	79.784112	32	139	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4875556	4875556	477	10	C	A	A	A	337	26	AKR1E2	5	2
AKR1C3	8644	broad.mit.edu	37	10	5141584	5141584	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5141584G>T	uc001ihr.2	+	c.513G>T	c.(511-513)AGG>AGT	p.R171S	AKR1C3_uc010qap.1_Missense_Mutation_p.R148S|AKR1C3_uc001ihu.2_Missense_Mutation_p.R171S	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	171					oxidation-reduction process|prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NADP+) activity|testosterone 17-beta-dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0					Dimethyl sulfoxide(DB01093)|NADH(DB00157)									0.281553	74.373825	78.765432	29	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5141584	5141584	474	10	G	T	T	T	542	42	AKR1C3	2	2
ANK3	288	broad.mit.edu	37	10	61894041	61894041	+	Silent	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61894041T>A	uc001jky.2	-	c.2829A>T	c.(2827-2829)CCA>CCT	p.P943P	ANK3_uc001jkw.2_Silent_p.P77P|ANK3_uc009xpa.2_Silent_p.P77P|ANK3_uc001jkx.2_Silent_p.P121P|ANK3_uc010qih.1_Silent_p.P944P|ANK3_uc001jkz.3_Silent_p.P937P|ANK3_uc001jla.1_Silent_p.P9P|ANK3_uc001jlb.1_Silent_p.P450P	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	943					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.339623	58.838535	60.041376	18	35	KEEP	---	---	---	---	capture		Silent	SNP	61894041	61894041	625	10	T	A	A	A	652	51	ANK3	3	3
CTNNA3	29119	broad.mit.edu	37	10	67726505	67726505	+	Splice_Site_SNP	SNP	C	A	A	rs76944052	by1000genomes	TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:67726505C>A	uc009xpn.1	-	c.2266_splice	c.e17-1	p.C756_splice	CTNNA3_uc001jmw.2_Splice_Site_SNP_p.C756_splice	NM_001127384	NP_001120856			catenin, alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.214286	43.100485	49.43479	18	66	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67726505	67726505	4173	10	C	A	A	A	260	20	CTNNA3	5	2
TET1	80312	broad.mit.edu	37	10	70405010	70405010	+	Missense_Mutation	SNP	A	G	G	rs77500190	by1000genomes	TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70405010A>G	uc001jok.3	+	c.2524A>G	c.(2524-2526)ATC>GTC	p.I842V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	842					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5									p.I842V(IM95-Tumor)|p.I842V(KMRC1-Tumor)|p.I842V(PL21-Tumor)	280				0.190476	92.376727	111.185597	40	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70405010	70405010	16296	10	A	G	G	G	104	8	TET1	4	4
ADAMTS14	140766	broad.mit.edu	37	10	72520242	72520242	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72520242C>T	uc001jrg.2	+	c.3314C>T	c.(3313-3315)CCT>CTT	p.P1105L	ADAMTS14_uc001jrh.2_Missense_Mutation_p.P1102L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1102	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.323529	100.672725	103.475254	33	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72520242	72520242	260	10	C	T	T	T	312	24	ADAMTS14	2	2
ACTA2	59	broad.mit.edu	37	10	90699439	90699439	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90699439G>T	uc001kfp.2	-	c.633C>A	c.(631-633)GTC>GTA	p.V211V	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.V166V|ACTA2_uc001kfq.2_Silent_p.V211V	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	211					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)						5				0.19697	26.53363	32.182983	13	53	KEEP	---	---	---	---	capture		Silent	SNP	90699439	90699439	193	10	G	T	T	T	522	41	ACTA2	2	2
DYNC2H1	79659	broad.mit.edu	37	11	103229014	103229014	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103229014G>T	uc001phn.1	+	c.12104G>T	c.(12103-12105)GGT>GTT	p.G4035V	DYNC2H1_uc001pho.2_Missense_Mutation_p.G4028V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4028					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.529412	28.975905	28.988702	9	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103229014	103229014	5032	11	G	T	T	T	572	44	DYNC2H1	2	2
CARD16	114769	broad.mit.edu	37	11	104912157	104912157	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104912157C>A	uc001pip.1	-	c.564G>T	c.(562-564)GAG>GAT	p.E188D	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	188					regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity				0														0.277311	89.938272	95.240561	33	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104912157	104912157	2766	11	C	A	A	A	259	20	CARD16	2	2
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120983847G>C	uc010rzo.1	+	c.553G>C	c.(553-555)GAA>CAA	p.E185Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)								OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.375	136.308336	137.731524	39	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120983847	120983847	16274	11	G	C	C	C	481	37	TECTA	3	3
OR8G2	26492	broad.mit.edu	37	11	124095613	124095613	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124095613G>T	uc010saf.1	+	c.216G>T	c.(214-216)ATG>ATT	p.M72I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	olfactory receptor, family 8, subfamily G,	72						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.101754	26.390015	71.508364	29	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124095613	124095613	11646	11	G	T	T	T	624	48	OR8G2	2	2
OR8B3	390271	broad.mit.edu	37	11	124266919	124266919	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124266919G>T	uc010saj.1	-	c.329C>A	c.(328-330)TCT>TAT	p.S110Y	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.392405	89.302042	90.104608	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124266919	124266919	11639	11	G	T	T	T	429	33	OR8B3	2	2
OR8A1	390275	broad.mit.edu	37	11	124440930	124440930	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124440930G>T	uc010san.1	+	c.966G>T	c.(964-966)AGG>AGT	p.R322S		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	322	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)										0.241379	50.087724	55.360431	21	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124440930	124440930	11636	11	G	T	T	T	555	43	OR8A1	2	2
PKNOX2	63876	broad.mit.edu	37	11	125300031	125300031	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125300031C>A	uc001qbu.2	+	c.1186C>A	c.(1186-1188)CCC>ACC	p.P396T	PKNOX2_uc010saz.1_Missense_Mutation_p.P367T|PKNOX2_uc010sba.1_Missense_Mutation_p.P367T|PKNOX2_uc010sbb.1_Missense_Mutation_p.P332T|PKNOX2_uc001qbv.2_Missense_Mutation_p.P161T	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	396						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)										0.144444	17.208241	28.170986	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125300031	125300031	12408	11	C	A	A	A	286	22	PKNOX2	2	2
SPON1	10418	broad.mit.edu	37	11	14284462	14284462	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14284462C>A	uc001mle.2	+	c.2201C>A	c.(2200-2202)GCC>GAC	p.A734D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	734					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)										0.381818	56.209141	56.864767	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14284462	14284462	15595	11	C	A	A	A	338	26	SPON1	2	2
USH1C	10083	broad.mit.edu	37	11	17554815	17554815	+	Silent	SNP	G	T	T	rs121908370		TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17554815G>T	uc001mne.2	-	c.91C>A	c.(91-93)CGA>AGA	p.R31R	USH1C_uc001mnf.2_Silent_p.R31R|USH1C_uc009yhb.2_Silent_p.R31R|USH1C_uc001mng.2_Non-coding_Transcript|USH1C_uc001mnd.2_5'UTR	NM_153676	NP_710142	Q9Y6N9	USH1C_HUMAN	harmonin isoform b3	31					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1														0.146341	33.36975	48.154528	18	105	KEEP	---	---	---	---	capture		Silent	SNP	17554815	17554815	17596	11	G	T	T	T	493	38	USH1C	1	1
SAA4	6291	broad.mit.edu	37	11	18253967	18253967	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18253967C>A	uc001mny.2	-	c.205G>T	c.(205-207)GGT>TGT	p.G69C		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	69					acute-phase response	high-density lipoprotein particle					0														0.109422	33.398435	82.98815	36	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18253967	18253967	14280	11	C	A	A	A	286	22	SAA4	2	2
MRGPRX2	117194	broad.mit.edu	37	11	19077218	19077218	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19077218G>C	uc001mph.2	-	c.732C>G	c.(730-732)TTC>TTG	p.F244L		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	244	Helical; Name=6; (Potential).				sensory perception of pain|sleep	integral to membrane|plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GBM(198;1966 2199 4849 37227 49954)								0.131313	25.787729	38.916313	13	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19077218	19077218	10160	11	G	C	C	C	529	41	MRGPRX2	3	3
NAT10	55226	broad.mit.edu	37	11	34139979	34139979	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34139979G>T	uc001mvk.2	+	c.709G>T	c.(709-711)GAG>TAG	p.E237*	NAT10_uc010ren.1_Nonsense_Mutation_p.E165*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	237						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)												0.389831	61.814868	62.440384	23	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34139979	34139979	10570	11	G	T	T	T	533	41	NAT10	5	2
OR4A5	81318	broad.mit.edu	37	11	51412283	51412283	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51412283A>T	uc001nhi.1	-	c.113T>A	c.(112-114)GTG>GAG	p.V38E		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	38	Helical; Name=1; (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)												0.419355	121.010668	121.537939	39	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51412283	51412283	11449	11	A	T	T	T	78	6	OR4A5	3	3
OR51B5	282763	broad.mit.edu	37	11	5364170	5364170	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5364170C>G	uc001map.1	-	c.585G>C	c.(583-585)CTG>CTC	p.L195L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	195	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.369792	252.980103	255.839259	71	121	KEEP	---	---	---	---	capture		Silent	SNP	5364170	5364170	11501	11	C	G	G	G	210	17	OR51B5	3	3
OR5L1	219437	broad.mit.edu	37	11	55579661	55579661	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579661C>A	uc001nhw.1	+	c.719C>A	c.(718-720)ACC>AAC	p.T240N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.347305	163.391824	166.83241	58	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579661	55579661	11580	11	C	A	A	A	234	18	OR5L1	2	2
OR5M1	390168	broad.mit.edu	37	11	56380768	56380768	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380768T>A	uc001nja.1	-	c.211A>T	c.(211-213)ATT>TTT	p.I71F		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.420382	217.229199	218.096345	66	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56380768	56380768	11582	11	T	A	A	A	663	51	OR5M1	3	3
OR52N5	390075	broad.mit.edu	37	11	5799229	5799229	+	Silent	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799229A>T	uc010qzn.1	-	c.636T>A	c.(634-636)GCT>GCA	p.A212A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.094203	2.565366	25.466804	13	125	KEEP	---	---	---	---	capture		Silent	SNP	5799229	5799229	11540	11	A	T	T	T	132	11	OR52N5	3	3
OR5B21	219968	broad.mit.edu	37	11	58275002	58275002	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275002T>A	uc010rki.1	-	c.577A>T	c.(577-579)AGC>TGC	p.S193C		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.206897	29.968422	34.585288	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58275002	58275002	11561	11	T	A	A	A	715	55	OR5B21	3	3
MPEG1	219972	broad.mit.edu	37	11	58979381	58979381	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58979381G>T	uc001nnu.3	-	c.958C>A	c.(958-960)CCT>ACT	p.P320T		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	320	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)	1		all_epithelial(135;0.125)												0.377049	142.421163	144.039041	46	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58979381	58979381	10115	11	G	T	T	T	572	44	MPEG1	2	2
OR56A1	120796	broad.mit.edu	37	11	6048891	6048891	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048891G>T	uc010qzw.1	-	c.44C>A	c.(43-45)CCA>CAA	p.P15Q		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.342657	141.522236	144.654385	49	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6048891	6048891	11543	11	G	T	T	T	611	47	OR56A1	2	2
PHRF1	57661	broad.mit.edu	37	11	608329	608329	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:608329G>C	uc001lqe.2	+	c.2873G>C	c.(2872-2874)CGG>CCG	p.R958P	PHRF1_uc010qwc.1_Missense_Mutation_p.R957P|PHRF1_uc010qwd.1_Missense_Mutation_p.R956P|PHRF1_uc010qwe.1_Missense_Mutation_p.R954P|PHRF1_uc009ybz.1_Missense_Mutation_p.R748P|PHRF1_uc009yca.1_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	958							RNA polymerase binding|zinc ion binding				0														0.421053	25.297491	25.400654	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	608329	608329	12285	11	G	C	C	C	507	39	PHRF1	3	3
TSGA10IP	254187	broad.mit.edu	37	11	65715521	65715521	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65715521C>T	uc001ogk.1	+	c.1053C>T	c.(1051-1053)TCC>TCT	p.S351S	TSGA10IP_uc009yqw.1_Intron|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	351											0														0.307692	11.594723	12.023514	4	9	KEEP	---	---	---	---	capture		Silent	SNP	65715521	65715521	17169	11	C	T	T	T	262	21	TSGA10IP	2	2
DCHS1	8642	broad.mit.edu	37	11	6661905	6661905	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6661905G>A	uc001mem.1	-	c.940C>T	c.(940-942)CTG>TTG	p.L314L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	314	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.142857	23.93331	37.699715	16	96	KEEP	---	---	---	---	capture		Silent	SNP	6661905	6661905	4458	11	G	A	A	A	438	34	DCHS1	2	2
NLRP14	338323	broad.mit.edu	37	11	7064372	7064372	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7064372G>T	uc001mfb.1	+	c.1115G>T	c.(1114-1116)TGC>TTC	p.C372F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	372	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.136986	47.40416	75.34609	30	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7064372	7064372	10879	11	G	T	T	T	598	46	NLRP14	2	2
C2CD3	26005	broad.mit.edu	37	11	73768561	73768561	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73768561C>T	uc001ouu.2	-	c.4980G>A	c.(4978-4980)TCG>TCA	p.S1660S	C2CD3_uc001out.2_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1660	C2 2.									ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.111111	13.620881	29.76942	12	96	KEEP	---	---	---	---	capture		Silent	SNP	73768561	73768561	2237	11	C	T	T	T	392	31	C2CD3	1	1
CCDC89	220388	broad.mit.edu	37	11	85396473	85396473	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85396473T>A	uc001pau.1	-	c.701A>T	c.(700-702)CAG>CTG	p.Q234L		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	234	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.158333	36.045835	49.401163	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85396473	85396473	2991	11	T	A	A	A	715	55	CCDC89	3	3
GRM5	2915	broad.mit.edu	37	11	88337916	88337916	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88337916A>G	uc001pcq.2	-	c.1364T>C	c.(1363-1365)CTA>CCA	p.L455P	GRM5_uc009yvm.2_Missense_Mutation_p.L455P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	455	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.392857	116.859587	117.703008	33	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88337916	88337916	7079	11	A	G	G	G	195	15	GRM5	4	4
NAALAD2	10003	broad.mit.edu	37	11	89891342	89891342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89891342G>T	uc001pdf.3	+	c.826G>T	c.(826-828)GGA>TGA	p.G276*	NAALAD2_uc009yvx.2_Nonsense_Mutation_p.G276*|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Nonsense_Mutation_p.G276*|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	276	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.312268	234.69615	243.139628	84	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89891342	89891342	10523	11	G	T	T	T	455	35	NAALAD2	5	2
NAALAD2	10003	broad.mit.edu	37	11	89896515	89896515	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89896515G>T	uc001pdf.3	+	c.1113G>T	c.(1111-1113)TGG>TGT	p.W371C	NAALAD2_uc009yvx.2_Missense_Mutation_p.W338C|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.W278C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	371	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.14	64.357884	101.897274	42	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89896515	89896515	10523	11	G	T	T	T	559	43	NAALAD2	2	2
FAT3	120114	broad.mit.edu	37	11	92531657	92531657	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531657G>T	uc001pdj.3	+	c.5478G>T	c.(5476-5478)GTG>GTT	p.V1826V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1826	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.340426	46.884523	47.942919	16	31	KEEP	---	---	---	---	capture		Silent	SNP	92531657	92531657	5927	11	G	T	T	T	600	47	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92534270C>G	uc001pdj.3	+	c.8091C>G	c.(8089-8091)CAC>CAG	p.H2697Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2697	Cadherin 24.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.313725	54.582719	56.156801	16	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92534270	92534270	5927	11	C	G	G	G	246	19	FAT3	3	3
CLEC1A	51267	broad.mit.edu	37	12	10226002	10226002	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10226002G>T	uc001qxb.2	-	c.552C>A	c.(550-552)GCC>GCA	p.A184A	CLEC1A_uc009zhf.2_Silent_p.A96A|CLEC1A_uc001qxc.2_Silent_p.A96A|CLEC1A_uc001qxd.2_Silent_p.A141A|CLEC1A_uc010sgx.1_Silent_p.A82A	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	184	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2														0.150943	31.03404	43.403603	16	90	KEEP	---	---	---	---	capture		Silent	SNP	10226002	10226002	3642	12	G	T	T	T	496	39	CLEC1A	1	1
RASAL1	8437	broad.mit.edu	37	12	113553049	113553049	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113553049G>C	uc001tun.1	-	c.1024C>G	c.(1024-1026)CGT>GGT	p.R342G	RASAL1_uc010syp.1_Missense_Mutation_p.R342G|RASAL1_uc001tul.2_Missense_Mutation_p.R342G|RASAL1_uc001tum.1_Missense_Mutation_p.R342G|RASAL1_uc010syq.1_Missense_Mutation_p.R342G|RASAL1_uc001tuo.3_Missense_Mutation_p.R342G|RASAL1_uc010syr.1_Missense_Mutation_p.R342G	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	342	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(1)	3														0.301887	175.725625	183.151823	64	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113553049	113553049	13524	12	G	C	C	C	507	39	RASAL1	3	3
FBXO21	23014	broad.mit.edu	37	12	117604777	117604777	+	Silent	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117604777T>A	uc001twk.2	-	c.1119A>T	c.(1117-1119)GCA>GCT	p.A373A	FBXO21_uc001twj.2_Silent_p.A373A|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_5'UTR	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	373					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GBM(168;452 2038 13535 17701 43680)								0.189189	63.208927	76.594422	28	120	KEEP	---	---	---	---	capture		Silent	SNP	117604777	117604777	5970	12	T	A	A	A	704	55	FBXO21	3	3
GCN1L1	10985	broad.mit.edu	37	12	120614022	120614022	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120614022T>A	uc001txo.2	-	c.839_splice	c.e10-1	p.T280_splice		NM_006836	NP_006827			GCN1 general control of amino-acid synthesis						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.357724	129.168275	131.360023	44	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	120614022	120614022	6565	12	T	A	A	A	689	53	GCN1L1	5	3
EP400	57634	broad.mit.edu	37	12	132446343	132446343	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132446343G>C	uc001ujn.2	+	c.1179G>C	c.(1177-1179)TTG>TTC	p.L393F	EP400_uc001ujl.2_Missense_Mutation_p.L393F|EP400_uc001ujm.2_Missense_Mutation_p.L393F|EP400_uc001ujj.1_Missense_Mutation_p.L393F|EP400_uc001ujk.2_Missense_Mutation_p.L393F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	393					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.171429	57.510757	71.799009	24	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132446343	132446343	5342	12	G	C	C	C	594	46	EP400	3	3
P2RX2	22953	broad.mit.edu	37	12	133198443	133198443	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133198443C>A	uc001ukk.1	+	c.1379C>A	c.(1378-1380)CCG>CAG	p.P460Q	P2RX2_uc001uki.1_Intron|P2RX2_uc001ukj.1_Missense_Mutation_p.P434Q|P2RX2_uc001ukl.1_Missense_Mutation_p.P410Q|P2RX2_uc001ukm.1_Missense_Mutation_p.P362Q|P2RX2_uc001ukn.1_Missense_Mutation_p.P342Q|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform D	434	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)										0.285714	84.969772	89.575373	32	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133198443	133198443	11753	12	C	A	A	A	299	23	P2RX2	1	1
KIF21A	55605	broad.mit.edu	37	12	39734030	39734030	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39734030C>A	uc001rly.2	-	c.2247G>T	c.(2245-2247)CAG>CAT	p.Q749H	KIF21A_uc001rlw.2_Missense_Mutation_p.Q66H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q736H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q736H|KIF21A_uc010skl.1_Missense_Mutation_p.Q736H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	749					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.3125	42.605372	44.108792	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39734030	39734030	8599	12	C	A	A	A	259	20	KIF21A	2	2
LIMA1	51474	broad.mit.edu	37	12	50586248	50586249	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50586248_50586249GG>AT	uc001rwk.3	-	c.1129_1130CC>AT	c.(1129-1131)CCC>ATC	p.P377I	LIMA1_uc001rwg.3_Missense_Mutation_p.P74I|LIMA1_uc001rwh.3_Missense_Mutation_p.P216I|LIMA1_uc001rwi.3_Missense_Mutation_p.P217I|LIMA1_uc001rwj.3_Missense_Mutation_p.P376I|LIMA1_uc010smr.1_Non-coding_Transcript|LIMA1_uc010sms.1_Non-coding_Transcript	NM_001113546	NP_001107018	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform a	376					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1														0.246032	81.059605	88.461215	31	95	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	50586248	50586249	9122	12	GG	AT	AT	AT	559	43	LIMA1	2	2
KRT82	3888	broad.mit.edu	37	12	52788890	52788890	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52788890C>A	uc001sai.1	-	c.1411G>T	c.(1411-1413)GGC>TGC	p.G471C		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	471	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.193)										0.107143	7.327938	20.180342	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52788890	52788890	8811	12	C	A	A	A	286	22	KRT82	2	2
DDIT3	1649	broad.mit.edu	37	12	57910683	57910683	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57910683C>A	uc009zps.2	-	c.488G>T	c.(487-489)CGG>CTG	p.R163L	MARS_uc001sof.1_Intron|DDIT3_uc001soi.2_Missense_Mutation_p.R140L|DDIT3_uc009zpt.2_Missense_Mutation_p.R163L	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	140	Leucine-zipper.				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	670						GBM(112;1383 1547 7626 23045 28770)				27				0.236264	103.58645	115.130522	43	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57910683	57910683	4501	12	C	A	A	A	299	23	DDIT3	1	1
PPM1H	57460	broad.mit.edu	37	12	63083523	63083523	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63083523C>A	uc001srk.3	-	c.1201G>T	c.(1201-1203)GAC>TAC	p.D401Y		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	401	PP2C-like.						phosphoprotein phosphatase activity			ovary(1)	1			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)										0.230769	22.553843	25.144988	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63083523	63083523	12776	12	C	A	A	A	377	29	PPM1H	2	2
C12orf53	196500	broad.mit.edu	37	12	6804697	6804697	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6804697G>A	uc001qqf.1	-	c.726C>T	c.(724-726)TTC>TTT	p.F242F	C12orf53_uc001qqg.1_Silent_p.F242F	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	242	Cytoplasmic (Potential).					integral to membrane					0														0.151515	26.005287	37.484693	15	84	KEEP	---	---	---	---	capture		Silent	SNP	6804697	6804697	1742	12	G	A	A	A	477	37	C12orf53	1	1
