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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PTEN	5728	broad.mit.edu	36	10	89614279	89614279	+	Missense_Mutation	SNP	T	G	G			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89614279T>G	uc001kfb.1	+	c.73T>G	c.(73-75)TTG>GTG	p.L25V	KILLIN_uc009xti.1_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(12)|p.D24_L25del(1)|p.L25F(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31	p.L25L(COLO684-Tumor)|p.L25Q(SUPHD1-Tumor)|p.L25L(COLO704-Tumor)|p.L25V(OVK18-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.848485	98.821219	102.658733	28	5	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	SNP	89614279	89614279	13192	10	T	G	G	56	56	PTEN	G	4	4
CADM1	23705	broad.mit.edu	36	11	114616266	114616266	+	Missense_Mutation	SNP	T	A	A			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:114616266T>A	uc001ppj.2	-	c.209A>T	c.(208-210)GAC>GTC	p.D70V	CADM1_uc001ppf.2_Missense_Mutation_p.D70V|CADM1_uc001ppi.2_Missense_Mutation_p.D70V|CADM1_uc001ppk.2_Missense_Mutation_p.D70V|CADM1_uc001ppl.2_Missense_Mutation_p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	70	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)												0.294118	24.533821	25.825602	10	24	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	Missense_Mutation	SNP	114616266	114616266	2682	11	T	A	A	58	58	CADM1	A	4	4
CHEK1	1111	broad.mit.edu	36	11	125008342	125008342	+	Missense_Mutation	SNP	A	T	T			TCGA-76-6191-01	TCGA-76-6191-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125008342A>T	uc009zbo.1	+	c.499A>T	c.(499-501)ATG>TTG	p.M167L	CHEK1_uc001qcf.2_Missense_Mutation_p.M167L|CHEK1_uc009zbp.1_Missense_Mutation_p.M167L|CHEK1_uc001qcg.2_Missense_Mutation_p.M167L|CHEK1_uc009zbq.1_Missense_Mutation_p.M167L|CHEK1_uc001qch.2_Missense_Mutation_p.M73L|CHEK1_uc001qci.1_Non-coding_Transcript	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	CHK1 checkpoint homolog	167	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)								124				0.466667	85.194112	85.25217	28	32	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	Missense_Mutation	SNP	125008342	125008342	3468	11	A	T	T	12	12	CHEK1	T	4	4
TSPAN32	10077	broad.mit.edu	36	11	2291530	2291530	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2291530G>A	uc001lvy.1	+	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	tumor-suppressing subtransferable candidate 6	142					cell-cell signaling	integral to membrane				central_nervous_system(1)	1		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)												0.4	12.299033	12.386152	4	6	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	Missense_Mutation	SNP	2291530	2291530	17198	11	G	A	A	39	39	TSPAN32	A	1	1
OR52R1	119695	broad.mit.edu	36	11	4782088	4782088	+	Silent	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4782088C>T	uc001lzm.1	-	c.336G>A	c.(334-336)CCG>CCA	p.P112P		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)												0.391304	25.769662	26.007702	9	14	CC		KEEP	---	---	---	---	capture		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	Silent	SNP	4782088	4782088	11541	11	C	T	T	19	19	OR52R1	T	1	1
OR5D14	219436	broad.mit.edu	36	11	55320298	55320298	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55320298C>T	uc001nhv.1	+	c.691C>T	c.(691-693)CGT>TGT	p.R231C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.430233	115.269257	115.632523	37	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55320298	55320298	11565	11	C	T	T	23	23	OR5D14	T	1	1
MS4A6E	245802	broad.mit.edu	36	11	59859026	59859026	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59859026G>A	uc001npd.1	+	c.82G>A	c.(82-84)GAA>AAA	p.E28K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	28	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.376471	93.186007	94.321722	32	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59859026	59859026	10258	11	G	A	A	37	37	MS4A6E	A	1	1
MS4A14	84689	broad.mit.edu	36	11	59939607	59939607	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59939607C>T	uc001npj.1	+	c.590C>T	c.(589-591)GCA>GTA	p.A197V	MS4A14_uc001npi.1_Missense_Mutation_p.A85V|MS4A14_uc001npn.1_5'UTR|MS4A14_uc001npk.1_Missense_Mutation_p.A180V|MS4A14_uc001npl.1_5'UTR|MS4A14_uc001npm.1_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	197						integral to membrane	receptor activity			breast(1)	1														0.382353	73.930653	74.757142	26	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59939607	59939607	10251	11	C	T	T	25	25	MS4A14	T	2	2
