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
BLOC1S2	282991	broad.mit.edu	37	10	102035226	102035226	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102035226T>A	uc001kqw.1	-	c.422A>T	c.(421-423)AAG>ATG	p.K141M	BLOC1S2_uc001kqv.1_Missense_Mutation_p.K98M	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	141					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)										0.248619	107.4813	117.889151	45	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102035226	102035226	1474	10	T	A	A	A	728	56	BLOC1S2	3	3
CDC123	8872	broad.mit.edu	37	10	12272994	12272994	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12272994A>G	uc001ilm.2	+	c.488A>G	c.(487-489)GAG>GGG	p.E163G	CDC123_uc001ill.2_Missense_Mutation_p.E163G	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	163					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1														0.233333	42.019593	45.924124	14	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12272994	12272994	3183	10	A	G	G	G	143	11	CDC123	4	4
PRAP1	118471	broad.mit.edu	37	10	135163597	135163597	+	Splice_Site_SNP	SNP	A	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135163597A>C	uc001lmp.2	+	c.9_splice	c.e2-2	p.R3_splice	PRAP1_uc001lmr.2_Splice_Site_SNP_p.R3_splice|PRAP1_uc001lmq.1_5'Flank	NM_145202	NP_660203			proline-rich acidic protein 1 isoform 1							extracellular region					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)										0.111111	4.30876	8.342196	3	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	135163597	135163597	12883	10	A	C	C	C	91	7	PRAP1	5	4
ITGA8	8516	broad.mit.edu	37	10	15655663	15655663	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15655663C>A	uc001ioc.1	-	c.1549G>T	c.(1549-1551)GCC>TCC	p.A517S	ITGA8_uc010qcb.1_Missense_Mutation_p.A502S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	517	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.110638	25.217124	60.426736	26	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15655663	15655663	8186	10	C	A	A	A	325	25	ITGA8	2	2
SLC39A12	221074	broad.mit.edu	37	10	18276417	18276417	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18276417A>G	uc001ipo.2	+	c.1106A>G	c.(1105-1107)TAC>TGC	p.Y369C	SLC39A12_uc001ipn.2_Missense_Mutation_p.Y369C|SLC39A12_uc001ipp.2_Missense_Mutation_p.Y369C|SLC39A12_uc010qck.1_Missense_Mutation_p.Y235C	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	369	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.156863	17.969344	23.698082	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18276417	18276417	15112	10	A	G	G	G	182	14	SLC39A12	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37422904	37422904	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37422904G>T	uc001iza.1	+	c.510G>T	c.(508-510)CAG>CAT	p.Q170H		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	226	ANK 5.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.258621	184.773178	200.093206	75	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37422904	37422904	663	10	G	T	T	T	438	34	ANKRD30A	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37430832	37430832	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37430832C>G	uc001iza.1	+	c.839C>G	c.(838-840)TCT>TGT	p.S280C		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	336					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.204545	46.087476	53.232215	18	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37430832	37430832	663	10	C	G	G	G	416	32	ANKRD30A	3	3
ANKRD30A	91074	broad.mit.edu	37	10	37508196	37508196	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37508196C>G	uc001iza.1	+	c.3388C>G	c.(3388-3390)CAA>GAA	p.Q1130E		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1186	Potential.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.0625	-4.133316	15.018783	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37508196	37508196	663	10	C	G	G	G	221	17	ANKRD30A	3	3
ANK3	288	broad.mit.edu	37	10	61833291	61833291	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61833291C>T	uc001jky.2	-	c.7348G>A	c.(7348-7350)GAC>AAC	p.D2450N	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2450					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.123288	20.443751	40.721116	18	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61833291	61833291	625	10	C	T	T	T	377	29	ANK3	2	2
C10orf107	219621	broad.mit.edu	37	10	63450314	63450314	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63450314C>G	uc010qik.1	+	c.223C>G	c.(223-225)CAA>GAA	p.Q75E		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	hypothetical protein LOC219621	75											0	Prostate(12;0.016)													0.060241	-3.494214	13.282218	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63450314	63450314	1616	10	C	G	G	G	377	29	C10orf107	3	3
CDH23	64072	broad.mit.edu	37	10	73434908	73434908	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73434908T>C	uc001jrx.3	+	c.1489T>C	c.(1489-1491)TAC>CAC	p.Y497H	CDH23_uc001jry.2_Missense_Mutation_p.Y113H|CDH23_uc001jrz.2_Missense_Mutation_p.Y113H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.133333	13.420865	19.289616	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73434908	73434908	3237	10	T	C	C	C	689	53	CDH23	4	4
DLG5	9231	broad.mit.edu	37	10	79581303	79581303	+	Missense_Mutation	SNP	T	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79581303T>G	uc001jzk.2	-	c.2939A>C	c.(2938-2940)AAA>ACA	p.K980T	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.3_Missense_Mutation_p.K584T	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	980					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)											0.261745	120.871503	128.514536	39	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79581303	79581303	4738	10	T	G	G	G	832	64	DLG5	4	4
ANXA11	311	broad.mit.edu	37	10	81930651	81930651	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:81930651C>A	uc010qlx.1	-	c.376G>T	c.(376-378)GCT>TCT	p.A126S	ANXA11_uc001kbq.1_Missense_Mutation_p.A26S|ANXA11_uc001kbr.1_Missense_Mutation_p.A26S|ANXA11_uc001kbs.1_Missense_Mutation_p.A26S|ANXA11_uc001kbt.1_Missense_Mutation_p.A26S|ANXA11_uc010qly.1_5'UTR|ANXA11_uc009xsq.1_Missense_Mutation_p.A26S|ANXA11_uc001kbu.1_Missense_Mutation_p.A26S	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	26					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)											0.25	35.967	39.606323	16	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81930651	81930651	724	10	C	A	A	A	325	25	ANXA11	2	2
C10orf12	26148	broad.mit.edu	37	10	98741603	98741603	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98741603G>A	uc001kmv.2	+	c.456G>A	c.(454-456)AGG>AGA	p.R152R	C10orf12_uc009xvg.1_Silent_p.R462R	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	152											0		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)										0.083333	0.054817	14.88272	7	77	KEEP	---	---	---	---	capture		Silent	SNP	98741603	98741603	1624	10	G	A	A	A	529	41	C10orf12	2	2
ARHGAP19	84986	broad.mit.edu	37	10	99024633	99024633	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99024633G>A	uc001knb.2	-	c.353C>T	c.(352-354)ACG>ATG	p.T118M	ARHGAP19_uc001kmy.2_Non-coding_Transcript|ARHGAP19_uc001kna.2_Missense_Mutation_p.T109M|ARHGAP19_uc009xvi.2_Non-coding_Transcript|ARHGAP19_uc009xvj.2_Missense_Mutation_p.T118M|ARHGAP19_uc009xvk.2_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	118	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)										0.066667	-5.957126	14.479422	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99024633	99024633	880	10	G	A	A	A	520	40	ARHGAP19	1	1
CUL5	8065	broad.mit.edu	37	11	107904543	107904543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107904543C>T	uc001pjv.2	+	c.40C>T	c.(40-42)CAG>TAG	p.Q14*	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	14					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)										0.112903	7.576468	16.750091	7	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107904543	107904543	4219	11	C	T	T	T	377	29	CUL5	5	2
ATM	472	broad.mit.edu	37	11	108206578	108206578	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108206578G>C	uc001pkb.1	+	c.8158G>C	c.(8158-8160)GAT>CAT	p.D2720H	ATM_uc009yxr.1_Missense_Mutation_p.D2720H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1372H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2720	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)						1073	TSP Lung(14;0.12)			0.098039	5.133283	13.382634	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108206578	108206578	1128	11	G	C	C	C	585	45	ATM	3	3
MUC5B	727897	broad.mit.edu	37	11	1155683	1155683	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1155683G>T	uc009ycr.1	+	c.371G>T	c.(370-372)CGC>CTC	p.R124L		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	120	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.15	4.011397	6.362714	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1155683	1155683	10373	11	G	T	T	T	482	38	MUC5B	1	1
ADAMTS15	170689	broad.mit.edu	37	11	130332082	130332082	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130332082C>T	uc010scd.1	+	c.1191C>T	c.(1189-1191)ATC>ATT	p.I397I		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	397	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|lung(1)|pancreas(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)										0.161616	26.643368	37.423336	16	83	KEEP	---	---	---	---	capture		Silent	SNP	130332082	130332082	261	11	C	T	T	T	395	31	ADAMTS15	1	1
NTM	50863	broad.mit.edu	37	11	131240725	131240725	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:131240725G>A	uc010sci.1	+	c.24G>A	c.(22-24)ATG>ATA	p.M8I	NTM_uc001qgm.2_Missense_Mutation_p.M8I|NTM_uc010sch.1_5'UTR	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	Error:Variant_position_missing_in_Q9P121_after_alignment					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.226891	54.253123	62.412202	27	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131240725	131240725	11104	11	G	A	A	A	598	46	NTM	2	2
NAV2	89797	broad.mit.edu	37	11	20066788	20066788	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20066788C>A	uc001mpr.3	+	c.3474C>A	c.(3472-3474)CTC>CTA	p.L1158L	NAV2_uc001mpp.2_Silent_p.L1094L|NAV2_uc010rdm.1_Silent_p.L1181L|NAV2_uc001mpt.2_Silent_p.L244L|NAV2_uc009yhx.2_Silent_p.L244L|NAV2_uc009yhy.1_Silent_p.L157L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1181						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.322581	85.218433	87.817244	30	63	KEEP	---	---	---	---	capture		Silent	SNP	20066788	20066788	10580	11	C	A	A	A	392	31	NAV2	1	1
LRRC4C	57689	broad.mit.edu	37	11	40136618	40136618	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40136618C>A	uc001mxa.1	-	c.1225G>T	c.(1225-1227)GGT>TGT	p.G409C	LRRC4C_uc001mxc.1_Missense_Mutation_p.G405C|LRRC4C_uc001mxd.1_Missense_Mutation_p.G405C|LRRC4C_uc001mxb.1_Missense_Mutation_p.G405C	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	409	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.288538	187.673086	197.816166	73	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40136618	40136618	9383	11	C	A	A	A	273	21	LRRC4C	2	2
OR5W2	390148	broad.mit.edu	37	11	55681268	55681268	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55681268G>A	uc010rir.1	-	c.791C>T	c.(790-792)TCT>TTT	p.S264F		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.243902	52.862414	57.760953	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55681268	55681268	11595	11	G	A	A	A	429	33	OR5W2	2	2
OR8H2	390151	broad.mit.edu	37	11	55872945	55872945	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55872945G>C	uc010riy.1	+	c.427G>C	c.(427-429)GCT>CCT	p.A143P		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.091205	23.016085	74.680862	28	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55872945	55872945	11649	11	G	C	C	C	494	38	OR8H2	3	3
OR8K5	219453	broad.mit.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55927085C>T	uc010rja.1	-	c.709G>A	c.(709-711)GCT>ACT	p.A237T		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.111111	4.051922	13.553552	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55927085	55927085	11656	11	C	T	T	T	338	26	OR8K5	2	2
SHANK2	22941	broad.mit.edu	37	11	70319292	70319293	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70319292_70319293TG>AA	uc001oqc.2	-	c.5231_5232CA>TT	c.(5230-5232)CCA>CTT	p.P1744L	SHANK2_uc010rqn.1_Missense_Mutation_p.P1156L|SHANK2_uc001opz.2_Missense_Mutation_p.P1149L|SHANK2_uc001opy.2_Missense_Mutation_p.P80L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1365					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.091503	1.627026	27.392157	14	139	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70319292	70319293	14757	11	TG	AA	AA	AA	808	63	SHANK2	3	3
NLRP10	338322	broad.mit.edu	37	11	7981504	7981504	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7981504A>T	uc001mfv.1	-	c.1655T>A	c.(1654-1656)ATG>AAG	p.M552K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	552							ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.253165	54.467163	58.833634	20	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7981504	7981504	10875	11	A	T	T	T	104	8	NLRP10	3	3
CHID1	66005	broad.mit.edu	37	11	903105	903105	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:903105A>T	uc010qwv.1	-	c.301T>A	c.(301-303)TTT>ATT	p.F101I	CHID1_uc010qwu.1_Missense_Mutation_p.F70I|CHID1_uc001lsl.2_Missense_Mutation_p.F40I|CHID1_uc001lsn.2_Missense_Mutation_p.F65I|CHID1_uc001lsm.2_Missense_Mutation_p.F40I|CHID1_uc001lso.2_Missense_Mutation_p.F40I|CHID1_uc001lsp.2_Missense_Mutation_p.F40I|CHID1_uc010qww.1_Missense_Mutation_p.F40I	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	40					chitin catabolic process	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		Pancreas(117;992 2327 5172 41921)								0.309524	34.059059	35.417044	13	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	903105	903105	3479	11	A	T	T	T	26	2	CHID1	3	3
HEPHL1	341208	broad.mit.edu	37	11	93844222	93844222	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93844222C>T	uc001pep.2	+	c.3199C>T	c.(3199-3201)CGT>TGT	p.R1067C		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1067	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.166667	5.613561	7.510008	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93844222	93844222	7338	11	C	T	T	T	403	31	HEPHL1	1	1