MDM1	56890	broad.mit.edu	37	12	68708818	68708819	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:68708818_68708819CC>AA	uc001stz.2	-	c.1408_1409GG>TT	c.(1408-1410)GGG>TTG	p.G470L	MDM1_uc010stc.1_Missense_Mutation_p.G435L|MDM1_uc009zqv.1_Missense_Mutation_p.G190L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	470						nucleus				ovary(3)	3			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)										0.117333	49.655111	103.657701	44	331	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	68708818	68708819	9801	12	CC	AA	AA	AA	286	22	MDM1	2	2
FGD6	55785	broad.mit.edu	37	12	95602937	95602937	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:95602937C>A	uc001tdp.3	-	c.2123G>T	c.(2122-2124)CGG>CTG	p.R708L	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	708					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(2)|breast(1)	3														0.313953	150.188285	155.486077	54	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95602937	95602937	6074	12	C	A	A	A	299	23	FGD6	1	1
C12orf63	374467	broad.mit.edu	37	12	97052115	97052115	+	Silent	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97052115T>C	uc001tet.1	+	c.726T>C	c.(724-726)TAT>TAC	p.Y242Y		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	242										ovary(1)	1														0.094203	9.76885	32.60058	13	125	KEEP	---	---	---	---	capture		Silent	SNP	97052115	97052115	1750	12	T	C	C	C	660	51	C12orf63	4	4
ZIC2	7546	broad.mit.edu	37	13	100637593	100637593	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100637593C>T	uc001von.2	+	c.1256C>T	c.(1255-1257)CCG>CTG	p.P419L		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	419					brain development|positive regulation of sequence-specific DNA binding transcription factor activity|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					Pancreas(97;119 1522 31925 44771 48764)								0.22449	27.903543	31.318192	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100637593	100637593	18270	13	C	T	T	T	299	23	ZIC2	1	1
FAM155A	728215	broad.mit.edu	37	13	108518829	108518829	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108518829C>A	uc001vql.2	-	c.116G>T	c.(115-117)CGA>CTA	p.R39L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	39						integral to membrane	binding				0														0.271137	235.889475	252.120275	93	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108518829	108518829	5663	13	C	A	A	A	403	31	FAM155A	1	1
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114778667G>T	uc001vui.2	-	c.1463C>A	c.(1462-1464)GCG>GAG	p.A488E	RASA3_uc010tkk.1_Missense_Mutation_p.A456E|RASA3_uc001vuj.2_Missense_Mutation_p.A105E	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.464286	39.57144	39.602611	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114778667	114778667	13522	13	G	T	T	T	494	38	RASA3	1	1
GPR12	2835	broad.mit.edu	37	13	27333071	27333071	+	Silent	SNP	A	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27333071A>G	uc010aal.2	-	c.894T>C	c.(892-894)CCT>CCC	p.P298P	GPR12_uc010tdl.1_Silent_p.P139P	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	298	Helical; Name=7; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)										0.227273	61.313545	68.826528	25	85	KEEP	---	---	---	---	capture		Silent	SNP	27333071	27333071	6909	13	A	G	G	G	80	7	GPR12	4	4
FLT1	2321	broad.mit.edu	37	13	28893606	28893606	+	Missense_Mutation	SNP	G	T	T	rs116034414	by1000genomes	TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28893606G>T	uc001usb.3	-	c.3240C>A	c.(3238-3240)AGC>AGA	p.S1080R	FLT1_uc010aap.2_Missense_Mutation_p.S85R|FLT1_uc010aaq.2_Missense_Mutation_p.S205R|FLT1_uc001usa.3_Missense_Mutation_p.S298R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1080	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.138889	9.150423	13.686901	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28893606	28893606	6183	13	G	T	T	T	490	38	FLT1	1	1
NBEA	26960	broad.mit.edu	37	13	35770394	35770394	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:35770394G>T	uc001uvb.2	+	c.5321G>T	c.(5320-5322)AGA>ATA	p.R1774I	NBEA_uc010abi.2_Missense_Mutation_p.R430I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1774						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)										0.276923	45.519859	48.432533	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35770394	35770394	10583	13	G	T	T	T	429	33	NBEA	2	2
KBTBD6	89890	broad.mit.edu	37	13	41705328	41705328	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41705328C>A	uc001uxu.1	-	c.1320G>T	c.(1318-1320)TTG>TTT	p.L440F	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L374F	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	440	Kelch 2.						protein binding			ovary(1)	1		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)										0.107383	14.992057	37.793912	16	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41705328	41705328	8302	13	C	A	A	A	272	21	KBTBD6	2	2
FAM124A	220108	broad.mit.edu	37	13	51855350	51855350	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:51855350G>A	uc001vff.1	+	c.1707G>A	c.(1705-1707)TCG>TCA	p.S569S	FAM124A_uc001vfg.1_Silent_p.S533S	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	533										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)										0.325758	122.269737	125.830606	43	89	KEEP	---	---	---	---	capture		Silent	SNP	51855350	51855350	5622	13	G	A	A	A	496	39	FAM124A	1	1
OLFM4	10562	broad.mit.edu	37	13	53624298	53624298	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53624298C>A	uc001vhl.2	+	c.925C>A	c.(925-927)CTG>ATG	p.L309M	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	309	Olfactomedin-like.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.272727	116.503932	123.659975	42	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53624298	53624298	11260	13	C	A	A	A	259	20	OLFM4	2	2
PCDH17	27253	broad.mit.edu	37	13	58207122	58207122	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207122G>T	uc001vhq.1	+	c.442G>T	c.(442-444)GGC>TGC	p.G148C	PCDH17_uc010aec.1_Missense_Mutation_p.G148C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	148	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.193548	22.894542	28.315287	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207122	58207122	11932	13	G	T	T	T	559	43	PCDH17	2	2
PCDH17	27253	broad.mit.edu	37	13	58207470	58207470	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207470G>T	uc001vhq.1	+	c.790G>T	c.(790-792)GAT>TAT	p.D264Y	PCDH17_uc010aec.1_Missense_Mutation_p.D264Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	264	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.288889	133.553671	140.734339	52	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207470	58207470	11932	13	G	T	T	T	481	37	PCDH17	1	1
DIAPH3	81624	broad.mit.edu	37	13	60490351	60490351	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:60490351C>A	uc001vht.2	-	c.2203G>T	c.(2203-2205)GAG>TAG	p.E735*	DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E472*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E313*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	735	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)										0.263158	66.12763	70.949714	25	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60490351	60490351	4699	13	C	A	A	A	377	29	DIAPH3	5	2
OXGR1	27199	broad.mit.edu	37	13	97639260	97639260	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97639260C>A	uc001vmx.1	-	c.754G>T	c.(754-756)GTA>TTA	p.V252L	OXGR1_uc010afr.1_Missense_Mutation_p.V252L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	252	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.V252I(1)		ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)											0.288462	89.111246	93.281256	30	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97639260	97639260	11745	13	C	A	A	A	247	19	OXGR1	1	1
AHNAK2	113146	broad.mit.edu	37	14	105407380	105407380	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105407380G>C	uc010axc.1	-	c.14408C>G	c.(14407-14409)GCC>GGC	p.A4803G	AHNAK2_uc001ypx.2_Missense_Mutation_p.A4703G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4803						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.266667	60.39541	64.065264	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105407380	105407380	418	14	G	C	C	C	546	42	AHNAK2	3	3
OR6S1	341799	broad.mit.edu	37	14	21109284	21109284	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21109284G>T	uc001vxv.1	-	c.567C>A	c.(565-567)CGC>CGA	p.R189R		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)										0.432624	184.443315	185.002583	61	80	KEEP	---	---	---	---	capture		Silent	SNP	21109284	21109284	11620	14	G	T	T	T	535	42	OR6S1	2	2
RNASE2	6036	broad.mit.edu	37	14	21424301	21424301	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21424301G>C	uc010aif.2	+	c.371G>C	c.(370-372)AGG>ACG	p.R124T	RNASE2_uc001vyl.1_Missense_Mutation_p.R124T	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	124					chemotaxis|pathogenesis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)										0.239631	138.977411	152.42014	52	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21424301	21424301	13881	14	G	C	C	C	455	35	RNASE2	3	3
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23863047G>A	uc001wjv.2	-	c.2756C>T	c.(2755-2757)GCC>GTC	p.A919V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	919	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)										0.253165	98.318949	107.063526	40	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23863047	23863047	10433	14	G	A	A	A	546	42	MYH6	2	2
MYH6	4624	broad.mit.edu	37	14	23871768	23871768	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23871768C>A	uc001wjv.2	-	c.1046G>T	c.(1045-1047)GGC>GTC	p.G349V	MYH6_uc010akp.1_Missense_Mutation_p.G349V	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	349	Myosin head-like.				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)										0.174564	138.86415	178.890093	70	331	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23871768	23871768	10433	14	C	A	A	A	338	26	MYH6	2	2
ADCY4	196883	broad.mit.edu	37	14	24802138	24802138	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24802138G>C	uc001wov.2	-	c.216C>G	c.(214-216)TTC>TTG	p.F72L	ADCY4_uc001wow.2_Missense_Mutation_p.F72L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.F72L|ADCY4_uc001woy.2_Missense_Mutation_p.F72L|ADCY4_uc001woz.3_Missense_Mutation_p.F72L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	72	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)						1		OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.241379	35.417587	38.959424	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24802138	24802138	297	14	G	C	C	C	425	33	ADCY4	3	3
KHNYN	23351	broad.mit.edu	37	14	24901180	24901180	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24901180G>T	uc010tpc.1	+	c.836G>T	c.(835-837)GGA>GTA	p.G279V	KHNYN_uc001wph.3_Missense_Mutation_p.G238V|KHNYN_uc010alw.2_Missense_Mutation_p.G238V|CBLN3_uc001wpg.3_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	238										ovary(2)|liver(1)	3												OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.322222	146.910124	151.951085	58	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24901180	24901180	8456	14	G	T	T	T	533	41	KHNYN	2	2
AKAP6	9472	broad.mit.edu	37	14	33242894	33242894	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33242894G>A	uc001wrq.2	+	c.3383G>A	c.(3382-3384)CGT>CAT	p.R1128H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1128	Spectrin 2.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.089888	11.905451	72.26597	32	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33242894	33242894	458	14	G	A	A	A	520	40	AKAP6	1	1
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47530541G>T	uc001wwj.3	-	c.1229C>A	c.(1228-1230)ACG>AAG	p.T410K	MDGA2_uc001wwi.3_Missense_Mutation_p.T181K|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	410	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.43038	225.784638	226.450593	68	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47530541	47530541	9796	14	G	T	T	T	520	40	MDGA2	1	1
SERPINA3	12	broad.mit.edu	37	14	95088804	95088804	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95088804G>T	uc001ydo.3	+	c.1119G>T	c.(1117-1119)GGG>GGT	p.G373G	SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Silent_p.G348G|SERPINA3_uc001ydp.2_Silent_p.G348G|SERPINA3_uc001yds.2_Silent_p.G348G|SERPINA3_uc010avg.2_Silent_p.G348G	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	348					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.323944	64.324664	66.265589	23	48	KEEP	---	---	---	---	capture		Silent	SNP	95088804	95088804	14578	14	G	T	T	T	548	43	SERPINA3	2	2
C15orf2	23742	broad.mit.edu	37	15	24922175	24922175	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922175G>T	uc001ywo.2	+	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	387	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.25	29.046108	32.004356	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922175	24922175	1834	15	G	T	T	T	425	33	C15orf2	2	2
TGM5	9333	broad.mit.edu	37	15	43552761	43552761	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43552761G>A	uc001zrd.1	-	c.27C>T	c.(25-27)CTC>CTT	p.L9L	TGM5_uc001zre.1_Silent_p.L9L	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	9					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)									0.173913	30.141743	39.381662	16	76	KEEP	---	---	---	---	capture		Silent	SNP	43552761	43552761	16361	15	G	A	A	A	574	45	TGM5	2	2
POLG	5428	broad.mit.edu	37	15	89862224	89862224	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89862224G>A	uc002bns.3	-	c.3211C>T	c.(3211-3213)CGT>TGT	p.R1071C	POLG_uc002bnr.3_Missense_Mutation_p.R1071C	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1071					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			Colon(73;648 1203 11348 18386 27782)								0.218391	43.384728	49.738978	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89862224	89862224	12628	15	G	A	A	A	520	40	POLG	1	1
SMG1	23049	broad.mit.edu	37	16	18844354	18844354	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18844354C>A	uc002dfm.2	-	c.8700G>T	c.(8698-8700)CTG>CTT	p.L2900L	SMG1_uc010bwb.2_Silent_p.L2760L|SMG1_uc010bwa.2_Silent_p.L1631L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2900					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.51875	527.749594	527.847086	166	154	KEEP	---	---	---	---	capture		Silent	SNP	18844354	18844354	15293	16	C	A	A	A	314	25	SMG1	2	2
GPRC5B	51704	broad.mit.edu	37	16	19883304	19883304	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19883304G>T	uc010vav.1	-	c.942C>A	c.(940-942)GCC>GCA	p.A314A	GPRC5B_uc002dgt.2_Silent_p.A288A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	288	Helical; Name=7; (Potential).										0														0.493671	120.733469	120.735926	39	40	KEEP	---	---	---	---	capture		Silent	SNP	19883304	19883304	7001	16	G	T	T	T	600	47	GPRC5B	2	2
DNAH3	55567	broad.mit.edu	37	16	20976235	20976235	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20976235G>A	uc010vbe.1	-	c.8971C>T	c.(8971-8973)CGC>TGC	p.R2991C	DNAH3_uc010vbd.1_Missense_Mutation_p.R426C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.56338	262.618052	263.115605	80	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20976235	20976235	4786	16	G	A	A	A	507	39	DNAH3	1	1
PRKCB	5579	broad.mit.edu	37	16	24166177	24166178	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24166177_24166178TG>AT	uc002dme.2	+	c.1238_1239TG>AT	c.(1237-1239)ATG>AAT	p.M413N	PRKCB_uc002dmd.2_Missense_Mutation_p.M413N	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	413	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.5	64.07084	64.07084	21	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	24166177	24166178	12951	16	TG	AT	AT	AT	663	51	PRKCB	3	3
ITGAL	3683	broad.mit.edu	37	16	30492758	30492758	+	Splice_Site_SNP	SNP	A	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30492758A>G	uc002dyi.3	+	c.577_splice	c.e7-2	p.F193_splice	ITGAL_uc010veu.1_Splice_Site_SNP|ITGAL_uc002dyj.3_Splice_Site_SNP_p.F110_splice|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200			integrin alpha L isoform a precursor						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.413043	70.318934	70.622184	19	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	30492758	30492758	8190	16	A	G	G	G	195	15	ITGAL	5	4
NLRC3	197358	broad.mit.edu	37	16	3615000	3615000	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3615000C>A	uc010btn.2	-	c.38G>T	c.(37-39)GGC>GTC	p.G13V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	13					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6														0.606061	57.399431	57.723695	20	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3615000	3615000	10871	16	C	A	A	A	338	26	NLRC3	2	2
MYH8	4626	broad.mit.edu	37	17	10322326	10322326	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10322326G>T	uc002gmm.2	-	c.232C>A	c.(232-234)CAA>AAA	p.Q78K		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	78	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.25641	48.958032	53.158898	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10322326	10322326	10436	17	G	T	T	T	611	47	MYH8	2	2
TLCD1	116238	broad.mit.edu	37	17	27051724	27051724	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27051724C>A	uc002hco.2	-	c.548G>T	c.(547-549)CGC>CTC	p.R183L	TLCD1_uc010waw.1_Missense_Mutation_p.R136L	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	183	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)													0.162037	68.209109	91.652619	35	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27051724	27051724	16466	17	C	A	A	A	351	27	TLCD1	1	1
EVI2A	2123	broad.mit.edu	37	17	29645450	29645450	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29645450G>T	uc002hgl.2	-	c.651C>A	c.(649-651)GAC>GAA	p.D217E	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgm.2_Missense_Mutation_p.D194E	NM_001003927	NP_001003927	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 1	194	Cytoplasmic (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)										0.445946	100.434649	100.626766	33	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29645450	29645450	5480	17	G	T	T	T	620	48	EVI2A	2	2
NF1	4763	broad.mit.edu	37	17	29657518	29657518	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29657518T>A	uc002hgg.2	+	c.5812_splice	c.e39+2	p.S1938_splice	NF1_uc002hgh.2_Splice_Site_SNP_p.S1917_splice|NF1_uc002hgi.1_Missense_Mutation_p.S950R|NF1_uc010cso.2_Splice_Site_SNP_p.S126_splice	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)						847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.525641	130.379481	130.42429	41	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	29657518	29657518	10756	17	T	A	A	A	741	57	NF1	5	3
GAS2L2	246176	broad.mit.edu	37	17	34073054	34073054	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34073054G>C	uc002hjv.1	-	c.1462C>G	c.(1462-1464)CCA>GCA	p.P488A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	488					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.51	362.657173	362.674733	102	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34073054	34073054	6511	17	G	C	C	C	546	42	GAS2L2	3	3
DHRS11	79154	broad.mit.edu	37	17	34951468	34951468	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34951468C>T	uc002hnd.2	+	c.215C>T	c.(214-216)TCA>TTA	p.S72L		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	72					oxidation-reduction process	extracellular region	binding|oxidoreductase activity				0														0.14094	30.975116	49.515892	21	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34951468	34951468	4666	17	C	T	T	T	377	29	DHRS11	2	2
CASC3	22794	broad.mit.edu	37	17	38318060	38318060	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38318060G>A	uc010cwt.1	+	c.352G>A	c.(352-354)GAA>AAA	p.E118K	CASC3_uc010cws.1_Missense_Mutation_p.E118K|CASC3_uc002hue.2_Missense_Mutation_p.E118K	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	118	Potential.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding			ovary(1)	1														0.34375	137.47409	140.228385	44	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38318060	38318060	2780	17	G	A	A	A	429	33	CASC3	2	2
KRT28	162605	broad.mit.edu	37	17	38950232	38950232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38950232G>A	uc002hvh.1	-	c.1045C>T	c.(1045-1047)CAG>TAG	p.Q349*		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	349	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				Melanoma(19;789 869 15380 26882 39836)								0.471519	452.78245	453.009922	149	167	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38950232	38950232	8780	17	G	A	A	A	611	47	KRT28	5	2
KRTAP3-1	83896	broad.mit.edu	37	17	39165133	39165133	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39165133C>G	uc002hvt.1	-	c.194G>C	c.(193-195)TGC>TCC	p.C65S		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	keratin associated protein 3.1	65						keratin filament	structural molecule activity				0		Breast(137;0.00043)												0.45	128.2007	128.373311	36	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39165133	39165133	8867	17	C	G	G	G	325	25	KRTAP3-1	3	3
GFAP	2670	broad.mit.edu	37	17	42988648	42988648	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42988648G>T	uc002ihq.2	-	c.1083C>A	c.(1081-1083)ATC>ATA	p.I361I	GFAP_uc002ihr.2_Silent_p.I361I|GFAP_uc010wjg.1_Non-coding_Transcript	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	361	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)												0.402985	158.71775	159.821857	54	80	KEEP	---	---	---	---	capture		Silent	SNP	42988648	42988648	6605	17	G	T	T	T	473	37	GFAP	1	1
GFAP	2670	broad.mit.edu	37	17	42989121	42989121	+	Silent	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42989121G>C	uc002ihq.2	-	c.825C>G	c.(823-825)CTC>CTG	p.L275L	GFAP_uc002ihr.2_Silent_p.L275L|GFAP_uc010wjg.1_Non-coding_Transcript	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	275	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)												0.422222	127.153072	127.623357	38	52	KEEP	---	---	---	---	capture		Silent	SNP	42989121	42989121	6605	17	G	C	C	C	522	41	GFAP	3	3
HOXB8	3218	broad.mit.edu	37	17	46690585	46690585	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46690585C>A	uc002inw.2	-	c.711G>T	c.(709-711)GCG>GCT	p.A237A	HOXB7_uc002inv.2_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	237					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.410959	174.164936	175.17635	60	86	KEEP	---	---	---	---	capture		Silent	SNP	46690585	46690585	7599	17	C	A	A	A	340	27	HOXB8	1	1
MINK1	50488	broad.mit.edu	37	17	4794819	4794819	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4794819G>A	uc010vsl.1	+	c.1809G>A	c.(1807-1809)CAG>CAA	p.Q603Q	MINK1_uc010vsk.1_Silent_p.Q603Q|MINK1_uc010vsm.1_Silent_p.Q583Q|MINK1_uc010vsn.1_Silent_p.Q603Q|MINK1_uc010vso.1_Silent_p.Q548Q|MINK1_uc010vsp.1_Silent_p.Q93Q	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	603					JNK cascade|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6										511				0.230769	8.118303	8.981684	3	10	KEEP	---	---	---	---	capture		Silent	SNP	4794819	4794819	9977	17	G	A	A	A	451	35	MINK1	2	2
NLRP1	22861	broad.mit.edu	37	17	5462598	5462598	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5462598G>A	uc002gci.2	-	c.1418C>T	c.(1417-1419)GCA>GTA	p.A473V	NLRP1_uc002gcg.1_Missense_Mutation_p.A473V|NLRP1_uc002gck.2_Missense_Mutation_p.A473V|NLRP1_uc002gcj.2_Missense_Mutation_p.A473V|NLRP1_uc002gcl.2_Missense_Mutation_p.A473V|NLRP1_uc002gch.3_Missense_Mutation_p.A473V|NLRP1_uc010clh.2_Missense_Mutation_p.A473V	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	473	NACHT.				activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)							p.A473V(HS840.T-Tumor)	431				0.205128	16.380288	19.524866	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5462598	5462598	10874	17	G	A	A	A	598	46	NLRP1	2	2
