Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
C10orf79	80217	broad.mit.edu	37	10	105920842	105920842	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105920842C>G	uc001kxw.2	-	c.3493G>C	c.(3493-3495)GAG>CAG	p.E1165Q	C10orf79_uc009xxq.2_Missense_Mutation_p.E473Q	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1165	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)										0.054054	-8.143165	15.128564	6	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105920842	105920842	1655	10	C	G	G	G	377	29	C10orf79	3	3
TCF7L2	6934	broad.mit.edu	37	10	114925376	114925376	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114925376C>G	uc001lae.3	+	c.1454C>G	c.(1453-1455)TCA>TGA	p.S485*	TCF7L2_uc001lac.3_Nonsense_Mutation_p.S479*|TCF7L2_uc010qrk.1_Missense_Mutation_p.Q455E|TCF7L2_uc010qrl.1_Nonsense_Mutation_p.S462*|TCF7L2_uc010qrm.1_Missense_Mutation_p.Q461E|TCF7L2_uc010qrn.1_Missense_Mutation_p.Q404E|TCF7L2_uc001lad.3_Missense_Mutation_p.Q451E|TCF7L2_uc001lag.3_Missense_Mutation_p.Q485E|TCF7L2_uc001laf.3_Nonsense_Mutation_p.S462*|TCF7L2_uc010qro.1_Missense_Mutation_p.Q438E|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Nonsense_Mutation_p.S417*|TCF7L2_uc010qrs.1_Nonsense_Mutation_p.S373*|TCF7L2_uc010qrt.1_Nonsense_Mutation_p.S373*|TCF7L2_uc010qru.1_Missense_Mutation_p.Q377E|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	502	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|pancreas development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|promoter binding|protein kinase binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)										0.10687	14.34821	34.521476	14	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	114925376	114925376	16224	10	C	G	G	G	377	29	TCF7L2	5	3
FAM160B1	57700	broad.mit.edu	37	10	116621056	116621056	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116621056A>T	uc001lcb.2	+	c.2155A>T	c.(2155-2157)AGA>TGA	p.R719*	FAM160B1_uc001lcc.2_Nonsense_Mutation_p.R719*	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	719										lung(1)	1														0.130952	17.565163	28.689843	11	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	116621056	116621056	5674	10	A	T	T	T	88	7	FAM160B1	5	3
COL13A1	1305	broad.mit.edu	37	10	71712696	71712696	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71712696C>A	uc001jpr.1	+	c.2084C>A	c.(2083-2085)GCG>GAG	p.A695E	COL13A1_uc001jqj.1_Missense_Mutation_p.A668E|COL13A1_uc001jps.1_Missense_Mutation_p.A666E|COL13A1_uc001jpt.1_Missense_Mutation_p.A654E|COL13A1_uc001jpu.1_Missense_Mutation_p.A664E|COL13A1_uc001jpv.1_Missense_Mutation_p.A669E|COL13A1_uc001jpx.1_Missense_Mutation_p.A646E|COL13A1_uc001jpw.1_Missense_Mutation_p.A642E|COL13A1_uc001jpy.1_Missense_Mutation_p.A633E|COL13A1_uc001jpz.1_Missense_Mutation_p.A638E|COL13A1_uc001jqa.1_Missense_Mutation_p.A635E|COL13A1_uc001jqc.1_Missense_Mutation_p.A680E|COL13A1_uc001jqb.1_Intron|COL13A1_uc001jql.2_Missense_Mutation_p.A695E|COL13A1_uc001jqd.1_Missense_Mutation_p.A683E|COL13A1_uc001jqe.1_Missense_Mutation_p.A678E|COL13A1_uc001jqf.1_Missense_Mutation_p.A676E|COL13A1_uc001jqg.1_Missense_Mutation_p.A673E|COL13A1_uc001jqh.1_Missense_Mutation_p.A683E|COL13A1_uc001jqi.1_Missense_Mutation_p.A681E|COL13A1_uc010qjf.1_Missense_Mutation_p.A470E	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	695	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)									0.075758	-2.670055	9.506468	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71712696	71712696	3808	10	C	A	A	A	351	27	COL13A1	1	1
OPCML	4978	broad.mit.edu	37	11	132307151	132307151	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132307151G>C	uc010sck.1	-	c.629C>G	c.(628-630)GCG>GGG	p.A210G	OPCML_uc001qgu.2_Missense_Mutation_p.A203G|OPCML_uc001qgs.2_Missense_Mutation_p.A210G|OPCML_uc001qgt.2_Missense_Mutation_p.A209G|OPCML_uc010scl.1_Missense_Mutation_p.A169G	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	210	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)	2	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)										0.157143	20.95392	28.917663	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132307151	132307151	11280	11	G	C	C	C	494	38	OPCML	3	3
OR5D18	219438	broad.mit.edu	37	11	55587308	55587308	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587308C>A	uc010rin.1	+	c.203C>A	c.(202-204)TCC>TAC	p.S68Y		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.063559	-20.071644	26.805048	15	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55587308	55587308	11567	11	C	A	A	A	390	30	OR5D18	2	2
LRRC55	219527	broad.mit.edu	37	11	56949738	56949738	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56949738C>T	uc001njl.1	+	c.371C>T	c.(370-372)CCG>CTG	p.P124L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	94	LRR 1.					integral to membrane					0														0.105263	3.577997	9.458197	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56949738	56949738	9386	11	C	T	T	T	299	23	LRRC55	1	1
OR1S1	219959	broad.mit.edu	37	11	57983116	57983116	+	Silent	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57983116C>G	uc010rkc.1	+	c.900C>G	c.(898-900)CCC>CCG	p.P300P		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	300	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.070588	-2.921027	13.249454	6	79	KEEP	---	---	---	---	capture		Silent	SNP	57983116	57983116	11378	11	C	G	G	G	301	24	OR1S1	3	3
TRIM3	10612	broad.mit.edu	37	11	6472123	6472123	+	Silent	SNP	T	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6472123T>A	uc001mdh.2	-	c.1869A>T	c.(1867-1869)GCA>GCT	p.A623A	TRIM3_uc001mdi.2_Silent_p.A623A|TRIM3_uc010raj.1_Silent_p.A504A|TRIM3_uc009yfd.2_Silent_p.A623A|TRIM3_uc010rak.1_Silent_p.A623A	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	623	NHL 4.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(6;5 510 1540 25169 29084)								0.125	6.677319	11.073238	4	28	KEEP	---	---	---	---	capture		Silent	SNP	6472123	6472123	17048	11	T	A	A	A	704	55	TRIM3	3	3
TMEM126A	84233	broad.mit.edu	37	11	85367357	85367357	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85367357C>G	uc001par.2	+	c.400C>G	c.(400-402)CAA>GAA	p.Q134E		NM_032273	NP_115649	Q9H061	T126A_HUMAN	transmembrane protein 126A	134						integral to membrane|mitochondrion				ovary(2)	2		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.148148	17.46422	23.880463	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85367357	85367357	16569	11	C	G	G	G	377	29	TMEM126A	3	3
SELPLG	6404	broad.mit.edu	37	12	109017870	109017870	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109017870G>A	uc010sxe.1	-	c.262C>T	c.(262-264)CTG>TTG	p.L88L	SELPLG_uc001tnh.2_Silent_p.L72L|SELPLG_uc001tni.2_Silent_p.L72L	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	72	Extracellular (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0														0.16129	18.710829	25.478319	10	52	KEEP	---	---	---	---	capture		Silent	SNP	109017870	109017870	14506	12	G	A	A	A	425	33	SELPLG	2	2
ARPC3	10094	broad.mit.edu	37	12	110883275	110883275	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110883275C>A	uc001tqq.2	-	c.88G>T	c.(88-90)GGA>TGA	p.G30*		NM_005719	NP_005710	O15145	ARPC3_HUMAN	actin related protein 2/3 complex subunit 3	30					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			ovary(1)	1														0.116667	7.989024	16.657716	7	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110883275	110883275	990	12	C	A	A	A	312	24	ARPC3	5	2
NAA25	80018	broad.mit.edu	37	12	112525588	112525588	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112525588G>C	uc001ttm.2	-	c.301C>G	c.(301-303)CTT>GTT	p.L101V	NAA25_uc001ttn.3_Intron|NAA25_uc009zvz.1_Missense_Mutation_p.L73V|NAA25_uc009zwa.1_Missense_Mutation_p.L101V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	101	TPR 3.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3														0.144928	21.048511	29.380466	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112525588	112525588	10516	12	G	C	C	C	468	36	NAA25	3	3
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.3	15.440576	16.156386	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
TMEM117	84216	broad.mit.edu	37	12	44782164	44782164	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44782164G>A	uc001rod.2	+	c.1254G>A	c.(1252-1254)TTG>TTA	p.L418L	TMEM117_uc001roe.2_Silent_p.L314L|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	418						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.141509	24.45068	37.59311	15	91	KEEP	---	---	---	---	capture		Silent	SNP	44782164	44782164	16562	12	G	A	A	A	581	45	TMEM117	2	2
MLL2	8085	broad.mit.edu	37	12	49437156	49437156	+	Silent	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49437156G>C	uc001rta.3	-	c.5523C>G	c.(5521-5523)GCC>GCG	p.A1841A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1841					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29												OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.154589	56.488371	80.076916	32	175	KEEP	---	---	---	---	capture		Silent	SNP	49437156	49437156	10011	12	G	C	C	C	496	39	MLL2	3	3
SCN8A	6334	broad.mit.edu	37	12	52163071	52163071	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52163071C>T	uc001ryw.2	+	c.3324C>T	c.(3322-3324)CTC>CTT	p.L1108L	SCN8A_uc010snl.1_Silent_p.L973L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1108					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier|voltage-gated sodium channel complex	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)									0.095238	2.067186	8.974899	4	38	KEEP	---	---	---	---	capture		Silent	SNP	52163071	52163071	14406	12	C	T	T	T	366	29	SCN8A	2	2
OR6C3	254786	broad.mit.edu	37	12	55725897	55725897	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55725897G>T	uc010spj.1	+	c.413G>T	c.(412-414)TGC>TTC	p.C138F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.102941	16.314256	48.372506	21	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55725897	55725897	11602	12	G	T	T	T	598	46	OR6C3	2	2
PPM1H	57460	broad.mit.edu	37	12	63042360	63042360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63042360C>A	uc001srk.3	-	c.1454G>T	c.(1453-1455)AGA>ATA	p.R485I		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	485	PP2C-like.						phosphoprotein phosphatase activity			ovary(1)	1			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)										0.089286	-1.192734	8.466318	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63042360	63042360	12776	12	C	A	A	A	416	32	PPM1H	2	2