CCDC82	79780	broad.mit.edu	37	11	96117783	96117783	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:96117783C>A	uc009ywp.2	-	c.129G>T	c.(127-129)GAG>GAT	p.E43D	CCDC82_uc009ywq.2_Missense_Mutation_p.E43D|CCDC82_uc001pfx.3_Missense_Mutation_p.E43D|CCDC82_uc009ywr.2_Missense_Mutation_p.E43D|CCDC82_uc009yws.2_Missense_Mutation_p.E43D	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	43							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)										0.166667	16.337367	22.029763	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96117783	96117783	2980	11	C	A	A	A	363	28	CCDC82	2	2
KLRD1	3824	broad.mit.edu	37	12	10462245	10462245	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10462245G>A	uc001qxz.3	+	c.121G>A	c.(121-123)GAG>AAG	p.E41K	KLRD1_uc001qxw.3_Missense_Mutation_p.E41K|KLRD1_uc001qxx.3_Missense_Mutation_p.E41K|KLRD1_uc001qxy.3_Missense_Mutation_p.E10K|KLRD1_uc009zhh.2_Intron|KLRD1_uc009zhi.2_Missense_Mutation_p.E41K	NM_002262	NP_031360	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	41	Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0														0.33871	55.250605	56.679334	21	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10462245	10462245	8733	12	G	A	A	A	585	45	KLRD1	2	2
SLC41A2	84102	broad.mit.edu	37	12	105199029	105199029	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105199029G>A	uc001tla.2	-	c.1623C>T	c.(1621-1623)TAC>TAT	p.Y541Y		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	541	Extracellular.					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)	1						Esophageal Squamous(195;176 2919 4272 35572)								0.462366	508.485098	508.940201	172	200	KEEP	---	---	---	---	capture		Silent	SNP	105199029	105199029	15127	12	G	A	A	A	568	44	SLC41A2	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686093	108686093	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686093C>A	uc009zuw.2	-	c.647G>T	c.(646-648)CGG>CTG	p.R216L	CMKLR1_uc001tmw.2_Missense_Mutation_p.R216L|CMKLR1_uc001tmv.2_Missense_Mutation_p.R214L|CMKLR1_uc009zuv.2_Missense_Mutation_p.R216L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	216	Extracellular (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.528571	114.263051	114.311922	37	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686093	108686093	3717	12	C	A	A	A	299	23	CMKLR1	1	1
ISCU	23479	broad.mit.edu	37	12	108958090	108958090	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108958090G>T	uc010sxc.1	+	c.150G>T	c.(148-150)GGG>GGT	p.G50G	SART3_uc001tmz.1_5'Flank|SART3_uc009zux.1_5'Flank|SART3_uc010swx.1_5'Flank|SART3_uc010swz.1_5'Flank|SART3_uc001tna.1_5'Flank|SART3_uc001tnb.2_5'Flank|ISCU_uc010sxa.1_Silent_p.G50G|ISCU_uc010sxb.1_Silent_p.G50G|ISCU_uc001tnc.3_Silent_p.G25G|ISCU_uc009zuy.2_Silent_p.G25G|ISCU_uc010sxd.1_Silent_p.G50G	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme isoform	50					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0														0.421569	126.404169	126.952076	43	59	KEEP	---	---	---	---	capture		Silent	SNP	108958090	108958090	8156	12	G	T	T	T	561	44	ISCU	2	2
CUX2	23316	broad.mit.edu	37	12	111772465	111772465	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111772465G>A	uc001tsa.1	+	c.3147G>A	c.(3145-3147)ACG>ACA	p.T1049T		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1049	CUT 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.223684	37.1529	42.476404	17	59	KEEP	---	---	---	---	capture		Silent	SNP	111772465	111772465	4225	12	G	A	A	A	509	40	CUX2	1	1
SYT10	341359	broad.mit.edu	37	12	33592339	33592339	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33592339C>T	uc001rll.1	-	c.119G>A	c.(118-120)CGG>CAG	p.R40Q	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	40	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.052356	-19.189865	21.248106	10	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33592339	33592339	15987	12	C	T	T	T	299	23	SYT10	1	1
PRMT8	56341	broad.mit.edu	37	12	3649868	3649868	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3649868C>T	uc001qmf.2	+	c.172C>T	c.(172-174)CGG>TGG	p.R58W	PRMT8_uc009zed.2_Missense_Mutation_p.R49W|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	58	SH3-binding 2.				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)											0.358392	537.169355	547.287776	205	367	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3649868	3649868	12985	12	C	T	T	T	243	19	PRMT8	1	1
KRT6B	3854	broad.mit.edu	37	12	52842654	52842654	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52842654C>A	uc001sak.2	-	c.1175G>T	c.(1174-1176)AGA>ATA	p.R392I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	392	Rod.|Coil 2.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.184783	58.231888	75.397858	34	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52842654	52842654	8796	12	C	A	A	A	416	32	KRT6B	2	2
KRT2	3849	broad.mit.edu	37	12	53045393	53045393	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53045393C>G	uc001sat.2	-	c.534G>C	c.(532-534)GAG>GAC	p.E178D		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	178	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)										0.16041	108.904446	141.118928	47	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53045393	53045393	8772	12	C	G	G	G	363	28	KRT2	3	3
ITGA7	3679	broad.mit.edu	37	12	56096921	56096921	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56096921T>A	uc001shh.2	-	c.248A>T	c.(247-249)CAG>CTG	p.Q83L	ITGA7_uc001shg.2_Missense_Mutation_p.Q83L|ITGA7_uc010sps.1_Intron|ITGA7_uc009znx.2_5'Flank	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	83	FG-GAP 1.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4										261				0.526718	217.987658	218.070455	69	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56096921	56096921	8185	12	T	A	A	A	715	55	ITGA7	3	3
BAZ2A	11176	broad.mit.edu	37	12	56992465	56992465	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56992465G>A	uc001slq.1	-	c.5655C>T	c.(5653-5655)ATC>ATT	p.I1885I	BAZ2A_uc001slp.1_Silent_p.I1883I|BAZ2A_uc001slo.1_Silent_p.I691I|BAZ2A_uc009zov.1_Silent_p.I851I|BAZ2A_uc009zow.1_Silent_p.I1853I	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1885					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.134615	5.431993	12.302412	7	45	KEEP	---	---	---	---	capture		Silent	SNP	56992465	56992465	1352	12	G	A	A	A	577	45	BAZ2A	2	2
ACSS3	79611	broad.mit.edu	37	12	81593168	81593168	+	Silent	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81593168G>C	uc001szl.1	+	c.1299G>C	c.(1297-1299)CTG>CTC	p.L433L	ACSS3_uc001szm.1_Silent_p.L432L|ACSS3_uc001szn.1_Silent_p.L115L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	433						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.176471	19.045691	24.075414	9	42	KEEP	---	---	---	---	capture		Silent	SNP	81593168	81593168	191	12	G	C	C	C	600	47	ACSS3	3	3
KERA	11081	broad.mit.edu	37	12	91449755	91449755	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91449755G>C	uc001tbl.2	-	c.304C>G	c.(304-306)CTA>GTA	p.L102V		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	102	LRR 2.				response to stimulus|visual perception	proteinaceous extracellular matrix					0														0.262136	85.877606	91.149547	27	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91449755	91449755	8449	12	G	C	C	C	425	33	KERA	3	3
ANKS1B	56899	broad.mit.edu	37	12	99640276	99640276	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99640276C>G	uc001tge.1	-	c.2123G>C	c.(2122-2124)GGA>GCA	p.G708A	ANKS1B_uc001tgf.1_Missense_Mutation_p.G288A|ANKS1B_uc001tgk.2_Missense_Mutation_p.G5A|ANKS1B_uc009ztt.1_Missense_Mutation_p.G674A	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	708						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.275	67.514713	71.162254	22	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99640276	99640276	697	12	C	G	G	G	390	30	ANKS1B	3	3
LRCH1	23143	broad.mit.edu	37	13	47279229	47279229	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:47279229G>T	uc001vbk.2	+	c.1427G>T	c.(1426-1428)AGT>ATT	p.S476I	LRCH1_uc010acp.2_Missense_Mutation_p.S476I|LRCH1_uc001vbj.2_Missense_Mutation_p.S476I|LRCH1_uc001vbl.3_Missense_Mutation_p.S476I	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	476										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)										0.227273	34.293177	38.797323	15	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47279229	47279229	9305	13	G	T	T	T	468	36	LRCH1	2	2
THSD1	55901	broad.mit.edu	37	13	52952787	52952787	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52952787C>T	uc001vgo.2	-	c.1318G>A	c.(1318-1320)GGC>AGC	p.G440S	THSD1_uc001vgp.2_Missense_Mutation_p.G387S|THSD1_uc010tgz.1_Missense_Mutation_p.G61S|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	440	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.166667	15.669514	20.726715	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52952787	52952787	16405	13	C	T	T	T	299	23	THSD1	1	1
DIO3	1735	broad.mit.edu	37	14	102028628	102028628	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102028628G>T	uc010txq.1	+	c.717G>T	c.(715-717)CAG>CAT	p.Q239H	DIO3OS_uc001ykd.1_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	239	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|oxidation-reduction process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)	2		all_neural(303;0.185)												0.113924	4.573224	16.33307	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102028628	102028628	4705	14	G	T	T	T	425	33	DIO3	2	2
LTB4R	1241	broad.mit.edu	37	14	24785095	24785095	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24785095C>G	uc001wos.2	+	c.238C>G	c.(238-240)CAA>GAA	p.Q80E	LTB4R_uc010alp.2_Missense_Mutation_p.Q80E|LTB4R_uc001wou.2_Missense_Mutation_p.Q80E	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	80	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding				0				GBM - Glioblastoma multiforme(265;0.018)										0.226994	99.287676	110.441867	37	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24785095	24785095	9447	14	C	G	G	G	273	21	LTB4R	3	3
SIPA1L1	26037	broad.mit.edu	37	14	72176135	72176135	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72176135C>T	uc001xms.2	+	c.4025C>T	c.(4024-4026)TCG>TTG	p.S1342L	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1321L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1321L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1342L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S796L|SIPA1L1_uc001xmw.2_Missense_Mutation_p.S107L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1342	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.25	6.418381	7.10107	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72176135	72176135	14824	14	C	T	T	T	403	31	SIPA1L1	1	1
TMED10	10972	broad.mit.edu	37	14	75643092	75643092	+	Missense_Mutation	SNP	G	A	A	rs4929		TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75643092G>A	uc001xrm.1	-	c.191C>T	c.(190-192)TCT>TTT	p.S64F	TMED10_uc010ash.1_Non-coding_Transcript	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	64	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)										0.208333	44.6494	52.218644	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75643092	75643092	16533	14	G	A	A	A	429	33	TMED10	2	2
KIAA1409	57578	broad.mit.edu	37	14	94121688	94121688	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94121688T>A	uc001ybv.1	+	c.6043T>A	c.(6043-6045)TGG>AGG	p.W2015R	KIAA1409_uc001ybs.1_Missense_Mutation_p.W1993R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2170						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.203704	89.854495	107.492753	44	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94121688	94121688	8539	14	T	A	A	A	715	55	KIAA1409	3	3
WDR72	256764	broad.mit.edu	37	15	53889352	53889352	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:53889352C>T	uc002acj.2	-	c.3072G>A	c.(3070-3072)ATG>ATA	p.M1024I		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1024										lung(1)	1				all cancers(107;0.0511)										0.128289	41.086982	82.303002	39	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53889352	53889352	17895	15	C	T	T	T	377	29	WDR72	2	2
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75631620T>C	uc002azy.2	+	c.317T>C	c.(316-318)CTG>CCG	p.L106P	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Missense_Mutation_p.C89R|COMMD4_uc002baa.2_Missense_Mutation_p.L106P|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_Non-coding_Transcript	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm	protein binding				0														0.086957	1.867681	9.809736	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75631620	75631620	3856	15	T	C	C	C	715	55	COMMD4	4	4
NDE1	54820	broad.mit.edu	37	16	15771720	15771720	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15771720C>T	uc002ddt.1	+	c.300C>T	c.(298-300)CTC>CTT	p.L100L	NDE1_uc010uzy.1_Silent_p.L100L|NDE1_uc002dds.2_Silent_p.L100L	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	100	Interaction with PAFAH1B1 (By similarity).|Potential.				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1										8				0.25	57.651804	63.1078	24	72	KEEP	---	---	---	---	capture		Silent	SNP	15771720	15771720	10642	16	C	T	T	T	392	31	NDE1	1	1
NUBP2	10101	broad.mit.edu	37	16	1838029	1838029	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1838029G>T	uc002cmw.3	+	c.577G>T	c.(577-579)GGC>TGC	p.G193C	NUBP2_uc002cmx.3_Missense_Mutation_p.G52C|NUBP2_uc010brx.2_Missense_Mutation_p.G133C	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	193						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0														0.223301	49.114213	56.336723	23	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1838029	1838029	11121	16	G	T	T	T	507	39	NUBP2	1	1
TBL3	10607	broad.mit.edu	37	16	2025660	2025660	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2025660C>T	uc002cnu.1	+	c.936C>T	c.(934-936)GCC>GCT	p.A312A	TBL3_uc002cnv.1_Silent_p.A198A|TBL3_uc010bsb.1_Silent_p.A101A|TBL3_uc010bsc.1_Silent_p.A198A|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	312	WD 6.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.125	4.938407	10.456672	5	35	KEEP	---	---	---	---	capture		Silent	SNP	2025660	2025660	16169	16	C	T	T	T	288	23	TBL3	1	1