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56247058C>A	uc010wnp.1	+	c.42C>A	c.(40-42)TTC>TTA	p.F14L		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.125	25.834012	50.013473	22	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56247058	56247058	11463	17	C	A	A	A	389	30	OR4D2	2	2
DDX42	11325	broad.mit.edu	37	17	61886919	61886919	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61886919G>T	uc002jbu.2	+	c.1153_splice	c.e12-1	p.G385_splice	DDX42_uc002jbv.2_Splice_Site_SNP_p.G385_splice|DDX42_uc002jbw.1_Splice_Site_SNP_p.G121_splice|DDX42_uc002jbx.2_Splice_Site_SNP_p.G121_splice|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398			DEAD box polypeptide 42 protein						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|large_intestine(1)	3														0.113402	10.748454	25.059916	11	86	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	61886919	61886919	4533	17	G	T	T	T	455	35	DDX42	5	2
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578556T>A	uc002gim.2	-	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_SNP_p.Y126_splice|TP53_uc002gih.2_Splice_Site_SNP_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_SNP_p.Y126_splice|TP53_uc010cni.1_Splice_Site_SNP_p.Y126_splice|TP53_uc002gij.2_Splice_Site_SNP_p.Y126_splice|TP53_uc010cnj.1_Splice_Site_SNP|TP53_uc002gin.2_Splice_Site_SNP_p.Y33_splice|TP53_uc002gio.2_Splice_Site_SNP|TP53_uc010vug.1_Splice_Site_SNP_p.Y87_splice	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.?(14)|p.0?(6)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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	(CORL279-Tumor)|(SNU423-Tumor)|(KYSE520-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.414634	55.768841	56.029493	17	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7578556	7578556	16923	17	T	A	A	A	715	55	TP53	5	3
C1QTNF1	114897	broad.mit.edu	37	17	77044101	77044101	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77044101C>A	uc002jwt.2	+	c.1071C>A	c.(1069-1071)ATC>ATA	p.I357I	C1QTNF1_uc002jwp.2_Silent_p.I259I|C1QTNF1_uc002jwq.2_Silent_p.I177I|C1QTNF1_uc002jwr.3_Silent_p.I269I|C1QTNF1_uc002jws.2_Silent_p.I259I	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	259	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)											0.4	98.828648	99.573259	34	51	KEEP	---	---	---	---	capture		Silent	SNP	77044101	77044101	2029	17	C	A	A	A	408	32	C1QTNF1	2	2
TBCD	6904	broad.mit.edu	37	17	80726316	80726316	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80726316G>T	uc002kfy.1	+	c.456G>T	c.(454-456)ATG>ATT	p.M152I	TBCD_uc002kfx.1_Missense_Mutation_p.M135I|TBCD_uc002kfz.2_Missense_Mutation_p.M152I	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	152					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)											0.464646	562.263723	562.692574	184	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80726316	80726316	16159	17	G	T	T	T	598	46	TBCD	2	2
GLP2R	9340	broad.mit.edu	37	17	9757860	9757860	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9757860G>T	uc002gmd.1	+	c.553G>T	c.(553-555)GGA>TGA	p.G185*		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	185	Helical; Name=1; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				ovary(1)	1					Glucagon recombinant(DB00040)									0.217391	187.024951	214.108752	80	288	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9757860	9757860	6721	17	G	T	T	T	559	43	GLP2R	5	2
ASXL3	80816	broad.mit.edu	37	18	31319419	31319419	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31319419C>A	uc010dmg.1	+	c.2051C>A	c.(2050-2052)TCC>TAC	p.S684Y	ASXL3_uc002kxq.2_Missense_Mutation_p.S391Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	684	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.356688	152.346424	155.190953	56	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31319419	31319419	1087	18	C	A	A	A	390	30	ASXL3	2	2
MOCOS	55034	broad.mit.edu	37	18	33793329	33793329	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33793329G>T	uc002kzq.3	+	c.1219G>T	c.(1219-1221)GTG>TTG	p.V407L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	407					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.163934	17.314517	23.864518	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33793329	33793329	10080	18	G	T	T	T	572	44	MOCOS	2	2
SETBP1	26040	broad.mit.edu	37	18	42531706	42531706	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42531706G>T	uc010dni.2	+	c.2401G>T	c.(2401-2403)GAG>TAG	p.E801*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	801						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.477064	154.786834	154.837142	52	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42531706	42531706	14617	18	G	T	T	T	429	33	SETBP1	5	2
SLC14A2	8170	broad.mit.edu	37	18	43249375	43249375	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43249375G>C	uc010dnj.2	+	c.2141G>C	c.(2140-2142)GGC>GCC	p.G714A	SLC14A2_uc002lbe.2_Missense_Mutation_p.G714A	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	714	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.15	68.064647	98.601513	39	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43249375	43249375	14892	18	G	C	C	C	546	42	SLC14A2	3	3
DYM	54808	broad.mit.edu	37	18	46858254	46858254	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:46858254C>A	uc002ldi.1	-	c.743G>T	c.(742-744)GGA>GTA	p.G248V	DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_Missense_Mutation_p.G70V	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	248						Golgi apparatus					0														0.150685	34.194063	51.236543	22	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46858254	46858254	5026	18	C	A	A	A	390	30	DYM	2	2
C18orf32	497661	broad.mit.edu	37	18	47015750	47015750	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47015750C>A	uc002ldm.1	-	c.486G>T	c.(484-486)GAG>GAT	p.E162D	C18orf32_uc002ldk.1_5'Flank|C18orf32_uc002ldl.2_5'Flank|RPL17_uc002ldn.2_Missense_Mutation_p.E124D|RPL17_uc002ldo.2_Missense_Mutation_p.E162D|RPL17_uc002ldp.2_Missense_Mutation_p.E162D|RPL17_uc002ldq.2_Missense_Mutation_p.E162D|RPL17_uc010xdg.1_Missense_Mutation_p.E124D|SNORD58C_uc002ldr.2_5'Flank	NM_001035006	NP_001030178	Q8TCD1	CR032_HUMAN	ribosomal protein L17	69					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity				0														0.280374	80.299914	84.942585	30	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47015750	47015750	1962	18	C	A	A	A	311	24	C18orf32	2	2
WDR7	23335	broad.mit.edu	37	18	54694337	54694337	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54694337G>T	uc002lgk.1	+	c.4372G>T	c.(4372-4374)GGC>TGC	p.G1458C	WDR7_uc002lgl.1_Missense_Mutation_p.G1425C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1458										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.158879	32.308876	44.171883	17	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54694337	54694337	17893	18	G	T	T	T	507	39	WDR7	1	1
ATP8B1	5205	broad.mit.edu	37	18	55359150	55359150	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55359150G>A	uc002lgw.2	-	c.1109C>T	c.(1108-1110)TCT>TTT	p.S370F		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	370	Extracellular (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.217391	24.423882	27.812102	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55359150	55359150	1213	18	G	A	A	A	429	33	ATP8B1	2	2
ALPK2	115701	broad.mit.edu	37	18	56202436	56202436	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56202436C>A	uc002lhj.3	-	c.4983G>T	c.(4981-4983)GAG>GAT	p.E1661D	ALPK2_uc002lhk.1_Missense_Mutation_p.E992D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1661					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.100629	14.175704	39.498236	16	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56202436	56202436	548	18	C	A	A	A	259	20	ALPK2	2	2
TNFRSF11A	8792	broad.mit.edu	37	18	60015426	60015426	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60015426G>A	uc002lin.2	+	c.101G>A	c.(100-102)TGT>TAT	p.C34Y	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.C34Y	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	34	TNFR-Cys 1.|Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity				0		Colorectal(73;0.188)												0.396396	128.272501	129.316402	44	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60015426	60015426	16825	18	G	A	A	A	624	48	TNFRSF11A	2	2
CDH7	1005	broad.mit.edu	37	18	63527052	63527052	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63527052G>T	uc002ljz.2	+	c.1603G>T	c.(1603-1605)GAT>TAT	p.D535Y	CDH7_uc002lka.2_Missense_Mutation_p.D535Y|CDH7_uc002lkb.2_Missense_Mutation_p.D535Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	535	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.215385	29.110055	33.974379	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63527052	63527052	3244	18	G	T	T	T	429	33	CDH7	2	2
ISYNA1	51477	broad.mit.edu	37	19	18546722	18546722	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18546722T>C	uc002njd.1	-	c.985A>G	c.(985-987)ATC>GTC	p.I329V	ISYNA1_uc002nja.1_Missense_Mutation_p.I201V|ISYNA1_uc002njb.1_Missense_Mutation_p.I247V|ISYNA1_uc002njc.1_Missense_Mutation_p.I179V|ISYNA1_uc010xqh.1_Missense_Mutation_p.I127V|ISYNA1_uc002nje.1_Missense_Mutation_p.I275V|ISYNA1_uc002njf.1_Missense_Mutation_p.I179V	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	329					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2														0.311966	200.268635	207.647966	73	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18546722	18546722	8171	19	T	C	C	C	663	51	ISYNA1	4	4
PBX4	80714	broad.mit.edu	37	19	19681554	19681554	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19681554G>A	uc002nmy.2	-	c.282C>T	c.(280-282)TGC>TGT	p.C94C	PBX4_uc010xqz.1_Non-coding_Transcript|PBX4_uc010xra.1_5'UTR	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	94					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2														0.160494	19.418407	28.318936	13	68	KEEP	---	---	---	---	capture		Silent	SNP	19681554	19681554	11915	19	G	A	A	A	594	46	PBX4	2	2
ZNF208	7757	broad.mit.edu	37	19	22155180	22155180	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22155180C>T	uc002nqp.2	-	c.2356G>A	c.(2356-2358)GAG>AAG	p.E786K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.365385	119.83078	121.484818	38	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22155180	22155180	18357	19	C	T	T	T	416	32	ZNF208	2	2
ZNF99	7652	broad.mit.edu	37	19	22941575	22941575	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22941575C>G	uc010xrh.1	-	c.863G>C	c.(862-864)AGC>ACC	p.S288T		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	288	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.117647	25.160792	42.262361	14	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22941575	22941575	18808	19	C	G	G	G	364	28	ZNF99	3	3
NCLN	56926	broad.mit.edu	37	19	3204605	3204605	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3204605C>T	uc002lxi.2	+	c.1064C>T	c.(1063-1065)TCC>TTC	p.S355F	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.2_5'UTR	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	355	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)										0.138889	16.082647	25.089133	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3204605	3204605	10626	19	C	T	T	T	390	30	NCLN	2	2
CCDC123	84902	broad.mit.edu	37	19	33457284	33457284	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33457284G>A	uc002nty.2	-	c.128C>T	c.(127-129)CCA>CTA	p.P43L	CCDC123_uc010edg.2_Non-coding_Transcript|CCDC123_uc002ntz.1_Missense_Mutation_p.P43L|CCDC123_uc002nua.2_Missense_Mutation_p.P43L|CCDC123_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CC123_HUMAN	coiled-coil domain containing 123	43						mitochondrion				ovary(3)|pancreas(1)	4	Esophageal squamous(110;0.137)													0.16	13.36983	18.873673	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33457284	33457284	2879	19	G	A	A	A	611	47	CCDC123	2	2
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3452610G>T	uc010xhi.1	+	c.1215G>T	c.(1213-1215)CCG>CCT	p.P405P	NFIC_uc002lxo.2_Silent_p.P396P|NFIC_uc010xhh.1_Silent_p.P396P|NFIC_uc002lxp.2_Silent_p.P405P|NFIC_uc010xhj.1_Silent_p.P405P	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	405					DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)										0.141667	52.084982	81.752685	34	206	KEEP	---	---	---	---	capture		Silent	SNP	3452610	3452610	10772	19	G	T	T	T	483	38	NFIC	1	1
COX6B1	1340	broad.mit.edu	37	19	36145541	36145541	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36145541C>T	uc002oav.2	+	c.175C>T	c.(175-177)CGT>TGT	p.R59C		NM_001863	NP_001854	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1	59					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.131148	22.627012	38.755779	16	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36145541	36145541	3914	19	C	T	T	T	351	27	COX6B1	1	1
NPHS1	4868	broad.mit.edu	37	19	36322556	36322556	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36322556C>T	uc002oby.2	-	c.3275G>A	c.(3274-3276)CGT>CAT	p.R1092H	NPHS1_uc010eem.1_Intron	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1092	Cytoplasmic (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)											0.214286	13.735893	15.845704	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36322556	36322556	10986	19	C	T	T	T	247	19	NPHS1	1	1
IL28B	282617	broad.mit.edu	37	19	39734774	39734774	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39734774C>G	uc010xut.1	-	c.282G>C	c.(280-282)TTG>TTC	p.L94F	IL28B_uc010xuu.1_Missense_Mutation_p.L94F	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	94					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)											0.246154	47.778024	51.584144	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39734774	39734774	7984	19	C	G	G	G	272	21	IL28B	3	3
GMFG	9535	broad.mit.edu	37	19	39819649	39819649	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39819649C>A	uc002okz.3	-	c.348G>T	c.(346-348)GAG>GAT	p.E116D	GMFG_uc002okx.3_Missense_Mutation_p.E116D	NM_004877	NP_004868	O60234	GMFG_HUMAN	glia maturation factor, gamma	116	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)											0.197802	36.48695	44.240285	18	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39819649	39819649	6759	19	C	A	A	A	363	28	GMFG	2	2
ANKRD24	170961	broad.mit.edu	37	19	4219712	4219712	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4219712G>T	uc010dtt.1	+	c.3128G>T	c.(3127-3129)CGG>CTG	p.R1043L		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1043	Potential.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)										0.382716	92.955271	93.913854	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4219712	4219712	658	19	G	T	T	T	507	39	ANKRD24	1	1
IRGC	56269	broad.mit.edu	37	19	44223909	44223909	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44223909G>T	uc002oxh.2	+	c.1199G>T	c.(1198-1200)CGC>CTC	p.R400L		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	400						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)	1		Prostate(69;0.0435)				Colon(189;350 2037 11447 13433 38914)								0.214286	15.835192	17.945163	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44223909	44223909	8141	19	G	T	T	T	494	38	IRGC	1	1
GRLF1	2909	broad.mit.edu	37	19	47422455	47422455	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47422455G>T	uc010ekv.2	+	c.523G>T	c.(523-525)GAT>TAT	p.D175Y		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	175					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)										0.119048	12.088573	24.060539	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47422455	47422455	7074	19	G	T	T	T	585	45	GRLF1	2	2
ZNF611	81856	broad.mit.edu	37	19	53208882	53208882	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53208882C>T	uc002pzz.2	-	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	ZNF611_uc010eqc.2_Missense_Mutation_p.D406N|ZNF611_uc010ydo.1_Missense_Mutation_p.D406N|ZNF611_uc010ydr.1_Missense_Mutation_p.D407N|ZNF611_uc010ydp.1_Missense_Mutation_p.D476N|ZNF611_uc010ydq.1_Missense_Mutation_p.D476N|ZNF611_uc002qaa.3_Missense_Mutation_p.D406N	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	476	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)										0.139665	39.456792	61.904953	25	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53208882	53208882	18632	19	C	T	T	T	377	29	ZNF611	2	2
LILRA1	11024	broad.mit.edu	37	19	55106135	55106135	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106135C>T	uc002qgh.1	+	c.76C>T	c.(76-78)CTC>TTC	p.L26F	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.L26F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	26	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.286957	100.132365	104.811153	33	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55106135	55106135	9110	19	C	T	T	T	312	24	LILRA1	2	2
SAPS1	22870	broad.mit.edu	37	19	55742243	55742243	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55742243T>A	uc002qjv.2	-	c.2655A>T	c.(2653-2655)AGA>AGT	p.R885S	TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjw.3_Missense_Mutation_p.R823S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	823	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)										0.395349	43.540556	43.959519	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55742243	55742243	14317	19	T	A	A	A	699	54	SAPS1	3	3
COX6B2	125965	broad.mit.edu	37	19	55865866	55865866	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55865866C>A	uc002qkn.2	-	c.24G>T	c.(22-24)GAG>GAT	p.E8D	COX6B2_uc002qkm.2_Non-coding_Transcript|COX6B2_uc002qko.2_Non-coding_Transcript|COX6B2_uc002qkp.1_Missense_Mutation_p.S150I	NM_144613	NP_653214	Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb,	8						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity				0	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		NSCLC(77;1057 1395 2148 36198 42783)								0.124352	19.223443	45.838132	24	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55865866	55865866	3915	19	C	A	A	A	363	28	COX6B2	2	2
ZNF579	163033	broad.mit.edu	37	19	56090015	56090015	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56090015C>A	uc002qlh.2	-	c.991G>T	c.(991-993)GCG>TCG	p.A331S		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	331	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)										0.318182	19.91722	20.563661	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56090015	56090015	18606	19	C	A	A	A	351	27	ZNF579	1	1
ZNF667	63934	broad.mit.edu	37	19	56954088	56954088	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56954088G>T	uc002qnd.2	-	c.276C>A	c.(274-276)ACC>ACA	p.T92T	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.T92T|ZNF667_uc010etm.2_Silent_p.T35T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)										0.378571	161.701177	163.490163	53	87	KEEP	---	---	---	---	capture		Silent	SNP	56954088	56954088	18669	19	G	T	T	T	600	47	ZNF667	2	2
ZNF135	7694	broad.mit.edu	37	19	58579729	58579730	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58579729_58579730GG>AA	uc010yhq.1	+	c.1913_1914GG>AA	c.(1912-1914)AGG>AAA	p.R638K	ZNF135_uc002qre.2_Missense_Mutation_p.R626K|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.R584K|ZNF135_uc002qrg.2_Missense_Mutation_p.R596K|ZNF135_uc010yhr.1_Missense_Mutation_p.R447K	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	638					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)										0.179245	42.759427	53.02095	19	87	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	58579729	58579730	18316	19	GG	AA	AA	AA	455	35	ZNF135	2	2
FBN3	84467	broad.mit.edu	37	19	8183790	8183790	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8183790C>G	uc002mjf.2	-	c.3328G>C	c.(3328-3330)GCC>CCC	p.A1110P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1110	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.125	31.119184	48.693307	16	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8183790	8183790	5940	19	C	G	G	G	325	25	FBN3	3	3
MUC16	94025	broad.mit.edu	37	19	9069492	9069492	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9069492C>A	uc002mkp.2	-	c.17954G>T	c.(17953-17955)AGT>ATT	p.S5985I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5987	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														0.128713	35.697916	62.835653	26	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9069492	9069492	10367	19	C	A	A	A	260	20	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9089844	9089844	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9089844C>A	uc002mkp.2	-	c.1971G>T	c.(1969-1971)AAG>AAT	p.K657N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	657	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														0.086735	3.317556	37.221012	17	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9089844	9089844	10367	19	C	A	A	A	415	32	MUC16	2	2
OLFM2	93145	broad.mit.edu	37	19	9967991	9967991	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9967991C>T	uc002mmp.2	-	c.528G>A	c.(526-528)CAG>CAA	p.Q176Q	OLFM2_uc002mmo.2_Silent_p.Q98Q	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	176	Potential.					extracellular region				large_intestine(1)|skin(1)	2														0.270073	98.81243	105.350109	37	100	KEEP	---	---	---	---	capture		Silent	SNP	9967991	9967991	11258	19	C	T	T	T	363	28	OLFM2	2	2
OLFM2	93145	broad.mit.edu	37	19	9968420	9968420	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9968420C>T	uc002mmp.2	-	c.331G>A	c.(331-333)GAT>AAT	p.D111N	OLFM2_uc002mmo.2_Missense_Mutation_p.D33N	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	111						extracellular region				large_intestine(1)|skin(1)	2														0.364583	98.594931	100.145101	35	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9968420	9968420	11258	19	C	T	T	T	377	29	OLFM2	2	2
KCNA2	3737	broad.mit.edu	37	1	111146880	111146880	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111146880G>T	uc001dzu.2	-	c.525C>A	c.(523-525)ATC>ATA	p.I175I	KCNA2_uc009wfv.1_Silent_p.I175I|KCNA2_uc009wfw.2_Silent_p.I175I	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	175	Helical; Name=Segment S1; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		Pancreas(18;568 735 10587 23710 36357)								0.439394	165.713897	166.138913	58	74	KEEP	---	---	---	---	capture		Silent	SNP	111146880	111146880	8308	1	G	T	T	T	421	33	KCNA2	2	2
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112999276G>T	uc001ebx.2	+	c.1162G>T	c.(1162-1164)GAG>TAG	p.E388*	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.389262	323.317914	326.523542	116	182	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112999276	112999276	4205	1	G	T	T	T	533	41	CTTNBP2NL	5	2
PRDM2	7799	broad.mit.edu	37	1	14106677	14106677	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:14106677G>T	uc001avi.2	+	c.2387G>T	c.(2386-2388)AGC>ATC	p.S796I	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S796I|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.S553I|PRDM2_uc001avk.2_Missense_Mutation_p.S595I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	796					regulation of transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)										0.45	156.69669	156.962366	54	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14106677	14106677	12900	1	G	T	T	T	442	34	PRDM2	2	2
PIAS3	10401	broad.mit.edu	37	1	145578690	145578690	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145578690C>T	uc001eoc.1	+	c.496C>T	c.(496-498)CCC>TCC	p.P166S	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.P157S|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	166	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.110048	22.836189	54.233456	23	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145578690	145578690	12301	1	C	T	T	T	234	18	PIAS3	2	2