CEP290	80184	broad.mit.edu	37	12	88505592	88505592	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88505592A>T	uc001tar.2	-	c.2096T>A	c.(2095-2097)CTG>CAG	p.L699Q	CEP290_uc001tat.2_Missense_Mutation_p.L492Q|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	699	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.108108	4.771583	10.40541	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88505592	88505592	3386	12	A	T	T	T	91	7	CEP290	3	3
CDADC1	81602	broad.mit.edu	37	13	49841903	49841903	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49841903A>G	uc001vcu.2	+	c.708A>G	c.(706-708)ATA>ATG	p.I236M	CDADC1_uc001vcs.1_Non-coding_Transcript|CDADC1_uc001vct.1_Missense_Mutation_p.I118M|CDADC1_uc010tgk.1_Missense_Mutation_p.I38M|CDADC1_uc001vcv.2_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	236							hydrolase activity|zinc ion binding				0		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)										0.15625	11.255026	14.863333	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49841903	49841903	3181	13	A	G	G	G	163	13	CDADC1	4	4
OR4K14	122740	broad.mit.edu	37	14	20483244	20483244	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20483244C>A	uc010tky.1	-	c.109G>T	c.(109-111)GCC>TCC	p.A37S		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.066667	-2.378281	6.350191	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20483244	20483244	11479	14	C	A	A	A	338	26	OR4K14	2	2
FAM179B	23116	broad.mit.edu	37	14	45432036	45432036	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45432036C>T	uc001wvw.2	+	c.412C>T	c.(412-414)CGG>TGG	p.R138W	FAM179B_uc001wvv.2_Missense_Mutation_p.R138W|FAM179B_uc010anc.2_Non-coding_Transcript|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R138W|FAM179B_uc001wvu.2_Missense_Mutation_p.R138W	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	138							binding				0														0.092308	0.615545	11.527313	6	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45432036	45432036	5712	14	C	T	T	T	399	31	FAM179B	1	1
FBXO34	55030	broad.mit.edu	37	14	55819090	55819090	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55819090G>T	uc001xbu.2	+	c.1982G>T	c.(1981-1983)GGG>GTG	p.G661V	FBXO34_uc001xbv.2_Non-coding_Transcript|FBXO34_uc010aoo.2_Missense_Mutation_p.G661V	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	661										lung(2)|ovary(1)|skin(1)	4														0.105263	3.522669	12.342277	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55819090	55819090	5981	14	G	T	T	T	559	43	FBXO34	2	2
NDN	4692	broad.mit.edu	37	15	23931409	23931409	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23931409G>A	uc001ywk.2	-	c.956C>T	c.(955-957)TCT>TTT	p.S319F		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	319					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.060606	-4.456198	8.858546	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23931409	23931409	10646	15	G	A	A	A	429	33	NDN	2	2
RAD51	5888	broad.mit.edu	37	15	41011072	41011072	+	Missense_Mutation	SNP	G	C	C	rs77029343	byFrequency	TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41011072G>C	uc010bbx.2	+	c.508G>C	c.(508-510)GAA>CAA	p.E170Q	RAD51_uc001zmi.3_Missense_Mutation_p.E169Q|RAD51_uc010bbw.2_Missense_Mutation_p.E169Q|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Missense_Mutation_p.E170Q|RAD51_uc001zmn.1_Missense_Mutation_p.E86Q	NM_133487	NP_597994	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 2	169					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)						84				0.14	11.189796	17.453944	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41011072	41011072	13445	15	G	C	C	C	429	33	RAD51	3	3
ATP8B4	79895	broad.mit.edu	37	15	50154509	50154509	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50154509G>A	uc001zxu.2	-	c.3230C>T	c.(3229-3231)GCT>GTT	p.A1077V	ATP8B4_uc010ber.2_Missense_Mutation_p.A950V|ATP8B4_uc010ufd.1_Missense_Mutation_p.A887V|ATP8B4_uc010ufe.1_Non-coding_Transcript|ATP8B4_uc001zxt.2_Missense_Mutation_p.A80V	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1077	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.189189	15.202849	18.547045	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50154509	50154509	1216	15	G	A	A	A	442	34	ATP8B4	2	2
ATP8B4	79895	broad.mit.edu	37	15	50226286	50226286	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50226286C>A	uc001zxu.2	-	c.1381G>T	c.(1381-1383)GAT>TAT	p.D461Y	ATP8B4_uc010ber.2_Missense_Mutation_p.D334Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.D334Y|ATP8B4_uc010ufe.1_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	461	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.044444	-30.489075	19.424189	10	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50226286	50226286	1216	15	C	A	A	A	377	29	ATP8B4	2	2
RPS27L	51065	broad.mit.edu	37	15	63447831	63447831	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63447831C>T	uc002aly.2	-	c.215G>A	c.(214-216)AGA>AAA	p.R72K	RPS27L_uc002alx.2_Non-coding_Transcript	NM_015920	NP_057004	Q71UM5	RS27L_HUMAN	ribosomal protein S27-like	72					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity				0														0.074468	-1.353541	16.124305	7	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63447831	63447831	14120	15	C	T	T	T	416	32	RPS27L	2	2
DAPK2	23604	broad.mit.edu	37	15	64332369	64332369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64332369C>A	uc002amr.2	-	c.92G>T	c.(91-93)AGT>ATT	p.S31I	DAPK2_uc010uim.1_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.S21I	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	31	Protein kinase.|ATP (By similarity).				apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			central_nervous_system(1)	1				LUAD - Lung adenocarcinoma(2;0.215)						295				0.12987	10.288425	20.576755	10	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64332369	64332369	4403	15	C	A	A	A	312	24	DAPK2	2	2
UACA	55075	broad.mit.edu	37	15	70961491	70961491	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70961491C>T	uc002asr.2	-	c.1532G>A	c.(1531-1533)GGT>GAT	p.G511D	UACA_uc010uke.1_Missense_Mutation_p.G402D|UACA_uc002asq.2_Missense_Mutation_p.G498D|UACA_uc010bin.1_Missense_Mutation_p.G486D	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	511	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.132	47.305575	80.197332	33	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70961491	70961491	17381	15	C	T	T	T	234	18	UACA	2	2
ACAN	176	broad.mit.edu	37	15	89400400	89400400	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89400400C>T	uc010upo.1	+	c.4584C>T	c.(4582-4584)CTC>CTT	p.L1528L	ACAN_uc010upp.1_Silent_p.L1528L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.117647	4.377676	9.263283	4	30	KEEP	---	---	---	---	capture		Silent	SNP	89400400	89400400	118	15	C	T	T	T	379	30	ACAN	2	2
MCTP2	55784	broad.mit.edu	37	15	94942203	94942203	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:94942203A>T	uc002btj.2	+	c.1802A>T	c.(1801-1803)CAA>CTA	p.Q601L	MCTP2_uc010boj.2_Missense_Mutation_p.Q330L|MCTP2_uc010bok.2_Missense_Mutation_p.Q601L|MCTP2_uc002btk.3_Missense_Mutation_p.Q189L|MCTP2_uc002btl.2_Missense_Mutation_p.Q189L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	601					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)	2	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)											0.136842	21.615161	33.737867	13	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94942203	94942203	9790	15	A	T	T	T	65	5	MCTP2	3	3
SMG1	23049	broad.mit.edu	37	16	18883652	18883652	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18883652G>A	uc002dfm.2	-	c.2037C>T	c.(2035-2037)ATC>ATT	p.I679I	SMG1_uc010bwb.2_Silent_p.I539I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	679					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.107143	3.103261	7.391938	3	25	KEEP	---	---	---	---	capture		Silent	SNP	18883652	18883652	15293	16	G	A	A	A	421	33	SMG1	2	2
EARS2	124454	broad.mit.edu	37	16	23541066	23541066	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23541066T>A	uc002dlu.2	-	c.1220A>T	c.(1219-1221)CAG>CTG	p.Q407L	EARS2_uc002dlr.3_Non-coding_Transcript|EARS2_uc002dls.3_Non-coding_Transcript|EARS2_uc002dlt.3_Missense_Mutation_p.Q407L	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	407					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)									0.118421	13.221722	24.090087	9	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23541066	23541066	5064	16	T	A	A	A	715	55	EARS2	3	3
C16orf87	388272	broad.mit.edu	37	16	46858384	46858384	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46858384G>T	uc002eek.1	-	c.77C>A	c.(76-78)GCA>GAA	p.A26E		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	hypothetical protein LOC388272	26											0														0.130435	4.808041	7.864281	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46858384	46858384	1893	16	G	T	T	T	598	46	C16orf87	2	2
SNX20	124460	broad.mit.edu	37	16	50707574	50707574	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50707574C>A	uc002egk.2	-	c.694G>T	c.(694-696)GCC>TCC	p.A232S	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	232					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1														0.4	6.449399	6.493004	2	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50707574	50707574	15392	16	C	A	A	A	351	27	SNX20	1	1
CES1	1066	broad.mit.edu	37	16	55846924	55846924	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55846924C>G	uc002eil.2	-	c.977G>C	c.(976-978)GGG>GCG	p.G326A	CES1_uc010ccf.2_5'UTR|CES1_uc002eim.2_Missense_Mutation_p.G325A|CES1_uc002ein.2_Missense_Mutation_p.G325A	NM_001025195	NP_001020366	P23141	EST1_HUMAN	carboxylesterase 1 isoform a precursor	325					regulation of synaptic transmission|response to toxin	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	NSCLC(162;1801 2756 42904 52896)								0.065217	-1.809207	7.217067	3	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55846924	55846924	3402	16	C	G	G	G	286	22	CES1	3	3
POLR2C	5432	broad.mit.edu	37	16	57503186	57503186	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57503186A>G	uc002elt.1	+	c.368A>G	c.(367-369)AAC>AGC	p.N123S	POLR2C_uc010vhq.1_Missense_Mutation_p.N123S	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	123					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0														0.113924	11.133069	22.732209	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57503186	57503186	12644	16	A	G	G	G	26	2	POLR2C	4	4