GP2	2813	broad.mit.edu	37	16	20331722	20331722	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20331722C>T	uc002dgv.2	-	c.729G>A	c.(727-729)CTG>CTA	p.L243L	GP2_uc002dgw.2_Silent_p.L240L|GP2_uc002dgx.2_Silent_p.L96L|GP2_uc002dgy.2_Silent_p.L93L	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	243	ZP.			L -> Q (in Ref. 5; BAA07400).		anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.266667	56.651722	61.083592	24	66	KEEP	---	---	---	---	capture		Silent	SNP	20331722	20331722	6856	16	C	T	T	T	262	21	GP2	2	2
FUS	2521	broad.mit.edu	37	16	31202719	31202719	+	Splice_Site_SNP	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31202719G>T	uc002ebi.2	+	c.1545_splice	c.e15-1	p.R515_splice	FUS_uc002ebf.2_Splice_Site_SNP_p.R514_splice|FUS_uc002ebh.2_Splice_Site_SNP_p.R513_splice|FUS_uc002ebg.2_Splice_Site_SNP_p.R309_splice|FUS_uc002ebj.2_Splice_Site_SNP_p.R310_splice	NM_004960	NP_004951			fusion (involved in t(12;16) in malignant						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)						180				0.207921	40.590711	48.60861	21	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31202719	31202719	6351	16	G	T	T	T	455	35	FUS	5	2
ZNF263	10127	broad.mit.edu	37	16	3340426	3340426	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3340426C>G	uc002cuq.2	+	c.1920C>G	c.(1918-1920)TTC>TTG	p.F640L	ZNF263_uc010uww.1_Missense_Mutation_p.F288L|ZNF263_uc002cur.2_Missense_Mutation_p.F288L	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	640	C2H2-type 8.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.107143	24.215446	45.656184	15	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3340426	3340426	18395	16	C	G	G	G	415	32	ZNF263	3	3
NKD1	85407	broad.mit.edu	37	16	50664759	50664759	+	Silent	SNP	A	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50664759A>C	uc002egg.1	+	c.633A>C	c.(631-633)CGA>CGC	p.R211R		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	211					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)										0.16	8.784499	11.535753	4	21	KEEP	---	---	---	---	capture		Silent	SNP	50664759	50664759	10842	16	A	C	C	C	132	11	NKD1	4	4
ST3GAL2	6483	broad.mit.edu	37	16	70432107	70432107	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70432107C>G	uc002eyw.2	-	c.327G>C	c.(325-327)CAG>CAC	p.Q109H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.Q109H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	109	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)												0.090909	6.097457	17.232136	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70432107	70432107	15733	16	C	G	G	G	415	32	ST3GAL2	3	3
PKD1L2	114780	broad.mit.edu	37	16	81181822	81181823	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81181822_81181823CC>AA	uc002fgh.1	-	c.4893_4894GG>TT	c.(4891-4896)TGGGAC>TGTTAC	p.1631_1632WD>CY	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1631_1632	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.145833	7.270862	13.109209	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	81181822	81181823	12389	16	CC	AA	AA	AA	390	30	PKD1L2	2	2
DNAH9	1770	broad.mit.edu	37	17	11757475	11757475	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11757475C>T	uc002gne.2	+	c.9663C>T	c.(9661-9663)TTC>TTT	p.F3221F	DNAH9_uc010coo.2_Silent_p.F2515F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3221	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.263158	60.850246	65.658517	25	70	KEEP	---	---	---	---	capture		Silent	SNP	11757475	11757475	4791	17	C	T	T	T	389	30	DNAH9	2	2
RILP	83547	broad.mit.edu	37	17	1549747	1549747	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1549747G>A	uc002ftd.2	-	c.1195C>T	c.(1195-1197)CCA>TCA	p.P399S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	399					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)										0.333333	105.212687	108.016829	38	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1549747	1549747	13835	17	G	A	A	A	559	43	RILP	2	2
PEX12	5193	broad.mit.edu	37	17	33904426	33904426	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33904426G>C	uc002hjp.2	-	c.311C>G	c.(310-312)GCT>GGT	p.A104G		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	104	Cytoplasmic (Potential).				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.048969	-35.724877	48.136422	19	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33904426	33904426	12162	17	G	C	C	C	442	34	PEX12	3	3
CDK5RAP3	80279	broad.mit.edu	37	17	46054189	46054189	+	Splice_Site_SNP	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46054189G>A	uc010wlc.1	+	c.969_splice	c.e9+1	p.K323_splice	CDK5RAP3_uc002imq.1_Splice_Site_SNP_p.K78_splice|CDK5RAP3_uc002imr.2_Splice_Site_SNP_p.K303_splice|CDK5RAP3_uc002imu.2_Splice_Site_SNP_p.K147_splice|CDK5RAP3_uc002ims.2_Splice_Site_SNP_p.K216_splice|CDK5RAP3_uc002imv.2_Splice_Site_SNP_p.K147_splice|CDK5RAP3_uc002imw.2_Splice_Site_SNP_p.K147_splice|CDK5RAP3_uc002imx.2_Splice_Site_SNP_p.K78_splice	NM_176096	NP_788276			CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0														0.059701	-5.908806	7.637975	4	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	46054189	46054189	3276	17	G	A	A	A	572	44	CDK5RAP3	5	2
B4GALNT2	124872	broad.mit.edu	37	17	47247054	47247054	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47247054C>T	uc002ion.2	+	c.1665C>T	c.(1663-1665)CTC>CTT	p.L555L	B4GALNT2_uc010wlt.1_Silent_p.L469L|B4GALNT2_uc010wlu.1_Silent_p.L495L	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	555	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GBM(124;244 1635 8663 18097 33175)								0.27451	35.828588	38.163979	14	37	KEEP	---	---	---	---	capture		Silent	SNP	47247054	47247054	1288	17	C	T	T	T	379	30	B4GALNT2	2	2
MYCBPAP	84073	broad.mit.edu	37	17	48603496	48603496	+	Silent	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48603496T>C	uc010wmr.1	+	c.2166T>C	c.(2164-2166)AGT>AGC	p.S722S	MYCBPAP_uc002iqz.2_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	685					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|ovary(1)|pancreas(1)	4	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)											0.225806	117.582302	130.405828	42	144	KEEP	---	---	---	---	capture		Silent	SNP	48603496	48603496	10414	17	T	C	C	C	751	58	MYCBPAP	4	4
DGKE	8526	broad.mit.edu	37	17	54926178	54926178	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54926178G>A	uc002iur.2	+	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	DGKE_uc002ius.1_Missense_Mutation_p.R337Q	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)													0.044118	-28.708039	16.703455	9	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54926178	54926178	4647	17	G	A	A	A	481	37	DGKE	1	1
SCN4A	6329	broad.mit.edu	37	17	62029071	62029071	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62029071G>T	uc002jds.1	-	c.2566C>A	c.(2566-2568)CTC>ATC	p.L856I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	856					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.285714	9.191976	9.770435	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62029071	62029071	14402	17	G	T	T	T	442	34	SCN4A	2	2
SDK2	54549	broad.mit.edu	37	17	71375670	71375670	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71375670C>T	uc010dfm.2	-	c.4781G>A	c.(4780-4782)CGG>CAG	p.R1594Q	SDK2_uc002jjt.3_Missense_Mutation_p.R734Q|SDK2_uc010dfn.2_Missense_Mutation_p.R1273Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1594	Extracellular (Potential).|Fibronectin type-III 10.				cell adhesion	integral to membrane				ovary(2)	2														0.3	39.709552	41.494223	15	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71375670	71375670	14455	17	C	T	T	T	299	23	SDK2	1	1
SDK2	54549	broad.mit.edu	37	17	71429966	71429966	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71429966C>T	uc010dfm.2	-	c.1217G>A	c.(1216-1218)AGA>AAA	p.R406K	SDK2_uc010dfn.2_Missense_Mutation_p.R85K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	406	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.16	7.690154	10.437066	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71429966	71429966	14455	17	C	T	T	T	416	32	SDK2	2	2
KIF19	124602	broad.mit.edu	37	17	72350682	72350682	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72350682A>T	uc002jkm.3	+	c.2690A>T	c.(2689-2691)GAG>GTG	p.E897V		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	897					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.214286	6.517571	7.572902	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72350682	72350682	8593	17	A	T	T	T	143	11	KIF19	3	3
GAS7	8522	broad.mit.edu	37	17	9850262	9850262	+	Silent	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9850262C>G	uc002gmg.1	-	c.564G>C	c.(562-564)CCG>CCC	p.P188P	GAS7_uc010vvc.1_Silent_p.P2P|GAS7_uc002gmh.1_Silent_p.P48P|GAS7_uc010vvd.1_Silent_p.P140P|GAS7_uc002gmi.2_Silent_p.P124P|GAS7_uc002gmj.1_Silent_p.P128P|GAS7_uc010coh.1_Silent_p.P128P	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	188					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.381818	62.768674	63.439558	21	34	KEEP	---	---	---	---	capture		Silent	SNP	9850262	9850262	6514	17	C	G	G	G	288	23	GAS7	3	3
NOL4	8715	broad.mit.edu	37	18	31538324	31538324	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31538324C>G	uc010dmi.2	-	c.1115G>C	c.(1114-1116)GGA>GCA	p.G372A	NOL4_uc010xbs.1_Missense_Mutation_p.G87A|NOL4_uc002kxr.3_Missense_Mutation_p.G208A|NOL4_uc010xbt.1_Missense_Mutation_p.G298A|NOL4_uc010dmh.2_Missense_Mutation_p.G298A|NOL4_uc010xbu.1_Missense_Mutation_p.G372A|NOL4_uc002kxt.3_Missense_Mutation_p.G372A|NOL4_uc010xbv.1_Missense_Mutation_p.G121A|NOL4_uc010xbw.1_Missense_Mutation_p.G258A	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	372						nucleolus	RNA binding			ovary(3)	3														0.203636	157.729152	180.168863	56	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538324	31538324	10927	18	C	G	G	G	390	30	NOL4	3	3
LIPG	9388	broad.mit.edu	37	18	47091826	47091826	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47091826C>G	uc002ldv.2	+	c.237C>G	c.(235-237)TTC>TTG	p.F79L	LIPG_uc002ldu.1_Missense_Mutation_p.F79L|LIPG_uc010xdh.1_Missense_Mutation_p.F79L	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	79					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)	1						Pancreas(126;280 1778 12814 26243 34948)								0.071429	1.14584	19.690139	7	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47091826	47091826	9150	18	C	G	G	G	376	29	LIPG	3	3
SERPINB3	6317	broad.mit.edu	37	18	61323171	61323171	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61323171G>A	uc002lji.2	-	c.893C>T	c.(892-894)ACG>ATG	p.T298M	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.T246M	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	298					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2														0.240385	57.318286	63.719685	25	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61323171	61323171	14590	18	G	A	A	A	520	40	SERPINB3	1	1
YES1	7525	broad.mit.edu	37	18	743353	743353	+	Nonsense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:743353G>A	uc002kky.2	-	c.787C>T	c.(787-789)CAA>TAA	p.Q263*	YES1_uc002kkz.2_Nonsense_Mutation_p.Q263*	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	263					blood coagulation|leukocyte migration|protein phosphorylation|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)					156				0.258333	75.561459	81.917153	31	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	743353	743353	18057	18	G	A	A	A	585	45	YES1	5	2
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10600447G>A	uc002moq.1	-	c.1408C>T	c.(1408-1410)CGT>TGT	p.R470C	KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.4	63.065862	63.596047	24	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10600447	10600447	8447	19	G	A	A	A	481	37	KEAP1	1	1
STK11	6794	broad.mit.edu	37	19	1220434	1220434	+	Missense_Mutation	SNP	A	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1220434A>C	uc002lrl.1	+	c.527A>C	c.(526-528)GAC>GCC	p.D176A		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	176	Protein kinase.	Proton acceptor.		D->Y: Loss of kinase activity.	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.Y156fs*87(4)|p.G52_P179del(1)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.222222	11.190836	12.468084	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1220434	1220434	15807	19	A	C	C	C	130	10	STK11	4	4
B3GNT3	10331	broad.mit.edu	37	19	17922725	17922725	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17922725G>C	uc002nhk.1	+	c.913G>C	c.(913-915)GAG>CAG	p.E305Q	B3GNT3_uc002nhl.1_Missense_Mutation_p.E305Q|B3GNT3_uc010ebd.1_Missense_Mutation_p.E305Q|B3GNT3_uc010ebe.1_Missense_Mutation_p.E305Q	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	305	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity				0														0.175355	92.676627	113.623293	37	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17922725	17922725	1279	19	G	C	C	C	533	41	B3GNT3	3	3
ZNF43	7594	broad.mit.edu	37	19	21990838	21990838	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21990838T>A	uc002nqj.2	-	c.2001A>T	c.(1999-2001)AAA>AAT	p.K667N	ZNF43_uc010ecv.2_Missense_Mutation_p.K661N|ZNF43_uc002nql.2_Missense_Mutation_p.K661N|ZNF43_uc002nqm.2_Missense_Mutation_p.K661N|ZNF43_uc002nqk.2_Missense_Mutation_p.K597N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	667	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)										0.296875	49.197722	51.560518	19	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21990838	21990838	18496	19	T	A	A	A	777	60	ZNF43	3	3
ZNF681	148213	broad.mit.edu	37	19	23927473	23927473	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23927473C>T	uc002nrk.3	-	c.879G>A	c.(877-879)CAG>CAA	p.Q293Q	ZNF681_uc002nrl.3_Silent_p.Q224Q|ZNF681_uc002nrj.3_Silent_p.Q224Q	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	293	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.298851	70.313578	73.4611	26	61	KEEP	---	---	---	---	capture		Silent	SNP	23927473	23927473	18683	19	C	T	T	T	259	20	ZNF681	2	2
RYR1	6261	broad.mit.edu	37	19	39076591	39076591	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39076591C>A	uc002oit.2	+	c.14817C>A	c.(14815-14817)GAC>GAA	p.D4939E	RYR1_uc002oiu.2_Missense_Mutation_p.D4934E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4939			D -> E (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.170732	44.498228	57.110155	21	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39076591	39076591	14248	19	C	A	A	A	246	19	RYR1	1	1