SELENBP1	8991	broad.mit.edu	37	1	151338093	151338093	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151338093C>A	uc010pcy.1	-	c.1116G>T	c.(1114-1116)GGG>GGT	p.G372G	SELENBP1_uc001exx.2_Silent_p.G330G|SELENBP1_uc001exy.2_Silent_p.G227G|SELENBP1_uc001exz.2_Silent_p.G227G|SELENBP1_uc010pcz.1_Silent_p.G268G|SELENBP1_uc009wms.2_Silent_p.G166G|SELENBP1_uc009wmt.2_Silent_p.G227G|SELENBP1_uc001eya.2_Silent_p.G266G|SELENBP1_uc009wmu.2_Silent_p.G227G	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	330					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.430894	440.998644	442.544379	159	210	KEEP	---	---	---	---	capture		Silent	SNP	151338093	151338093	14500	1	C	A	A	A	275	22	SELENBP1	2	2
TCHHL1	126637	broad.mit.edu	37	1	152058156	152058156	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152058156G>A	uc001ezo.1	-	c.2002C>T	c.(2002-2004)CTG>TTG	p.L668L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	668							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)											0.153179	107.931168	147.759074	53	293	KEEP	---	---	---	---	capture		Silent	SNP	152058156	152058156	16227	1	G	A	A	A	451	35	TCHHL1	2	2
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153312856C>A	uc001fbo.2	-	c.824_splice	c.e7+1	p.N275_splice	PGLYRP4_uc001fbp.2_Splice_Site_SNP_p.N271_splice	NM_020393	NP_065126			peptidoglycan recognition protein-I-beta						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(3)	3	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.411765	183.558828	184.486994	56	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	153312856	153312856	12219	1	C	A	A	A	260	20	PGLYRP4	5	2
S100A7	6278	broad.mit.edu	37	1	153430349	153430349	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153430349C>A	uc001fbv.1	-	c.239G>T	c.(238-240)GGA>GTA	p.G80V		NM_002963	NP_002954	P31151	S10A7_HUMAN	S100 calcium binding protein A7	80	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding				0	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.15528	35.286652	53.73778	25	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153430349	153430349	14263	1	C	A	A	A	390	30	S100A7	2	2
FCRL2	79368	broad.mit.edu	37	1	157737060	157737060	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157737060C>A	uc001fre.2	-	c.1123G>T	c.(1123-1125)GGG>TGG	p.G375W	FCRL2_uc001frd.2_Missense_Mutation_p.G122W|FCRL2_uc010phz.1_Missense_Mutation_p.G375W|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	375	Ig-like C2-type 4.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.458101	245.52574	245.799787	82	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157737060	157737060	6032	1	C	A	A	A	286	22	FCRL2	2	2
OR10T2	128360	broad.mit.edu	37	1	158368914	158368914	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158368914G>T	uc010pih.1	-	c.343C>A	c.(343-345)CTC>ATC	p.L115I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.103226	13.990802	38.28625	16	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158368914	158368914	11325	1	G	T	T	T	455	35	OR10T2	2	2
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390454C>A	uc010pii.1	-	c.203G>T	c.(202-204)TGC>TTC	p.C68F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.100877	18.05509	54.307617	23	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158390454	158390454	11320	1	C	A	A	A	325	25	OR10K2	2	2
OR10R2	343406	broad.mit.edu	37	1	158450337	158450337	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450337G>T	uc010pik.1	+	c.670G>T	c.(670-672)GTT>TTT	p.V224F		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	224	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.348624	226.747804	231.149815	76	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158450337	158450337	11323	1	G	T	T	T	468	36	OR10R2	2	2
SPTA1	6708	broad.mit.edu	37	1	158607828	158607828	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158607828C>A	uc001fst.1	-	c.5184G>T	c.(5182-5184)TGG>TGT	p.W1728C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1728	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.329218	218.517732	224.800536	80	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158607828	158607828	15630	1	C	A	A	A	390	30	SPTA1	2	2
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158617395C>A	uc001fst.1	-	c.3830G>T	c.(3829-3831)CGT>CTT	p.R1277L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1277	Spectrin 12.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.161905	71.538209	94.348344	34	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158617395	158617395	15630	1	C	A	A	A	247	19	SPTA1	1	1
OR6K2	81448	broad.mit.edu	37	1	158669653	158669653	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158669653A>G	uc001fsu.1	-	c.790T>C	c.(790-792)TCT>CCT	p.S264P		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.434211	114.219243	114.513063	33	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158669653	158669653	11612	1	A	G	G	G	143	11	OR6K2	4	4
OR6K3	391114	broad.mit.edu	37	1	158687606	158687606	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687606C>A	uc010pip.1	-	c.348G>T	c.(346-348)CAG>CAT	p.Q116H		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.130435	49.003063	88.748777	39	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158687606	158687606	11613	1	C	A	A	A	415	32	OR6K3	2	2
USP21	27005	broad.mit.edu	37	1	161130698	161130698	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161130698C>T	uc010pke.1	+	c.268C>T	c.(268-270)CTG>TTG	p.L90L	USP21_uc010pkc.1_Silent_p.L90L|USP21_uc010pkd.1_Silent_p.L90L|USP21_uc010pkf.1_Silent_p.L90L	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	90					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.127451	20.819092	34.608411	13	89	KEEP	---	---	---	---	capture		Silent	SNP	161130698	161130698	17616	1	C	T	T	T	311	24	USP21	2	2
HSPA6	3310	broad.mit.edu	37	1	161496061	161496061	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161496061T>A	uc001gap.2	+	c.1613T>A	c.(1612-1614)GTG>GAG	p.V538E	HSPA6_uc001gaq.2_Missense_Mutation_p.V538E	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	538					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.230769	23.756377	26.345608	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161496061	161496061	7714	1	T	A	A	A	767	59	HSPA6	3	3
MYOC	4653	broad.mit.edu	37	1	171605172	171605172	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171605172G>A	uc001ghu.2	-	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	MYOC_uc010pmk.1_Missense_Mutation_p.R412C	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	470	Olfactomedin-like.		R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)													0.129534	37.148535	62.927026	25	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171605172	171605172	10481	1	G	A	A	A	507	39	MYOC	1	1
RASAL2	9462	broad.mit.edu	37	1	178252788	178252789	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178252788_178252789AC>TT	uc001glq.2	+	c.292_293AC>TT	c.(292-294)ACA>TTA	p.T98L	RASAL2_uc009wxb.2_Missense_Mutation_p.T98L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.099099	20.590986	56.258262	22	200	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	178252788	178252789	13525	1	AC	TT	TT	TT	78	6	RASAL2	3	3
LAMC1	3915	broad.mit.edu	37	1	183091312	183091312	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183091312C>A	uc001gpy.3	+	c.2327C>A	c.(2326-2328)CCT>CAT	p.P776H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	776	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.151685	46.447246	67.101616	27	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183091312	183091312	8937	1	C	A	A	A	312	24	LAMC1	2	2
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196683021G>A	uc001gtj.3	+	c.1493G>A	c.(1492-1494)GGA>GAA	p.G498E		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	498	Sushi 8.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.126316	18.430828	31.378536	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196683021	196683021	3416	1	G	A	A	A	533	41	CFH	2	2
F13B	2165	broad.mit.edu	37	1	197024971	197024971	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197024971C>A	uc001gtt.1	-	c.1228G>T	c.(1228-1230)GGG>TGG	p.G410W		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	410	Sushi 7.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.419048	139.488916	140.08765	44	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197024971	197024971	5535	1	C	A	A	A	299	23	F13B	1	1
CRB1	23418	broad.mit.edu	37	1	197396952	197396952	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197396952G>T	uc001gtz.2	+	c.2497G>T	c.(2497-2499)GGT>TGT	p.G833C	CRB1_uc010poz.1_Missense_Mutation_p.G764C|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.G721C|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.1_Missense_Mutation_p.G314C|CRB1_uc001gub.1_Missense_Mutation_p.G482C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	833	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.402985	82.310907	82.862548	27	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197396952	197396952	3987	1	G	T	T	T	611	47	CRB1	2	2
LHX9	56956	broad.mit.edu	37	1	197890725	197890725	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197890725G>T	uc001guk.1	+	c.669G>T	c.(667-669)CAG>CAT	p.Q223H	LHX9_uc001gui.1_Missense_Mutation_p.Q214H|LHX9_uc001guj.1_Missense_Mutation_p.Q229H	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	223					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1														0.333333	43.445931	44.706622	17	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197890725	197890725	9103	1	G	T	T	T	425	33	LHX9	2	2
PTPRC	5788	broad.mit.edu	37	1	198703339	198703339	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198703339C>G	uc001gur.1	+	c.2151C>G	c.(2149-2151)CCC>CCG	p.P717P	PTPRC_uc001gus.1_Silent_p.P669P|PTPRC_uc001gut.1_Silent_p.P556P|PTPRC_uc010ppg.1_Silent_p.P653P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	717	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11									p.P717P(GSU-Tumor)	815				0.386861	152.222628	153.765686	53	84	KEEP	---	---	---	---	capture		Silent	SNP	198703339	198703339	13254	1	C	G	G	G	262	21	PTPRC	3	3
KIF21B	23046	broad.mit.edu	37	1	200978567	200978567	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200978567T>A	uc001gvs.1	-	c.91A>T	c.(91-93)ACC>TCC	p.T31S	KIF21B_uc001gvr.1_Missense_Mutation_p.T31S|KIF21B_uc009wzl.1_Missense_Mutation_p.T31S|KIF21B_uc010ppn.1_Missense_Mutation_p.T31S	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	31	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.29878	128.435855	134.492956	49	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200978567	200978567	8600	1	T	A	A	A	741	57	KIF21B	3	3
CHIT1	1118	broad.mit.edu	37	1	203192633	203192633	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203192633G>T	uc001gzn.2	-	c.470C>A	c.(469-471)ACC>AAC	p.T157N	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.T148N	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	157					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0														0.160714	31.288555	43.554108	18	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203192633	203192633	3480	1	G	T	T	T	572	44	CHIT1	2	2
LAX1	54900	broad.mit.edu	37	1	203743435	203743435	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203743435G>T	uc001haa.2	+	c.823G>T	c.(823-825)GAT>TAT	p.D275Y	LAX1_uc010pql.1_Missense_Mutation_p.D259Y|LAX1_uc001hab.2_Missense_Mutation_p.D199Y	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	275	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.166667	33.818942	46.474477	20	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203743435	203743435	8971	1	G	T	T	T	533	41	LAX1	2	2
TMEM81	388730	broad.mit.edu	37	1	205053311	205053311	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205053311G>A	uc001hbt.2	-	c.138C>T	c.(136-138)GCC>GCT	p.A46A		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	46	Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)											0.16129	37.815977	51.360352	20	104	KEEP	---	---	---	---	capture		Silent	SNP	205053311	205053311	16744	1	G	A	A	A	600	47	TMEM81	2	2
KIF17	57576	broad.mit.edu	37	1	21014281	21014281	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21014281G>A	uc001bdr.3	-	c.1538C>T	c.(1537-1539)TCC>TTC	p.S513F	KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.S513F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	513					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)										0.11215	25.844167	57.64987	24	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21014281	21014281	8590	1	G	A	A	A	533	41	KIF17	2	2
USH2A	7399	broad.mit.edu	37	1	216369952	216369952	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216369952G>T	uc001hku.1	-	c.4194C>A	c.(4192-4194)GAC>GAA	p.D1398E	USH2A_uc001hkv.2_Missense_Mutation_p.D1398E	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1398	Extracellular (Potential).|Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.358621	164.276192	166.821346	52	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216369952	216369952	17598	1	G	T	T	T	620	48	USH2A	2	2
EPHA8	2046	broad.mit.edu	37	1	22903323	22903323	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22903323G>T	uc001bfx.1	+	c.773G>T	c.(772-774)GGC>GTC	p.G258V	EPHA8_uc001bfw.2_Missense_Mutation_p.G258V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	258	Extracellular (Potential).|Cys-rich.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|skin(1)	12		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)						520				0.160714	17.338526	23.474464	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22903323	22903323	5366	1	G	T	T	T	546	42	EPHA8	2	2
RYR2	6262	broad.mit.edu	37	1	237540714	237540714	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237540714C>G	uc001hyl.1	+	c.555C>G	c.(553-555)AGC>AGG	p.S185R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	185	Cytoplasmic (By similarity).|MIR 2.				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)											0.313433	69.558196	71.629573	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237540714	237540714	14249	1	C	G	G	G	350	27	RYR2	3	3
OR13G1	441933	broad.mit.edu	37	1	247835561	247835561	+	Silent	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835561G>C	uc001idi.1	-	c.783C>G	c.(781-783)TCC>TCG	p.S261S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.384615	187.155575	188.978954	60	96	KEEP	---	---	---	---	capture		Silent	SNP	247835561	247835561	11348	1	G	C	C	C	600	47	OR13G1	3	3
OR2M2	391194	broad.mit.edu	37	1	248343333	248343333	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343333G>T	uc010pzf.1	+	c.46G>T	c.(46-48)GGA>TGA	p.G16*		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	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)											0.158038	110.895346	151.829135	58	309	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248343333	248343333	11416	1	G	T	T	T	611	47	OR2M2	5	2
OR2T27	403239	broad.mit.edu	37	1	248813304	248813304	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813304G>T	uc010pzo.1	-	c.882C>A	c.(880-882)AAC>AAA	p.N294K		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.290323	77.776864	81.447833	27	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248813304	248813304	11427	1	G	T	T	T	620	48	OR2T27	2	2
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564412	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28564412A>C	uc001bpq.2	+	c.244A>C	c.(244-246)AAG>CAG	p.K82Q	ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1 isoform 1 precursor	82	Potential.				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)										0.363636	98.28368	99.541609	28	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28564412	28564412	1222	1	A	C	C	C	169	13	ATPIF1	4	4
ATPIF1	93974	broad.mit.edu	37	1	28564414	28564414	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28564414G>T	uc001bpq.2	+	c.246G>T	c.(244-246)AAG>AAT	p.K82N	ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1 isoform 1 precursor	82	Potential.				angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)										0.346667	71.522721	73.081558	26	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28564414	28564414	1222	1	G	T	T	T	425	33	ATPIF1	2	2
IL12RB2	3595	broad.mit.edu	37	1	67833708	67833708	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67833708G>T	uc001ddu.2	+	c.1459G>T	c.(1459-1461)GAG>TAG	p.E487*	IL12RB2_uc010oqi.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqk.1_Non-coding_Transcript|IL12RB2_uc010oql.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqn.1_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	487	Fibronectin type-III 4.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.168067	39.759049	52.153071	20	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67833708	67833708	7928	1	G	T	T	T	455	35	IL12RB2	5	2
LRRC7	57554	broad.mit.edu	37	1	70226056	70226056	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70226056C>A	uc001dep.2	+	c.169C>A	c.(169-171)CAA>AAA	p.Q57K	LRRC7_uc001deo.1_Missense_Mutation_p.Q95K|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	57	LRR 2.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.112676	9.444496	19.963438	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70226056	70226056	9396	1	C	A	A	A	377	29	LRRC7	2	2
FUBP1	8880	broad.mit.edu	37	1	78422351	78422351	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78422351C>A	uc010orm.1	-	c.1674G>T	c.(1672-1674)TGG>TGT	p.W558C	FUBP1_uc001dih.3_Non-coding_Transcript|FUBP1_uc001dii.2_Missense_Mutation_p.W537C	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	537	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3														0.147287	28.139957	43.56021	19	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78422351	78422351	6343	1	C	A	A	A	286	22	FUBP1	2	2
ZNF326	284695	broad.mit.edu	37	1	90470716	90470716	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:90470716G>T	uc001dnq.2	+	c.122G>T	c.(121-123)GGA>GTA	p.G41V	ZNF326_uc001dnp.3_Missense_Mutation_p.G41V|ZNF326_uc009wda.1_Missense_Mutation_p.G41V|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	41	Mediates transcriptional activation (By similarity).|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)										0.376623	159.596293	161.659087	58	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90470716	90470716	18438	1	G	T	T	T	533	41	ZNF326	2	2
SNPH	9751	broad.mit.edu	37	20	1286120	1286120	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1286120G>T	uc002wet.2	+	c.1039G>T	c.(1039-1041)GGT>TGT	p.G347C	SNPH_uc002wes.2_Missense_Mutation_p.G303C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	303					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2														0.281481	100.488794	106.284397	38	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1286120	1286120	15350	20	G	T	T	T	611	47	SNPH	2	2
SIRPB2	284759	broad.mit.edu	37	20	1460697	1460697	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1460697C>A	uc002wfg.2	-	c.99G>T	c.(97-99)CAG>CAT	p.Q33H	SIRPB2_uc002wfh.3_Missense_Mutation_p.Q33H|SIRPB2_uc010zpr.1_5'UTR	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	33	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane					0														0.380282	77.203734	78.097903	27	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1460697	1460697	14829	20	C	A	A	A	415	32	SIRPB2	2	2
XKR7	343702	broad.mit.edu	37	20	30585000	30585000	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30585000G>T	uc002wxe.2	+	c.1480G>T	c.(1480-1482)GGG>TGG	p.G494W		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	494						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.111111	7.516565	19.629784	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30585000	30585000	18017	20	G	T	T	T	455	35	XKR7	2	2
C20orf132	140699	broad.mit.edu	37	20	35737029	35737029	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35737029T>C	uc010zvu.1	-	c.2983A>G	c.(2983-2985)AGG>GGG	p.R995G	C20orf132_uc002xgk.2_Missense_Mutation_p.R617G	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)												0.230769	9.418521	10.281674	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35737029	35737029	2163	20	T	C	C	C	700	54	C20orf132	4	4
SIGLEC1	6614	broad.mit.edu	37	20	3677979	3677979	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3677979C>A	uc002wja.2	-	c.2133G>T	c.(2131-2133)CTG>CTT	p.L711L	SIGLEC1_uc002wiz.3_Silent_p.L711L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	711	Ig-like C2-type 7.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.245283	31.326794	34.481934	13	40	KEEP	---	---	---	---	capture		Silent	SNP	3677979	3677979	14800	20	C	A	A	A	262	21	SIGLEC1	2	2
SLC12A5	57468	broad.mit.edu	37	20	44664173	44664173	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44664173A>T	uc010zxl.1	+	c.347A>T	c.(346-348)CAG>CTG	p.Q116L	SLC12A5_uc002xra.2_Missense_Mutation_p.Q93L|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.Q93L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	116	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.301075	77.361749	80.649945	28	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44664173	44664173	14881	20	A	T	T	T	91	7	SLC12A5	3	3
ADAMTS5	11096	broad.mit.edu	37	21	28296390	28296390	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28296390G>T	uc002ymg.2	-	c.2775C>A	c.(2773-2775)TGC>TGA	p.C925*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	925	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.285714	66.374502	69.83018	24	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28296390	28296390	270	21	G	T	T	T	438	34	ADAMTS5	5	2
USP16	10600	broad.mit.edu	37	21	30415863	30415863	+	Silent	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30415863T>C	uc002ymy.2	+	c.1299T>C	c.(1297-1299)TCT>TCC	p.S433S	USP16_uc002ymx.2_Silent_p.S432S|USP16_uc002ymw.2_Silent_p.S433S|USP16_uc011acm.1_Silent_p.S418S|USP16_uc011acn.1_Silent_p.S99S|USP16_uc011aco.1_Silent_p.S123S	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	433					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.192982	25.590049	30.608598	11	46	KEEP	---	---	---	---	capture		Silent	SNP	30415863	30415863	17609	21	T	C	C	C	704	55	USP16	4	4
KRTAP10-12	386685	broad.mit.edu	37	21	46117289	46117289	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46117289T>A	uc002zfw.1	+	c.173T>A	c.(172-174)GTA>GAA	p.V58E	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	58	19 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.148571	44.254664	64.9804	26	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46117289	46117289	8823	21	T	A	A	A	741	57	KRTAP10-12	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072820C>G	uc002zlp.1	-	c.621G>C	c.(619-621)GCG>GCC	p.A207A		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.147059	40.827446	57.099818	20	116	KEEP	---	---	---	---	capture		Silent	SNP	17072820	17072820	3088	22	C	G	G	G	340	27	CCT8L2	3	3
CECR5	27440	broad.mit.edu	37	22	17630516	17630516	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17630516C>G	uc002zmf.2	-	c.246G>C	c.(244-246)CGG>CGC	p.R82R	CECR5_uc002zme.2_5'Flank|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Silent_p.R52R	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.327273	249.957107	257.341991	90	185	KEEP	---	---	---	---	capture		Silent	SNP	17630516	17630516	3340	22	C	G	G	G	275	22	CECR5	3	3
IL2RB	3560	broad.mit.edu	37	22	37533689	37533689	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37533689G>T	uc003aqv.1	-	c.475C>A	c.(475-477)CAC>AAC	p.H159N		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	159	Extracellular (Potential).|Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)									0.190141	57.33613	70.091572	27	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37533689	37533689	7988	22	G	T	T	T	611	47	IL2RB	2	2
PARVG	64098	broad.mit.edu	37	22	44581730	44581730	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44581730C>A	uc011aqe.1	+	c.122C>A	c.(121-123)CCC>CAC	p.P41H	PARVG_uc010gzo.2_Missense_Mutation_p.P108H|PARVG_uc010gzp.2_Non-coding_Transcript|PARVG_uc003bep.2_Missense_Mutation_p.P41H|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc010gzr.1_Non-coding_Transcript|PARVG_uc011aqf.1_Missense_Mutation_p.P41H|PARVG_uc003beq.2_Non-coding_Transcript|PARVG_uc003ber.2_Non-coding_Transcript	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	41					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)												0.205128	15.373822	18.526026	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44581730	44581730	11887	22	C	A	A	A	286	22	PARVG	2	2