MS4A12	54860	broad.mit.edu	36	11	60027808	60027808	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60027808T>C	uc001npr.1	+	c.530T>C	c.(529-531)ATT>ACT	p.I177T		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	177	Helical; (Potential).					integral to membrane	receptor activity				0														0.372549	60.195357	60.92876	19	32	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60027808	60027808	10249	11	T	C	C	52	52	MS4A12	C	4	4
PPFIA1	8500	broad.mit.edu	36	11	69859403	69859403	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69859403G>A	uc001opo.1	+	c.1383G>A	c.(1381-1383)AGG>AGA	p.R461R	PPFIA1_uc001opn.1_Silent_p.R461R|PPFIA1_uc001opp.1_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	461	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3														0.380952	69.583604	70.367228	24	39	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		Silent	SNP	69859403	69859403	12739	11	G	A	A	42	42	PPFIA1	A	2	2
PLCZ1	89869	broad.mit.edu	36	12	18727516	18727516	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18727516C>T	uc009zim.1	-	c.1751G>A	c.(1750-1752)CGT>CAT	p.R584H	PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript|PLCZ1_uc001rdv.2_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.2_Missense_Mutation_p.R325H	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	584					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)													0.5	40.273889	40.273889	13	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18727516	18727516	12470	12	C	T	T	19	19	PLCZ1	T	1	1
MCF2L	23263	broad.mit.edu	36	13	112777316	112777316	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112777316G>T	uc001vsu.2	+	c.1291G>T	c.(1291-1293)GCC>TCC	p.A431S	MCF2L_uc001vsq.2_Missense_Mutation_p.A431S|MCF2L_uc001vsr.2_Missense_Mutation_p.A378S|MCF2L_uc001vss.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	404	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)												0.329268	69.992479	72.113809	27	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112777316	112777316	9768	13	G	T	T	42	42	MCF2L	T	3	3
EFHA1	221154	broad.mit.edu	36	13	20965477	20965477	+	Missense_Mutation	SNP	T	G	G			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:20965477T>G	uc001uof.1	-	c.1216A>C	c.(1216-1218)AGT>CGT	p.S406R		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	406							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)				Melanoma(62;324 1254 9816 15680 25767)								0.375	58.101178	58.772356	18	30	TT		KEEP	---	---	---	---	capture		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	Missense_Mutation	SNP	20965477	20965477	5131	13	T	G	G	54	54	EFHA1	G	4	4
MYH7	4625	broad.mit.edu	36	14	22955058	22955058	+	Silent	SNP	A	G	G			TCGA-76-6191-01	TCGA-76-6191-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22955058A>G	uc001wjw.1	-	c.4948T>C	c.(4948-4950)TTG>CTG	p.L1650L	MYH7_uc001wjx.1_Silent_p.L1650L	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1650	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)													0.142857	7.682923	11.12257	4	24	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00725)	Silent	SNP	22955058	22955058	10434	14	A	G	G	2	2	MYH7	G	4	4
KCNK10	54207	broad.mit.edu	36	14	87721716	87721716	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87721716G>A	uc001xwm.1	-	c.1548C>T	c.(1546-1548)CAC>CAT	p.H516H	KCNK10_uc001xwn.1_Silent_p.H516H|KCNK10_uc001xwo.1_Silent_p.H511H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	511	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.470588	97.727459	97.775038	32	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	87721716	87721716	8364	14	G	A	A	40	40	KCNK10	A	1	1
FMN1	342184	broad.mit.edu	36	15	31147104	31147104	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31147104C>T	uc001zhf.2	-	c.274G>A	c.(274-276)GGA>AGA	p.G92R	FMN1_uc001zhg.2_Missense_Mutation_p.G92R	NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	Error:Variant_position_missing_in_C9JFW6_after_alignment										ovary(1)	1		all_lung(180;1.14e-07)												0.159091	14.903862	19.769702	7	37	CC		KEEP	---	---	---	---	capture		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Missense_Mutation	SNP	31147104	31147104	6191	15	C	T	T	23	23	FMN1	T	1	1
TGM5	9333	broad.mit.edu	36	15	41332286	41332286	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41332286G>A	uc001zrd.1	-	c.825C>T	c.(823-825)TAC>TAT	p.Y275Y	TGM5_uc001zre.1_Silent_p.Y193Y	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	275					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)			L-Glutamine(DB00130)									0.535714	44.72325	44.754086	15	13	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;4e-07)	Silent	SNP	41332286	41332286	16361	15	G	A	A	40	40	TGM5	A	1	1