MYH4	4622	broad.mit.edu	37	17	10356999	10356999	+	Silent	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10356999C>A	uc002gmn.2	-	c.2895G>T	c.(2893-2895)CTG>CTT	p.L965L		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	965	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.074534	-3.53503	26.392823	12	149	KEEP	---	---	---	---	capture		Silent	SNP	10356999	10356999	10432	17	C	A	A	A	262	21	MYH4	2	2
C17orf37	84299	broad.mit.edu	37	17	37885794	37885794	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37885794G>A	uc002hsq.2	-	c.329C>T	c.(328-330)CCT>CTT	p.P110L		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	110					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)							36				0.082353	3.512039	33.594304	14	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37885794	37885794	1910	17	G	A	A	A	455	35	C17orf37	2	2
PITPNC1	26207	broad.mit.edu	37	17	65665757	65665757	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65665757G>A	uc002jgc.2	+	c.596G>A	c.(595-597)AGA>AAA	p.R199K	PITPNC1_uc002jgb.2_Missense_Mutation_p.R199K	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	199					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)											0.1875	6.714901	8.178435	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65665757	65665757	12373	17	G	A	A	A	429	33	PITPNC1	2	2
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578212G>A	uc002gim.2	-	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R213*(178)|p.0?(6)|p.R213fs*34(3)|p.R213G(2)|p.D208fs*1(1)|p.R213fs*2(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R213fs*32(1)|p.R213*33(1)|p.R213R(1)|p.R209fs*6(1)|p.R213W(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R213*(TE14-Tumor)|p.R213*(HEC251-Tumor)|p.R213*(DMS114-Tumor)|p.R213*(MOLT13-Tumor)|p.R213*(SUPT11-Tumor)|p.R213*(TC71-Tumor)|p.R213*(SNU81-Tumor)|p.R213*(IPC298-Tumor)|p.R213*(RERFGC1B-Tumor)|p.R213*(JHOM1-Tumor)|p.R213*(ESS1-Tumor)|p.R213*(HT115-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.115385	6.015211	13.592082	6	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7578212	7578212	16923	17	G	A	A	A	480	37	TP53	5	1
DNAH2	146754	broad.mit.edu	37	17	7719956	7719956	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7719956G>T	uc002giu.1	+	c.9797G>T	c.(9796-9798)CGC>CTC	p.R3266L	DNAH2_uc010cnm.1_Missense_Mutation_p.R204L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3266	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.092827	11.515653	51.01266	22	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7719956	7719956	4785	17	G	T	T	T	494	38	DNAH2	1	1
ROCK1	6093	broad.mit.edu	37	18	18690844	18690844	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:18690844G>A	uc002kte.2	-	c.28C>T	c.(28-30)CGA>TGA	p.R10*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	10					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)								p.R10*(CALU6-Tumor)	408				0.12	11.174886	21.755099	9	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18690844	18690844	13996	18	G	A	A	A	480	37	ROCK1	5	1
SETBP1	26040	broad.mit.edu	37	18	42530630	42530630	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42530630C>G	uc010dni.2	+	c.1325C>G	c.(1324-1326)ACC>AGC	p.T442S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	442						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.070866	-5.14746	18.90477	9	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42530630	42530630	14617	18	C	G	G	G	234	18	SETBP1	3	3
COL5A3	50509	broad.mit.edu	37	19	10079106	10079106	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10079106C>T	uc002mmq.1	-	c.4269G>A	c.(4267-4269)CAG>CAA	p.Q1423Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1423	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.06383	-2.910618	6.390294	3	44	KEEP	---	---	---	---	capture		Silent	SNP	10079106	10079106	3836	19	C	T	T	T	311	24	COL5A3	2	2
COL5A3	50509	broad.mit.edu	37	19	10079135	10079135	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10079135G>T	uc002mmq.1	-	c.4240C>A	c.(4240-4242)CCG>ACG	p.P1414T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.075	-0.987409	6.409362	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10079135	10079135	3836	19	G	T	T	T	559	43	COL5A3	2	2
ZNF599	148103	broad.mit.edu	37	19	35251308	35251308	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35251308C>T	uc010edn.1	-	c.398G>A	c.(397-399)GGG>GAG	p.G133E	ZNF599_uc010edm.1_Missense_Mutation_p.G96E	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)											0.081081	1.833345	15.025677	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35251308	35251308	18624	19	C	T	T	T	286	22	ZNF599	2	2
NPHS1	4868	broad.mit.edu	37	19	36334405	36334405	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36334405A>T	uc002oby.2	-	c.2303T>A	c.(2302-2304)ATC>AAC	p.I768N		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	768	Ig-like C2-type 7.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.116279	15.978331	34.641609	15	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36334405	36334405	10986	19	A	T	T	T	156	12	NPHS1	3	3
NFKBID	84807	broad.mit.edu	37	19	36381356	36381356	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36381356C>A	uc002ocj.1	-	c.688G>T	c.(688-690)GTG>TTG	p.V230L	NFKBID_uc002och.1_Missense_Mutation_p.V52L|NFKBID_uc002oci.1_Missense_Mutation_p.V215L	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	215	ANK 5.				inflammatory response	nucleus					0														0.056604	-8.012624	13.855141	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36381356	36381356	10779	19	C	A	A	A	247	19	NFKBID	1	1
VASP	7408	broad.mit.edu	37	19	46027906	46027906	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46027906G>C	uc002pcg.2	+	c.1035G>C	c.(1033-1035)CAG>CAC	p.Q345H	VASP_uc010eki.2_Missense_Mutation_p.Q179H|VASP_uc002pci.2_Missense_Mutation_p.Q331H	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	345	1.|2 X 15 AA tandem repeats of L-[EQ]-[KR]- [MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]- [KRV]-[KQ]-E.|Potential.|EVH2.|EVH2 block C.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)										0.117647	12.049252	21.82317	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46027906	46027906	17693	19	G	C	C	C	425	33	VASP	3	3
SYMPK	8189	broad.mit.edu	37	19	46351054	46351054	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46351054A>C	uc002pdn.2	-	c.632T>G	c.(631-633)ATC>AGC	p.I211S	SYMPK_uc002pdo.1_Missense_Mutation_p.I211S|SYMPK_uc002pdp.1_Missense_Mutation_p.I211S|SYMPK_uc002pdq.1_Missense_Mutation_p.I211S	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	211					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)										0.162162	12.333556	16.344064	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46351054	46351054	15960	19	A	C	C	C	156	12	SYMPK	4	4
MUC16	94025	broad.mit.edu	37	19	9074052	9074052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9074052G>T	uc002mkp.2	-	c.13394C>A	c.(13393-13395)CCT>CAT	p.P4465H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4467	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														0.078571	-0.958908	24.332683	11	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9074052	9074052	10367	19	G	T	T	T	455	35	MUC16	2	2
FAM40A	85369	broad.mit.edu	37	1	110594385	110594385	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110594385G>A	uc001dza.1	+	c.2142G>A	c.(2140-2142)CTG>CTA	p.L714L	FAM40A_uc001dyz.1_Silent_p.L619L|FAM40A_uc009wfp.1_Silent_p.L538L	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	714						nucleus	protein binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)										0.150943	12.963148	19.152549	8	45	KEEP	---	---	---	---	capture		Silent	SNP	110594385	110594385	5781	1	G	A	A	A	574	45	FAM40A	2	2
TTF2	8458	broad.mit.edu	37	1	117618261	117618261	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117618261A>G	uc001egy.2	+	c.1055A>G	c.(1054-1056)GAC>GGC	p.D352G	TTF2_uc001egx.1_Missense_Mutation_p.D352G	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	352					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)										0.096774	2.502316	7.552323	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117618261	117618261	17274	1	A	G	G	G	130	10	TTF2	4	4
RHBG	57127	broad.mit.edu	37	1	156347138	156347138	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156347138C>T	uc010pho.1	+	c.234C>T	c.(232-234)CTC>CTT	p.L78L	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.2_Silent_p.L9L|RHBG_uc009wrz.2_Silent_p.L9L|RHBG_uc001for.2_Silent_p.L48L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	78	Helical; (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)													0.078125	-1.553508	21.739884	10	118	KEEP	---	---	---	---	capture		Silent	SNP	156347138	156347138	13799	1	C	T	T	T	366	29	RHBG	2	2
F5	2153	broad.mit.edu	37	1	169526045	169526046	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169526045_169526046GG>TT	uc001ggg.1	-	c.790_791CC>AA	c.(790-792)CCA>AAA	p.P264K	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	264	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)									0.313725	46.480828	48.056009	16	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	169526045	169526046	5542	1	GG	TT	TT	TT	611	47	F5	2	2
RFWD2	64326	broad.mit.edu	37	1	175956199	175956199	+	Silent	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175956199A>T	uc001gku.1	-	c.2013T>A	c.(2011-2013)CTT>CTA	p.L671L	RFWD2_uc001gkv.1_Silent_p.L647L|RFWD2_uc001gkw.1_Silent_p.L431L|RFWD2_uc009wwv.2_Silent_p.L470L|RFWD2_uc001gkt.1_Silent_p.L510L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	671	WD 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(134;1413 1765 5706 35534 51541)								0.103896	4.141326	16.173955	8	69	KEEP	---	---	---	---	capture		Silent	SNP	175956199	175956199	13732	1	A	T	T	T	2	1	RFWD2	3	3
CFHR1	3078	broad.mit.edu	37	1	196796071	196796071	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196796071C>T	uc001gtn.2	+	c.366C>T	c.(364-366)AAC>AAT	p.N122N	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	122	Sushi 2.				complement activation	extracellular space					0														0.098214	2.633159	20.78494	11	101	KEEP	---	---	---	---	capture		Silent	SNP	196796071	196796071	3417	1	C	T	T	T	220	17	CFHR1	2	2