PLXNB2	23654	broad.mit.edu	37	22	50719028	50719028	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50719028C>A	uc003bkv.3	-	c.4065G>T	c.(4063-4065)ACG>ACT	p.T1355T	PLXNB2_uc003bkt.1_Silent_p.T147T|PLXNB2_uc003bku.1_Silent_p.T340T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1355	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)	5		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)										0.107843	11.66371	27.210625	11	91	KEEP	---	---	---	---	capture		Silent	SNP	50719028	50719028	12550	22	C	A	A	A	288	23	PLXNB2	1	1
SBF1	6305	broad.mit.edu	37	22	50900255	50900255	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50900255C>A	uc003blh.2	-	c.2613G>T	c.(2611-2613)CGG>CGT	p.R871R	SBF1_uc011arx.1_Silent_p.R535R|SBF1_uc003bli.2_Silent_p.R872R	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	871					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)										0.278351	64.669614	68.967107	27	70	KEEP	---	---	---	---	capture		Silent	SNP	50900255	50900255	14339	22	C	A	A	A	275	22	SBF1	2	2
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113082754G>T	uc002thq.1	+	c.2066G>T	c.(2065-2067)AGG>ATG	p.R689M		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	689							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.24	31.073685	34.159427	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113082754	113082754	18159	2	G	T	T	T	455	35	ZC3H6	2	2
INHBB	3625	broad.mit.edu	37	2	121107308	121107308	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:121107308G>T	uc002tmn.2	+	c.1082G>T	c.(1081-1083)CGG>CTG	p.R361L		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)	2		Prostate(154;0.122)												0.321101	98.880481	101.982771	35	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121107308	121107308	8043	2	G	T	T	T	507	39	INHBB	1	1
FAM123C	205147	broad.mit.edu	37	2	131521360	131521360	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131521360C>T	uc002trw.2	+	c.1715C>T	c.(1714-1716)CCG>CTG	p.P572L	FAM123C_uc010fmv.2_Missense_Mutation_p.P572L|FAM123C_uc010fms.1_Missense_Mutation_p.P572L|FAM123C_uc010fmt.1_Missense_Mutation_p.P572L|FAM123C_uc010fmu.1_Missense_Mutation_p.P572L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	572										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.166667	20.788325	27.737819	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131521360	131521360	5621	2	C	T	T	T	299	23	FAM123C	1	1
LRP1B	53353	broad.mit.edu	37	2	141267498	141267498	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141267498G>A	uc002tvj.1	-	c.8397C>T	c.(8395-8397)TGC>TGT	p.C2799C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2799	Extracellular (Potential).|LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.182432	55.071932	69.064058	27	121	KEEP	---	---	---	---	capture		Silent	SNP	141267498	141267498	9328	2	G	A	A	A	490	38	LRP1B	1	1
TPO	7173	broad.mit.edu	37	2	1459915	1459915	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1459915C>A	uc002qww.2	+	c.680C>A	c.(679-681)TCT>TAT	p.S227Y	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S227Y|TPO_uc002qwr.2_Missense_Mutation_p.S227Y|TPO_uc002qwx.2_Missense_Mutation_p.S227Y|TPO_uc010yio.1_Missense_Mutation_p.S227Y|TPO_uc010yip.1_Missense_Mutation_p.S227Y	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	227	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.123457	12.198329	23.429517	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1459915	1459915	16954	2	C	A	A	A	416	32	TPO	2	2
NBAS	51594	broad.mit.edu	37	2	15492159	15492159	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15492159T>A	uc002rcc.1	-	c.4136A>T	c.(4135-4137)GAA>GTA	p.E1379V	NBAS_uc010exl.1_Missense_Mutation_p.E451V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1379										ovary(2)|liver(1)	3														0.101449	5.476497	16.407486	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15492159	15492159	10582	2	T	A	A	A	806	62	NBAS	3	3
SCN3A	6328	broad.mit.edu	37	2	165984466	165984466	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165984466C>A	uc002ucx.2	-	c.3068G>T	c.(3067-3069)CGG>CTG	p.R1023L	SCN3A_uc002ucy.2_Missense_Mutation_p.R974L|SCN3A_uc002ucz.2_Missense_Mutation_p.R974L|SCN3A_uc002uda.1_Missense_Mutation_p.R843L|SCN3A_uc002udb.1_Missense_Mutation_p.R843L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1023						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.271028	83.334115	88.388909	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165984466	165984466	14400	2	C	A	A	A	299	23	SCN3A	1	1
PPIG	9360	broad.mit.edu	37	2	170493474	170493475	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170493474_170493475GG>CT	uc002uez.2	+	c.1706_1707GG>CT	c.(1705-1707)AGG>ACT	p.R569T	PPIG_uc010fpx.2_Missense_Mutation_p.R554T|PPIG_uc010fpy.2_Missense_Mutation_p.R562T|PPIG_uc002ufb.2_Missense_Mutation_p.R569T|PPIG_uc002ufd.2_Missense_Mutation_p.R566T	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	569	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)									0.126984	13.952541	22.505361	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	170493474	170493475	12759	2	GG	CT	CT	CT	455	35	PPIG	3	3
TTN	7273	broad.mit.edu	37	2	179542347	179542347	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179542347C>A	uc010zfg.1	-	c.30559_splice	c.e143+1	p.V10187_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_SNP_p.V6848_splice|TTN_uc010fre.1_Intron|TTN_uc002una.1_Splice_Site_SNP|TTN_uc010frf.1_Splice_Site_SNP	NM_133378	NP_596869			titin isoform N2-A											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				0.333333	55.53203	56.860448	18	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	179542347	179542347	17290	2	C	A	A	A	234	18	TTN	5	2
SF3B1	23451	broad.mit.edu	37	2	198266709	198266709	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198266709C>G	uc002uue.2	-	c.2223G>C	c.(2221-2223)AAG>AAC	p.K741N		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	741					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)											0.378788	75.457402	76.308887	25	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198266709	198266709	14638	2	C	G	G	G	311	24	SF3B1	3	3
SPAG16	79582	broad.mit.edu	37	2	214162030	214162030	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214162030G>T	uc002veq.2	+	c.228G>T	c.(226-228)CTG>CTT	p.L76L	SPAG16_uc010fuz.1_Missense_Mutation_p.W13L|SPAG16_uc002ver.2_Silent_p.L22L|SPAG16_uc010zjk.1_Missense_Mutation_p.W22L|SPAG16_uc002veo.2_Silent_p.L76L|SPAG16_uc002vep.1_Silent_p.L76L|SPAG16_uc002ves.1_Silent_p.L45L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	76					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.106667	6.244398	17.766099	8	67	KEEP	---	---	---	---	capture		Silent	SNP	214162030	214162030	15481	2	G	T	T	T	600	47	SPAG16	2	2
INPP5D	3635	broad.mit.edu	37	2	234112954	234112954	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234112954C>T	uc010zmo.1	+	c.3158C>T	c.(3157-3159)CCC>CTC	p.P1053L	INPP5D_uc010zmp.1_Missense_Mutation_p.P1052L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	1053	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		NSCLC(82;1215 1426 16163 20348 41018)				816				0.104478	6.518814	16.907755	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234112954	234112954	8057	2	C	T	T	T	286	22	INPP5D	2	2
UGT1A10	54575	broad.mit.edu	37	2	234545808	234545808	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234545808T>A	uc002vur.2	+	c.640T>A	c.(640-642)TTG>ATG	p.L214M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.L214M	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	214					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.17942	138.375688	175.020641	68	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234545808	234545808	17503	2	T	A	A	A	725	56	UGT1A10	3	3
DPYSL5	56896	broad.mit.edu	37	2	27150120	27150120	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27150120G>T	uc002rhu.3	+	c.421_splice	c.e4-1	p.V141_splice	DPYSL5_uc002rhv.3_Splice_Site_SNP_p.V141_splice	NM_020134	NP_064519			dihydropyrimidinase-like 5						axon guidance|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.551724	48.900393	48.967604	16	13	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	27150120	27150120	4934	2	G	T	T	T	455	35	DPYSL5	5	2
BRE	9577	broad.mit.edu	37	2	28521252	28521252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28521252C>T	uc002rls.2	+	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	BRE_uc002rlp.1_Nonsense_Mutation_p.Q328*|BRE_uc002rlq.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlr.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlt.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlu.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlv.2_Nonsense_Mutation_p.Q190*|BRE_uc002rlx.2_Non-coding_Transcript	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A	328	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.285266	238.454687	251.683603	91	228	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28521252	28521252	1540	2	C	T	T	T	377	29	BRE	5	2
C2orf71	388939	broad.mit.edu	37	2	29295827	29295827	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29295827C>A	uc002rmt.1	-	c.1301G>T	c.(1300-1302)TGC>TTC	p.C434F		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	434					response to stimulus|visual perception	photoreceptor outer segment					0														0.386076	176.12489	177.926473	61	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29295827	29295827	2279	2	C	A	A	A	325	25	C2orf71	2	2
BIRC6	57448	broad.mit.edu	37	2	32667152	32667152	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32667152T>A	uc010ezu.2	+	c.3964T>A	c.(3964-3966)TTA>ATA	p.L1322I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1322					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)			p.L1322L(SNU1040-Tumor)	1555				0.166667	30.367812	39.849172	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32667152	32667152	1463	2	T	A	A	A	777	60	BIRC6	3	3
FAM98A	25940	broad.mit.edu	37	2	33810265	33810265	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33810265G>A	uc002rpa.1	-	c.1135C>T	c.(1135-1137)CAT>TAT	p.H379Y	FAM98A_uc010yne.1_Missense_Mutation_p.H184Y|FAM98A_uc010ynd.1_Missense_Mutation_p.H210Y|FAM98A_uc002roz.1_Missense_Mutation_p.H217Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	380	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)													0.348958	171.935481	175.814642	67	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33810265	33810265	5892	2	G	A	A	A	598	46	FAM98A	2	2
FAM98A	25940	broad.mit.edu	37	2	33810355	33810355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33810355C>A	uc002rpa.1	-	c.1045G>T	c.(1045-1047)GGA>TGA	p.G349*	FAM98A_uc010yne.1_Nonsense_Mutation_p.G154*|FAM98A_uc010ynd.1_Nonsense_Mutation_p.G180*|FAM98A_uc002roz.1_Nonsense_Mutation_p.G187*	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	350	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)													0.309211	138.075087	143.001602	47	105	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33810355	33810355	5892	2	C	A	A	A	299	23	FAM98A	5	1
SLC8A1	6546	broad.mit.edu	37	2	40655830	40655830	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40655830T>A	uc002rrx.2	-	c.1591A>T	c.(1591-1593)ATT>TTT	p.I531F	SLC8A1_uc002rry.2_Missense_Mutation_p.I531F|SLC8A1_uc002rrz.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsa.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsd.3_Missense_Mutation_p.I531F|SLC8A1_uc002rsb.1_Missense_Mutation_p.I531F|SLC8A1_uc010fan.1_Missense_Mutation_p.I531F|SLC8A1_uc002rsc.1_Missense_Mutation_p.I531F	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	531	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.307143	123.280588	127.918744	43	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40655830	40655830	15203	2	T	A	A	A	637	49	SLC8A1	3	3
MSH2	4436	broad.mit.edu	37	2	47656893	47656893	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47656893G>T	uc002rvz.2	+	c.1089G>T	c.(1087-1089)GTG>GTT	p.V363V	MSH2_uc010yoh.1_Silent_p.V297V|MSH2_uc002rvy.1_Silent_p.V363V|MSH2_uc010fbg.2_Silent_p.V173V	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	363					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(1)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							715				0.163265	16.366288	21.64733	8	41	KEEP	---	---	---	---	capture		Silent	SNP	47656893	47656893	10263	2	G	T	T	T	600	47	MSH2	2	2
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765580G>T	uc010fbq.2	-	c.2074C>A	c.(2074-2076)CAA>AAA	p.Q692K	NRXN1_uc002rxb.3_Missense_Mutation_p.Q324K|NRXN1_uc002rxe.3_Missense_Mutation_p.Q652K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.32732	354.401213	364.65753	127	261	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765580	50765580	11070	2	G	T	T	T	611	47	NRXN1	2	2
RSAD2	91543	broad.mit.edu	37	2	7036027	7036027	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:7036027G>A	uc002qyp.1	+	c.1040G>A	c.(1039-1041)GGA>GAA	p.G347E		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	347					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)										0.212121	32.310622	37.369297	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7036027	7036027	14175	2	G	A	A	A	533	41	RSAD2	2	2
LRRTM4	80059	broad.mit.edu	37	2	76975866	76975867	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:76975866_76975867GG>TT	uc002snr.2	-	c.1727_1728CC>AA	c.(1726-1728)GCC>GAA	p.A576E	LRRTM4_uc002snq.2_Missense_Mutation_p.A576E	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	576	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.205714	85.522221	99.561219	36	139	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76975866	76975867	9418	2	GG	TT	TT	TT	600	47	LRRTM4	2	2
KIAA1310	55683	broad.mit.edu	37	2	97274401	97274401	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97274401C>A	uc002swn.3	-	c.1585G>T	c.(1585-1587)GAT>TAT	p.D529Y	KIAA1310_uc002swh.3_Missense_Mutation_p.D417Y|KIAA1310_uc002swi.3_Missense_Mutation_p.D430Y|KIAA1310_uc002swj.3_Non-coding_Transcript|KIAA1310_uc002swk.3_Missense_Mutation_p.D442Y|KIAA1310_uc010fhz.2_Missense_Mutation_p.D323Y|KIAA1310_uc002swl.3_Missense_Mutation_p.D430Y|KIAA1310_uc002swm.3_Non-coding_Transcript|KIAA1310_uc010yur.1_Missense_Mutation_p.D323Y|KIAA1310_uc002swp.1_Missense_Mutation_p.D430Y	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	529				D -> G (in Ref. 4; BAA91437).							0														0.269231	51.435659	55.187671	21	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97274401	97274401	8531	2	C	A	A	A	390	30	KIAA1310	2	2
GPR128	84873	broad.mit.edu	37	3	100373932	100373932	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100373932G>A	uc003duc.2	+	c.1633G>A	c.(1633-1635)GCA>ACA	p.A545T	GPR128_uc011bhc.1_Missense_Mutation_p.A246T|GPR128_uc003dud.2_Missense_Mutation_p.A68T	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	545	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.160338	68.203972	94.23348	38	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100373932	100373932	6915	3	G	A	A	A	494	38	GPR128	1	1
ATP2B2	491	broad.mit.edu	37	3	10420009	10420009	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10420009G>A	uc003bvt.2	-	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A	ATP2B2_uc003bvv.2_Silent_p.A331A|ATP2B2_uc003bvw.2_Silent_p.A331A|ATP2B2_uc010hdo.2_Silent_p.A81A	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	376	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.156977	47.856005	67.13604	27	145	KEEP	---	---	---	---	capture		Silent	SNP	10420009	10420009	1159	3	G	A	A	A	600	47	ATP2B2	2	2
KIAA2018	205717	broad.mit.edu	37	3	113388977	113388977	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113388977G>A	uc003eam.2	-	c.150C>T	c.(148-150)GCC>GCT	p.A50A	KIAA2018_uc003eal.2_5'UTR	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	50	Helix-loop-helix motif.					membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.095652	9.18836	28.004886	11	104	KEEP	---	---	---	---	capture		Silent	SNP	113388977	113388977	8579	3	G	A	A	A	548	43	KIAA2018	2	2
IGSF11	152404	broad.mit.edu	37	3	118624531	118624531	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118624531G>T	uc003ebw.2	-	c.615C>A	c.(613-615)ATC>ATA	p.I205I	IGSF11_uc011biv.1_Silent_p.I205I|IGSF11_uc003ebx.2_Silent_p.I205I|IGSF11_uc003eby.2_Silent_p.I204I|IGSF11_uc003ebz.2_Silent_p.I204I|IGSF11_uc010hqs.2_Silent_p.I204I	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	205	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.13	17.50922	30.828886	13	87	KEEP	---	---	---	---	capture		Silent	SNP	118624531	118624531	7899	3	G	T	T	T	577	45	IGSF11	2	2
C3orf1	51300	broad.mit.edu	37	3	119222382	119222382	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119222382T>G	uc003ecn.2	+	c.364T>G	c.(364-366)TCT>GCT	p.S122A	C3orf1_uc003eco.2_Non-coding_Transcript|C3orf1_uc003ecp.2_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	CC001_HUMAN	hypothetical protein LOC51300	122						integral to membrane|mitochondrial inner membrane	protein transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.186)										0.151515	12.855998	16.690905	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119222382	119222382	2298	3	T	G	G	G	650	50	C3orf1	4	4
STXBP5L	9515	broad.mit.edu	37	3	120952514	120952514	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120952514T>C	uc003eec.3	+	c.1163T>C	c.(1162-1164)GTA>GCA	p.V388A	STXBP5L_uc011bji.1_Missense_Mutation_p.V388A	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	388	WD 7.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.207547	32.79987	36.9954	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120952514	120952514	15877	3	T	C	C	C	741	57	STXBP5L	4	4
SLC12A8	84561	broad.mit.edu	37	3	124802813	124802813	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124802813T>A	uc003ehw.3	-	c.2153A>T	c.(2152-2154)GAG>GTG	p.E718V	SLC12A8_uc003ehv.3_Missense_Mutation_p.E689V|SLC12A8_uc003eht.3_Missense_Mutation_p.E490V|SLC12A8_uc003ehu.3_Missense_Mutation_p.E442V|SLC12A8_uc010hry.2_3'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity				0														0.3125	38.805865	40.309095	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124802813	124802813	14884	3	T	A	A	A	702	54	SLC12A8	3	3
TMEM40	55287	broad.mit.edu	37	3	12777053	12777053	+	Splice_Site_SNP	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12777053C>T	uc011auv.1	-	c.730_splice	c.e11+1	p.G244_splice	TMEM40_uc003bxg.1_Splice_Site_SNP_p.G228_splice|TMEM40_uc003bxh.1_Splice_Site_SNP_p.G198_splice|TMEM40_uc003bxi.1_Splice_Site_SNP_p.G152_splice	NM_018306	NP_060776			transmembrane protein 40							integral to membrane					0														0.161538	39.893977	54.059324	21	109	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	12777053	12777053	16702	3	C	T	T	T	234	18	TMEM40	5	2
FBLN2	2199	broad.mit.edu	37	3	13679148	13679148	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13679148C>T	uc011ava.1	+	c.3425C>T	c.(3424-3426)ACG>ATG	p.T1142M	FBLN2_uc011auz.1_Missense_Mutation_p.T1121M|FBLN2_uc011avb.1_Missense_Mutation_p.T1095M|FBLN2_uc011avc.1_Missense_Mutation_p.T1142M	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	1095	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)											0.240741	29.745061	33.064857	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13679148	13679148	5935	3	C	T	T	T	247	19	FBLN2	1	1
DZIP1L	199221	broad.mit.edu	37	3	137816623	137816623	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137816623C>T	uc003erq.2	-	c.568G>A	c.(568-570)GCA>ACA	p.A190T	DZIP1L_uc003err.1_Missense_Mutation_p.A190T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	190						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2												OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.238095	10.261293	11.580216	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137816623	137816623	5050	3	C	T	T	T	325	25	DZIP1L	2	2
CHCHD4	131474	broad.mit.edu	37	3	14154566	14154566	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14154566C>T	uc003byi.3	-	c.289G>A	c.(289-291)GGG>AGG	p.G97R	CHCHD4_uc003byj.3_Missense_Mutation_p.G84R	NM_144636	NP_653237	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain	84	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space					0														0.145833	27.609556	39.167688	14	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14154566	14154566	3452	3	C	T	T	T	286	22	CHCHD4	2	2
ZIC1	7545	broad.mit.edu	37	3	147128282	147128282	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147128282T>A	uc003ewe.2	+	c.383T>A	c.(382-384)TTC>TAC	p.F128Y		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.193548	10.835359	13.552032	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147128282	147128282	18269	3	T	A	A	A	806	62	ZIC1	3	3
ZIC1	7545	broad.mit.edu	37	3	147128284	147128284	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147128284G>T	uc003ewe.2	+	c.385G>T	c.(385-387)GGG>TGG	p.G129W		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	129					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.212121	16.908934	19.435317	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147128284	147128284	18269	3	G	T	T	T	507	39	ZIC1	1	1
NMD3	51068	broad.mit.edu	37	3	160945076	160945076	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160945076A>T	uc003fec.2	+	c.221A>T	c.(220-222)GAA>GTA	p.E74V	NMD3_uc003feb.1_Missense_Mutation_p.E74V|NMD3_uc003fed.1_Missense_Mutation_p.E74V	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	74					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)											0.111111	9.094517	22.54631	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160945076	160945076	10891	3	A	T	T	T	117	9	NMD3	3	3
BCHE	590	broad.mit.edu	37	3	165548021	165548021	+	Silent	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165548021A>T	uc003fem.3	-	c.801T>A	c.(799-801)GCT>GCA	p.A267A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	267					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.246269	84.508457	92.362889	33	101	KEEP	---	---	---	---	capture		Silent	SNP	165548021	165548021	1379	3	A	T	T	T	184	15	BCHE	3	3
TTC14	151613	broad.mit.edu	37	3	180327803	180327803	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180327803G>T	uc003fkk.2	+	c.1786G>T	c.(1786-1788)GAT>TAT	p.D596Y	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	596							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.145882	92.347927	143.6244	62	363	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180327803	180327803	17235	3	G	T	T	T	429	33	TTC14	2	2
AHSG	197	broad.mit.edu	37	3	186335082	186335082	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186335082C>A	uc003fql.3	+	c.519C>A	c.(517-519)AAC>AAA	p.N173K	AHSG_uc003fqj.2_Missense_Mutation_p.N172K|AHSG_uc003fqk.3_Missense_Mutation_p.N172K|AHSG_uc003fqm.3_Missense_Mutation_p.N171K|AHSG_uc010hyp.2_Missense_Mutation_p.N135K	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	172	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)								OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.125	32.417945	53.299503	19	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186335082	186335082	423	3	C	A	A	A	246	19	AHSG	1	1
AZI2	64343	broad.mit.edu	37	3	28381959	28381959	+	Silent	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:28381959T>C	uc003ceb.2	-	c.150A>G	c.(148-150)AAA>AAG	p.K50K	AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.K50K|AZI2_uc003cee.3_Silent_p.K50K|AZI2_uc003ceg.2_Silent_p.K50K|AZI2_uc011axd.1_Silent_p.K50K|AZI2_uc003cef.2_Silent_p.K50K	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	50	Potential.					mitochondrion|plasma membrane				ovary(2)	2														0.329545	97.457737	99.717713	29	59	KEEP	---	---	---	---	capture		Silent	SNP	28381959	28381959	1262	3	T	C	C	C	777	60	AZI2	4	4