LDHAL6B	92483	broad.mit.edu	36	15	57286874	57286874	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:57286874G>T	uc002agb.1	+	c.443G>T	c.(442-444)CGC>CTC	p.R148L	MYO1E_uc002aga.1_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	148		NAD (By similarity).			glycolysis|oxidation-reduction process	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)									0.720588	168.802906	171.778986	49	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57286874	57286874	9024	15	G	T	T	38	38	LDHAL6B	T	3	3
C16orf59	80178	broad.mit.edu	36	16	2451145	2451145	+	Missense_Mutation	SNP	C	G	G	rs34653281	unknown	TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2451145C>G	uc002cqh.1	+	c.524C>G	c.(523-525)CCT>CGT	p.P175R	C16orf59_uc002cqf.1_Missense_Mutation_p.P175R|C16orf59_uc002cqg.1_Missense_Mutation_p.P8R|C16orf59_uc002cqi.1_Missense_Mutation_p.P8R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	hypothetical protein LOC80178	175											0		Ovarian(90;0.17)												0.545455	40.701602	40.741071	12	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2451145	2451145	1876	16	C	G	G	24	24	C16orf59	G	3	3
GRIN2A	2903	broad.mit.edu	36	16	9766139	9766139	+	Silent	SNP	A	T	T			TCGA-76-6191-01	TCGA-76-6191-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:9766139A>T	uc002czp.1	-	c.2763T>A	c.(2761-2763)GCT>GCA	p.A921A	GRIN2A_uc002czq.1_Silent_p.A921A|GRIN2A_uc002czr.2_Silent_p.A921A	NM_000833	NP_000824	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	921	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.403409	222.994794	224.429052	71	105	AA		KEEP	---	---	---	---	capture			Silent	SNP	9766139	9766139	7058	16	A	T	T	7	7	GRIN2A	T	4	4
LRRC48	83450	broad.mit.edu	36	17	17851183	17851183	+	Silent	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17851183C>T	uc002gsb.1	+	c.1323C>T	c.(1321-1323)CGC>CGT	p.R441R	LRRC48_uc002gsc.2_Non-coding_Transcript	NM_031294	NP_112584	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	441						cytoplasm				pancreas(1)	1	all_neural(463;0.228)													0.666667	17.849959	18.070874	6	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	17851183	17851183	9380	17	C	T	T	27	27	LRRC48	T	1	1
MAP3K3	4215	broad.mit.edu	36	17	59120778	59120778	+	Silent	SNP	G	A	A	rs55880609	unknown	TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59120778G>A	uc002jbe.1	+	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	MAP3K3_uc002jbf.1_Silent_p.A369A|MAP3K3_uc002jbg.1_Silent_p.A338A|MAP3K3_uc002jbh.1_Silent_p.A365A|MAP3K3_uc002jbi.1_Silent_p.A324A	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	338					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4									p.A369A(JHOS4-Tumor)|p.A369A(YD10B-Tumor)|p.A369A(SNUC5-Tumor)|p.A369A(SNU475-Tumor)|p.A369A(JHH4-Tumor)|p.A369A(KMS26-Tumor)|p.A369A(SNU349-Tumor)|p.A369A(SNU1077-Tumor)|p.A369A(SNU5-Tumor)|p.A369A(ECGI10-Tumor)|p.A369A(SBC5-Tumor)|p.A369A(SNU387-Tumor)	183				0.333333	17.7446	18.187111	6	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	59120778	59120778	9634	17	G	A	A	39	39	MAP3K3	A	1	1
CD79B	974	broad.mit.edu	36	17	59361383	59361383	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59361383G>A	uc002jdp.1	-	c.216C>T	c.(214-216)TCC>TCT	p.S72S	CD79B_uc002jdo.1_Silent_p.S45S|CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	CD79B antigen isoform 3 precursor	71	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0										62				0.386364	51.147356	51.650517	17	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	59361383	59361383	3165	17	G	A	A	39	39	CD79B	A	1	1
CYP4F2	8529	broad.mit.edu	36	19	15861481	15861481	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15861481C>T	uc002nbs.1	-	c.670G>A	c.(670-672)GCC>ACC	p.A224T		NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	224					leukotriene metabolic process|long-chain fatty acid metabolic process|oxidation-reduction process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2														0.377551	108.2542	109.542294	37	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15861481	15861481	4353	19	C	T	T	27	27	CYP4F2	T	1	1
THEG	51298	broad.mit.edu	36	19	313356	313356	+	Silent	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:313356C>T	uc002lol.1	-	c.984G>A	c.(982-984)AAG>AAA	p.K328K	THEG_uc002lom.1_Silent_p.K304K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	328	THEG 6.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.439024	111.692109	111.957066	36	46	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	313356	313356	16385	19	C	T	T	32	32	THEG	T	2	2