KIF21B	23046	broad.mit.edu	37	1	200971448	200971448	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200971448C>A	uc001gvs.1	-	c.1243G>T	c.(1243-1245)GAG>TAG	p.E415*	KIF21B_uc001gvr.1_Nonsense_Mutation_p.E415*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.E415*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.E415*|KIF21B_uc001gvt.1_3'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	415	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.150685	18.291829	26.816316	11	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	200971448	200971448	8600	1	C	A	A	A	377	29	KIF21B	5	2
PFKFB2	5208	broad.mit.edu	37	1	207235398	207235398	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207235398C>T	uc001hfg.2	+	c.186C>T	c.(184-186)CTC>CTT	p.L62L	PFKFB2_uc010psc.1_5'UTR|PFKFB2_uc001hfh.2_Silent_p.L62L|PFKFB2_uc009xcc.2_Silent_p.L20L|PFKFB2_uc010psd.1_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	62	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)													0.081633	-0.040899	8.694986	4	45	KEEP	---	---	---	---	capture		Silent	SNP	207235398	207235398	12183	1	C	T	T	T	366	29	PFKFB2	2	2
EPRS	2058	broad.mit.edu	37	1	220154722	220154722	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220154722C>A	uc001hly.1	-	c.3451G>T	c.(3451-3453)GTG>TTG	p.V1151L		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1151	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.068966	-2.909366	13.786047	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220154722	220154722	5384	1	C	A	A	A	234	18	EPRS	2	2
ABCB10	23456	broad.mit.edu	37	1	229685163	229685163	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229685163G>C	uc001htp.3	-	c.536C>G	c.(535-537)ACG>AGG	p.T179R		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	179	Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Helical; (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)												0.163636	19.301198	25.163581	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229685163	229685163	42	1	G	C	C	C	520	40	ABCB10	3	3
PCNXL2	80003	broad.mit.edu	37	1	233296031	233296031	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233296031C>G	uc001hvl.2	-	c.3515G>C	c.(3514-3516)AGA>ACA	p.R1172T	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.2_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1172						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.314286	33.011201	34.085944	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233296031	233296031	12012	1	C	G	G	G	416	32	PCNXL2	3	3
LYST	1130	broad.mit.edu	37	1	235970013	235970013	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235970013C>T	uc001hxj.2	-	c.2423G>A	c.(2422-2424)TGC>TAC	p.C808Y	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.C808Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	808					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.074627	-3.799648	8.743809	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235970013	235970013	9505	1	C	T	T	T	325	25	LYST	2	2
RYR2	6262	broad.mit.edu	37	1	237608811	237608811	+	Silent	SNP	T	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237608811T>C	uc001hyl.1	+	c.1281T>C	c.(1279-1281)AAT>AAC	p.N427N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	427	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.165289	46.131011	58.987069	20	101	KEEP	---	---	---	---	capture		Silent	SNP	237608811	237608811	14249	1	T	C	C	C	634	49	RYR2	4	4
ZNF496	84838	broad.mit.edu	37	1	247464457	247464457	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247464457C>T	uc009xgv.2	-	c.1236G>A	c.(1234-1236)GGG>GGA	p.G412G	ZNF496_uc001ico.2_Silent_p.G376G|ZNF496_uc001icp.2_Silent_p.G376G	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	376					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)											0.5	12.300251	12.300251	4	4	KEEP	---	---	---	---	capture		Silent	SNP	247464457	247464457	18539	1	C	T	T	T	379	30	ZNF496	2	2
OR2W5	441932	broad.mit.edu	37	1	247655069	247655069	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247655069C>T	uc001icz.1	+	c.640C>T	c.(640-642)CAT>TAT	p.H214Y		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.080357	-0.995927	19.104465	9	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247655069	247655069	11440	1	C	T	T	T	377	29	OR2W5	2	2
OR2C3	81472	broad.mit.edu	37	1	247695110	247695110	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695110C>A	uc009xgy.2	-	c.704G>T	c.(703-705)CGG>CTG	p.R235L	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.11828	14.818123	28.079911	11	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695110	247695110	11399	1	C	A	A	A	299	23	OR2C3	1	1
OR2T8	343172	broad.mit.edu	37	1	248084349	248084349	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248084349C>T	uc010pzc.1	+	c.30C>T	c.(28-30)TTC>TTT	p.F10F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.103093	8.690288	23.899358	10	87	KEEP	---	---	---	---	capture		Silent	SNP	248084349	248084349	11436	1	C	T	T	T	376	29	OR2T8	2	2
LEPRE1	64175	broad.mit.edu	37	1	43221286	43221286	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43221286C>T	uc001chx.3	-	c.1103G>A	c.(1102-1104)CGA>CAA	p.R368Q	LEPRE1_uc001chv.2_Missense_Mutation_p.R368Q|LEPRE1_uc001chw.2_Missense_Mutation_p.R368Q	NM_001146289	NP_001139761	Q32P28	P3H1_HUMAN	leprecan 1 isoform 2	368					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.082474	0.736429	17.928115	8	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43221286	43221286	9053	1	C	T	T	T	403	31	LEPRE1	1	1
PDE4B	5142	broad.mit.edu	37	1	66713200	66713200	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66713200C>G	uc001dcn.2	+	c.339C>G	c.(337-339)AGC>AGG	p.S113R	PDE4B_uc009war.2_Missense_Mutation_p.S21R|PDE4B_uc001dco.2_Missense_Mutation_p.S113R|PDE4B_uc001dcp.2_Missense_Mutation_p.S98R	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	113					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)									0.072848	-6.462045	50.197238	22	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66713200	66713200	12061	1	C	G	G	G	363	28	PDE4B	3	3
BTBD3	22903	broad.mit.edu	37	20	11900471	11900471	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:11900471C>T	uc002wnz.2	+	c.523C>T	c.(523-525)CTC>TTC	p.L175F	BTBD3_uc002wny.2_Missense_Mutation_p.L114F|BTBD3_uc002woa.2_Missense_Mutation_p.L114F|BTBD3_uc010zrf.1_Missense_Mutation_p.L24F|BTBD3_uc010zrg.1_Missense_Mutation_p.L24F|BTBD3_uc010zrh.1_Missense_Mutation_p.L24F	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	175	BTB.									ovary(2)|central_nervous_system(1)	3														0.15625	20.806417	28.026401	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11900471	11900471	1578	20	C	T	T	T	416	32	BTBD3	2	2
FAM113A	64773	broad.mit.edu	37	20	2816935	2816935	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2816935C>A	uc002wgz.1	-	c.867G>T	c.(865-867)GAG>GAT	p.E289D	FAM113A_uc002whb.1_Missense_Mutation_p.E140D|FAM113A_uc002wha.1_Missense_Mutation_p.E140D|FAM113A_uc010zqa.1_Missense_Mutation_p.E136D|FAM113A_uc002whc.1_Missense_Mutation_p.E238D	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	289							hydrolase activity|protein binding			ovary(2)	2														0.125	12.928764	26.129496	12	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2816935	2816935	5598	20	C	A	A	A	415	32	FAM113A	2	2
DNMT3B	1789	broad.mit.edu	37	20	31376692	31376692	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31376692G>T	uc002wyc.2	+	c.687G>T	c.(685-687)GTG>GTT	p.V229V	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.2_Silent_p.V229V|DNMT3B_uc002wye.2_Silent_p.V229V|DNMT3B_uc010gee.2_Non-coding_Transcript|DNMT3B_uc010gef.2_Non-coding_Transcript|DNMT3B_uc010ztz.1_Silent_p.V187V|DNMT3B_uc010zua.1_Silent_p.V153V|DNMT3B_uc002wyf.2_Silent_p.V241V|DNMT3B_uc002wyg.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	229	PWWP.|Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		protein binding|transcription corepressor activity|zinc ion binding			ovary(2)|lung(1)	3										1211				0.098592	6.070794	17.514531	7	64	KEEP	---	---	---	---	capture		Silent	SNP	31376692	31376692	4860	20	G	T	T	T	613	48	DNMT3B	2	2
UQCC	55245	broad.mit.edu	37	20	33969780	33969780	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33969780C>T	uc002xcd.2	-	c.274G>A	c.(274-276)GCT>ACT	p.A92T	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.A92T|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.A92T|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.A46T|UQCC_uc010gfd.1_Missense_Mutation_p.A78T	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	92						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.08427	-1.075113	30.045339	15	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33969780	33969780	17576	20	C	T	T	T	325	25	UQCC	2	2
KCNG1	3755	broad.mit.edu	37	20	49620825	49620825	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49620825G>T	uc002xwa.3	-	c.1293C>A	c.(1291-1293)GTC>GTA	p.V431V		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	431						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.072289	-7.215773	8.462081	6	77	KEEP	---	---	---	---	capture		Silent	SNP	49620825	49620825	8332	20	G	T	T	T	522	41	KCNG1	2	2
GATA5	140628	broad.mit.edu	37	20	61039976	61039976	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61039976G>T	uc002ycx.1	-	c.1110C>A	c.(1108-1110)GCC>GCA	p.A370A		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	370					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	promoter binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)											0.307692	9.89512	10.323754	4	9	KEEP	---	---	---	---	capture		Silent	SNP	61039976	61039976	6521	20	G	T	T	T	444	35	GATA5	2	2
CSTB	1476	broad.mit.edu	37	21	45194582	45194582	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45194582G>A	uc002zdr.2	-	c.125C>T	c.(124-126)TCA>TTA	p.S42L		NM_000100	NP_000091	P04080	CYTB_HUMAN	cystatin B	42						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding				0				STAD - Stomach adenocarcinoma(101;0.168)		Esophageal Squamous(58;831 1093 17019 29789 35147)								0.15	8.219436	12.924338	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45194582	45194582	4123	21	G	A	A	A	585	45	CSTB	2	2
UFD1L	7353	broad.mit.edu	37	22	19463058	19463058	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19463058C>T	uc011agy.1	-	c.71G>A	c.(70-72)CGC>CAC	p.R24H	UFD1L_uc002zpm.2_Missense_Mutation_p.R24H|UFD1L_uc002zpo.2_Missense_Mutation_p.R24H|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR	NM_001035247	NP_001030324	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform B	24					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)													0.111111	7.221091	19.333173	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19463058	19463058	17493	22	C	T	T	T	351	27	UFD1L	1	1