PRKD2	25865	broad.mit.edu	37	19	47207494	47207494	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47207494C>T	uc010xye.1	-	c.821G>A	c.(820-822)CGG>CAG	p.R274Q	PRKD2_uc002pfg.2_Missense_Mutation_p.R117Q|PRKD2_uc002pfh.2_Missense_Mutation_p.R274Q|PRKD2_uc002pfi.2_Missense_Mutation_p.R274Q|PRKD2_uc002pfj.2_Missense_Mutation_p.R274Q|PRKD2_uc002pfk.2_Missense_Mutation_p.R117Q	NM_016457	NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	274	Phorbol-ester/DAG-type 2.				cell death|intracellular signal transduction|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)						242		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.076923	-1.011653	13.281059	6	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47207494	47207494	12962	19	C	T	T	T	299	23	PRKD2	1	1
GRLF1	2909	broad.mit.edu	37	19	47422497	47422497	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47422497G>A	uc010ekv.2	+	c.565G>A	c.(565-567)GCA>ACA	p.A189T		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	189					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)										0.410959	81.029975	81.536953	30	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47422497	47422497	7074	19	G	A	A	A	598	46	GRLF1	2	2
HSD17B14	51171	broad.mit.edu	37	19	49316528	49316528	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49316528C>A	uc002pkv.1	-	c.717G>T	c.(715-717)ACG>ACT	p.T239T	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Missense_Mutation_p.R207L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	239					oxidation-reduction process|steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)										0.363636	10.596735	10.77678	4	7	KEEP	---	---	---	---	capture		Silent	SNP	49316528	49316528	7678	19	C	A	A	A	288	23	HSD17B14	1	1
MYADM	91663	broad.mit.edu	37	19	54377186	54377186	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54377186G>C	uc002qcl.2	+	c.403G>C	c.(403-405)GAC>CAC	p.D135H	MYADM_uc002qcm.2_Missense_Mutation_p.D135H|MYADM_uc002qcn.2_Missense_Mutation_p.D135H|MYADM_uc002qco.2_Missense_Mutation_p.D135H|MYADM_uc002qcp.2_Missense_Mutation_p.D135H	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	135	MARVEL 1.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)										0.25	63.056184	67.81337	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54377186	54377186	10400	19	G	C	C	C	533	41	MYADM	3	3
LENG8	114823	broad.mit.edu	37	19	54963275	54963275	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54963275C>T	uc002qfw.2	+	c.44C>T	c.(43-45)TCT>TTT	p.S15F	LENG8_uc002qfv.1_Missense_Mutation_p.S15F	NM_052925	NP_443157	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster member 8	15							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)										0.25974	49.458868	53.488231	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54963275	54963275	9048	19	C	T	T	T	416	32	LENG8	2	2
MUC16	94025	broad.mit.edu	37	19	9071203	9071203	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9071203C>T	uc002mkp.2	-	c.16243G>A	c.(16243-16245)GCC>ACC	p.A5415T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5417	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														0.317544	466.16872	483.041286	181	389	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9071203	9071203	10367	19	C	T	T	T	351	27	MUC16	1	1
VCAM1	7412	broad.mit.edu	37	1	101188709	101188709	+	Silent	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101188709C>G	uc001dti.2	+	c.474C>G	c.(472-474)CTC>CTG	p.L158L	VCAM1_uc001dtj.2_Silent_p.L158L|VCAM1_uc010ouj.1_Silent_p.L96L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	158	Ig-like C2-type 2.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.133333	12.516945	18.389183	6	39	KEEP	---	---	---	---	capture		Silent	SNP	101188709	101188709	17702	1	C	G	G	G	366	29	VCAM1	3	3
PRAMEF18	391003	broad.mit.edu	37	1	13695841	13695841	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:13695841C>T	uc009vny.1	-	c.1124G>A	c.(1123-1125)CGC>CAC	p.R375H		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	375											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.210526	75.206192	88.464458	36	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13695841	13695841	12870	1	C	T	T	T	351	27	PRAMEF18	1	1
ATAD3A	55210	broad.mit.edu	37	1	1455541	1455541	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1455541G>T	uc001afz.1	+	c.679G>T	c.(679-681)GAG>TAG	p.E227*	ATAD3A_uc001aga.1_Nonsense_Mutation_p.E179*|ATAD3A_uc001agb.1_Nonsense_Mutation_p.E100*	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	227	Potential.						ATP binding|nucleoside-triphosphatase activity|protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)										0.181818	7.088377	9.180189	4	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1455541	1455541	1092	1	G	T	T	T	533	41	ATAD3A	5	2
OR10T2	128360	broad.mit.edu	37	1	158368421	158368421	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158368421G>T	uc010pih.1	-	c.836C>A	c.(835-837)ACA>AAA	p.T279K		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	279	Helical; Name=7; (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)													0.125	6.444082	11.942326	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158368421	158368421	11325	1	G	T	T	T	624	48	OR10T2	2	2
OR10K2	391107	broad.mit.edu	37	1	158389737	158389737	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158389737C>A	uc010pii.1	-	c.920G>T	c.(919-921)AGA>ATA	p.R307I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.3125	62.637282	65.146024	25	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158389737	158389737	11320	1	C	A	A	A	416	32	OR10K2	2	2
SPTA1	6708	broad.mit.edu	37	1	158585067	158585067	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158585067C>A	uc001fst.1	-	c.6727G>T	c.(6727-6729)GAC>TAC	p.D2243Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2243	Spectrin 21.				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)													0.35	278.473467	284.838894	112	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158585067	158585067	15630	1	C	A	A	A	390	30	SPTA1	2	2
SPTA1	6708	broad.mit.edu	37	1	158654955	158654955	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158654955G>T	uc001fst.1	-	c.207C>A	c.(205-207)ATC>ATA	p.I69I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	69	Spectrin 2.				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)													0.125	14.694779	28.992856	13	91	KEEP	---	---	---	---	capture		Silent	SNP	158654955	158654955	15630	1	G	T	T	T	577	45	SPTA1	2	2
TAGLN2	8407	broad.mit.edu	37	1	159890120	159890120	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159890120C>A	uc001fum.1	-	c.180G>T	c.(178-180)ACG>ACT	p.T60T	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.T60T|TAGLN2_uc001fuo.1_Silent_p.T60T|TAGLN2_uc010piy.1_Silent_p.T60T	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	60	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.121622	12.225736	22.602858	9	65	KEEP	---	---	---	---	capture		Silent	SNP	159890120	159890120	16060	1	C	A	A	A	288	23	TAGLN2	1	1
FCGR3B	2215	broad.mit.edu	37	1	161599655	161599655	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161599655C>A	uc009wul.2	-	c.232G>T	c.(232-234)GCT>TCT	p.A78S		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	78	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.15528	43.979785	62.303284	25	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161599655	161599655	6022	1	C	A	A	A	351	27	FCGR3B	1	1
BLZF1	8548	broad.mit.edu	37	1	169356319	169356319	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169356319G>T	uc001gfx.1	+	c.1102G>T	c.(1102-1104)GCT>TCT	p.A368S	BLZF1_uc001gfy.2_Missense_Mutation_p.A368S|BLZF1_uc009wvp.1_3'UTR	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	368				A -> V (in Ref. 2; AAG37822).	cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	all_hematologic(923;0.208)													0.267717	87.62181	93.791197	34	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169356319	169356319	1478	1	G	T	T	T	598	46	BLZF1	2	2
F5	2153	broad.mit.edu	37	1	169526011	169526011	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169526011G>T	uc001ggg.1	-	c.825C>A	c.(823-825)GTC>GTA	p.V275V	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	275	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.215385	28.611713	33.474767	14	51	KEEP	---	---	---	---	capture		Silent	SNP	169526011	169526011	5542	1	G	T	T	T	522	41	F5	2	2
KLHDC7A	127707	broad.mit.edu	37	1	18809312	18809312	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18809312G>C	uc001bax.2	+	c.1837G>C	c.(1837-1839)GAC>CAC	p.D613H	KLHDC7A_uc009vpg.2_Missense_Mutation_p.D395H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	613	Kelch 4.					integral to membrane				ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)										0.291667	21.115495	22.048346	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18809312	18809312	8672	1	G	C	C	C	533	41	KLHDC7A	3	3
ASPM	259266	broad.mit.edu	37	1	197062239	197062239	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197062239A>T	uc001gtu.2	-	c.9237T>A	c.(9235-9237)TTT>TTA	p.F3079L	ASPM_uc001gtv.2_Missense_Mutation_p.F1494L|ASPM_uc001gtw.3_Missense_Mutation_p.F927L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3079	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.069767	-4.615813	11.821241	6	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197062239	197062239	1075	1	A	T	T	T	167	13	ASPM	3	3
GNPAT	8443	broad.mit.edu	37	1	231403468	231403468	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231403468C>T	uc001hup.3	+	c.1098C>T	c.(1096-1098)GTC>GTT	p.V366V	GNPAT_uc009xfp.2_Silent_p.V305V	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	366					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)												0.231707	83.961072	94.782024	38	126	KEEP	---	---	---	---	capture		Silent	SNP	231403468	231403468	6810	1	C	T	T	T	366	29	GNPAT	2	2
LUZP1	7798	broad.mit.edu	37	1	23417973	23417973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23417973G>A	uc001bgk.2	-	c.2782C>T	c.(2782-2784)CGA>TGA	p.R928*	LUZP1_uc010odv.1_Nonsense_Mutation_p.R928*|LUZP1_uc001bgl.2_Nonsense_Mutation_p.R928*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R928*	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)										0.177033	65.54178	86.091224	37	172	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23417973	23417973	9462	1	G	A	A	A	493	38	LUZP1	5	1
TBCE	6905	broad.mit.edu	37	1	235600787	235600787	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235600787G>T	uc010pxr.1	+	c.1267G>T	c.(1267-1269)GAG>TAG	p.E423*	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Nonsense_Mutation_p.E372*|TBCE_uc001hxa.1_Nonsense_Mutation_p.E372*|TBCE_uc001hxb.1_Nonsense_Mutation_p.E259*	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	372	LRRCT.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)											0.152778	15.572349	23.886698	11	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	235600787	235600787	16160	1	G	T	T	T	585	45	TBCE	5	2
ZP4	57829	broad.mit.edu	37	1	238048822	238048822	+	Silent	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048822C>G	uc001hym.2	-	c.1029G>C	c.(1027-1029)CGG>CGC	p.R343R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	343	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.346939	103.817684	105.84573	34	64	KEEP	---	---	---	---	capture		Silent	SNP	238048822	238048822	18822	1	C	G	G	G	275	22	ZP4	3	3
SLC30A2	7780	broad.mit.edu	37	1	26369043	26369043	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26369043G>C	uc001blg.1	-	c.729C>G	c.(727-729)TTC>TTG	p.F243L	SLC30A2_uc001blh.1_Missense_Mutation_p.F194L	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 1	194	Vacuolar (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)										0.211009	58.03696	66.492265	23	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26369043	26369043	15052	1	G	C	C	C	581	45	SLC30A2	3	3
FAM76A	199870	broad.mit.edu	37	1	28081716	28081716	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28081716G>T	uc001bor.2	+	c.712G>T	c.(712-714)GAC>TAC	p.D238Y	FAM76A_uc009vtb.2_Missense_Mutation_p.D204Y|FAM76A_uc001boq.2_Missense_Mutation_p.D204Y|FAM76A_uc001bos.2_Missense_Mutation_p.D209Y|FAM76A_uc001bot.2_Missense_Mutation_p.D175Y|FAM76A_uc010ofm.1_Missense_Mutation_p.D124Y	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	hypothetical protein LOC199870 isoform 1	204											0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)										0.141304	36.812545	59.667405	26	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28081716	28081716	5850	1	G	T	T	T	429	33	FAM76A	2	2
YTHDF2	51441	broad.mit.edu	37	1	29069062	29069062	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29069062A>T	uc001brc.2	+	c.280A>T	c.(280-282)AAC>TAC	p.N94Y	YTHDF2_uc001brd.2_Missense_Mutation_p.N91Y|YTHDF2_uc010ofx.1_Missense_Mutation_p.N44Y|YTHDF2_uc001bre.2_Missense_Mutation_p.N44Y	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	94					humoral immune response					ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)										0.143564	40.769528	65.469001	29	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29069062	29069062	18082	1	A	T	T	T	65	5	YTHDF2	3	3
SLC6A9	6536	broad.mit.edu	37	1	44463634	44463634	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44463634C>G	uc001cll.2	-	c.1819G>C	c.(1819-1821)GGC>CGC	p.G607R	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.G553R|SLC6A9_uc009vxd.2_Non-coding_Transcript|SLC6A9_uc010okn.1_Missense_Mutation_p.G538R|SLC6A9_uc001cln.2_Missense_Mutation_p.G534R|SLC6A9_uc010oko.1_Missense_Mutation_p.G423R	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	607						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)									0.142857	10.387517	16.418956	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44463634	44463634	15188	1	C	G	G	G	312	24	SLC6A9	3	3
AK5	26289	broad.mit.edu	37	1	77752671	77752671	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77752671G>T	uc001dhn.2	+	c.106G>T	c.(106-108)GAA>TAA	p.E36*	AK5_uc001dho.2_Nonsense_Mutation_p.E10*|AK5_uc001dhm.1_Nonsense_Mutation_p.E36*	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	36					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.341463	74.367884	76.192548	28	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77752671	77752671	446	1	G	T	T	T	429	33	AK5	5	2