RYR1	6261	broad.mit.edu	36	19	43693221	43693221	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43693221G>A	uc002oit.1	+	c.9082G>A	c.(9082-9084)GGT>AGT	p.G3028S	RYR1_uc002oiu.1_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3028	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.5	87.994868	87.994868	28	28	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43693221	43693221	14248	19	G	A	A	39	39	RYR1	A	1	1
PRX	57716	broad.mit.edu	36	19	45594256	45594256	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45594256C>T	uc002onr.1	-	c.1843G>A	c.(1843-1845)GAT>AAT	p.D615N	PRX_uc002onq.1_Missense_Mutation_p.D476N|PRX_uc002ons.1_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	615	29.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2														0.45614	240.311385	240.599674	78	93	CC		KEEP	---	---	---	---	capture	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45594256	45594256	13093	19	C	T	T	31	31	PRX	T	1	1
COL5A3	50509	broad.mit.edu	36	19	9965318	9965318	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9965318G>T	uc002mmq.1	-	c.1672C>A	c.(1672-1674)CTG>ATG	p.L558M		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	558	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														0.473684	52.955374	52.977297	18	20	GG		KEEP	---	---	---	---	capture	Epithelial(33;7.11e-05)		Missense_Mutation	SNP	9965318	9965318	3836	19	G	T	T	34	34	COL5A3	T	3	3
GJA5	2702	broad.mit.edu	36	1	145697020	145697020	+	Silent	SNP	A	G	G			TCGA-76-6191-01	TCGA-76-6191-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145697020A>G	uc001eps.1	-	c.951T>C	c.(949-951)TAT>TAC	p.Y317Y	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron|GJA5_uc001ept.1_Silent_p.Y317Y|GJA5_uc009wjk.1_Silent_p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	317	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)													0.359551	91.237377	92.798305	32	57	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.202)		Silent	SNP	145697020	145697020	6672	1	A	G	G	8	8	GJA5	G	4	4
KPRP	448834	broad.mit.edu	36	1	150998875	150998875	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150998875G>A	uc001fal.1	+	c.187G>A	c.(187-189)GCT>ACT	p.A63T	KPRP_uc009wnn.1_Missense_Mutation_p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	63	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.414894	113.716963	114.280451	39	55	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150998875	150998875	8751	1	G	A	A	42	42	KPRP	A	2	2
METTL13	51603	broad.mit.edu	36	1	170032322	170032322	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:170032322C>A	uc001ghz.1	+	c.1903C>A	c.(1903-1905)CCC>ACC	p.P635T	METTL13_uc001gia.1_Missense_Mutation_p.P549T|METTL13_uc001gib.1_Missense_Mutation_p.P479T|METTL13_uc001gic.1_Non-coding_Transcript	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	635							methyltransferase activity|protein binding			kidney(1)	1														0.411111	95.836861	96.462504	37	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170032322	170032322	9887	1	C	A	A	22	22	METTL13	A	3	3
TPR	7175	broad.mit.edu	36	1	184556088	184556088	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184556088C>T	uc001grv.1	-	c.6547G>A	c.(6547-6549)GGC>AGC	p.G2183S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2183					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)								1949				0.3	9.221001	9.578409	3	7	CC		KEEP	---	---	---	---	capture		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	Missense_Mutation	SNP	184556088	184556088	16960	1	C	T	T	21	21	TPR	T	2	2
MATN4	8785	broad.mit.edu	36	20	43360072	43360072	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43360072G>A	uc002xnn.1	-	c.1479C>T	c.(1477-1479)CGC>CGT	p.R493R	MATN4_uc002xno.1_Silent_p.R452R|MATN4_uc002xnp.1_Silent_p.R411R|MATN4_uc002xnq.1_Silent_p.R452R|MATN4_uc002xnr.1_Silent_p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	534	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)												0.419355	33.492149	33.661379	13	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	43360072	43360072	9720	20	G	A	A	38	38	MATN4	A	1	1
NCOA5	57727	broad.mit.edu	36	20	44127113	44127113	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44127113C>T	uc002xrd.1	-	c.791G>A	c.(790-792)CGC>CAC	p.R264H	NCOA5_uc002xrc.1_Missense_Mutation_p.R152H|NCOA5_uc002xre.1_Missense_Mutation_p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)												0.377778	95.026372	96.206675	34	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44127113	44127113	10631	20	C	T	T	27	27	NCOA5	T	1	1