VILL	50853	broad.mit.edu	37	3	38040837	38040837	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38040837G>T	uc003chj.2	+	c.1089G>T	c.(1087-1089)TCG>TCT	p.S363S	VILL_uc003chl.2_Silent_p.S363S|VILL_uc010hgu.2_Silent_p.S193S	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	363					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)										0.166667	26.56232	34.140772	12	60	KEEP	---	---	---	---	capture		Silent	SNP	38040837	38040837	17732	3	G	T	T	T	470	37	VILL	1	1
SCN5A	6331	broad.mit.edu	37	3	38622447	38622447	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38622447C>A	uc003cio.2	-	c.3203G>T	c.(3202-3204)GGC>GTC	p.G1068V	SCN5A_uc003cin.2_Missense_Mutation_p.G1068V|SCN5A_uc003cil.3_Missense_Mutation_p.G1068V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1068V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1068V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1068V|SCN5A_uc010hhj.1_Missense_Mutation_p.G679V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1068					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.222222	23.537907	26.723803	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38622447	38622447	14404	3	C	A	A	A	338	26	SCN5A	2	2
ZNF621	285268	broad.mit.edu	37	3	40573808	40573808	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40573808G>C	uc003ckm.2	+	c.547G>C	c.(547-549)GAG>CAG	p.E183Q	ZNF621_uc003ckn.2_Missense_Mutation_p.E183Q|ZNF621_uc003cko.2_Missense_Mutation_p.E148Q|ZNF621_uc011aze.1_Missense_Mutation_p.E175Q	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	183	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)										0.353535	120.599595	122.470415	35	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40573808	40573808	18640	3	G	C	C	C	533	41	ZNF621	3	3
LTF	4057	broad.mit.edu	37	3	46496816	46496817	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46496816_46496817CC>AA	uc003cpq.2	-	c.615_616GG>TT	c.(613-618)CAGGAA>CATTAA	p.205_206QE>H*	LTF_uc003fzr.2_Nonsense_Mutation_p.161_162QE>H*|LTF_uc010hjh.2_Nonsense_Mutation_p.205_206QE>H*|LTF_uc003cpr.2_Nonsense_Mutation_p.192_193QE>H*	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	205_206	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)									0.145631	25.363807	37.796585	15	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	46496816	46496817	9455	3	CC	AA	AA	AA	390	30	LTF	5	2
COL7A1	1294	broad.mit.edu	37	3	48618353	48618353	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48618353G>T	uc003ctz.2	-	c.4942C>A	c.(4942-4944)CCG>ACG	p.P1648T	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1648	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)										0.285714	41.798414	44.09322	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48618353	48618353	3842	3	G	T	T	T	559	43	COL7A1	2	2
CDHR4	389118	broad.mit.edu	37	3	49836271	49836271	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49836271G>T	uc010hkz.2	-	c.483C>A	c.(481-483)CTC>CTA	p.L161L	CDHR4_uc003cxp.2_Missense_Mutation_p.P187T|CDHR4_uc011bcw.1_Silent_p.L161L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	161	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.225	17.14081	19.93782	9	31	KEEP	---	---	---	---	capture		Silent	SNP	49836271	49836271	3250	3	G	T	T	T	522	41	CDHR4	2	2
IFRD2	7866	broad.mit.edu	37	3	50326124	50326124	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50326124C>A	uc003czb.2	-	c.1540G>T	c.(1540-1542)GAG>TAG	p.E514*	IFRD2_uc011bdp.1_Nonsense_Mutation_p.E412*	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	412							binding			ovary(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)										0.44	60.934043	61.092243	22	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50326124	50326124	7855	3	C	A	A	A	416	32	IFRD2	5	2
ROBO2	6092	broad.mit.edu	37	3	77684057	77684057	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77684057C>A	uc003dpz.2	+	c.3992C>A	c.(3991-3993)ACC>AAC	p.T1331N	ROBO2_uc003dpy.3_Missense_Mutation_p.T1266N|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.T1270N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1284	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.282443	103.216644	108.788958	37	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77684057	77684057	13993	3	C	A	A	A	234	18	ROBO2	2	2
VGLL3	389136	broad.mit.edu	37	3	87018101	87018101	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87018101C>A	uc003dqn.2	-	c.576G>T	c.(574-576)CTG>CTT	p.L192L		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription regulator activity				0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)										0.155844	38.242899	55.653529	24	130	KEEP	---	---	---	---	capture		Silent	SNP	87018101	87018101	17727	3	C	A	A	A	314	25	VGLL3	2	2
ADH7	131	broad.mit.edu	37	4	100340162	100340162	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100340162C>A	uc003huv.1	-	c.978G>T	c.(976-978)TGG>TGT	p.W326C		NM_000673	NP_000664	P40394	ADH7_HUMAN	class IV alcohol dehydrogenase, mu or sigma	326					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			lung(2)	2				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)									0.2375	86.854499	96.944072	38	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100340162	100340162	314	4	C	A	A	A	390	30	ADH7	2	2
SPATA5	166378	broad.mit.edu	37	4	123868550	123868550	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123868550C>T	uc003iez.3	+	c.1621C>T	c.(1621-1623)CCC>TCC	p.P541S	SPATA5_uc003iey.2_Missense_Mutation_p.P540S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	541					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0														0.212903	71.464996	83.222261	33	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123868550	123868550	15521	4	C	T	T	T	234	18	SPATA5	2	2
FAT4	79633	broad.mit.edu	37	4	126242381	126242381	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126242381C>A	uc003ifj.3	+	c.4815C>A	c.(4813-4815)GAC>GAA	p.D1605E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1605	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.26087	153.618352	165.508195	60	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126242381	126242381	5928	4	C	A	A	A	233	18	FAT4	2	2
ZNF827	152485	broad.mit.edu	37	4	146823920	146823920	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146823920T>A	uc003ikn.2	-	c.491A>T	c.(490-492)CAG>CTG	p.Q164L	ZNF827_uc003ikm.2_Missense_Mutation_p.Q164L|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	164				Q -> R (in Ref. 2; BAC03591).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)													0.263514	104.455501	111.942637	39	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146823920	146823920	18779	4	T	A	A	A	715	55	ZNF827	3	3
RNF175	285533	broad.mit.edu	37	4	154631639	154631639	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154631639C>G	uc003int.2	-	c.869G>C	c.(868-870)TGG>TCG	p.W290S		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	290						integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)												0.157895	7.212099	9.332591	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154631639	154631639	13940	4	C	G	G	G	273	21	RNF175	3	3
TKTL2	84076	broad.mit.edu	37	4	164394546	164394546	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164394546G>T	uc003iqp.3	-	c.341C>A	c.(340-342)CCC>CAC	p.P114H		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	114						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.283186	78.983392	83.738537	32	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164394546	164394546	16465	4	G	T	T	T	559	43	TKTL2	2	2
NEK1	4750	broad.mit.edu	37	4	170428198	170428198	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170428198C>A	uc003isd.1	-	c.1997G>T	c.(1996-1998)TGG>TTG	p.W666L	NEK1_uc003isb.1_Missense_Mutation_p.W638L|NEK1_uc003isc.1_Missense_Mutation_p.W594L|NEK1_uc003ise.1_Missense_Mutation_p.W622L|NEK1_uc003isf.1_Missense_Mutation_p.W569L	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	638					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)						366				0.173913	8.284614	10.593871	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170428198	170428198	10720	4	C	A	A	A	273	21	NEK1	2	2
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189068316C>A	uc003izm.1	+	c.1197C>A	c.(1195-1197)CAC>CAA	p.H399Q	TRIML1_uc003izn.1_Missense_Mutation_p.H123Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.314894	223.144179	230.266359	74	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189068316	189068316	17100	4	C	A	A	A	246	19	TRIML1	1	1
LRRC66	339977	broad.mit.edu	37	4	52861722	52861722	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861722C>T	uc003gzi.2	-	c.1466G>A	c.(1465-1467)GGA>GAA	p.G489E		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	489						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.309524	143.033155	148.466464	52	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52861722	52861722	9393	4	C	T	T	T	390	30	LRRC66	2	2
SPATA18	132671	broad.mit.edu	37	4	52944926	52944926	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52944926C>A	uc003gzl.2	+	c.1046C>A	c.(1045-1047)GCA>GAA	p.A349E	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Missense_Mutation_p.A317E|SPATA18_uc003gzk.1_Missense_Mutation_p.A349E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	349					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)											0.166667	39.308801	52.581404	21	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52944926	52944926	15511	4	C	A	A	A	325	25	SPATA18	2	2
KIT	3815	broad.mit.edu	37	4	55593452	55593452	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55593452T>A	uc010igr.2	+	c.1609T>A	c.(1609-1611)TGC>AGC	p.C537S	KIT_uc010igs.2_Missense_Mutation_p.C533S|KIT_uc011bzw.1_Non-coding_Transcript|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	537	Helical; (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3041)|haematopoietic_and_lymphoid_tissue(1544)|skin(98)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(10)|lung(6)|thymus(5)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	4855	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			1		431				0.19469	105.878569	125.51845	44	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55593452	55593452	8641	4	T	A	A	A	767	59	KIT	3	3
KDR	3791	broad.mit.edu	37	4	55979649	55979649	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55979649C>A	uc003has.2	-	c.799_splice	c.e7-1	p.H267_splice	KDR_uc003hat.1_Splice_Site_SNP_p.H267_splice|KDR_uc011bzx.1_Splice_Site_SNP_p.H267_splice	NM_002253	NP_002244			kinase insert domain receptor precursor						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.258824	57.306676	61.787939	22	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	55979649	55979649	8445	4	C	A	A	A	364	28	KDR	5	2
C4orf50	389197	broad.mit.edu	37	4	5981934	5981934	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5981934C>G	uc003git.1	-	c.135G>C	c.(133-135)GAG>GAC	p.E45D		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	45	Potential.									pancreas(2)|breast(1)	3														0.358974	43.64014	44.322664	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5981934	5981934	2373	4	C	G	G	G	311	24	C4orf50	3	3
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62845321C>T	uc010ihh.2	+	c.2642C>T	c.(2641-2643)ACG>ATG	p.T881M	LPHN3_uc003hcq.3_Missense_Mutation_p.T881M|LPHN3_uc003hct.2_Missense_Mutation_p.T274M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	868	Helical; Name=1; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.252927	278.194499	301.863019	108	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62845321	62845321	9290	4	C	T	T	T	247	19	LPHN3	1	1
GNRHR	2798	broad.mit.edu	37	4	68619638	68619638	+	Missense_Mutation	SNP	C	T	T	rs104893842		TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68619638C>T	uc003hdn.2	-	c.416G>A	c.(415-417)CGC>CAC	p.R139H	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.R139H	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	139	Cytoplasmic (Potential).		R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro).		multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)									0.150538	23.595254	34.475552	14	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68619638	68619638	6818	4	C	T	T	T	351	27	GNRHR	1	1
DMP1	1758	broad.mit.edu	37	4	88584230	88584230	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88584230C>A	uc003hqv.2	+	c.1300C>A	c.(1300-1302)CAG>AAG	p.Q434K	DMP1_uc003hqw.2_Missense_Mutation_p.Q418K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	434					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)										0.355372	121.991994	124.265141	43	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88584230	88584230	4763	4	C	A	A	A	273	21	DMP1	2	2
GRID2	2895	broad.mit.edu	37	4	94693324	94693324	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94693324T>C	uc011cdt.1	+	c.2699T>C	c.(2698-2700)ATT>ACT	p.I900T	GRID2_uc011cdu.1_Missense_Mutation_p.I805T	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	900	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.353293	200.783024	203.949044	59	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94693324	94693324	7050	4	T	C	C	C	676	52	GRID2	4	4
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110407688T>A	uc003kpb.2	+	c.100T>A	c.(100-102)TGT>AGT	p.C34S	TSLP_uc003kpa.2_Non-coding_Transcript|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	34						extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)										0.426087	156.367405	156.912844	49	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110407688	110407688	17179	5	T	A	A	A	715	55	TSLP	3	3
FAM170A	340069	broad.mit.edu	37	5	118968566	118968566	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118968566G>T	uc003ksm.2	+	c.194G>T	c.(193-195)CGC>CTC	p.R65L	FAM170A_uc003ksl.2_Missense_Mutation_p.R65L|FAM170A_uc003ksn.2_Missense_Mutation_p.R65L|FAM170A_uc003kso.2_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	65						intracellular	zinc ion binding				0														0.343066	143.682172	146.663543	47	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118968566	118968566	5693	5	G	T	T	T	494	38	FAM170A	1	1
FBN2	2201	broad.mit.edu	37	5	127686687	127686687	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127686687C>A	uc003kuu.2	-	c.2685G>T	c.(2683-2685)AAG>AAT	p.K895N	FBN2_uc003kuv.2_Missense_Mutation_p.K862N	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	895					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.446429	146.619345	146.901485	50	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127686687	127686687	5939	5	C	A	A	A	311	24	FBN2	2	2
ACSL6	23305	broad.mit.edu	37	5	131323838	131323839	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131323838_131323839CC>AA	uc003kvx.1	-	c.733_734GG>TT	c.(733-735)GGC>TTC	p.G245F	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kvy.1_Missense_Mutation_p.G245F|ACSL6_uc003kwb.2_Missense_Mutation_p.G210F|ACSL6_uc010jdo.1_Missense_Mutation_p.G220F|ACSL6_uc003kvz.1_Missense_Mutation_p.G185F|ACSL6_uc003kwa.1_Missense_Mutation_p.G231F|ACSL6_uc010jdn.1_Missense_Mutation_p.G235F|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	220	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)							264				0.389313	456.051546	460.245126	153	240	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	131323838	131323839	182	5	CC	AA	AA	AA	338	26	ACSL6	2	2
PCDHGA5	56110	broad.mit.edu	37	5	140744233	140744233	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744233C>G	uc003lju.1	+	c.336C>G	c.(334-336)AAC>AAG	p.N112K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.N112K	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	112	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.40625	88.947497	89.436159	26	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140744233	140744233	11977	5	C	G	G	G	220	17	PCDHGA5	3	3
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140789266G>T	uc003lkj.1	+	c.1497G>T	c.(1495-1497)CTG>CTT	p.L499L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L499L	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	499	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.304348	37.629896	39.202858	14	32	KEEP	---	---	---	---	capture		Silent	SNP	140789266	140789266	11987	5	G	T	T	T	600	47	PCDHGB6	2	2
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145895383C>T	uc003lod.1	-	c.294G>A	c.(292-294)GCG>GCA	p.A98A		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			Pancreas(78;420 1386 18535 37114 49710)								0.152542	31.278946	44.908622	18	100	KEEP	---	---	---	---	capture		Silent	SNP	145895383	145895383	6932	5	C	T	T	T	236	19	GPR151	1	1
FAT2	2196	broad.mit.edu	37	5	150948412	150948412	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150948412G>T	uc003lue.3	-	c.81C>A	c.(79-81)TCC>TCA	p.S27S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S27S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	27	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.376712	158.276831	160.228897	55	91	KEEP	---	---	---	---	capture		Silent	SNP	150948412	150948412	5926	5	G	T	T	T	444	35	FAT2	2	2
TIMD4	91937	broad.mit.edu	37	5	156376676	156376676	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156376676A>C	uc003lwh.2	-	c.746T>G	c.(745-747)CTG>CGG	p.L249R	TIMD4_uc010jii.2_Missense_Mutation_p.L249R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	249	Ser-rich.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.133333	18.23999	29.983868	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156376676	156376676	16432	5	A	C	C	C	91	7	TIMD4	4	4
CYFIP2	26999	broad.mit.edu	37	5	156731349	156731349	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156731349C>G	uc003lwq.2	+	c.770C>G	c.(769-771)CCC>CGC	p.P257R	CYFIP2_uc011ddn.1_Missense_Mutation_p.P231R|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.P257R|CYFIP2_uc003lws.2_Missense_Mutation_p.P257R|CYFIP2_uc003lwt.2_Missense_Mutation_p.P135R|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.P135R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	257					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.094675	11.96722	39.852758	16	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156731349	156731349	4303	5	C	G	G	G	286	22	CYFIP2	3	3
CCNJL	79616	broad.mit.edu	37	5	159680488	159680488	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:159680488T>C	uc003lyb.1	-	c.1205A>G	c.(1204-1206)CAT>CGT	p.H402R	CCNJL_uc011dee.1_Missense_Mutation_p.H354R|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	402						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.526882	317.74361	317.860297	98	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159680488	159680488	3056	5	T	C	C	C	663	51	CCNJL	4	4
SLIT3	6586	broad.mit.edu	37	5	168093468	168093468	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168093468C>A	uc010jjg.2	-	c.4584G>T	c.(4582-4584)GCG>GCT	p.A1528A	SLIT3_uc003mab.2_Silent_p.A1521A	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1521	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.307692	23.249873	24.074282	8	18	KEEP	---	---	---	---	capture		Silent	SNP	168093468	168093468	15239	5	C	A	A	A	236	19	SLIT3	1	1
SLIT3	6586	broad.mit.edu	37	5	168201305	168201305	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168201305C>A	uc010jjg.2	-	c.1230G>T	c.(1228-1230)CTG>CTT	p.L410L	SLIT3_uc003mab.2_Silent_p.L410L|SLIT3_uc010jji.2_Silent_p.L410L|SLIT3_uc003mac.1_Silent_p.L207L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	410	LRR 11.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.406355	761.293609	765.880613	243	355	KEEP	---	---	---	---	capture		Silent	SNP	168201305	168201305	15239	5	C	A	A	A	210	17	SLIT3	2	2
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169697832G>T	uc003man.1	-	c.414C>A	c.(412-414)CCC>CCA	p.P138P	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	138					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)										0.195489	60.214533	71.680469	26	107	KEEP	---	---	---	---	capture		Silent	SNP	169697832	169697832	9016	5	G	T	T	T	496	39	LCP2	1	1
SLC34A1	6569	broad.mit.edu	37	5	176813237	176813237	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176813237C>A	uc003mgk.3	+	c.275C>A	c.(274-276)CCC>CAC	p.P92H		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	92	Cytoplasmic (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.383234	171.011159	173.022272	64	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176813237	176813237	15064	5	C	A	A	A	286	22	SLC34A1	2	2
IRX4	50805	broad.mit.edu	37	5	1878835	1878835	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1878835G>T	uc003jcz.2	-	c.808C>A	c.(808-810)CCG>ACG	p.P270T	IRX4_uc011cmf.1_Missense_Mutation_p.P131T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	270					heart development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0				GBM - Glioblastoma multiforme(108;0.242)										0.320755	42.055535	43.568754	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1878835	1878835	8150	5	G	T	T	T	546	42	IRX4	2	2
PRDM9	56979	broad.mit.edu	37	5	23517995	23517995	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23517995C>A	uc003jgo.2	+	c.307C>A	c.(307-309)CCT>ACT	p.P103T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	103					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.201493	126.44046	148.619412	54	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23517995	23517995	12906	5	C	A	A	A	234	18	PRDM9	2	2
PRDM9	56979	broad.mit.edu	37	5	23527675	23527675	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23527675C>A	uc003jgo.2	+	c.2478C>A	c.(2476-2478)CAC>CAA	p.H826Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	826	C2H2-type 12.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.199438	151.417628	181.773734	71	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23527675	23527675	12906	5	C	A	A	A	220	17	PRDM9	2	2
SLC45A2	51151	broad.mit.edu	37	5	33954552	33954552	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33954552G>A	uc003jid.2	-	c.946C>T	c.(946-948)CAC>TAC	p.H316Y	SLC45A2_uc003jie.2_Missense_Mutation_p.H316Y|SLC45A2_uc003jif.3_Missense_Mutation_p.S207L|SLC45A2_uc011coe.1_Missense_Mutation_p.S207L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	316	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.351064	91.84175	93.683301	33	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33954552	33954552	15138	5	G	A	A	A	585	45	SLC45A2	2	2
SKP2	6502	broad.mit.edu	37	5	36152975	36152975	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36152975G>T	uc003jkc.1	+	c.111G>T	c.(109-111)GGG>GGT	p.G37G	SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Silent_p.G37G|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)	3	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)							161				0.360248	161.895487	164.667455	58	103	KEEP	---	---	---	---	capture		Silent	SNP	36152975	36152975	14857	5	G	T	T	T	548	43	SKP2	2	2
EGFLAM	133584	broad.mit.edu	37	5	38418193	38418194	+	Missense_Mutation	DNP	GG	TC	TC			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38418193_38418194GG>TC	uc003jlc.1	+	c.1520_1521GG>TC	c.(1519-1521)CGG>CTC	p.R507L	EGFLAM_uc003jlb.1_Missense_Mutation_p.R507L|EGFLAM_uc003jle.1_Missense_Mutation_p.R273L|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	507	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.201058	94.252317	109.944554	38	151	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38418193	38418194	5155	5	GG	TC	TC	TC	507	39	EGFLAM	1	1
FGF10	2255	broad.mit.edu	37	5	44305247	44305247	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:44305247A>T	uc003jog.1	-	c.477T>A	c.(475-477)AAT>AAA	p.N159K		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	159					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|transcription activator activity|type 2 fibroblast growth factor receptor binding				0	Lung NSC(6;1.12e-06)													0.273632	157.060967	166.326446	55	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44305247	44305247	6076	5	A	T	T	T	102	8	FGF10	3	3