SF3A1	10291	broad.mit.edu	37	22	30741134	30741134	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30741134G>A	uc003ahl.2	-	c.439C>T	c.(439-441)CCT>TCT	p.P147S		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	147					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5														0.067308	-7.230324	12.921881	7	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30741134	30741134	14635	22	G	A	A	A	533	41	SF3A1	2	2
SEC14L3	266629	broad.mit.edu	37	22	30857437	30857437	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30857437A>G	uc003ahy.2	-	c.941T>C	c.(940-942)ATC>ACC	p.I314T	SEC14L3_uc003ahz.2_Missense_Mutation_p.I237T|SEC14L3_uc003aia.2_Missense_Mutation_p.I255T|SEC14L3_uc003aib.2_Missense_Mutation_p.I255T	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	314	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	Esophageal Squamous(108;290 1516 3584 23771 37333)								0.078431	-0.63854	8.623311	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30857437	30857437	14469	22	A	G	G	G	156	12	SEC14L3	4	4
TTC38	55020	broad.mit.edu	37	22	46685772	46685772	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46685772C>T	uc003bhi.2	+	c.1292C>T	c.(1291-1293)TCC>TTC	p.S431F	TTC38_uc011aqx.1_Missense_Mutation_p.S373F	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	431							binding			ovary(1)	1														0.142857	5.140045	9.471472	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46685772	46685772	17261	22	C	T	T	T	390	30	TTC38	2	2
IL1RL1	9173	broad.mit.edu	37	2	102957269	102957269	+	Silent	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102957269C>A	uc002tbu.1	+	c.591C>A	c.(589-591)ACC>ACA	p.T197T	IL1RL1_uc010ywa.1_Silent_p.T80T|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Silent_p.T197T	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	197	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			ovary(1)|central_nervous_system(1)|skin(1)	3														0.055556	-10.106857	12.309636	6	102	KEEP	---	---	---	---	capture		Silent	SNP	102957269	102957269	7964	2	C	A	A	A	262	21	IL1RL1	2	2
SH3RF3	344558	broad.mit.edu	37	2	110015211	110015211	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:110015211G>A	uc010ywt.1	+	c.1111G>A	c.(1111-1113)GAT>AAT	p.D371N		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	371							zinc ion binding			ovary(1)	1														0.166667	6.781845	9.316648	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110015211	110015211	14752	2	G	A	A	A	533	41	SH3RF3	2	2
MGAT5	4249	broad.mit.edu	37	2	135107435	135107435	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135107435A>G	uc002ttv.1	+	c.1172A>G	c.(1171-1173)TAT>TGT	p.Y391C		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	391	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0964)										0.063953	-8.518524	25.547454	11	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135107435	135107435	9938	2	A	G	G	G	208	16	MGAT5	4	4
XIRP2	129446	broad.mit.edu	37	2	168105791	168105791	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168105791C>G	uc002udx.2	+	c.7889C>G	c.(7888-7890)TCC>TGC	p.S2630C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2455C|XIRP2_uc010fpq.2_Missense_Mutation_p.S2408C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2455					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.075	-1.630541	28.027361	12	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168105791	168105791	18011	2	C	G	G	G	390	30	XIRP2	3	3
SGOL2	151246	broad.mit.edu	37	2	201435837	201435837	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201435837G>C	uc002uvw.2	+	c.768G>C	c.(766-768)CAG>CAC	p.Q256H	SGOL2_uc010zhd.1_Missense_Mutation_p.Q256H|SGOL2_uc010zhe.1_Missense_Mutation_p.Q256H	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	256					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)	2														0.063492	-2.651287	9.840637	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201435837	201435837	14708	2	G	C	C	C	464	36	SGOL2	3	3
KLF7	8609	broad.mit.edu	37	2	207953272	207953272	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207953272C>A	uc002vbz.1	-	c.767G>T	c.(766-768)TGT>TTT	p.C256F	KLF7_uc002vca.1_Missense_Mutation_p.V189L|KLF7_uc010zix.1_Missense_Mutation_p.C228F	NM_003709	NP_003700	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	256	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding				0				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)										0.046875	-16.960685	11.064522	6	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207953272	207953272	8663	2	C	A	A	A	221	17	KLF7	2	2
EPHA4	2043	broad.mit.edu	37	2	222428866	222428866	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:222428866G>T	uc002vmq.2	-	c.408C>A	c.(406-408)TTC>TTA	p.F136L	EPHA4_uc002vmr.2_Missense_Mutation_p.F136L|EPHA4_uc010zlm.1_Missense_Mutation_p.F77L|EPHA4_uc010zln.1_Missense_Mutation_p.F136L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	136	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)						395				0.121951	11.389055	22.87235	10	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222428866	222428866	5362	2	G	T	T	T	581	45	EPHA4	2	2
COL6A3	1293	broad.mit.edu	37	2	238277341	238277341	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238277341C>G	uc002vwl.2	-	c.4765G>C	c.(4765-4767)GAC>CAC	p.D1589H	COL6A3_uc002vwo.2_Missense_Mutation_p.D1383H|COL6A3_uc010znj.1_Missense_Mutation_p.D982H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1589	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.070755	-2.945179	37.333343	15	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238277341	238277341	3839	2	C	G	G	G	377	29	COL6A3	3	3
HADHB	3032	broad.mit.edu	37	2	26486289	26486289	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26486289A>T	uc002rgz.2	+	c.151A>T	c.(151-153)ATA>TTA	p.I51L	HADHB_uc010yku.1_Non-coding_Transcript|HADHB_uc010ykv.1_Missense_Mutation_p.I29L|HADHB_uc010ykw.1_Missense_Mutation_p.I51L|HADHB_uc002rha.2_Missense_Mutation_p.I51L	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	51					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.164384	22.653995	30.464451	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26486289	26486289	7226	2	A	T	T	T	208	16	HADHB	3	3
PRKD3	23683	broad.mit.edu	37	2	37516584	37516584	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37516584C>T	uc002rqd.2	-	c.632G>A	c.(631-633)CGT>CAT	p.R211H	PRKD3_uc002rqf.1_Missense_Mutation_p.R211H	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	211					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|protein phosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				Melanoma(80;621 1355 8613 11814 51767)				569				0.093023	2.170848	9.331888	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37516584	37516584	12963	2	C	T	T	T	247	19	PRKD3	1	1
SMEK2	57223	broad.mit.edu	37	2	55792108	55792108	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55792108C>T	uc002rzc.2	-	c.2005G>A	c.(2005-2007)GTT>ATT	p.V669I	SMEK2_uc002rzb.2_Missense_Mutation_p.V584I|SMEK2_uc002rzd.2_Missense_Mutation_p.V637I|SMEK2_uc002ryz.2_Missense_Mutation_p.V103I|SMEK2_uc002rza.2_Missense_Mutation_p.V460I	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	669						microtubule organizing center|nucleus	protein binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)											0.1	2.200773	6.997416	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55792108	55792108	15292	2	C	T	T	T	221	17	SMEK2	2	2
OTX1	5013	broad.mit.edu	37	2	63282636	63282636	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:63282636G>T	uc002scd.2	+	c.250G>T	c.(250-252)GTC>TTC	p.V84F	OTX1_uc010ypt.1_Missense_Mutation_p.V18F	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	84	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)													0.111111	2.725781	6.745493	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63282636	63282636	11733	2	G	T	T	T	572	44	OTX1	2	2
CCT7	10574	broad.mit.edu	37	2	73471671	73471671	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73471671G>A	uc002siz.2	+	c.447_splice	c.e6-1	p.V149_splice	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Splice_Site_SNP_p.V105_splice|CCT7_uc010feu.2_Splice_Site_SNP_p.V107_splice|CCT7_uc010yrg.1_Splice_Site_SNP_p.V49_splice|CCT7_uc010yrh.1_Splice_Site_SNP_p.W21_splice|CCT7_uc010yri.1_Splice_Site_SNP_p.V62_splice	NM_006429	NP_006420			chaperonin containing TCP1, subunit 7 isoform a						'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0														0.069767	-1.309987	6.908048	3	40	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	73471671	73471671	3086	2	G	A	A	A	455	35	CCT7	5	2
SFTPB	6439	broad.mit.edu	37	2	85893804	85893804	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85893804G>A	uc002sqi.2	-	c.365C>T	c.(364-366)CCC>CTC	p.P122L	SFTPB_uc002sqh.2_Missense_Mutation_p.P110L|SFTPB_uc002sqj.2_Missense_Mutation_p.P110L	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	110	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2														0.063218	-11.858386	22.572074	11	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85893804	85893804	14682	2	G	A	A	A	559	43	SFTPB	2	2
ATG3	64422	broad.mit.edu	37	3	112255402	112255402	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112255402C>A	uc003dzd.2	-	c.714G>T	c.(712-714)CAG>CAT	p.Q238H	ATG3_uc003dzc.2_Missense_Mutation_p.Q238H|ATG3_uc010hqe.2_Missense_Mutation_p.Q238H	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Apg3p	238					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			ovary(3)	3														0.138462	13.029714	21.245724	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112255402	112255402	1114	3	C	A	A	A	311	24	ATG3	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119133503	119133503	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119133503G>T	uc003ecj.3	+	c.2727G>T	c.(2725-2727)GAG>GAT	p.E909D		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	909					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.104116	29.62799	94.045833	43	370	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119133503	119133503	892	3	G	T	T	T	451	35	ARHGAP31	2	2