ZNF133	7692	broad.mit.edu	37	20	18296557	18296557	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18296557C>T	uc010zrv.1	+	c.1071C>T	c.(1069-1071)ATC>ATT	p.I357I	ZNF133_uc010gcq.2_Silent_p.I354I|ZNF133_uc010zrw.1_Silent_p.I291I|ZNF133_uc010gcr.2_Silent_p.I354I|ZNF133_uc010zrx.1_Silent_p.I259I|ZNF133_uc002wql.3_Silent_p.I353I|ZNF133_uc010gcs.2_Silent_p.I353I|ZNF133_uc010zry.1_Silent_p.I259I|ZNF133_uc002wqm.2_Silent_p.I354I	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	354	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.151515	16.420316	24.08616	10	56	KEEP	---	---	---	---	capture		Silent	SNP	18296557	18296557	18314	20	C	T	T	T	395	31	ZNF133	1	1
CD93	22918	broad.mit.edu	37	20	23066668	23066668	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23066668G>T	uc002wsv.2	-	c.162C>A	c.(160-162)AAC>AAA	p.N54K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	54	Extracellular (Potential).|C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	integral to membrane|plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)													0.190476	6.685298	8.56931	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23066668	23066668	3175	20	G	T	T	T	568	44	CD93	2	2
NINL	22981	broad.mit.edu	37	20	25470571	25470571	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25470571C>T	uc002wux.1	-	c.1536G>A	c.(1534-1536)TCG>TCA	p.S512S	NINL_uc010gdn.1_Silent_p.S512S|NINL_uc010gdo.1_Silent_p.S295S	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	512	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.142857	42.109581	63.57738	25	150	KEEP	---	---	---	---	capture		Silent	SNP	25470571	25470571	10821	20	C	T	T	T	288	23	NINL	1	1
ATRN	8455	broad.mit.edu	37	20	3529977	3529977	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3529977G>T	uc002wim.2	+	c.1104G>T	c.(1102-1104)ATG>ATT	p.M368I	ATRN_uc002wil.2_Missense_Mutation_p.M368I	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	368	Extracellular (Potential).|Kelch 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.236111	77.575031	86.749238	34	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3529977	3529977	1225	20	G	T	T	T	611	47	ATRN	2	2
C20orf117	140710	broad.mit.edu	37	20	35433300	35433300	+	Silent	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35433300A>G	uc002xgd.1	-	c.2211T>C	c.(2209-2211)AAT>AAC	p.N737N	C20orf117_uc002xge.1_Non-coding_Transcript	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	737											0		Myeloproliferative disorder(115;0.00874)												0.140351	13.283661	20.385884	8	49	KEEP	---	---	---	---	capture		Silent	SNP	35433300	35433300	2159	20	A	G	G	G	102	8	C20orf117	4	4
CSE1L	1434	broad.mit.edu	37	20	47682795	47682795	+	Silent	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47682795T>C	uc002xty.2	+	c.295T>C	c.(295-297)TTG>CTG	p.L99L	CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Silent_p.L99L	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	99	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)											0.07	1.642217	20.725793	7	93	KEEP	---	---	---	---	capture		Silent	SNP	47682795	47682795	4071	20	T	C	C	C	725	56	CSE1L	4	4
DDX27	55661	broad.mit.edu	37	20	47853035	47853035	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47853035A>G	uc002xuh.2	+	c.1768A>G	c.(1768-1770)ATA>GTA	p.I590V		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	590	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.120482	11.693258	23.425912	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47853035	47853035	4525	20	A	G	G	G	156	12	DDX27	4	4
SALL4	57167	broad.mit.edu	37	20	50407847	50407847	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50407847C>A	uc002xwh.3	-	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	392	C2H2-type 1.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.128788	20.777533	38.503178	17	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50407847	50407847	14293	20	C	A	A	A	286	22	SALL4	2	2
SALL4	57167	broad.mit.edu	37	20	50408823	50408823	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50408823G>A	uc002xwh.3	-	c.199C>T	c.(199-201)CGT>TGT	p.R67C	SALL4_uc010gii.2_Missense_Mutation_p.R67C|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	67					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.21519	36.942959	42.851884	17	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50408823	50408823	14293	20	G	A	A	A	481	37	SALL4	1	1
KRTAP19-3	337970	broad.mit.edu	37	21	31864110	31864110	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31864110C>A	uc002yog.1	-	c.166G>T	c.(166-168)GGC>TGC	p.G56C		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	56						intermediate filament					0														0.276042	129.384552	138.060554	53	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31864110	31864110	8845	21	C	A	A	A	273	21	KRTAP19-3	2	2
GAB4	128954	broad.mit.edu	37	22	17472980	17472980	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17472980G>T	uc002zlw.2	-	c.261C>A	c.(259-261)TCC>TCA	p.S87S	GAB4_uc010gqs.1_Silent_p.S87S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	87	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.180887	102.292172	130.349336	53	240	KEEP	---	---	---	---	capture		Silent	SNP	17472980	17472980	6402	22	G	T	T	T	600	47	GAB4	2	2
PLA2G3	50487	broad.mit.edu	37	22	31536292	31536292	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31536292C>G	uc003aka.2	-	c.49G>C	c.(49-51)GCC>CCC	p.A17P		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	17					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0														0.156627	20.81856	30.262288	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31536292	31536292	12426	22	C	G	G	G	338	26	PLA2G3	3	3
MYH9	4627	broad.mit.edu	37	22	36723529	36723529	+	Silent	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36723529T>A	uc003apg.2	-	c.495A>T	c.(493-495)CGA>CGT	p.R165R	MYH9_uc003aph.1_Silent_p.R29R|MYH9_uc003api.1_Silent_p.R165R	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	165	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	10										1624				0.173077	16.241914	21.492464	9	43	KEEP	---	---	---	---	capture		Silent	SNP	36723529	36723529	10437	22	T	A	A	A	691	54	MYH9	3	3
SLC9A2	6549	broad.mit.edu	37	2	103281707	103281707	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103281707G>T	uc002tca.2	+	c.902G>T	c.(901-903)CGA>CTA	p.R301L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	301	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.19697	53.370949	64.668345	26	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103281707	103281707	15209	2	G	T	T	T	481	37	SLC9A2	1	1
SNTG2	54221	broad.mit.edu	37	2	1093936	1093936	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1093936A>G	uc002qwq.2	+	c.265A>G	c.(265-267)AAG>GAG	p.K89E	SNTG2_uc002qwp.2_Non-coding_Transcript|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	89	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)										0.238994	221.356161	241.125109	76	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1093936	1093936	15375	2	A	G	G	G	13	1	SNTG2	4	4
ROCK2	9475	broad.mit.edu	37	2	11484135	11484135	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11484135A>T	uc002rbd.1	-	c.128T>A	c.(127-129)GTG>GAG	p.V43E		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	43					axon guidance|cytokinesis|intracellular signal transduction|protein phosphorylation	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			skin(2)|stomach(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)						587				0.361111	37.16651	37.777121	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11484135	11484135	13997	2	A	T	T	T	78	6	ROCK2	3	3
CLASP1	23332	broad.mit.edu	37	2	122363412	122363412	+	Silent	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122363412T>A	uc002tnc.2	-	c.60A>T	c.(58-60)CGA>CGT	p.R20R	CLASP1_uc010yyy.1_Non-coding_Transcript|CLASP1_uc010yyz.1_Silent_p.R20R|CLASP1_uc010yza.1_Silent_p.R20R|CLASP1_uc010yzb.1_Non-coding_Transcript|CLASP1_uc010yzc.1_Non-coding_Transcript|CLASP1_uc002tng.1_Silent_p.R20R	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	20					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)													0.295918	78.335927	81.987481	29	69	KEEP	---	---	---	---	capture		Silent	SNP	122363412	122363412	3590	2	T	A	A	A	639	50	CLASP1	3	3
KCNJ3	3760	broad.mit.edu	37	2	155711649	155711649	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155711649C>T	uc002tyv.1	+	c.1330C>T	c.(1330-1332)CCG>TCG	p.P444S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	444	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.17	33.208049	43.515541	17	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155711649	155711649	8357	2	C	T	T	T	390	30	KCNJ3	2	2
ZNF804A	91752	broad.mit.edu	37	2	185803192	185803192	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803192C>A	uc002uph.2	+	c.3069C>A	c.(3067-3069)ATC>ATA	p.I1023I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1023						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.239583	101.441234	113.339613	46	146	KEEP	---	---	---	---	capture		Silent	SNP	185803192	185803192	18768	2	C	A	A	A	382	30	ZNF804A	2	2
ORC2L	4999	broad.mit.edu	37	2	201785052	201785052	+	Silent	SNP	A	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201785052A>C	uc002uwr.2	-	c.1359T>G	c.(1357-1359)CCT>CCG	p.P453P	ORC2L_uc010zhj.1_Silent_p.P453P	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	453					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0														0.08046	1.953263	17.568142	7	80	KEEP	---	---	---	---	capture		Silent	SNP	201785052	201785052	11673	2	A	C	C	C	28	3	ORC2L	4	4
CASP8	841	broad.mit.edu	37	2	202149749	202149749	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202149749C>G	uc002uxt.1	+	c.1190C>G	c.(1189-1191)TCT>TGT	p.S397C	CASP8_uc002uxp.1_Missense_Mutation_p.S355C|CASP8_uc002uxq.1_Missense_Mutation_p.S323C|CASP8_uc002uxr.1_Missense_Mutation_p.S338C|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxw.1_Missense_Mutation_p.S323C|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.S254C	NM_001080125	NP_001073594	Q14790	CASP8_HUMAN	caspase 8 isoform G precursor	338					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	p.S355F(1)		upper_aerodigestive_tract(1)|skin(1)	2						Melanoma(82;831 1348 20716 36952 40159)				239				0.154206	79.037058	103.495551	33	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202149749	202149749	2796	2	C	G	G	G	416	32	CASP8	3	3
PIKFYVE	200576	broad.mit.edu	37	2	209212732	209212732	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209212732G>A	uc002vcz.2	+	c.5359G>A	c.(5359-5361)GGC>AGC	p.G1787S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1787	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.10084	11.804445	30.733729	12	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209212732	209212732	12348	2	G	A	A	A	455	35	PIKFYVE	2	2
SLC23A3	151295	broad.mit.edu	37	2	220028231	220028231	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220028231G>C	uc010zkr.1	-	c.1344C>G	c.(1342-1344)TTC>TTG	p.F448L	NHEJ1_uc002vjp.3_5'Flank|NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zks.1_Missense_Mutation_p.F440L|SLC23A3_uc010fwb.2_Missense_Mutation_p.F323L	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	440	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.125	54.939038	90.091943	32	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220028231	220028231	14961	2	G	C	C	C	425	33	SLC23A3	3	3
ALPP	250	broad.mit.edu	37	2	233245131	233245131	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233245131G>A	uc002vsq.2	+	c.794G>A	c.(793-795)GGT>GAT	p.G265D	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	265						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)										0.1375	30.734654	51.084056	22	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233245131	233245131	551	2	G	A	A	A	572	44	ALPP	2	2
ETAA1	54465	broad.mit.edu	37	2	67632126	67632126	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:67632126C>G	uc002sdz.1	+	c.2312C>G	c.(2311-2313)CCA>CGA	p.P771R		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	771						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4														0.155556	16.99384	22.093187	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67632126	67632126	5460	2	C	G	G	G	273	21	ETAA1	3	3
DCTN1	1639	broad.mit.edu	37	2	74590188	74590189	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74590188_74590189CT>AA	uc002skx.2	-	c.3461_3462AG>TT	c.(3460-3462)CAG>CTT	p.Q1154L	SLC4A5_uc002skl.2_Non-coding_Transcript|DCTN1_uc002skt.1_Missense_Mutation_p.Q88L|DCTN1_uc002skv.2_Missense_Mutation_p.Q1020L|DCTN1_uc002sku.2_Missense_Mutation_p.Q1015L|DCTN1_uc002skw.1_Missense_Mutation_p.Q1130L|DCTN1_uc010ffd.2_Missense_Mutation_p.Q1129L|DCTN1_uc002sky.2_Missense_Mutation_p.Q1112L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1154					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)	3														0.3125	64.437937	66.946279	25	55	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	74590188	74590189	4477	2	CT	AA	AA	AA	363	28	DCTN1	2	2
SEMA4F	10505	broad.mit.edu	37	2	74903002	74903002	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74903002G>T	uc002sna.1	+	c.1609G>T	c.(1609-1611)GAT>TAT	p.D537Y	SEMA4F_uc010ffq.1_Missense_Mutation_p.D504Y|SEMA4F_uc010ffr.1_Missense_Mutation_p.D149Y|SEMA4F_uc002snb.1_Missense_Mutation_p.D149Y|SEMA4F_uc002snc.1_Missense_Mutation_p.D382Y	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	537	PSI.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)	3														0.277228	61.831604	66.362174	28	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74903002	74903002	14521	2	G	T	T	T	533	41	SEMA4F	2	2
VWA3B	200403	broad.mit.edu	37	2	98851134	98851134	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98851134A>G	uc002syo.2	+	c.2332A>G	c.(2332-2334)AGA>GGA	p.R778G	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.R297G|VWA3B_uc002sym.2_Missense_Mutation_p.R778G|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.R435G|VWA3B_uc002syp.1_Missense_Mutation_p.R170G|VWA3B_uc002syq.1_Missense_Mutation_p.R54G|VWA3B_uc002syr.1_Missense_Mutation_p.R95G|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	778										ovary(3)|large_intestine(2)	5														0.230769	41.546314	46.80061	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98851134	98851134	17810	2	A	G	G	G	88	7	VWA3B	4	4