DHX29	54505	broad.mit.edu	37	5	54572988	54572988	+	Silent	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54572988T>C	uc003jpx.2	-	c.2232A>G	c.(2230-2232)ACA>ACG	p.T744T	DHX29_uc010ivw.2_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	744	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)	3		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)												0.246479	90.148243	98.466109	35	107	KEEP	---	---	---	---	capture		Silent	SNP	54572988	54572988	4682	5	T	C	C	C	652	51	DHX29	4	4
HTR1A	3350	broad.mit.edu	37	5	63257347	63257347	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63257347A>T	uc011cqt.1	-	c.200T>A	c.(199-201)CTG>CAG	p.L67Q		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	67	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.392157	60.8946	61.411871	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63257347	63257347	7736	5	A	T	T	T	91	7	HTR1A	3	3
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94224666C>A	uc003kkx.2	-	c.1851G>T	c.(1849-1851)AGG>AGT	p.R617S	MCTP1_uc003kkv.2_Missense_Mutation_p.R396S|MCTP1_uc003kkw.2_Missense_Mutation_p.R350S|MCTP1_uc003kkz.2_Missense_Mutation_p.R278S|MCTP1_uc003kku.2_Missense_Mutation_p.R133S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)										0.423913	112.507059	112.972187	39	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94224666	94224666	9789	5	C	A	A	A	389	30	MCTP1	2	2
RSPH4A	345895	broad.mit.edu	37	6	116938031	116938033	+	Missense	Complex_substitution	CNG	ANT	ANT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116938031C>A	uc003pxe.2	+	c.245C>A	c.(244-246)CCT>CAT	p.P82H	RSPH4A_uc010kee.2_Missense_Mutation_p.P82H	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	82					cilium axoneme assembly|cilium movement	cilium axoneme|cytoplasm|cytoskeleton|motile cilium|radial spoke					0														0.263158	35.957919	38.813508	15	42	KEEP	---	---	---	---	capture		Missense	Complex_substitution	116938031	116938033	14186	6	CNG	ANT	ANT	A	312	24	RSPH4A	5	5
LAMA2	3908	broad.mit.edu	37	6	129635942	129635943	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129635942_129635943GG>TT	uc003qbn.2	+	c.3554_3555GG>TT	c.(3553-3555)TGG>TTT	p.W1185F	LAMA2_uc003qbo.2_Missense_Mutation_p.W1185F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1185	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.235849	64.786909	71.588709	25	81	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	129635942	129635943	8929	6	GG	TT	TT	TT	611	47	LAMA2	2	2
LAMA2	3908	broad.mit.edu	37	6	129674483	129674483	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129674483C>T	uc003qbn.2	+	c.4698C>T	c.(4696-4698)CGC>CGT	p.R1566R	LAMA2_uc003qbo.2_Silent_p.R1566R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1566	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.272727	61.364269	65.459791	24	64	KEEP	---	---	---	---	capture		Silent	SNP	129674483	129674483	8929	6	C	T	T	T	340	27	LAMA2	1	1
MED23	9439	broad.mit.edu	37	6	131912668	131912668	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131912668C>A	uc003qcs.1	-	c.3472_splice	c.e26-1	p.E1158_splice	MED23_uc003qcq.2_Splice_Site_SNP_p.E1164_splice|MED23_uc003qcr.1_Splice_Site_SNP_p.E13_splice	NM_004830	NP_004821			mediator complex subunit 23 isoform a						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)										0.389831	63.991698	64.624815	23	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	131912668	131912668	9830	6	C	A	A	A	312	24	MED23	5	2
MOXD1	26002	broad.mit.edu	37	6	132649636	132649636	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132649636C>T	uc003qdf.2	-	c.761G>A	c.(760-762)GGC>GAC	p.G254D	MOXD1_uc003qde.2_Missense_Mutation_p.G186D	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	254	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)										0.293478	70.071787	73.595842	27	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132649636	132649636	10112	6	C	T	T	T	338	26	MOXD1	2	2
TBC1D7	51256	broad.mit.edu	37	6	13321220	13321220	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:13321220C>A	uc003naj.2	-	c.301G>T	c.(301-303)GCC>TCC	p.A101S	TBC1D7_uc011dis.1_Non-coding_Transcript|TBC1D7_uc003nan.2_Missense_Mutation_p.A101S|TBC1D7_uc003nal.2_Missense_Mutation_p.A101S|TBC1D7_uc003nam.2_Missense_Mutation_p.A101S|TBC1D7_uc003nao.2_Missense_Mutation_p.A74S|TBC1D7_uc010jpd.2_Missense_Mutation_p.A101S|TBC1D7_uc003nap.2_Missense_Mutation_p.A74S|TBC1D7_uc003naq.2_Missense_Mutation_p.A74S	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	101	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)											0.340541	360.321199	368.644246	126	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13321220	13321220	16150	6	C	A	A	A	325	25	TBC1D7	2	2
OPRM1	4988	broad.mit.edu	37	6	154411267	154411267	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:154411267C>A	uc011efe.1	+	c.876C>A	c.(874-876)GCC>GCA	p.A292A	OPRM1_uc011efb.1_Silent_p.A247A|OPRM1_uc011efc.1_Silent_p.A118A|OPRM1_uc011efd.1_Silent_p.A99A|OPRM1_uc003qpn.2_Silent_p.A199A|OPRM1_uc003qpo.1_Silent_p.A199A|OPRM1_uc011eff.1_Silent_p.A199A|OPRM1_uc011efg.1_Silent_p.A199A|OPRM1_uc011efh.1_Silent_p.A199A|OPRM1_uc003qpq.1_Silent_p.A199A|OPRM1_uc003qpr.2_Silent_p.A199A|OPRM1_uc003qpt.1_Silent_p.A199A|OPRM1_uc011efi.1_Silent_p.A199A|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.A99A|OPRM1_uc003qpu.2_Silent_p.A99A	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1H	199	Helical; Name=4; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.393162	136.722469	137.892253	46	71	KEEP	---	---	---	---	capture		Silent	SNP	154411267	154411267	11293	6	C	A	A	A	262	21	OPRM1	2	2
BAT5	7920	broad.mit.edu	37	6	31671050	31671050	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31671050C>A	uc003nvy.1	-	c.9G>T	c.(7-9)AAG>AAT	p.K3N	BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_Non-coding_Transcript|BAT5_uc011doa.1_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	3						integral to membrane	hydrolase activity|protein binding				0														0.333333	39.203741	40.313909	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31671050	31671050	1345	6	C	A	A	A	363	28	BAT5	2	2
HSPA1L	3305	broad.mit.edu	37	6	31779674	31779674	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31779674C>G	uc003nxh.2	-	c.76G>C	c.(76-78)GGC>CGC	p.G26R	HSPA1L_uc010jte.2_Missense_Mutation_p.G26R	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	26					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.207101	98.271326	111.674803	35	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31779674	31779674	7709	6	C	G	G	G	299	23	HSPA1L	3	3
GPR116	221395	broad.mit.edu	37	6	46826786	46826786	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46826786T>C	uc003oyo.3	-	c.2854A>G	c.(2854-2856)ACG>GCG	p.T952A	GPR116_uc011dwj.1_Missense_Mutation_p.T507A|GPR116_uc011dwk.1_Missense_Mutation_p.T381A|GPR116_uc003oyp.3_Missense_Mutation_p.T810A|GPR116_uc003oyq.3_Missense_Mutation_p.T952A|GPR116_uc010jzi.1_Missense_Mutation_p.T624A	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	952	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1			Lung(136;0.192)			NSCLC(59;410 1274 8751 36715 50546)								0.216867	98.809336	111.085295	36	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46826786	46826786	6907	6	T	C	C	C	780	60	GPR116	4	4
EXOC2	55770	broad.mit.edu	37	6	549257	549257	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:549257C>G	uc003mtd.2	-	c.2156G>C	c.(2155-2157)TGC>TCC	p.C719S	EXOC2_uc003mte.2_Missense_Mutation_p.C719S|EXOC2_uc011dho.1_Missense_Mutation_p.C314S	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	719					exocytosis|protein transport					ovary(2)|breast(2)|pancreas(1)	5	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)										0.26	162.502746	172.935851	52	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	549257	549257	5495	6	C	G	G	G	325	25	EXOC2	3	3
DST	667	broad.mit.edu	37	6	56516040	56516041	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56516040_56516041GG>AT	uc003pdf.2	-	c.1117_1118CC>AT	c.(1117-1119)CCG>ATG	p.P373M	DST_uc003pcz.3_Missense_Mutation_p.P195M|DST_uc011dxj.1_Missense_Mutation_p.P224M|DST_uc011dxk.1_Missense_Mutation_p.P235M|DST_uc011dxl.1_Missense_Mutation_p.P224M|DST_uc003pde.2_Missense_Mutation_p.P311M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	195	CH 2.|Actin-binding.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.3	16.341934	17.056844	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	56516040	56516041	4967	6	GG	AT	AT	AT	495	39	DST	1	1
HUS1B	135458	broad.mit.edu	37	6	656317	656317	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:656317G>A	uc003mtg.2	-	c.628C>T	c.(628-630)CCT>TCT	p.P210S	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	210											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)										0.226708	181.506951	203.591503	73	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	656317	656317	7760	6	G	A	A	A	559	43	HUS1B	2	2
MUC17	140453	broad.mit.edu	37	7	100663463	100663463	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100663463T>A	uc003uxp.1	+	c.47T>A	c.(46-48)CTC>CAC	p.L16H	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	16						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.602151	163.495553	164.342859	56	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100663463	100663463	10368	7	T	A	A	A	702	54	MUC17	3	3
NRCAM	4897	broad.mit.edu	37	7	107830179	107830179	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107830179G>T	uc003vfb.2	-	c.1945C>A	c.(1945-1947)CCT>ACT	p.P649T	NRCAM_uc003vfc.2_Missense_Mutation_p.P633T|NRCAM_uc011kmk.1_Missense_Mutation_p.P644T|NRCAM_uc003vfd.2_Missense_Mutation_p.P625T|NRCAM_uc003vfe.2_Missense_Mutation_p.P625T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	649	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.625	107.629747	108.395923	35	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107830179	107830179	11049	7	G	T	T	T	533	41	NRCAM	2	2
PHF14	9678	broad.mit.edu	37	7	11068363	11068363	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11068363G>T	uc003srz.2	+	c.1373G>T	c.(1372-1374)TGT>TTT	p.C458F	PHF14_uc003sry.1_Missense_Mutation_p.C458F|PHF14_uc011jxi.1_Missense_Mutation_p.C173F|PHF14_uc011jxj.1_Missense_Mutation_p.C173F	NM_001007157	NP_001007158	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 1	458							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)										0.316964	208.346891	215.018501	71	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11068363	11068363	12248	7	G	T	T	T	624	48	PHF14	2	2
PPP1R3A	5506	broad.mit.edu	37	7	113519512	113519512	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113519512C>G	uc010ljy.1	-	c.1635G>C	c.(1633-1635)ATG>ATC	p.M545I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	545					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.55303	259.1865	259.508994	73	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113519512	113519512	12806	7	C	G	G	G	273	21	PPP1R3A	3	3
THSD7A	221981	broad.mit.edu	37	7	11486977	11486977	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11486977C>A	uc003ssf.3	-	c.2680G>T	c.(2680-2682)GCC>TCC	p.A894S		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	894	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.230769	36.81152	42.008179	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11486977	11486977	16407	7	C	A	A	A	364	28	THSD7A	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121650791	121650791	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121650791C>G	uc003vjy.2	+	c.1691C>G	c.(1690-1692)TCT>TGT	p.S564C	PTPRZ1_uc003vjz.2_Missense_Mutation_p.S564C|PTPRZ1_uc011knt.1_Missense_Mutation_p.S14C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	564	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.621053	227.650345	228.871596	59	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121650791	121650791	13272	7	C	G	G	G	416	32	PTPRZ1	3	3
TMEM106B	54664	broad.mit.edu	37	7	12270059	12270059	+	Silent	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:12270059T>C	uc011jxk.1	+	c.627T>C	c.(625-627)TAT>TAC	p.Y209Y	TMEM106B_uc003ssh.2_Silent_p.Y209Y	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	209						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)										0.392045	251.746827	253.539693	69	107	KEEP	---	---	---	---	capture		Silent	SNP	12270059	12270059	16551	7	T	C	C	C	634	49	TMEM106B	4	4
IQUB	154865	broad.mit.edu	37	7	123105065	123105065	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123105065T>A	uc003vkn.2	-	c.1582_splice	c.e10-1	p.E528_splice	IQUB_uc003vko.2_Splice_Site_SNP_p.E528_splice|IQUB_uc010lkt.2_Splice_Site_SNP|IQUB_uc003vkp.1_Splice_Site_SNP_p.E528_splice	NM_178827	NP_849149			IQ motif and ubiquitin domain containing											ovary(3)|large_intestine(1)	4														0.579545	336.48017	337.453385	102	74	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123105065	123105065	8123	7	T	A	A	A	689	53	IQUB	5	3
ARF5	381	broad.mit.edu	37	7	127231266	127231266	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127231266G>T	uc003vmb.1	+	c.457_splice	c.e6-1	p.W153_splice	FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	NM_001662	NP_001653			ADP-ribosylation factor 5						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1														0.44186	118.738036	118.991434	38	48	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	127231266	127231266	858	7	G	T	T	T	468	36	ARF5	5	2
CCDC136	64753	broad.mit.edu	37	7	128452070	128452071	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128452070_128452071GG>TT	uc003vnv.1	+	c.2245_2246GG>TT	c.(2245-2247)GGT>TTT	p.G749F	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.G565F|CCDC136_uc010llq.1_Missense_Mutation_p.G118F|CCDC136_uc003vny.1_Missense_Mutation_p.G359F	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral to membrane	protein binding			ovary(2)	2														0.564626	279.238441	279.772381	83	64	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	128452070	128452071	2890	7	GG	TT	TT	TT	611	47	CCDC136	2	2
FLNC	2318	broad.mit.edu	37	7	128486498	128486498	+	Silent	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128486498C>A	uc003vnz.3	+	c.4108C>A	c.(4108-4110)CGA>AGA	p.R1370R	FLNC_uc003voa.3_Silent_p.R1370R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1370	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.456897	166.689497	166.872278	53	63	KEEP	---	---	---	---	capture		Silent	SNP	128486498	128486498	6177	7	C	A	A	A	295	23	FLNC	1	1
FLNC	2318	broad.mit.edu	37	7	128487758	128487758	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128487758G>A	uc003vnz.3	+	c.4296G>A	c.(4294-4296)CCG>CCA	p.P1432P	FLNC_uc003voa.3_Silent_p.P1432P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1432	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.143836	31.588398	49.419695	21	125	KEEP	---	---	---	---	capture		Silent	SNP	128487758	128487758	6177	7	G	A	A	A	509	40	FLNC	1	1
TSGA13	114960	broad.mit.edu	37	7	130353924	130353924	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130353924G>T	uc003vqi.2	-	c.758C>A	c.(757-759)CCC>CAC	p.P253H	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.P253H	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	253										ovary(2)	2	Melanoma(18;0.0435)													0.586572	522.561125	524.407509	166	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130353924	130353924	17170	7	G	T	T	T	559	43	TSGA13	2	2
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131830026C>A	uc003vra.3	-	c.5077G>T	c.(5077-5079)GAT>TAT	p.D1693Y	PLXNA4_uc003vqz.3_5'UTR	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1693	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.52	76.241249	76.258212	26	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131830026	131830026	12548	7	C	A	A	A	390	30	PLXNA4	2	2
NUP205	23165	broad.mit.edu	37	7	135304240	135304240	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135304240C>T	uc003vsw.2	+	c.4033C>T	c.(4033-4035)CAC>TAC	p.H1345Y	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1345					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.158333	30.35211	43.714171	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135304240	135304240	11164	7	C	T	T	T	377	29	NUP205	2	2
MGAM	8972	broad.mit.edu	37	7	141755521	141755521	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141755521C>A	uc003vwy.2	+	c.3478C>A	c.(3478-3480)CCA>ACA	p.P1160T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1160	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.472222	151.024325	151.095858	51	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141755521	141755521	9931	7	C	A	A	A	286	22	MGAM	2	2
HDAC9	9734	broad.mit.edu	37	7	18688221	18688221	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18688221C>G	uc003sui.2	+	c.1382C>G	c.(1381-1383)ACG>AGG	p.T461R	HDAC9_uc003sue.2_Missense_Mutation_p.T458R|HDAC9_uc011jyd.1_Missense_Mutation_p.T458R|HDAC9_uc003suh.2_Missense_Mutation_p.T458R|HDAC9_uc003suj.2_Missense_Mutation_p.T417R|HDAC9_uc011jya.1_Missense_Mutation_p.T455R|HDAC9_uc003sua.1_Missense_Mutation_p.T436R|HDAC9_uc011jyb.1_Missense_Mutation_p.T414R|HDAC9_uc003sud.1_Missense_Mutation_p.T458R|HDAC9_uc011jyc.1_Missense_Mutation_p.T417R|HDAC9_uc003suf.1_Missense_Mutation_p.T489R|HDAC9_uc010kud.1_Missense_Mutation_p.T461R|HDAC9_uc011jye.1_Missense_Mutation_p.T430R|HDAC9_uc011jyf.1_Missense_Mutation_p.T381R|HDAC9_uc010kue.1_Missense_Mutation_p.T201R	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	458					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.294416	179.673675	187.1249	58	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18688221	18688221	7297	7	C	G	G	G	247	19	HDAC9	3	3
ABCA13	154664	broad.mit.edu	37	7	48416095	48416095	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48416095G>T	uc003toq.2	+	c.11261G>T	c.(11260-11262)TGG>TTG	p.W3754L	ABCA13_uc010kys.1_Missense_Mutation_p.W828L|ABCA13_uc003tos.1_Missense_Mutation_p.W580L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3754	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.209459	146.844107	169.928714	62	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48416095	48416095	32	7	G	T	T	T	611	47	ABCA13	2	2
ZNF680	340252	broad.mit.edu	37	7	64004155	64004155	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64004155C>G	uc003tta.2	-	c.183G>C	c.(181-183)CTG>CTC	p.L61L	ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Silent_p.L61L	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)												0.313008	254.783933	262.440767	77	169	KEEP	---	---	---	---	capture		Silent	SNP	64004155	64004155	18682	7	C	G	G	G	366	29	ZNF680	3	3
SEMA3D	223117	broad.mit.edu	37	7	84669987	84669987	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84669987A>T	uc003uic.2	-	c.1046_splice	c.e9+1	p.S349_splice	SEMA3D_uc010led.2_Splice_Site_SNP_p.S349_splice|SEMA3D_uc003uib.2_Splice_Site_SNP	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.489796	76.497795	76.502231	24	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	84669987	84669987	14513	7	A	T	T	T	182	14	SEMA3D	5	3
PILRA	29992	broad.mit.edu	37	7	99971855	99971855	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99971855A>T	uc003uuo.1	+	c.253A>T	c.(253-255)AGG>TGG	p.R85W	PILRA_uc011kjn.1_Missense_Mutation_p.R85W|PILRA_uc011kjo.1_Missense_Mutation_p.R85W|PILRA_uc003uup.1_Missense_Mutation_p.R85W|PILRA_uc003uuq.1_Missense_Mutation_p.R85W	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	85	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.448087	236.617194	237.047641	82	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99971855	99971855	12349	7	A	T	T	T	36	3	PILRA	3	3
XKR6	286046	broad.mit.edu	37	8	10755798	10755798	+	Silent	SNP	C	A	A	rs61745501		TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10755798C>A	uc003wtk.1	-	c.1590G>T	c.(1588-1590)GCG>GCT	p.A530A		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	530						integral to membrane				ovary(1)	1				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)										0.333333	69.511136	71.204022	23	46	KEEP	---	---	---	---	capture		Silent	SNP	10755798	10755798	18016	8	C	A	A	A	340	27	XKR6	1	1
GATA4	2626	broad.mit.edu	37	8	11607724	11607724	+	Silent	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11607724C>G	uc011kxc.1	+	c.891C>G	c.(889-891)GGC>GGG	p.G297G	GATA4_uc003wub.1_Silent_p.G90G|GATA4_uc003wuc.2_Silent_p.G296G	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	296			G -> S (in ASD2).		atrial septum primum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|promoter binding|specific RNA polymerase II transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)										0.362637	110.74503	112.257979	33	58	KEEP	---	---	---	---	capture		Silent	SNP	11607724	11607724	6520	8	C	G	G	G	327	26	GATA4	3	3
ZNF705D	728957	broad.mit.edu	37	8	11970596	11970596	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11970596C>A	uc003wva.2	+	c.832C>A	c.(832-834)CAC>AAC	p.H278N	FAM66D_uc011kxp.1_5'Flank|FAM66D_uc011kxo.1_5'Flank	NM_001039615	NP_001034704	P0CH99	Z705D_HUMAN	zinc finger protein 705D	278	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.131579	14.192809	24.222795	10	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11970596	11970596	18704	8	C	A	A	A	377	29	ZNF705D	2	2
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133673737G>T	uc003ytk.2	-	c.147C>A	c.(145-147)CTC>CTA	p.L49L	LRRC6_uc003ytl.2_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	49	LRR 2.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.142857	15.001694	23.607931	10	60	KEEP	---	---	---	---	capture		Silent	SNP	133673737	133673737	9391	8	G	T	T	T	418	33	LRRC6	2	2
TG	7038	broad.mit.edu	37	8	134042065	134042065	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134042065G>T	uc003ytw.2	+	c.7037_splice	c.e41-1	p.G2346_splice	TG_uc010mdw.2_Splice_Site_SNP_p.G1105_splice|TG_uc011ljb.1_Splice_Site_SNP_p.G715_splice|TG_uc011ljc.1_Splice_Site_SNP_p.G479_splice	NM_003235	NP_003226			thyroglobulin precursor						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				0.276923	47.254193	50.145903	18	47	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	134042065	134042065	16341	8	G	T	T	T	455	35	TG	5	2
FAM135B	51059	broad.mit.edu	37	8	139151256	139151256	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139151256A>T	uc003yuy.2	-	c.3874T>A	c.(3874-3876)TTC>ATC	p.F1292I	FAM135B_uc003yux.2_Missense_Mutation_p.F1193I|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1292										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.198413	48.62876	59.282787	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139151256	139151256	5646	8	A	T	T	T	13	1	FAM135B	3	3
BAI1	575	broad.mit.edu	37	8	143623594	143623594	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143623594G>T	uc003ywm.2	+	c.3999G>T	c.(3997-3999)CTG>CTT	p.L1333L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1333	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.393162	128.41864	129.589481	46	71	KEEP	---	---	---	---	capture		Silent	SNP	143623594	143623594	1319	8	G	T	T	T	574	45	BAI1	2	2
EPPK1	83481	broad.mit.edu	37	8	144942384	144942384	+	Silent	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144942384G>A	uc003zaa.1	-	c.5038C>T	c.(5038-5040)CTG>TTG	p.L1680L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1680	Plectin 29.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.179104	53.714079	66.700266	24	110	KEEP	---	---	---	---	capture		Silent	SNP	144942384	144942384	5383	8	G	A	A	A	451	35	EPPK1	2	2
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:20112440G>T	uc003wzr.2	-	c.253C>A	c.(253-255)CTG>ATG	p.L85M	LZTS1_uc010ltg.1_Missense_Mutation_p.L85M	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|regulation of transcription, DNA-dependent|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)										0.330189	100.187382	102.897269	35	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20112440	20112440	9515	8	G	T	T	T	464	36	LZTS1	2	2