ADPRH	141	broad.mit.edu	37	3	119305362	119305362	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119305362C>A	uc003ecs.2	+	c.529C>A	c.(529-531)CTT>ATT	p.L177I	ADPRH_uc010hqv.2_Missense_Mutation_p.L177I|ADPRH_uc011bjb.1_Missense_Mutation_p.L70I|ADPRH_uc003ect.2_Missense_Mutation_p.L177I	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	177					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GBM(133;579 1804 5989 9967 40052)								0.102041	5.393433	20.860076	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119305362	119305362	332	3	C	A	A	A	416	32	ADPRH	2	2
SLC7A14	57709	broad.mit.edu	37	3	170244714	170244714	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170244714G>A	uc003fgz.2	-	c.12C>T	c.(10-12)TTC>TTT	p.F4F	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	4						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.4	6.27803	6.369081	4	6	KEEP	---	---	---	---	capture		Silent	SNP	170244714	170244714	15193	3	G	A	A	A	425	33	SLC7A14	2	2
CHL1	10752	broad.mit.edu	37	3	423942	423942	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:423942G>A	uc003bot.2	+	c.1957G>A	c.(1957-1959)GAC>AAC	p.D653N	CHL1_uc003bou.2_Missense_Mutation_p.D637N|CHL1_uc003bow.1_Missense_Mutation_p.D637N|CHL1_uc011asi.1_Missense_Mutation_p.D653N	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	637	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.060606	-5.056835	8.260184	4	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	423942	423942	3483	3	G	A	A	A	585	45	CHL1	2	2
CCBP2	1238	broad.mit.edu	37	3	42906618	42906618	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42906618C>T	uc003cme.2	+	c.624C>T	c.(622-624)CTC>CTT	p.L208L	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.L208L|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	208	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.241)										0.086957	1.198839	37.057073	18	189	KEEP	---	---	---	---	capture		Silent	SNP	42906618	42906618	2854	3	C	T	T	T	405	32	CCBP2	2	2
ROBO1	6091	broad.mit.edu	37	3	78763565	78763565	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78763565C>T	uc003dqe.2	-	c.1027G>A	c.(1027-1029)GCT>ACT	p.A343T	ROBO1_uc003dqb.2_Missense_Mutation_p.A304T|ROBO1_uc003dqc.2_Missense_Mutation_p.A304T|ROBO1_uc003dqd.2_Missense_Mutation_p.A304T|ROBO1_uc003dqf.1_Missense_Mutation_p.A19T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	343	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)						693				0.101266	5.236804	17.773781	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78763565	78763565	13992	3	C	T	T	T	325	25	ROBO1	2	2
SYNPO2	171024	broad.mit.edu	37	4	119952472	119952472	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119952472A>C	uc010inb.2	+	c.2542A>C	c.(2542-2544)ACA>CCA	p.T848P	SYNPO2_uc010ina.2_Missense_Mutation_p.T848P|SYNPO2_uc003icm.3_Missense_Mutation_p.T848P|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.T776P	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	848						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.084906	2.992951	21.5268	9	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119952472	119952472	15978	4	A	C	C	C	78	6	SYNPO2	4	4
FGA	2243	broad.mit.edu	37	4	155507769	155507769	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155507769C>G	uc003iod.1	-	c.812G>C	c.(811-813)CGA>CCA	p.R271P	FGA_uc003ioe.1_Missense_Mutation_p.R271P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	271	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.083333	3.071229	24.23337	10	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155507769	155507769	6067	4	C	G	G	G	403	31	FGA	3	3
WDR17	116966	broad.mit.edu	37	4	177017722	177017722	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177017722G>C	uc003iuj.2	+	c.52G>C	c.(52-54)GAA>CAA	p.E18Q	WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	18										ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.09434	10.565438	28.088932	10	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177017722	177017722	17850	4	G	C	C	C	585	45	WDR17	3	3
KIAA1211	57482	broad.mit.edu	37	4	57182258	57182258	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57182258G>C	uc003hbk.2	+	c.2590G>C	c.(2590-2592)GCA>CCA	p.A864P	KIAA1211_uc010iha.2_Missense_Mutation_p.A857P|KIAA1211_uc011bzz.1_Missense_Mutation_p.A774P|KIAA1211_uc003hbm.1_Missense_Mutation_p.A750P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	864										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.064516	-4.618491	13.706636	6	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57182258	57182258	8523	4	G	C	C	C	546	42	KIAA1211	3	3
RUFY3	22902	broad.mit.edu	37	4	71672318	71672318	+	Missense_Mutation	SNP	G	T	T	rs114009356	by1000genomes	TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71672318G>T	uc003hfr.2	+	c.1805G>T	c.(1804-1806)CGA>CTA	p.R602L	RUFY3_uc011cay.1_Missense_Mutation_p.R538L	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	Error:Variant_position_missing_in_Q7L099_after_alignment					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)											0.072581	-4.211616	19.093528	9	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71672318	71672318	14220	4	G	T	T	T	481	37	RUFY3	1	1
ADAMTS3	9508	broad.mit.edu	37	4	73178124	73178124	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73178124G>A	uc003hgk.1	-	c.1805C>T	c.(1804-1806)ACA>ATA	p.T602I	ADAMTS3_uc003hgl.2_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	602	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.112903	6.177012	15.353949	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73178124	73178124	268	4	G	A	A	A	624	48	ADAMTS3	2	2
NAA11	84779	broad.mit.edu	37	4	80246481	80246481	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:80246481G>T	uc003hlt.3	-	c.551C>A	c.(550-552)ACA>AAA	p.T184K		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	184						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2														0.107143	3.214171	7.493175	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80246481	80246481	10512	4	G	T	T	T	624	48	NAA11	2	2
WDFY3	23001	broad.mit.edu	37	4	85771114	85771114	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85771114G>A	uc003hpd.2	-	c.245C>T	c.(244-246)ACA>ATA	p.T82I	WDFY3_uc003hpf.2_Missense_Mutation_p.T82I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	82						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.103704	8.648338	29.760525	14	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85771114	85771114	17842	4	G	A	A	A	624	48	WDFY3	2	2
CAMK4	814	broad.mit.edu	37	5	110710570	110710570	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110710570C>T	uc011cvj.1	+	c.263C>T	c.(262-264)ACT>ATT	p.T88I	CAMK4_uc003kpf.2_Missense_Mutation_p.T88I|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	88	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)						687				0.089744	4.366448	17.614645	7	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110710570	110710570	2722	5	C	T	T	T	260	20	CAMK4	2	2
TNFAIP8	25816	broad.mit.edu	37	5	118728517	118728517	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118728517C>A	uc003ksh.2	+	c.38C>A	c.(37-39)ACA>AAA	p.T13K	TNFAIP8_uc003ksf.1_Missense_Mutation_p.T3K|TNFAIP8_uc003ksg.2_Missense_Mutation_p.T3K|TNFAIP8_uc011cwf.1_Missense_Mutation_p.T7K|TNFAIP8_uc003ksi.2_Missense_Mutation_p.T13K	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	13					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)										0.6	8.322987	8.366402	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118728517	118728517	16817	5	C	A	A	A	221	17	TNFAIP8	2	2
PCDHA13	56136	broad.mit.edu	37	5	140263970	140263970	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263970C>T	uc003lif.2	+	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V	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_Missense_Mutation_p.A706V|PCDHA13_uc003lid.2_Missense_Mutation_p.A706V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.12844	15.332012	29.951808	14	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140263970	140263970	11943	5	C	T	T	T	351	27	PCDHA13	1	1
PCDHB7	56129	broad.mit.edu	37	5	140553607	140553607	+	Silent	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553607C>A	uc003lit.2	+	c.1191C>A	c.(1189-1191)GTC>GTA	p.V397V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	397	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.121622	11.945544	22.305639	9	65	KEEP	---	---	---	---	capture		Silent	SNP	140553607	140553607	11967	5	C	A	A	A	392	31	PCDHB7	1	1
PCDHB10	56126	broad.mit.edu	37	5	140572893	140572893	+	Silent	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140572893C>A	uc003lix.2	+	c.768C>A	c.(766-768)CCC>CCA	p.P256P		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	256	Extracellular (Potential).|Cadherin 3.				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)											0.106061	6.875489	17.049018	7	59	KEEP	---	---	---	---	capture		Silent	SNP	140572893	140572893	11955	5	C	A	A	A	262	21	PCDHB10	2	2
PCDHGA12	26025	broad.mit.edu	37	5	140812375	140812375	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140812375C>A	uc003lkt.1	+	c.2049C>A	c.(2047-2049)AAC>AAA	p.N683K	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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.N683K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	683	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.087719	0.788202	10.540247	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140812375	140812375	11973	5	C	A	A	A	259	20	PCDHGA12	2	2
ATP6V0E1	8992	broad.mit.edu	37	5	172410887	172410887	+	Silent	SNP	G	C	C	rs35000513		TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:172410887G>C	uc003mcd.1	+	c.24G>C	c.(22-24)GTG>GTC	p.V8V		NM_003945	NP_003936	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0	8	Helical; (Potential).				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain	proton-transporting ATPase activity, rotational mechanism				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.05988	-13.326981	20.487865	10	157	KEEP	---	---	---	---	capture		Silent	SNP	172410887	172410887	1194	5	G	C	C	C	587	46	ATP6V0E1	3	3
PDZD2	23037	broad.mit.edu	37	5	32072373	32072373	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32072373G>A	uc003jhl.2	+	c.2675G>A	c.(2674-2676)GGA>GAA	p.G892E	PDZD2_uc003jhm.2_Missense_Mutation_p.G892E|PDZD2_uc011cnx.1_Missense_Mutation_p.G718E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	892					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.1	1.271903	7.66805	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32072373	32072373	12122	5	G	A	A	A	533	41	PDZD2	2	2