RG9MTD1	54931	broad.mit.edu	37	3	101283774	101283774	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101283774C>T	uc003duz.2	+	c.149C>T	c.(148-150)CCT>CTT	p.P50L		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	50					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						Colon(61;905 1056 3196 19548 40505)								0.241758	182.207736	198.815312	66	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101283774	101283774	13744	3	C	T	T	T	312	24	RG9MTD1	2	2
PCNP	57092	broad.mit.edu	37	3	101298713	101298713	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101298713C>A	uc003dva.2	+	c.144C>A	c.(142-144)AGC>AGA	p.S48R	PCNP_uc003dvb.2_Non-coding_Transcript|PCNP_uc003dvc.2_Intron|PCNP_uc003dvd.2_Missense_Mutation_p.S48R	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	48					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0														0.295918	75.278243	78.906282	29	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101298713	101298713	12009	3	C	A	A	A	350	27	PCNP	1	1
BOC	91653	broad.mit.edu	37	3	112991383	112991383	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112991383C>A	uc003dzz.2	+	c.794C>A	c.(793-795)GCC>GAC	p.A265D	BOC_uc003dzx.2_Missense_Mutation_p.A265D|BOC_uc003dzy.2_Missense_Mutation_p.A265D|BOC_uc003eab.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	265	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)											0.093103	6.380728	54.728925	27	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112991383	112991383	1506	3	C	A	A	A	338	26	BOC	2	2
KIAA2018	205717	broad.mit.edu	37	3	113389016	113389016	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113389016C>T	uc003eam.2	-	c.111G>A	c.(109-111)GGG>GGA	p.G37G	KIAA2018_uc003eal.2_5'UTR	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	37	Helix-loop-helix motif.					membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.225	42.317105	47.869278	18	62	KEEP	---	---	---	---	capture		Silent	SNP	113389016	113389016	8579	3	C	T	T	T	379	30	KIAA2018	2	2
ACAD9	28976	broad.mit.edu	37	3	128623262	128623262	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128623262G>A	uc003ela.3	+	c.1063G>A	c.(1063-1065)GTC>ATC	p.V355I	ACAD9_uc010hsw.1_Missense_Mutation_p.V232I|ACAD9_uc011bks.1_Missense_Mutation_p.V232I|ACAD9_uc003elb.2_Missense_Mutation_p.V232I|ACAD9_uc003eld.1_Non-coding_Transcript|ACAD9_uc003ele.2_Missense_Mutation_p.V7I	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	355					oxidation-reduction process	mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3														0.164384	42.706051	58.325515	24	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128623262	128623262	112	3	G	A	A	A	520	40	ACAD9	1	1
CLDN18	51208	broad.mit.edu	37	3	137717893	137717893	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137717893C>A	uc003ero.1	+	c.183C>A	c.(181-183)ACC>ACA	p.T61T		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	61	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1														0.125	18.860043	34.293462	14	98	KEEP	---	---	---	---	capture		Silent	SNP	137717893	137717893	3615	3	C	A	A	A	288	23	CLDN18	1	1
ZBBX	79740	broad.mit.edu	37	3	167035342	167035342	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167035342G>T	uc011bpc.1	-	c.1027C>A	c.(1027-1029)CCA>ACA	p.P343T	ZBBX_uc003fep.2_Missense_Mutation_p.P343T|ZBBX_uc003feq.2_Missense_Mutation_p.P314T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	343						intracellular	zinc ion binding			ovary(2)	2														0.115702	15.057515	32.659408	14	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167035342	167035342	18100	3	G	T	T	T	559	43	ZBBX	2	2
SPATA16	83893	broad.mit.edu	37	3	172642104	172642104	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172642104T>C	uc003fin.3	-	c.1232A>G	c.(1231-1233)CAT>CGT	p.H411R		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	411					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.295652	91.906113	96.2012	34	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172642104	172642104	15509	3	T	C	C	C	663	51	SPATA16	4	4
KCNH8	131096	broad.mit.edu	37	3	19436596	19436596	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19436596G>T	uc003cbk.1	+	c.970G>T	c.(970-972)GTG>TTG	p.V324L	KCNH8_uc011awe.1_Missense_Mutation_p.V324L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	324	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.349206	122.764516	125.291513	44	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19436596	19436596	8343	3	G	T	T	T	572	44	KCNH8	2	2
SCN10A	6336	broad.mit.edu	37	3	38830506	38830506	+	Silent	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38830506C>G	uc003ciq.2	-	c.411G>C	c.(409-411)ACG>ACC	p.T137T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	137	Helical; Name=S1 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.205882	34.746929	40.175493	14	54	KEEP	---	---	---	---	capture		Silent	SNP	38830506	38830506	14394	3	C	G	G	G	288	23	SCN10A	3	3
TRAK1	22906	broad.mit.edu	37	3	42264897	42264897	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42264897G>T	uc003cky.2	+	c.2530G>T	c.(2530-2532)GTG>TTG	p.V844L	TRAK1_uc011azi.1_Missense_Mutation_p.V823L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	844					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.145455	14.168687	20.813533	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42264897	42264897	16993	3	G	T	T	T	520	40	TRAK1	1	1
TGM4	7047	broad.mit.edu	37	3	44945470	44945470	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44945470C>A	uc003coc.3	+	c.1066C>A	c.(1066-1068)CGA>AGA	p.R356R		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	356					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.147059	28.180972	40.367114	15	87	KEEP	---	---	---	---	capture		Silent	SNP	44945470	44945470	16360	3	C	A	A	A	347	27	TGM4	1	1
SEMA3G	56920	broad.mit.edu	37	3	52470040	52470040	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52470040C>A	uc003dea.1	-	c.1928G>T	c.(1927-1929)CGC>CTC	p.R643L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	643	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)										0.170213	16.785783	21.609371	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52470040	52470040	14516	3	C	A	A	A	351	27	SEMA3G	1	1
OR5H15	403274	broad.mit.edu	37	3	97887972	97887972	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97887972G>T	uc011bgu.1	+	c.429G>T	c.(427-429)CGG>CGT	p.R143R		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.233333	51.024582	56.885968	21	69	KEEP	---	---	---	---	capture		Silent	SNP	97887972	97887972	11571	3	G	T	T	T	535	42	OR5H15	2	2
CENPE	1062	broad.mit.edu	37	4	104061004	104061004	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104061004T>C	uc003hxb.1	-	c.6146A>G	c.(6145-6147)GAA>GGA	p.E2049G	CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2049	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.278481	65.213407	68.702941	22	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104061004	104061004	3363	4	T	C	C	C	806	62	CENPE	4	4
TET2	54790	broad.mit.edu	37	4	106156700	106156700	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106156700G>C	uc011cez.1	+	c.1664G>C	c.(1663-1665)AGA>ACA	p.R555T	TET2_uc003hxk.2_Missense_Mutation_p.R534T|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc010ilp.1_Missense_Mutation_p.R534T|TET2_uc003hxi.1_Missense_Mutation_p.R534T	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	534					cell cycle|myeloid cell differentiation|oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P555fs*5(1)		haematopoietic_and_lymphoid_tissue(668)|pancreas(1)	669		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)						111				0.24359	57.986214	62.659383	19	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106156700	106156700	16297	4	G	C	C	C	429	33	TET2	3	3
NPNT	255743	broad.mit.edu	37	4	106863478	106863478	+	Missense_Mutation	SNP	A	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106863478A>C	uc011cfd.1	+	c.868A>C	c.(868-870)ATG>CTG	p.M290L	NPNT_uc003hya.2_Missense_Mutation_p.M260L|NPNT_uc011cfc.1_Missense_Mutation_p.M277L|NPNT_uc011cfe.1_Missense_Mutation_p.M290L|NPNT_uc010ilt.1_Missense_Mutation_p.M260L|NPNT_uc011cff.1_Missense_Mutation_p.M260L|NPNT_uc010ilu.1_Missense_Mutation_p.M156L	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	260					cell differentiation	membrane	calcium ion binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)										0.369863	95.43379	96.509102	27	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106863478	106863478	10995	4	A	C	C	C	208	16	NPNT	4	4
QDPR	5860	broad.mit.edu	37	4	17506088	17506088	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17506088T>A	uc003gpd.2	-	c.209A>T	c.(208-210)GAG>GTG	p.E70V	QDPR_uc003gpe.2_Missense_Mutation_p.E39V|QDPR_uc003gpf.2_Non-coding_Transcript	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	70					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|oxidation-reduction process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)									0.356322	86.000168	87.582489	31	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17506088	17506088	13330	4	T	A	A	A	702	54	QDPR	3	3
MUC7	4589	broad.mit.edu	37	4	71346522	71346522	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71346522G>T	uc011cat.1	+	c.61G>T	c.(61-63)GAA>TAA	p.E21*	MUC7_uc011cau.1_Nonsense_Mutation_p.E21*|MUC7_uc003hfj.2_Nonsense_Mutation_p.E21*	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	21						extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.180851	66.436944	84.441254	34	154	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71346522	71346522	10375	4	G	T	T	T	585	45	MUC7	5	2
CCT5	22948	broad.mit.edu	37	5	10256185	10256185	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10256185G>C	uc003jeq.2	+	c.450G>C	c.(448-450)AAG>AAC	p.K150N	CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.K150N|CCT5_uc010its.2_Missense_Mutation_p.K150N|CCT5_uc011cmr.1_Missense_Mutation_p.K95N|CCT5_uc011cms.1_Missense_Mutation_p.K112N|CCT5_uc011cmt.1_Missense_Mutation_p.K57N	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	150					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2														0.066667	0.286541	9.045109	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10256185	10256185	3083	5	G	C	C	C	425	33	CCT5	3	3
CCT5	22948	broad.mit.edu	37	5	10258515	10258515	+	Missense_Mutation	SNP	G	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10258515G>C	uc003jeq.2	+	c.741G>C	c.(739-741)AAG>AAC	p.K247N	CCT5_uc011cmq.1_Missense_Mutation_p.K94N|CCT5_uc003jer.2_Missense_Mutation_p.K247N|CCT5_uc010its.2_Missense_Mutation_p.K247N|CCT5_uc011cmr.1_Missense_Mutation_p.K192N|CCT5_uc011cms.1_Missense_Mutation_p.K209N|CCT5_uc011cmt.1_Missense_Mutation_p.K154N	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	247					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2														0.123596	43.118872	67.785481	22	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10258515	10258515	3083	5	G	C	C	C	425	33	CCT5	3	3
CCT5	22948	broad.mit.edu	37	5	10258621	10258621	+	Nonsense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10258621G>T	uc003jeq.2	+	c.847G>T	c.(847-849)GAG>TAG	p.E283*	CCT5_uc011cmq.1_Nonsense_Mutation_p.E130*|CCT5_uc003jer.2_Nonsense_Mutation_p.E283*|CCT5_uc010its.2_Nonsense_Mutation_p.E283*|CCT5_uc011cmr.1_Nonsense_Mutation_p.E228*|CCT5_uc011cms.1_Nonsense_Mutation_p.E245*|CCT5_uc011cmt.1_Nonsense_Mutation_p.E190*	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	283					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2														0.185484	40.647831	52.17903	23	101	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10258621	10258621	3083	5	G	T	T	T	533	41	CCT5	5	2
APC	324	broad.mit.edu	37	5	112178162	112178162	+	Nonsense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112178162C>T	uc010jby.2	+	c.6871C>T	c.(6871-6873)CAA>TAA	p.Q2291*	APC_uc011cvt.1_Nonsense_Mutation_p.Q2273*|APC_uc003kpz.3_Nonsense_Mutation_p.Q2291*|APC_uc003kpy.3_Nonsense_Mutation_p.Q2291*|APC_uc010jbz.2_Nonsense_Mutation_p.Q2008*|APC_uc010jca.2_Nonsense_Mutation_p.Q1591*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2291	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.104478	6.476654	16.901683	7	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112178162	112178162	773	5	C	T	T	T	273	21	APC	5	2
PCDHAC1	56135	broad.mit.edu	37	5	140307479	140307479	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140307479C>T	uc003lih.2	+	c.1002C>T	c.(1000-1002)AAC>AAT	p.N334N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.N334N	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	334	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.132	40.194963	73.119584	33	217	KEEP	---	---	---	---	capture		Silent	SNP	140307479	140307479	11952	5	C	T	T	T	246	19	PCDHAC1	1	1
PCDHB13	56123	broad.mit.edu	37	5	140595778	140595778	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140595778G>T	uc003lja.1	+	c.2083G>T	c.(2083-2085)GCC>TCC	p.A695S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	695	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.223744	107.823253	123.145635	49	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140595778	140595778	11958	5	G	T	T	T	546	42	PCDHB13	2	2
PCDHGB4	8641	broad.mit.edu	37	5	140768714	140768714	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140768714G>A	uc003lkc.1	+	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	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_uc011dav.1_Silent_p.T421T	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	421	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)											0.129032	26.396027	47.169251	20	135	KEEP	---	---	---	---	capture		Silent	SNP	140768714	140768714	11985	5	G	A	A	A	496	39	PCDHGB4	1	1
PCDHGA11	56105	broad.mit.edu	37	5	140802658	140802658	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140802658G>A	uc003lkq.1	+	c.1864G>A	c.(1864-1866)GAG>AAG	p.E622K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.E622K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.E622K	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	622	Extracellular (Potential).|Cadherin 6.				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)											0.09589	2.872055	14.829611	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140802658	140802658	11972	5	G	A	A	A	533	41	PCDHGA11	2	2