ADAM7	8756	broad.mit.edu	37	8	24350690	24350690	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24350690A>T	uc003xeb.2	+	c.1790A>T	c.(1789-1791)GAT>GTT	p.D597V	ADAM7_uc003xec.2_Missense_Mutation_p.D369V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	597	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			kidney(1)	1		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)										0.328767	72.477564	74.373953	24	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24350690	24350690	252	8	A	T	T	T	156	12	ADAM7	3	3
PTK2B	2185	broad.mit.edu	37	8	27312084	27312084	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27312084G>T	uc003xfn.1	+	c.2770G>T	c.(2770-2772)GTG>TTG	p.V924L	PTK2B_uc003xfo.1_Missense_Mutation_p.V924L|PTK2B_uc003xfp.1_Missense_Mutation_p.V924L|PTK2B_uc003xfq.1_Missense_Mutation_p.V882L	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	924	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			ovary(1)|skin(1)	2		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)						347				0.127907	18.968117	30.569344	11	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27312084	27312084	13218	8	G	T	T	T	520	40	PTK2B	1	1
CSMD1	64478	broad.mit.edu	37	8	2876097	2876097	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2876097G>C	uc011kwk.1	-	c.7934C>G	c.(7933-7935)GCT>GGT	p.A2645G	CSMD1_uc011kwj.1_Missense_Mutation_p.A1974G|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2645	Extracellular (Potential).|Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.150538	91.20506	123.980572	42	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2876097	2876097	4085	8	G	C	C	C	442	34	CSMD1	3	3
GOT1L1	137362	broad.mit.edu	37	8	37794885	37794885	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37794885G>T	uc011lbj.1	-	c.429C>A	c.(427-429)TTC>TTA	p.F143L		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	143					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)											0.423077	30.058239	30.204539	11	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37794885	37794885	6853	8	G	T	T	T	529	41	GOT1L1	2	2
SNTG1	54212	broad.mit.edu	37	8	51351136	51351136	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51351136G>A	uc010lxy.1	+	c.196G>A	c.(196-198)GGA>AGA	p.G66R	SNTG1_uc003xqs.1_Missense_Mutation_p.G66R|SNTG1_uc010lxz.1_Missense_Mutation_p.G66R|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	66	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)												0.214286	23.050228	26.217465	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51351136	51351136	15374	8	G	A	A	A	455	35	SNTG1	2	2
PXDNL	137902	broad.mit.edu	37	8	52287227	52287227	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52287227C>A	uc003xqu.3	-	c.3622G>T	c.(3622-3624)GGT>TGT	p.G1208C	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1208					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.1375	17.714226	27.847957	11	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52287227	52287227	13306	8	C	A	A	A	273	21	PXDNL	2	2
PXDNL	137902	broad.mit.edu	37	8	52320977	52320977	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52320977G>T	uc003xqu.3	-	c.3207C>A	c.(3205-3207)GCC>GCA	p.A1069A	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1069					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.370968	69.309151	70.216111	23	39	KEEP	---	---	---	---	capture		Silent	SNP	52320977	52320977	13306	8	G	T	T	T	600	47	PXDNL	2	2
PRDM14	63978	broad.mit.edu	37	8	70981463	70981463	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70981463G>T	uc003xym.2	-	c.633C>A	c.(631-633)CCC>CCA	p.P211P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			NSCLC(129;99 1813 5906 40656 46114)								0.299363	127.463599	133.111736	47	110	KEEP	---	---	---	---	capture		Silent	SNP	70981463	70981463	12897	8	G	T	T	T	600	47	PRDM14	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88886197	88886197	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88886197C>A	uc003ydz.2	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	1										ovary(1)	1														0.377049	68.307727	69.117955	23	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88886197	88886197	4443	8	C	A	A	A	273	21	DCAF4L2	2	2
GRIN3A	116443	broad.mit.edu	37	9	104432903	104432903	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104432903G>T	uc004bbp.1	-	c.1791C>A	c.(1789-1791)CTC>CTA	p.L597L	GRIN3A_uc004bbq.1_Silent_p.L597L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	597	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.141414	20.778131	33.064242	14	85	KEEP	---	---	---	---	capture		Silent	SNP	104432903	104432903	7062	9	G	T	T	T	418	33	GRIN3A	2	2
OR13C3	138803	broad.mit.edu	37	9	107298376	107298376	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107298376G>C	uc004bcb.1	-	c.719C>G	c.(718-720)CCA>CGA	p.P240R		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	240	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GBM(86;1248 1274 14222 15028 46219)								0.142857	33.495013	48.119838	17	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107298376	107298376	11341	9	G	C	C	C	611	47	OR13C3	3	3
SLC44A1	23446	broad.mit.edu	37	9	108127811	108127811	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:108127811G>T	uc004bcn.2	+	c.1301G>T	c.(1300-1302)CGC>CTC	p.R434L	SLC44A1_uc010mtk.1_Missense_Mutation_p.R434L|SLC44A1_uc004bco.1_Missense_Mutation_p.R226L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	434	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)									0.152381	31.732616	43.874442	16	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108127811	108127811	15132	9	G	T	T	T	494	38	SLC44A1	1	1
TLR4	7099	broad.mit.edu	37	9	120476354	120476354	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476354C>T	uc004bjz.2	+	c.1948C>T	c.(1948-1950)CTG>TTG	p.L650L	TLR4_uc004bka.2_Silent_p.L610L|TLR4_uc004bkb.2_Silent_p.L450L	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	650	Helical; (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.350877	55.859814	56.987917	20	37	KEEP	---	---	---	---	capture		Silent	SNP	120476354	120476354	16483	9	C	T	T	T	415	32	TLR4	2	2
GSN	2934	broad.mit.edu	37	9	124088797	124088797	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124088797T>C	uc004blf.1	+	c.1577T>C	c.(1576-1578)GTG>GCG	p.V526A	GSN_uc004bld.1_Missense_Mutation_p.V475A|GSN_uc010mvq.1_Missense_Mutation_p.V486A|GSN_uc010mvr.1_Missense_Mutation_p.V486A|GSN_uc010mvu.1_Missense_Mutation_p.V475A|GSN_uc010mvt.1_Missense_Mutation_p.V475A|GSN_uc010mvs.1_Missense_Mutation_p.V475A|GSN_uc004ble.1_Missense_Mutation_p.V475A|GSN_uc010mvv.1_Missense_Mutation_p.V475A|GSN_uc011lyh.1_Missense_Mutation_p.V492A|GSN_uc011lyi.1_Missense_Mutation_p.V475A|GSN_uc011lyj.1_Missense_Mutation_p.V499A|GSN_uc004blg.1_Missense_Mutation_p.V257A	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	526	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3														0.114286	9.556113	19.820946	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124088797	124088797	7105	9	T	C	C	C	767	59	GSN	4	4
TYRP1	7306	broad.mit.edu	37	9	12708116	12708116	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:12708116G>T	uc003zkv.3	+	c.1381G>T	c.(1381-1383)GGA>TGA	p.G461*		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	461	Lumenal, melanosome (Potential).				melanin biosynthetic process|oxidation-reduction process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)										0.388889	63.06502	63.648298	21	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12708116	12708116	17373	9	G	T	T	T	559	43	TYRP1	5	2
ENG	2022	broad.mit.edu	37	9	130588868	130588868	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130588868C>A	uc004bsj.3	-	c.444G>T	c.(442-444)GAG>GAT	p.E148D	ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Missense_Mutation_p.E148D	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	148	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction|transforming growth factor beta receptor complex	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														0.132743	23.042172	37.845399	15	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130588868	130588868	5310	9	C	A	A	A	259	20	ENG	2	2
ASS1	445	broad.mit.edu	37	9	133364724	133364724	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133364724C>G	uc010mza.2	+	c.1071C>G	c.(1069-1071)ATC>ATG	p.I357M	ASS1_uc004bzm.2_Missense_Mutation_p.I281M|ASS1_uc004bzn.2_Missense_Mutation_p.I281M|ASS1_uc004bzo.2_Missense_Mutation_p.I262M|ASS1_uc010mzb.2_Missense_Mutation_p.I319M|ASS1_uc004bzp.2_Missense_Mutation_p.I281M|ASS1_uc010mzc.2_Missense_Mutation_p.I281M	NM_054012	NP_446464	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	281					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)									0.325581	125.338061	128.80331	42	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133364724	133364724	1080	9	C	G	G	G	408	32	ASS1	3	3
LAMC3	10319	broad.mit.edu	37	9	133932444	133932444	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133932444G>T	uc004caa.1	+	c.2068G>T	c.(2068-2070)GGA>TGA	p.G690*		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	690	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)										0.300885	179.409835	187.416103	68	158	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133932444	133932444	8939	9	G	T	T	T	559	43	LAMC3	5	2
SEC16A	9919	broad.mit.edu	37	9	139371251	139371251	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139371251C>A	uc004chx.2	-	c.817G>T	c.(817-819)GCA>TCA	p.A273S	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.A273S|SEC16A_uc010nbn.2_Missense_Mutation_p.A273S|SEC16A_uc010nbo.1_Missense_Mutation_p.A273S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	95					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)										0.257143	22.859001	24.730094	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139371251	139371251	14472	9	C	A	A	A	364	28	SEC16A	2	2
IFNA7	3444	broad.mit.edu	37	9	21202067	21202067	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21202067C>A	uc003zop.1	-	c.98G>T	c.(97-99)CGT>CTT	p.R33L	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	33					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)										0.137931	45.190229	67.240807	24	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21202067	21202067	7843	9	C	A	A	A	247	19	IFNA7	1	1
TAF1L	138474	broad.mit.edu	37	9	32632739	32632739	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32632739G>A	uc003zrg.1	-	c.2839C>T	c.(2839-2841)CAC>TAC	p.H947Y		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	947					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.164179	58.136597	79.677717	33	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32632739	32632739	16044	9	G	A	A	A	585	45	TAF1L	2	2
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32633201G>T	uc003zrg.1	-	c.2377C>A	c.(2377-2379)CGG>AGG	p.R793R		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	793					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.129944	31.500046	55.096314	23	154	KEEP	---	---	---	---	capture		Silent	SNP	32633201	32633201	16044	9	G	T	T	T	480	37	TAF1L	1	1
ZCCHC7	84186	broad.mit.edu	37	9	37126597	37126597	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37126597G>T	uc003zzq.2	+	c.268G>T	c.(268-270)GAG>TAG	p.E90*	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Nonsense_Mutation_p.E89*|ZCCHC7_uc010mlt.2_Nonsense_Mutation_p.E89*|ZCCHC7_uc003zzs.1_Nonsense_Mutation_p.E89*	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	90							nucleic acid binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.0137)										0.116279	30.541605	67.971094	30	228	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37126597	37126597	18181	9	G	T	T	T	429	33	ZCCHC7	5	2
RLN2	6019	broad.mit.edu	37	9	5300244	5300244	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5300244T>A	uc003zja.1	-	c.412A>T	c.(412-414)AGT>TGT	p.S138C	RLN2_uc003ziz.1_3'UTR	NM_134441	NP_604390	P04090	REL2_HUMAN	relaxin 2 isoform 1 preproprotein	138					female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)										0.227778	92.259063	104.526004	41	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5300244	5300244	13869	9	T	A	A	A	728	56	RLN2	3	3
RORB	6096	broad.mit.edu	37	9	77257566	77257566	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77257566G>T	uc004aji.2	+	c.505G>T	c.(505-507)GTC>TTC	p.V169F	RORB_uc004ajh.2_Missense_Mutation_p.V158F	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	169	Hinge (Potential).				eye photoreceptor cell development|positive regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)	3														0.255814	60.610617	65.260969	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77257566	77257566	14008	9	G	T	T	T	520	40	RORB	1	1
SLC28A3	64078	broad.mit.edu	37	9	86905119	86905119	+	Missense_Mutation	SNP	C	A	A	rs11568388		TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86905119C>A	uc010mpz.2	-	c.1099G>T	c.(1099-1101)GGG>TGG	p.G367W	SLC28A3_uc011lsy.1_Missense_Mutation_p.G298W|SLC28A3_uc004anu.1_Missense_Mutation_p.G367W	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	367	Helical; (Potential).		G -> R (reduced transport of inosine and thymidine).		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.176471	34.073643	42.45705	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86905119	86905119	15030	9	C	A	A	A	299	23	SLC28A3	1	1
GUCY2F	2986	broad.mit.edu	37	X	108638599	108638599	+	Silent	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:108638599G>T	uc004eod.3	-	c.2395C>A	c.(2395-2397)CGA>AGA	p.R799R	GUCY2F_uc011msq.1_Non-coding_Transcript	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	799	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8										308				0.509506	458.070592	458.091843	134	129	KEEP	---	---	---	---	capture		Silent	SNP	108638599	108638599	7178	23	G	T	T	T	519	40	GUCY2F	1	1
GUCY2F	2986	broad.mit.edu	37	X	108652325	108652325	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:108652325C>A	uc004eod.3	-	c.1864G>T	c.(1864-1866)GTG>TTG	p.V622L	GUCY2F_uc011msq.1_Non-coding_Transcript	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	622	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8										308				0.46729	319.990377	320.188803	100	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108652325	108652325	7178	23	C	A	A	A	221	17	GUCY2F	2	2
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111698533C>A	uc004epo.1	+	c.577C>A	c.(577-579)CAG>AAG	p.Q193K		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding			ovary(1)	1														0.481283	280.03378	280.091169	90	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111698533	111698533	18172	23	C	A	A	A	273	21	ZCCHC16	2	2
ARHGAP6	395	broad.mit.edu	37	X	11196361	11196361	+	Silent	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11196361C>T	uc004cup.1	-	c.1488G>A	c.(1486-1488)GAG>GAA	p.E496E	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.E496E|ARHGAP6_uc004cum.1_Silent_p.E293E|ARHGAP6_uc004cun.1_Silent_p.E316E|ARHGAP6_uc010neb.1_Silent_p.E318E|ARHGAP6_uc011mif.1_Silent_p.E293E	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	496	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														0.384615	16.272031	16.423765	5	8	KEEP	---	---	---	---	capture		Silent	SNP	11196361	11196361	901	23	C	T	T	T	363	28	ARHGAP6	2	2
ODZ1	10178	broad.mit.edu	37	X	123870955	123870955	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123870955G>T	uc010nqy.2	-	c.628C>A	c.(628-630)CCC>ACC	p.P210T	ODZ1_uc011muj.1_Missense_Mutation_p.P210T|ODZ1_uc004euj.2_Missense_Mutation_p.P210T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	210	Teneurin N-terminal.|Cytoplasmic (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				0.457447	282.435821	282.731497	86	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123870955	123870955	11239	23	G	T	T	T	572	44	ODZ1	2	2
SAGE1	55511	broad.mit.edu	37	X	134992580	134992580	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134992580C>A	uc004ezh.2	+	c.1871C>A	c.(1870-1872)GCA>GAA	p.A624E	SAGE1_uc010nry.1_Missense_Mutation_p.A593E|SAGE1_uc011mvv.1_Missense_Mutation_p.A248E	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	624										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.482993	223.011089	223.048367	71	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134992580	134992580	14289	23	C	A	A	A	325	25	SAGE1	2	2
GPR112	139378	broad.mit.edu	37	X	135431732	135431732	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431732C>T	uc004ezu.1	+	c.5867C>T	c.(5866-5868)TCA>TTA	p.S1956L	GPR112_uc010nsb.1_Missense_Mutation_p.S1751L|GPR112_uc010nsc.1_Missense_Mutation_p.S1723L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1956	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				0.433735	206.457476	207.09589	72	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135431732	135431732	6903	23	C	T	T	T	377	29	GPR112	2	2
IL3RA	3563	broad.mit.edu	37	X	1460672	1460672	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1460672G>T	uc004cps.2	+	c.14G>T	c.(13-15)TGG>TTG	p.W5L	IL3RA_uc011mhd.1_Missense_Mutation_p.W5L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	5						integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)									0.217054	66.0253	75.552955	28	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1460672	1460672	7996	23	G	T	T	T	611	47	IL3RA	2	2
HAUS7	55559	broad.mit.edu	37	X	152721086	152721086	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152721086C>G	uc004fhn.1	-	c.874G>C	c.(874-876)GAG>CAG	p.E292Q	HAUS7_uc004fhl.2_Non-coding_Transcript|HAUS7_uc004fhm.2_Non-coding_Transcript|HAUS7_uc004fho.1_Missense_Mutation_p.E292Q|HAUS7_uc004fhp.1_Non-coding_Transcript	NM_207107	NP_996990	Q99871	HAUS7_HUMAN	RecName: Full=HAUS augmin-like complex subunit 7; AltName: Full=UCHL5-interacting protein; AltName: Full=26S proteasome-associated UCH37-interacting protein 1; AltName: Full=X-linked protein STS1769;	292					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0														0.533333	174.85576	174.949658	48	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152721086	152721086	7253	23	C	G	G	G	403	31	HAUS7	3	3
ACE2	59272	broad.mit.edu	37	X	15607507	15607507	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:15607507C>G	uc004cxa.1	-	c.656G>C	c.(655-657)CGC>CCC	p.R219P	ACE2_uc004cxb.2_Missense_Mutation_p.R219P	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	219	Extracellular (Potential).			R->D: No effect on interaction with SARS- CoV spike glycoprotein.	angiotensin catabolic process in blood|angiotensin-mediated drinking behavior|oxygen and reactive oxygen species metabolic process|proteolysis|receptor biosynthetic process|regulation of cell proliferation|regulation of cytokine production|regulation of inflammatory response|regulation of vasoconstriction|regulation of vasodilation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)									0.204348	130.694539	149.354463	47	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15607507	15607507	138	23	C	G	G	G	351	27	ACE2	3	3
ASMTL	8623	broad.mit.edu	37	X	1561078	1561078	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1561078C>A	uc004cpx.1	-	c.225_splice	c.e2+1	p.Q75_splice	ASMTL_uc011mhe.1_Splice_Site_SNP_p.R21_splice|ASMTL_uc004cpy.1_Splice_Site_SNP_p.Q75_splice|ASMTL_uc011mhf.1_Splice_Site_SNP_p.Q17_splice	NM_004192	NP_004183			acetylserotonin O-methyltransferase-like						melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.230392	111.622659	125.212621	47	157	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1561078	1561078	1065	23	C	A	A	A	338	26	ASMTL	5	2
ARSF	416	broad.mit.edu	37	X	2990067	2990067	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2990067G>T	uc004cre.1	+	c.12G>T	c.(10-12)AGG>AGT	p.R4S	ARSF_uc004crf.1_Missense_Mutation_p.R4S	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	4						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.33871	55.367407	56.787967	21	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2990067	2990067	1009	23	G	T	T	T	529	41	ARSF	2	2
OTUD6A	139562	broad.mit.edu	37	X	69282458	69282458	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69282458C>G	uc004dxu.1	+	c.84C>G	c.(82-84)AGC>AGG	p.S28R		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	28											0														0.5	44.289777	44.289777	14	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69282458	69282458	11729	23	C	G	G	G	363	28	OTUD6A	3	3
OR4P4	81300	broad.mit.edu	37	11	55406728	55406728	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55406728_55406728delG	uc010rij.1	+	c.895_895delG	c.(895-897)GTGfs	p.V299fs		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.40			47	71		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55406728	55406728	11490	11	G	-	-	-	468	36	OR4P4	5	5
PLA2G4E	123745	broad.mit.edu	37	15	42302337	42302338	+	In_Frame_Ins	INS	-	CCA	CCA	rs28736629	by1000genomes	TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42302337_42302338insCCA	uc001zow.1	-	c.108_109insTGG	c.(106-111)insTGG	p.36_37insW		NM_001080490	NP_001073959	C9JK77	C9JK77_HUMAN	phospholipase A2, group 4E	36_37					phospholipid catabolic process						0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)										0.47			17	19		---	---	---	---	capture_indel		In_Frame_Ins	INS	42302337	42302338	12431	15	-	CCA	CCA	CCA	273	21	PLA2G4E	5	5
MEFV	4210	broad.mit.edu	37	16	3293233	3293233	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3293233_3293233delG	uc002cun.1	-	c.2254_2254delC	c.(2254-2256)CTTfs	p.L752fs		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	752	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.53			94	85		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3293233	3293233	9848	16	G	-	-	-	455	35	MEFV	5	5
KIRREL2	84063	broad.mit.edu	37	19	36349458	36349458	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36349458_36349458delG	uc002ocb.3	+	c.360_360delG	c.(358-360)CTGfs	p.L120fs	KIRREL2_uc002obz.3_Frame_Shift_Del_p.L120fs|KIRREL2_uc002oca.3_Frame_Shift_Del_p.L70fs|KIRREL2_uc002occ.3_Frame_Shift_Del_p.L67fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.L117fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	120	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	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)											0.33			42	84		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	36349458	36349458	8637	19	G	-	-	-	600	47	KIRREL2	5	5
ATP1A2	477	broad.mit.edu	37	1	160085661	160085662	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160085661_160085662delGG	uc001fvc.2	+	c.10_11delGG	c.(10-12)GGGfs	p.G4fs	ATP1A2_uc001fvb.2_Frame_Shift_Del_p.G4fs	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	4					ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.32			8	17		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	160085661	160085662	1148	1	GG	-	-	-	611	47	ATP1A2	5	5
HMCN1	83872	broad.mit.edu	37	1	185956655	185956656	+	Frame_Shift_Ins	INS	-	C	C			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185956655_185956656insC	uc001grq.1	+	c.3027_3028insC	c.(3025-3030)AAACCGfs	p.K1009fs	HMCN1_uc001grr.1_Frame_Shift_Ins_p.K350fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1009_1010	Ig-like C2-type 7.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.38			106	173		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	185956655	185956656	7511	1	-	C	C	C	24	2	HMCN1	5	5
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-44-2659-01	TCGA-44-2659-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248801602_248801603insCA	uc001ies.1	-	c.957_958insTG	c.(955-960)GTGATCfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T,	319_320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.33			4	8		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	248801602	248801603	11432	1	-	CA	CA	CA	650	50	OR2T35	5	5