GZMK	3003	broad.mit.edu	37	5	54329714	54329714	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54329714C>A	uc003jpl.1	+	c.755C>A	c.(754-756)ACT>AAT	p.T252N		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	252	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)												0.064516	-2.900602	9.274179	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54329714	54329714	7198	5	C	A	A	A	260	20	GZMK	2	2
NSUN2	54888	broad.mit.edu	37	5	6611068	6611068	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:6611068C>T	uc003jdu.2	-	c.1226G>A	c.(1225-1227)TGC>TAC	p.C409Y	NSUN2_uc003jdt.2_Missense_Mutation_p.C173Y|NSUN2_uc011cmk.1_Missense_Mutation_p.C374Y|NSUN2_uc003jdv.2_Missense_Mutation_p.C173Y	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	409						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.09375	1.610073	6.911693	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6611068	6611068	11083	5	C	T	T	T	273	21	NSUN2	2	2
HS3ST5	222537	broad.mit.edu	37	6	114383995	114383995	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114383995C>A	uc003pwg.3	-	c.15G>T	c.(13-15)CAG>CAT	p.Q5H	HS3ST5_uc003pwh.3_Missense_Mutation_p.Q5H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	5	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)										0.093023	2.330247	16.668101	8	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114383995	114383995	7662	6	C	A	A	A	363	28	HS3ST5	2	2
DCBLD1	285761	broad.mit.edu	37	6	117846533	117846533	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117846533G>T	uc003pxs.2	+	c.521G>T	c.(520-522)TGC>TTC	p.C174F	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.C174F	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	174	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)						15				0.157895	11.423682	15.665784	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117846533	117846533	4451	6	G	T	T	T	598	46	DCBLD1	2	2
MAP3K4	4216	broad.mit.edu	37	6	161527689	161527689	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161527689G>T	uc003qtn.2	+	c.4000G>T	c.(4000-4002)GTT>TTT	p.V1334F	MAP3K4_uc010kkc.1_Missense_Mutation_p.V1330F|MAP3K4_uc003qto.2_Missense_Mutation_p.V1284F|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_Missense_Mutation_p.V787F|MAP3K4_uc003qtp.2_Missense_Mutation_p.V270F|MAP3K4_uc003qtq.2_Missense_Mutation_p.V23F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1334					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.053571	-11.294927	12.217733	6	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161527689	161527689	9635	6	G	T	T	T	520	40	MAP3K4	1	1
C6orf118	168090	broad.mit.edu	37	6	165715222	165715222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165715222C>A	uc003qum.3	-	c.589G>T	c.(589-591)GAC>TAC	p.D197Y	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	197											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.142857	6.521207	11.69375	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165715222	165715222	2425	6	C	A	A	A	390	30	C6orf118	2	2
ZKSCAN4	387032	broad.mit.edu	37	6	28213679	28213679	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28213679A>G	uc003nks.1	-	c.853T>C	c.(853-855)TGC>CGC	p.C285R	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.C130R	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	285	KRAB.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.072727	-3.280278	17.375997	8	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28213679	28213679	18280	6	A	G	G	G	104	8	ZKSCAN4	4	4
HLA-DRA	3122	broad.mit.edu	37	6	32411098	32411098	+	Silent	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32411098A>T	uc003obh.2	+	c.465A>T	c.(463-465)ACA>ACT	p.T155T	HLA-DRA_uc003obi.2_Silent_p.T130T	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	155	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)	1														0.134831	19.758698	31.247046	12	77	KEEP	---	---	---	---	capture		Silent	SNP	32411098	32411098	7498	6	A	T	T	T	80	7	HLA-DRA	3	3
PHF1	5252	broad.mit.edu	37	6	33382864	33382864	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33382864C>T	uc003oeh.2	+	c.1182C>T	c.(1180-1182)CGC>CGT	p.R394R	PHF1_uc011drh.1_Non-coding_Transcript|PHF1_uc003oei.2_Nonsense_Mutation_p.Q391*|PHF1_uc010jux.2_Silent_p.R194R	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	394					chromatin modification|regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)										OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	11.348587	13.851618	6	24	KEEP	---	---	---	---	capture		Silent	SNP	33382864	33382864	12243	6	C	T	T	T	325	25	PHF1	2	2
UBR2	23304	broad.mit.edu	37	6	42600601	42600601	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42600601G>T	uc011dur.1	+	c.1504G>T	c.(1504-1506)GAA>TAA	p.E502*	UBR2_uc011dus.1_Nonsense_Mutation_p.E147*|UBR2_uc010jxv.1_5'UTR|UBR2_uc003osh.2_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	502						nucleus|plasma membrane	zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)											0.102041	3.535907	11.275806	5	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42600601	42600601	17460	6	G	T	T	T	429	33	UBR2	5	2
ZNF318	24149	broad.mit.edu	37	6	43323078	43323078	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43323078G>C	uc003oux.2	-	c.1994C>G	c.(1993-1995)TCA>TGA	p.S665*	ZNF318_uc003ouw.2_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	665					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)											0.056911	-7.180044	18.17704	7	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43323078	43323078	18428	6	G	C	C	C	585	45	ZNF318	5	3
GPR115	221393	broad.mit.edu	37	6	47681878	47681878	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47681878G>T	uc003oyz.1	+	c.1068G>T	c.(1066-1068)GGG>GGT	p.G356G	GPR115_uc003oza.1_Silent_p.G299G|GPR115_uc003ozb.1_Silent_p.G297G	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	299	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|breast(1)	4						GBM(22;431 510 9010 26644 32828)								0.108108	4.080809	9.707126	4	33	KEEP	---	---	---	---	capture		Silent	SNP	47681878	47681878	6906	6	G	T	T	T	548	43	GPR115	2	2
F13A1	2162	broad.mit.edu	37	6	6175039	6175039	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6175039G>A	uc003mwv.2	-	c.1521C>T	c.(1519-1521)CTC>CTT	p.L507L	F13A1_uc011dib.1_Silent_p.L444L	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	507					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.071429	-1.108624	6.840124	3	39	KEEP	---	---	---	---	capture		Silent	SNP	6175039	6175039	5534	6	G	A	A	A	574	45	F13A1	2	2
ACHE	43	broad.mit.edu	37	7	100491143	100491143	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100491143G>T	uc003uxe.2	-	c.711C>A	c.(709-711)GCC>GCA	p.A237A	ACHE_uc003uxd.2_Silent_p.A237A|ACHE_uc003uxf.2_Silent_p.A237A|ACHE_uc003uxg.2_Silent_p.A237A|ACHE_uc003uxh.2_Silent_p.A237A|ACHE_uc003uxi.2_Silent_p.A237A|ACHE_uc003uxj.1_Silent_p.A356A	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	237					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.210526	19.703046	22.63095	8	30	KEEP	---	---	---	---	capture		Silent	SNP	100491143	100491143	142	7	G	T	T	T	496	39	ACHE	1	1
MUC17	140453	broad.mit.edu	37	7	100683879	100683879	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100683879C>T	uc003uxp.1	+	c.9182C>T	c.(9181-9183)CCT>CTT	p.P3061L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3061	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|49.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.079268	2.803721	32.386353	13	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100683879	100683879	10368	7	C	T	T	T	312	24	MUC17	2	2
MLL5	55904	broad.mit.edu	37	7	104742407	104742407	+	Silent	SNP	T	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:104742407T>C	uc003vcm.2	+	c.1962T>C	c.(1960-1962)TTT>TTC	p.F654F	MLL5_uc010ljc.2_Silent_p.F654F|MLL5_uc010lje.1_Non-coding_Transcript	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	654					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.155738	38.351598	52.163332	19	103	KEEP	---	---	---	---	capture		Silent	SNP	104742407	104742407	10014	7	T	C	C	C	829	64	MLL5	4	4
SLC37A3	84255	broad.mit.edu	37	7	140051137	140051137	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140051137C>A	uc003vvo.2	-	c.818G>T	c.(817-819)AGT>ATT	p.S273I	SLC37A3_uc003vvp.2_Missense_Mutation_p.S273I|SLC37A3_uc010lnh.2_Missense_Mutation_p.S273I|SLC37A3_uc011kqz.1_Non-coding_Transcript|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	273					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					Esophageal Squamous(133;211 1716 4665 11387 37873)								0.1	4.374839	15.565003	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140051137	140051137	15096	7	C	A	A	A	260	20	SLC37A3	2	2
HDAC9	9734	broad.mit.edu	37	7	18869166	18869166	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18869166G>C	uc003sui.2	+	c.2461G>C	c.(2461-2463)GAT>CAT	p.D821H	HDAC9_uc003sue.2_Missense_Mutation_p.D818H|HDAC9_uc011jyd.1_Missense_Mutation_p.D818H|HDAC9_uc003suh.2_Missense_Mutation_p.D818H|HDAC9_uc003suj.2_Missense_Mutation_p.D777H|HDAC9_uc003suk.2_Missense_Mutation_p.D66H	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	818	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.081081	2.502539	15.722308	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18869166	18869166	7297	7	G	C	C	C	429	33	HDAC9	3	3
AVL9	23080	broad.mit.edu	37	7	32598881	32598881	+	Silent	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:32598881G>A	uc003tcv.1	+	c.1020G>A	c.(1018-1020)GAG>GAA	p.E340E	AVL9_uc011kai.1_Silent_p.E340E|AVL9_uc010kwj.1_Silent_p.E181E	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	340						integral to membrane					0														0.067797	-1.835442	9.559999	4	55	KEEP	---	---	---	---	capture		Silent	SNP	32598881	32598881	1249	7	G	A	A	A	451	35	AVL9	2	2
PCLO	27445	broad.mit.edu	37	7	82583174	82583174	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82583174C>T	uc003uhx.2	-	c.7095G>A	c.(7093-7095)GAG>GAA	p.E2365E	PCLO_uc003uhv.2_Silent_p.E2365E|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2296					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														0.048193	-9.451836	8.551013	4	79	KEEP	---	---	---	---	capture		Silent	SNP	82583174	82583174	12003	7	C	T	T	T	415	32	PCLO	2	2