CDH12	1010	broad.mit.edu	37	5	21752001	21752001	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21752001T>A	uc010iuc.2	-	c.2230A>T	c.(2230-2232)AGT>TGT	p.S744C	CDH12_uc011cno.1_Missense_Mutation_p.S704C|CDH12_uc003jgk.2_Missense_Mutation_p.S744C	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	744	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.090909	0.111821	22.388891	12	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21752001	21752001	3227	5	T	A	A	A	702	54	CDH12	3	3
ZFR	51663	broad.mit.edu	37	5	32379244	32379244	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32379244T>A	uc003jhr.1	-	c.2812A>T	c.(2812-2814)ACT>TCT	p.T938S	ZFR_uc010ium.1_Missense_Mutation_p.T69S|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	938	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)										0.288889	35.357474	37.154875	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32379244	32379244	18249	5	T	A	A	A	780	60	ZFR	3	3
ARL15	54622	broad.mit.edu	37	5	53409207	53409207	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:53409207T>A	uc003jpg.1	-	c.287A>T	c.(286-288)TAC>TTC	p.Y96F	ARL15_uc010ivs.1_Non-coding_Transcript	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	96							GTP binding			ovary(1)	1		Lung NSC(810;0.000779)												0.241379	33.523881	37.061079	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53409207	53409207	946	5	T	A	A	A	741	57	ARL15	3	3
SKIV2L2	23517	broad.mit.edu	37	5	54654399	54654399	+	Splice_Site_SNP	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54654399A>T	uc003jpy.3	+	c.1534_splice	c.e15-2	p.I512_splice	SKIV2L2_uc011cqi.1_Splice_Site_SNP_p.I411_splice	NM_015360	NP_056175			superkiller viralicidic activity 2-like 2						maturation of 5.8S rRNA|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)	1		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				Melanoma(2;92 134 23744 29976 33782)								0.184615	26.761174	32.825117	12	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54654399	54654399	14855	5	A	T	T	T	91	7	SKIV2L2	5	3
RASGRF2	5924	broad.mit.edu	37	5	80388718	80388718	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80388718T>A	uc003kha.1	+	c.1489T>A	c.(1489-1491)TTA>ATA	p.L497I	RASGRF2_uc011ctn.1_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	497	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.09816	7.171695	33.540477	16	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80388718	80388718	13534	5	T	A	A	A	725	56	RASGRF2	3	3
LNPEP	4012	broad.mit.edu	37	5	96329658	96329658	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96329658C>T	uc003kmv.1	+	c.1390C>T	c.(1390-1392)CAT>TAT	p.H464Y	LNPEP_uc003kmw.1_Missense_Mutation_p.H450Y	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	464	Extracellular (Potential).	Zinc; catalytic (By similarity).			cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)										0.166667	36.18656	49.470922	21	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96329658	96329658	9193	5	C	T	T	T	377	29	LNPEP	2	2
SOBP	55084	broad.mit.edu	37	6	107854781	107854782	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107854781_107854782GG>CT	uc003prx.2	+	c.540_541GG>CT	c.(538-543)GCGGCC>GCCTCC	p.A181S	SOBP_uc003prw.1_Missense_Mutation_p.A181S	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	181							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)										0.146497	47.730854	66.577245	23	134	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	107854781	107854782	15412	6	GG	CT	CT	CT	496	39	SOBP	3	3
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17600920G>A	uc003ncc.2	+	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)											0.583333	20.930799	21.005329	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17600920	17600920	5875	6	G	A	A	A	481	37	FAM8A1	1	1
SCAND3	114821	broad.mit.edu	37	6	28541412	28541412	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28541412C>A	uc003nlo.2	-	c.2254G>T	c.(2254-2256)GGT>TGT	p.G752C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	752					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.212121	13.902984	16.435214	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28541412	28541412	14357	6	C	A	A	A	273	21	SCAND3	2	2
HSPA1L	3305	broad.mit.edu	37	6	31777944	31777944	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31777944C>G	uc003nxh.2	-	c.1806G>C	c.(1804-1806)GAG>GAC	p.E602D	HSPA1L_uc010jte.2_Missense_Mutation_p.E602D	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	602					response to unfolded protein		ATP binding			ovary(3)|kidney(1)|pleura(1)	5										2				0.106557	16.670069	35.456275	13	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31777944	31777944	7709	6	C	G	G	G	363	28	HSPA1L	3	3
CDC5L	988	broad.mit.edu	37	6	44371578	44371578	+	Missense_Mutation	SNP	T	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44371578T>G	uc003oxl.2	+	c.572T>G	c.(571-573)CTT>CGT	p.L191R		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	191	Potential.				cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)							515				0.177215	29.529304	37.261388	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44371578	44371578	3211	6	T	G	G	G	728	56	CDC5L	4	4
DST	667	broad.mit.edu	37	6	56462573	56462573	+	Nonsense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56462573G>A	uc003pdf.2	-	c.5803C>T	c.(5803-5805)CAG>TAG	p.Q1935*	DST_uc003pcz.3_Nonsense_Mutation_p.Q1757*|DST_uc011dxj.1_Nonsense_Mutation_p.Q1786*|DST_uc011dxk.1_Nonsense_Mutation_p.Q1797*|DST_uc003pcy.3_Nonsense_Mutation_p.Q1431*|DST_uc010kaa.1_Non-coding_Transcript	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3843					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				0.16129	35.412294	48.955332	20	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56462573	56462573	4967	6	G	A	A	A	585	45	DST	5	2
C6orf167	253714	broad.mit.edu	37	6	97679434	97679434	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97679434C>A	uc003ppb.2	-	c.1397G>T	c.(1396-1398)TGT>TTT	p.C466F	C6orf167_uc011eaf.1_Missense_Mutation_p.C426F|C6orf167_uc010kcn.1_Missense_Mutation_p.C240F	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	466					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)										0.108108	8.241504	19.51212	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97679434	97679434	2447	6	C	A	A	A	221	17	C6orf167	2	2
C7orf58	79974	broad.mit.edu	37	7	120629802	120629802	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120629802G>T	uc003vjq.3	+	c.127G>T	c.(127-129)GCC>TCC	p.A43S	C7orf58_uc003vjr.1_Missense_Mutation_p.A43S|C7orf58_uc003vjs.3_Missense_Mutation_p.A43S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	43						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.094595	3.386313	27.790588	14	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120629802	120629802	2512	7	G	T	T	T	442	34	C7orf58	2	2
CCDC136	64753	broad.mit.edu	37	7	128454821	128454821	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128454821C>G	uc003vnv.1	+	c.2893C>G	c.(2893-2895)CGC>GGC	p.R965G	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R781G|CCDC136_uc010llq.1_Missense_Mutation_p.R334G|CCDC136_uc003vny.1_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	965	Potential.					integral to membrane	protein binding			ovary(2)	2														0.285714	29.835795	31.27791	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128454821	128454821	2890	7	C	G	G	G	299	23	CCDC136	3	3
EXOC4	60412	broad.mit.edu	37	7	132973716	132973716	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132973716G>T	uc003vrk.2	+	c.317G>T	c.(316-318)TGC>TTC	p.C106F	EXOC4_uc011kpo.1_Missense_Mutation_p.C5F|EXOC4_uc003vri.2_Missense_Mutation_p.C106F|EXOC4_uc003vrj.2_Missense_Mutation_p.C106F	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	106	Potential.				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)	7		Esophageal squamous(399;0.129)												0.113924	9.412585	21.031205	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132973716	132973716	5499	7	G	T	T	T	598	46	EXOC4	2	2
AKR1B1	231	broad.mit.edu	37	7	134132119	134132119	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134132119G>T	uc003vrp.1	-	c.756C>A	c.(754-756)TTC>TTA	p.F252L	AKR1B1_uc003vrq.1_Non-coding_Transcript	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	252	NADP.				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|oxidation-reduction process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)									0.190476	29.548677	37.07601	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134132119	134132119	469	7	G	T	T	T	529	41	AKR1B1	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147914548	147914548	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147914548C>A	uc003weu.1	+	c.3179C>A	c.(3178-3180)GCG>GAG	p.A1060E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1060	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.256983	117.052852	126.648558	46	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147914548	147914548	3785	7	C	A	A	A	351	27	CNTNAP2	1	1
SLC4A2	6522	broad.mit.edu	37	7	150773267	150773267	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150773267G>A	uc003wit.3	+	c.3639G>A	c.(3637-3639)ATG>ATA	p.M1213I	SLC4A2_uc011kve.1_Missense_Mutation_p.M1204I|SLC4A2_uc003wiu.3_Missense_Mutation_p.M1199I|SLC4A2_uc003wiv.3_Missense_Mutation_p.M407I	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1213	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)						2				0.134328	36.873083	62.959082	27	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150773267	150773267	15151	7	G	A	A	A	585	45	SLC4A2	2	2
TWISTNB	221830	broad.mit.edu	37	7	19738143	19738143	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19738143C>A	uc003sup.1	-	c.813G>T	c.(811-813)TGG>TGT	p.W271C		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	271	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1														0.238727	391.543897	438.644384	180	574	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19738143	19738143	17340	7	C	A	A	A	286	22	TWISTNB	2	2
NPC1L1	29881	broad.mit.edu	37	7	44553237	44553237	+	Missense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44553237T>A	uc003tlb.2	-	c.3889A>T	c.(3889-3891)AAC>TAC	p.N1297Y	NPC1L1_uc003tlc.2_Missense_Mutation_p.N1270Y|NPC1L1_uc011kbw.1_Missense_Mutation_p.N1224Y|NPC1L1_uc003tla.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1297	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.245614	64.649785	71.365133	28	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44553237	44553237	10975	7	T	A	A	A	793	61	NPC1L1	3	3
RADIL	55698	broad.mit.edu	37	7	4874839	4874839	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4874839C>T	uc003snj.1	-	c.815G>A	c.(814-816)CGG>CAG	p.R272Q	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.R32Q|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	272					cell adhesion|multicellular organismal development|signal transduction		protein binding			central_nervous_system(2)|pancreas(2)|breast(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)										0.09375	1.30832	6.610747	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4874839	4874839	13457	7	C	T	T	T	299	23	RADIL	1	1
TNRC18	84629	broad.mit.edu	37	7	5391678	5391678	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5391678C>T	uc003soi.3	-	c.5242G>A	c.(5242-5244)GCC>ACC	p.A1748T	TNRC18_uc003soj.2_Missense_Mutation_p.A130T	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1748							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.36	23.266181	23.698265	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5391678	5391678	16880	7	C	T	T	T	351	27	TNRC18	1	1
ZNF479	90827	broad.mit.edu	37	7	57188140	57188140	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188140C>G	uc010kzo.2	-	c.982G>C	c.(982-984)GAG>CAG	p.E328Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	328	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.12	11.411944	18.496095	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188140	57188140	18527	7	C	G	G	G	377	29	ZNF479	3	3
KCTD7	154881	broad.mit.edu	37	7	66104162	66104162	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:66104162C>T	uc003tve.2	+	c.813C>T	c.(811-813)CTC>CTT	p.L271L	RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Silent_p.L271L	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	271						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3														0.131313	16.821421	29.892028	13	86	KEEP	---	---	---	---	capture		Silent	SNP	66104162	66104162	8420	7	C	T	T	T	392	31	KCTD7	1	1
ZDHHC4	55146	broad.mit.edu	37	7	6628266	6628266	+	Missense_Mutation	SNP	C	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6628266C>G	uc003sqi.2	+	c.760C>G	c.(760-762)CCA>GCA	p.P254A	ZDHHC4_uc003sql.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqh.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqj.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqk.2_Missense_Mutation_p.P254A|ZDHHC4_uc003sqm.2_Missense_Mutation_p.P254A|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	254						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)										0.137725	99.623559	142.015768	46	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6628266	6628266	18205	7	C	G	G	G	390	30	ZDHHC4	3	3
CLIP2	7461	broad.mit.edu	37	7	73768246	73768246	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73768246G>T	uc003uam.2	+	c.715G>T	c.(715-717)GGG>TGG	p.G239W	CLIP2_uc003uan.2_Missense_Mutation_p.G239W	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	239	CAP-Gly 2.					microtubule associated complex					0														0.098446	3.526211	34.681459	19	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73768246	73768246	3671	7	G	T	T	T	559	43	CLIP2	2	2
PCLO	27445	broad.mit.edu	37	7	82387923	82387923	+	Nonsense_Mutation	SNP	T	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82387923T>A	uc003uhx.2	-	c.15397A>T	c.(15397-15399)AAA>TAA	p.K5133*		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5056					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.130233	41.763314	70.355774	28	187	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82387923	82387923	12003	7	T	A	A	A	819	63	PCLO	5	3
PCLO	27445	broad.mit.edu	37	7	82784916	82784916	+	Silent	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82784916C>A	uc003uhx.2	-	c.1041G>T	c.(1039-1041)GGG>GGT	p.G347G	PCLO_uc003uhv.2_Silent_p.G347G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	320	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.122449	4.913873	11.758877	6	43	KEEP	---	---	---	---	capture		Silent	SNP	82784916	82784916	12003	7	C	A	A	A	379	30	PCLO	2	2
DLX6	1750	broad.mit.edu	37	7	96637044	96637044	+	Silent	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:96637044G>A	uc003uom.2	+	c.447G>A	c.(445-447)CTG>CTA	p.L149L	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	59	Homeobox.				nervous system development|regulation of transcription, DNA-dependent|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)													0.25	10.362775	11.501385	5	15	KEEP	---	---	---	---	capture		Silent	SNP	96637044	96637044	4755	7	G	A	A	A	587	46	DLX6	2	2
ABRA	137735	broad.mit.edu	37	8	107773333	107773333	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:107773333C>T	uc003ymm.3	-	c.1078G>A	c.(1078-1080)GTA>ATA	p.V360I		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	360	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)											0.16263	86.731759	118.009173	47	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107773333	107773333	101	8	C	T	T	T	234	18	ABRA	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110461710	110461710	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110461710A>G	uc003yne.2	+	c.6169A>G	c.(6169-6171)AAT>GAT	p.N2057D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2057	Extracellular (Potential).|IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.153846	5.541995	7.030613	2	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110461710	110461710	12397	8	A	G	G	G	169	13	PKHD1L1	4	4
OC90	729330	broad.mit.edu	37	8	133036873	133036873	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133036873T>C	uc003ytg.2	-	c.1289A>G	c.(1288-1290)CAC>CGC	p.H430R	OC90_uc011lix.1_Missense_Mutation_p.H430R	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	446					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)											0.407407	32.033573	32.231522	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133036873	133036873	11219	8	T	C	C	C	767	59	OC90	4	4
PLEC	5339	broad.mit.edu	37	8	144992968	144992968	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144992968C>T	uc003zaf.1	-	c.11432G>A	c.(11431-11433)CGT>CAT	p.R3811H	PLEC_uc003zab.1_Missense_Mutation_p.R3674H|PLEC_uc003zac.1_Missense_Mutation_p.R3678H|PLEC_uc003zad.2_Missense_Mutation_p.R3674H|PLEC_uc003zae.1_Missense_Mutation_p.R3642H|PLEC_uc003zag.1_Missense_Mutation_p.R3652H|PLEC_uc003zah.2_Missense_Mutation_p.R3660H|PLEC_uc003zaj.2_Missense_Mutation_p.R3701H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3811	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.117647	6.94779	16.733098	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144992968	144992968	12478	8	C	T	T	T	247	19	PLEC	1	1
PIWIL2	55124	broad.mit.edu	37	8	22147846	22147846	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22147846G>T	uc003xbn.2	+	c.1168G>T	c.(1168-1170)GTG>TTG	p.V390L	PIWIL2_uc011kzf.1_Missense_Mutation_p.V390L|PIWIL2_uc010ltv.2_Missense_Mutation_p.V390L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	390	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding				0				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)										0.162791	14.441641	19.053633	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22147846	22147846	12382	8	G	T	T	T	624	48	PIWIL2	2	2
EFCAB1	79645	broad.mit.edu	37	8	49647699	49647699	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:49647699C>T	uc003xqo.2	-	c.12G>A	c.(10-12)AAG>AAA	p.K4K	EFCAB1_uc003xqn.3_Non-coding_Transcript|EFCAB1_uc011ldj.1_Silent_p.K4K|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	4							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)												0.121387	24.829101	49.181774	21	152	KEEP	---	---	---	---	capture		Silent	SNP	49647699	49647699	5120	8	C	T	T	T	415	32	EFCAB1	2	2
GRIN3A	116443	broad.mit.edu	37	9	104499870	104499870	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104499870G>T	uc004bbp.1	-	c.392C>A	c.(391-393)GCC>GAC	p.A131D	GRIN3A_uc004bbq.1_Missense_Mutation_p.A131D	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	131	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				0.081633	-0.877485	7.803372	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104499870	104499870	7062	9	G	T	T	T	546	42	GRIN3A	2	2
SLC24A2	25769	broad.mit.edu	37	9	19786748	19786748	+	Silent	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19786748G>T	uc003zoa.1	-	c.117C>A	c.(115-117)GTC>GTA	p.V39V	SLC24A2_uc003zob.1_Silent_p.V39V	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	39					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)										0.209677	50.784134	60.459723	26	98	KEEP	---	---	---	---	capture		Silent	SNP	19786748	19786748	14963	9	G	T	T	T	418	33	SLC24A2	2	2
KIF24	347240	broad.mit.edu	37	9	34255858	34255858	+	Silent	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34255858T>C	uc003zua.3	-	c.3747A>G	c.(3745-3747)GAA>GAG	p.E1249E	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1249					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0			LUSC - Lung squamous cell carcinoma(29;0.0107)									OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.283582	62.000297	64.815927	19	48	KEEP	---	---	---	---	capture		Silent	SNP	34255858	34255858	8603	9	T	C	C	C	829	64	KIF24	4	4
GDA	9615	broad.mit.edu	37	9	74764526	74764526	+	Silent	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74764526C>T	uc004air.2	+	c.51C>T	c.(49-51)TTC>TTT	p.F17F	GDA_uc011lse.1_Intron|GDA_uc004aiq.2_Silent_p.F17F|GDA_uc011lsf.1_5'UTR|GDA_uc010mow.1_Non-coding_Transcript|GDA_uc004ais.2_5'UTR	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)										0.342105	33.660225	34.498798	13	25	KEEP	---	---	---	---	capture		Silent	SNP	74764526	74764526	6573	9	C	T	T	T	402	31	GDA	1	1
PCSK5	5125	broad.mit.edu	37	9	78506251	78506251	+	Missense_Mutation	SNP	C	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:78506251C>T	uc004ajz.2	+	c.154C>T	c.(154-156)CGT>TGT	p.R52C	PCSK5_uc004ajy.2_Missense_Mutation_p.R52C|PCSK5_uc004aka.2_Non-coding_Transcript	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	52					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3														0.114286	16.500163	37.036447	16	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78506251	78506251	12024	9	C	T	T	T	299	23	PCSK5	1	1
PCSK5	5125	broad.mit.edu	37	9	78686660	78686660	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:78686660G>A	uc004ajz.2	+	c.740G>A	c.(739-741)GGA>GAA	p.G247E	PCSK5_uc004ajy.2_Missense_Mutation_p.G247E|PCSK5_uc004aka.2_Non-coding_Transcript	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	247	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3														0.154762	66.969764	95.668136	39	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78686660	78686660	12024	9	G	A	A	A	533	41	PCSK5	2	2
PCSK5	5125	broad.mit.edu	37	9	78749075	78749075	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:78749075G>T	uc004ajz.2	+	c.1259G>T	c.(1258-1260)CGT>CTT	p.R420L	PCSK5_uc004ajy.2_Missense_Mutation_p.R420L|PCSK5_uc004aka.2_Intron	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	420	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3														0.202128	46.180153	53.922828	19	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78749075	78749075	12024	9	G	T	T	T	520	40	PCSK5	1	1
SECISBP2	79048	broad.mit.edu	37	9	91943573	91943573	+	Splice_Site_SNP	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91943573A>T	uc004aqj.1	+	c.575_splice	c.e5-2	p.D192_splice	SECISBP2_uc010mqn.1_Splice_Site_SNP_p.D192_splice|SECISBP2_uc004aqi.1_Splice_Site_SNP_p.D119_splice|SECISBP2_uc011ltk.1_Splice_Site_SNP_p.D191_splice|SECISBP2_uc004aqk.1_Splice_Site_SNP_p.D119_splice|SECISBP2_uc010mqo.1_Splice_Site_SNP|SECISBP2_uc011ltl.1_Splice_Site_SNP_p.D124_splice	NM_024077	NP_076982			SECIS binding protein 2						translation	nucleus	mRNA 3'-UTR binding			ovary(2)	2														0.112676	9.150861	19.664698	8	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	91943573	91943573	14492	9	A	T	T	T	91	7	SECISBP2	5	3
MCTS1	28985	broad.mit.edu	37	X	119739399	119739399	+	Missense_Mutation	SNP	T	C	C			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119739399T>C	uc011mub.1	+	c.152T>C	c.(151-153)GTC>GCC	p.V51A	MCTS1_uc004esx.2_Missense_Mutation_p.V50A	NM_001137554	NP_001131026	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 2	50					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0														0.190909	58.113282	67.931292	21	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119739399	119739399	9791	23	T	C	C	C	754	58	MCTS1	4	4
GRPR	2925	broad.mit.edu	37	X	16142311	16142311	+	Missense_Mutation	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16142311A>G	uc004cxj.2	+	c.235A>G	c.(235-237)ATT>GTT	p.I79V		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	79	Helical; Name=2; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)	3	Hepatocellular(33;0.183)											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.129707	52.864789	84.758817	31	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16142311	16142311	7087	23	A	G	G	G	104	8	GRPR	4	4
DCAF8L1	139425	broad.mit.edu	37	X	27998579	27998579	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998579C>A	uc004dbx.1	-	c.873G>T	c.(871-873)GAG>GAT	p.E291D		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	291	WD 3.									ovary(3)	3														0.156627	21.520131	30.863051	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27998579	27998579	4448	23	C	A	A	A	259	20	DCAF8L1	2	2
SSX3	10214	broad.mit.edu	37	X	48213500	48213500	+	Missense_Mutation	SNP	G	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48213500G>T	uc004djd.1	-	c.214C>A	c.(214-216)CGT>AGT	p.R72S	SSX3_uc004dje.2_Missense_Mutation_p.R72S|SSX3_uc010nic.2_Missense_Mutation_p.R72S	NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a	72	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						Colon(37;227 826 19399 40970 48007)								0.063492	-11.262027	26.228589	12	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48213500	48213500	15723	23	G	T	T	T	494	38	SSX3	1	1
IGBP1	3476	broad.mit.edu	37	X	69366622	69366622	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69366622A>T	uc004dxv.2	+	c.622A>T	c.(622-624)ATT>TTT	p.I208F	IGBP1_uc004dxw.2_Missense_Mutation_p.I208F	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	208					B cell activation|negative regulation of caspase activity|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						NSCLC(167;1189 1558 6576 8216 30387 37980 41450)								0.093023	9.771533	38.429681	16	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69366622	69366622	7868	23	A	T	T	T	156	12	IGBP1	3	3
DLG3	1741	broad.mit.edu	37	X	69720818	69720818	+	Missense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69720818G>A	uc004dyi.1	+	c.2326G>A	c.(2326-2328)GAA>AAA	p.E776K	DLG3_uc004dyj.1_Missense_Mutation_p.E471K|DLG3_uc011mpn.1_Missense_Mutation_p.E324K	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	776	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)													0.25	22.256051	24.302463	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69720818	69720818	4736	23	G	A	A	A	533	41	DLG3	2	2
GJB1	2705	broad.mit.edu	37	X	70443955	70443955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70443955G>A	uc004dzf.3	+	c.398G>A	c.(397-399)TGG>TAG	p.W133*	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Nonsense_Mutation_p.W133*	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	133	Helical; (Probable).		W -> R (in CMTX1).|W -> C (in CMTX1; moderate).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.W133*(1)		breast(1)	1	Renal(35;0.156)													0.084906	3.495629	22.021481	9	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70443955	70443955	6675	23	G	A	A	A	611	47	GJB1	5	2
ABCB7	22	broad.mit.edu	37	X	74295224	74295224	+	Silent	SNP	A	G	G			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74295224A>G	uc004ebz.2	-	c.831T>C	c.(829-831)TTT>TTC	p.F277F	ABCB7_uc004eca.2_Silent_p.F276F|ABCB7_uc011mqn.1_Silent_p.F250F|ABCB7_uc010nls.2_Silent_p.F237F|ABCB7_uc010nlt.2_Silent_p.F236F	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	276	ABC transmembrane type-1.|Helical; (Potential).			LLPIMF -> PLPNHV (in Ref. 4; AAC39865).	cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1														0.05625	-12.956655	20.158695	9	151	KEEP	---	---	---	---	capture		Silent	SNP	74295224	74295224	47	23	A	G	G	G	63	5	ABCB7	4	4
UPRT	139596	broad.mit.edu	37	X	74494131	74494131	+	Missense_Mutation	SNP	C	A	A			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74494131C>A	uc004ecb.1	+	c.42C>A	c.(40-42)CAC>CAA	p.H14Q	UPRT_uc010nlu.1_Missense_Mutation_p.H14Q|UPRT_uc004ecc.1_Non-coding_Transcript|UPRT_uc004ecd.1_Missense_Mutation_p.H14Q|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	14					nucleoside metabolic process	cytoplasm|nucleus					0														0.781955	350.268467	360.016247	104	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74494131	74494131	17575	23	C	A	A	A	220	17	UPRT	2	2
RPA4	29935	broad.mit.edu	37	X	96139803	96139803	+	Missense_Mutation	SNP	A	T	T			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:96139803A>T	uc004efv.3	+	c.494A>T	c.(493-495)CAC>CTC	p.H165L	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	165					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0														0.193548	41.29907	49.447421	18	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96139803	96139803	14018	23	A	T	T	T	78	6	RPA4	3	3
ZNF98	148198	broad.mit.edu	37	19	22575752	22575752	+	Frame_Shift_Del	DEL	C	-	-			TCGA-49-4507-01	TCGA-49-4507-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22575752_22575752delC	uc002nqt.2	-	c.285_285delG	c.(283-285)TGGfs	p.W95fs		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.33			6	12		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22575752	22575752	18807	19	C	-	-	-	338	26	ZNF98	5	5