PABPC1	26986	broad.mit.edu	37	8	101719131	101719131	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101719131C>G	uc003yjs.1	-	c.1431G>C	c.(1429-1431)ATG>ATC	p.M477I	PABPC1_uc011lhc.1_Missense_Mutation_p.M445I|PABPC1_uc011lhd.1_Missense_Mutation_p.M432I|PABPC1_uc003yjt.1_Missense_Mutation_p.M474I|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	477					mRNA polyadenylation|mRNA stabilization|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)											0.196078	52.241317	61.020603	20	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101719131	101719131	11776	8	C	G	G	G	221	17	PABPC1	3	3
CSMD3	114788	broad.mit.edu	37	8	113323222	113323222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113323222C>A	uc003ynu.2	-	c.7870G>T	c.(7870-7872)GTC>TTC	p.V2624F	CSMD3_uc003yns.2_Missense_Mutation_p.V1826F|CSMD3_uc003ynt.2_Missense_Mutation_p.V2584F|CSMD3_uc011lhx.1_Missense_Mutation_p.V2520F|CSMD3_uc003ynw.1_Missense_Mutation_p.V335F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2624	Extracellular (Potential).|Sushi 14.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.077922	-0.110651	13.915486	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113323222	113323222	4087	8	C	A	A	A	260	20	CSMD3	2	2
ZHX1	11244	broad.mit.edu	37	8	124267459	124267459	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124267459T>A	uc003yqe.2	-	c.728A>T	c.(727-729)CAT>CTT	p.H243L	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.H243L|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.H243L	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	243					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)											0.103448	6.908143	15.98719	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124267459	124267459	18266	8	T	A	A	A	663	51	ZHX1	3	3
ADCY8	114	broad.mit.edu	37	8	131861916	131861916	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131861916A>T	uc003ytd.3	-	c.2344T>A	c.(2344-2346)TAT>AAT	p.Y782N	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	782					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.163121	44.35594	59.546082	23	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131861916	131861916	301	8	A	T	T	T	195	15	ADCY8	3	3
ZFHX4	79776	broad.mit.edu	37	8	77766701	77766701	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766701A>G	uc003yav.2	+	c.7409A>G	c.(7408-7410)CAC>CGC	p.H2470R	ZFHX4_uc003yau.1_Missense_Mutation_p.H2515R|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2470R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2470	C2H2-type 16.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.073276	-8.590575	35.236923	17	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766701	77766701	18223	8	A	G	G	G	78	6	ZFHX4	4	4
INTS8	55656	broad.mit.edu	37	8	95888301	95888301	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95888301G>A	uc003yhb.2	+	c.2689_splice	c.e24-1	p.V897_splice	INTS8_uc011lgq.1_Splice_Site_SNP|INTS8_uc011lgr.1_Splice_Site_SNP|INTS8_uc010mba.2_Splice_Site_SNP_p.V707_splice	NM_017864	NP_060334			integrator complex subunit 8						snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)													0.060241	-5.090411	11.684094	5	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	95888301	95888301	8085	8	G	A	A	A	455	35	INTS8	5	2
POP1	10940	broad.mit.edu	37	8	99169980	99169980	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99169980C>T	uc003yij.3	+	c.2556C>T	c.(2554-2556)TTC>TTT	p.F852F	POP1_uc011lgv.1_Silent_p.F852F|POP1_uc003yik.2_Silent_p.F852F	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	852					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)											0.046512	-10.547247	8.289124	4	82	KEEP	---	---	---	---	capture		Silent	SNP	99169980	99169980	12680	8	C	T	T	T	389	30	POP1	2	2
DBC1	1620	broad.mit.edu	37	9	122004361	122004361	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:122004361C>A	uc004bkc.2	-	c.543G>T	c.(541-543)AGG>AGT	p.R181S	DBC1_uc004bkd.2_Missense_Mutation_p.R181S	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	181	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.057471	-9.922764	7.905161	5	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122004361	122004361	4418	9	C	A	A	A	337	26	DBC1	2	2
NUP188	23511	broad.mit.edu	37	9	131730947	131730947	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131730947A>C	uc004bws.1	+	c.748A>C	c.(748-750)AAT>CAT	p.N250H		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	250					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.07563	-3.222623	18.82771	9	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131730947	131730947	11163	9	A	C	C	C	65	5	NUP188	4	4
KIAA1797	54914	broad.mit.edu	37	9	20981490	20981490	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20981490G>T	uc003zog.1	+	c.4443G>T	c.(4441-4443)CAG>CAT	p.Q1481H	KIAA1797_uc003zoh.1_Missense_Mutation_p.Q917H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1481						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)										0.094118	3.631905	17.706967	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20981490	20981490	8569	9	G	T	T	T	425	33	KIAA1797	2	2
TRPM6	140803	broad.mit.edu	37	9	77354666	77354666	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77354666C>A	uc004ajl.1	-	c.5460G>T	c.(5458-5460)GAG>GAT	p.E1820D	TRPM6_uc004ajk.1_Missense_Mutation_p.E1815D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E771D|TRPM6_uc010mpd.1_Missense_Mutation_p.E653D|TRPM6_uc010mpe.1_Missense_Mutation_p.E367D|TRPM6_uc004ajj.1_Missense_Mutation_p.E776D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1820	Alpha-type protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.090426	4.922587	36.744699	17	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77354666	77354666	17141	9	C	A	A	A	415	32	TRPM6	2	2
MAGEC3	139081	broad.mit.edu	37	X	140969493	140969493	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140969493C>T	uc011mwp.1	+	c.820C>T	c.(820-822)CGC>TGC	p.R274C		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	274	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.104651	7.763969	21.088717	9	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140969493	140969493	9563	23	C	T	T	T	299	23	MAGEC3	1	1
FAM47A	158724	broad.mit.edu	37	X	34148898	34148898	+	Silent	SNP	G	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148898G>T	uc004ddg.2	-	c.1498C>A	c.(1498-1500)CGG>AGG	p.R500R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	500			Missing.							ovary(4)|central_nervous_system(1)	5														0.138889	7.153003	11.688582	5	31	KEEP	---	---	---	---	capture		Silent	SNP	34148898	34148898	5790	23	G	T	T	T	480	37	FAM47A	1	1
FAM47A	158724	broad.mit.edu	37	X	34149052	34149052	+	Silent	SNP	C	T	T			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34149052C>T	uc004ddg.2	-	c.1344G>A	c.(1342-1344)CGG>CGA	p.R448R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	448										ovary(4)|central_nervous_system(1)	5														0.146341	9.441204	14.355565	6	35	KEEP	---	---	---	---	capture		Silent	SNP	34149052	34149052	5790	23	C	T	T	T	275	22	FAM47A	2	2
CXorf59	286464	broad.mit.edu	37	X	36091390	36091390	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36091390G>A	uc004ddk.1	+	c.325G>A	c.(325-327)GAG>AAG	p.E109K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	109						integral to membrane				central_nervous_system(1)	1														0.119048	4.841205	10.834209	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36091390	36091390	4279	23	G	A	A	A	585	45	CXorf59	2	2
CXorf59	286464	broad.mit.edu	37	X	36091419	36091419	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36091419G>C	uc004ddk.1	+	c.354G>C	c.(352-354)TGG>TGC	p.W118C		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	118						integral to membrane				central_nervous_system(1)	1														0.083333	1.962726	10.430542	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36091419	36091419	4279	23	G	C	C	C	572	44	CXorf59	3	3
WNK3	65267	broad.mit.edu	37	X	54321219	54321219	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54321219C>A	uc004dtc.1	-	c.1460G>T	c.(1459-1461)CGG>CTG	p.R487L	WNK3_uc004dtd.1_Missense_Mutation_p.R487L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	487					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.152174	14.017904	19.3258	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54321219	54321219	17953	23	C	A	A	A	299	23	WNK3	1	1
CTBP2	1488	broad.mit.edu	37	10	126715154	126715156	+	In_Frame_Del	DEL	AGA	-	-	rs3781412	byFrequency;by1000genomes	TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126715154_126715156delAGA	uc001lie.3	-	c.1173_1175delTCT	c.(1171-1176)CCTCTG>CCG	p.L392del	CTBP2_uc009yak.2_Intron|CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	Error:Variant_position_missing_in_P56545_after_alignment					negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)						463				0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	126715154	126715156	4157	10	AGA	-	-	-	91	7	CTBP2	5	5
PARD6G	84552	broad.mit.edu	37	18	77917844	77917845	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77917844_77917845insG	uc002lny.2	-	c.940_941insC	c.(940-942)CAGfs	p.Q314fs	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	314					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)										0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	77917844	77917845	11864	18	-	G	G	G	715	55	PARD6G	5	5
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131129929_131129934delGACGGG	uc002trc.2	+	c.1113_1118delGACGGG	c.(1111-1119)CAGACGGGG>CAG	p.TG378del	PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	378_379				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)													0.83			5	1		---	---	---	---	capture_indel		In_Frame_Del	DEL	131129929	131129934	13239	2	GACGGG	-	-	-	425	33	PTPN18	5	5
SSFA2	6744	broad.mit.edu	37	2	182756993	182756994	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z020-01	TCGA-17-Z020-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182756993_182756994insG	uc002uoi.2	+	c.200_201insG	c.(199-201)GCGfs	p.A67fs	SSFA2_uc010zfn.1_Frame_Shift_Ins_p.A67fs|SSFA2_uc002uoh.2_Frame_Shift_Ins_p.A67fs|SSFA2_uc002uoj.2_Frame_Shift_Ins_p.A67fs|SSFA2_uc002uok.2_Non-coding_Transcript|SSFA2_uc010zfo.1_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	67						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	182756993	182756994	15699	2	-	G	G	G	351	27	SSFA2	5	5