COL6A1	1291	broad.mit.edu	36	21	46234736	46234736	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46234736G>A	uc002zhu.1	+	c.974G>A	c.(973-975)CGT>CAT	p.R325H		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	325	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.5	38.673126	38.673126	13	13	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46234736	46234736	3837	21	G	A	A	40	40	COL6A1	A	1	1
TCF20	6942	broad.mit.edu	36	22	40939461	40939461	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40939461C>A	uc003bcj.1	-	c.1795G>T	c.(1795-1797)GTT>TTT	p.V599F	TCF20_uc003bck.1_Missense_Mutation_p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.373494	92.104963	93.271128	31	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40939461	40939461	16216	22	C	A	A	18	18	TCF20	A	3	3
KCNJ3	3760	broad.mit.edu	36	2	155419766	155419766	+	Missense_Mutation	SNP	T	A	A			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:155419766T>A	uc002tyv.1	+	c.1201T>A	c.(1201-1203)TCT>ACT	p.S401T		NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	401	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.482517	221.069917	221.107849	69	74	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155419766	155419766	8357	2	T	A	A	50	50	KCNJ3	A	4	4
LRP2	4036	broad.mit.edu	36	2	169711621	169711621	+	Missense_Mutation	SNP	C	A	A			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169711621C>A	uc002ues.1	-	c.12685G>T	c.(12685-12687)GGT>TGT	p.G4229C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4229	LDL-receptor class B 36.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.408163	58.487791	58.849416	20	29	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169711621	169711621	9329	2	C	A	A	21	21	LRP2	A	3	3
EHHADH	1962	broad.mit.edu	36	3	186393229	186393229	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186393229G>A	uc003fpf.1	-	c.1651C>T	c.(1651-1653)CGA>TGA	p.R551*		NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	551	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)				NADH(DB00157)									0.447368	55.871629	55.963157	17	21	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		Nonsense_Mutation	SNP	186393229	186393229	5171	3	G	A	A	39	39	EHHADH	A	5	1
TRAK1	22906	broad.mit.edu	36	3	42142082	42142082	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42142082G>A	uc003cky.1	+	c.258G>A	c.(256-258)GAG>GAA	p.E86E		NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.451613	86.691023	86.817693	28	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	42142082	42142082	16993	3	G	A	A	34	34	TRAK1	A	2	2
OR5H1	26341	broad.mit.edu	36	3	99335105	99335105	+	Silent	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99335105C>T	uc003dsf.1	+	c.874C>T	c.(874-876)CTG>TTG	p.L292L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.3125	75.244132	77.748816	25	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	99335105	99335105	11569	3	C	T	T	32	32	OR5H1	T	2	2
RXFP1	59350	broad.mit.edu	36	4	159774042	159774042	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:159774042C>T	uc003ipz.1	+	c.935C>T	c.(934-936)CCG>CTG	p.P312L	RXFP1_uc010iqj.1_Missense_Mutation_p.P141L|RXFP1_uc010iqk.1_Missense_Mutation_p.P180L|RXFP1_uc010iql.1_Missense_Mutation_p.P156L|RXFP1_uc010iqm.1_Missense_Mutation_p.P279L|RXFP1_uc010iqn.1_Missense_Mutation_p.P258L|RXFP1_uc010iqo.1_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	312	Extracellular (Potential).|LRR 7.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.346154	54.136765	55.222273	18	34	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0219)	Missense_Mutation	SNP	159774042	159774042	14239	4	C	T	T	23	23	RXFP1	T	1	1
SPOCK3	50859	broad.mit.edu	36	4	167899780	167899780	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167899780G>T	uc003iri.1	-	c.946C>A	c.(946-948)CCT>ACT	p.P316T	SPOCK3_uc003irj.1_Missense_Mutation_p.P313T	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	316	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)												0.43038	106.740983	107.073818	34	45	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.02)	Missense_Mutation	SNP	167899780	167899780	15594	4	G	T	T	44	44	SPOCK3	T	3	3
RGS12	6002	broad.mit.edu	36	4	3289467	3289467	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3289467C>T	uc003ggw.1	+	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc003ggv.1_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	591						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1														0.443396	135.81395	136.108985	47	59	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	3289467	3289467	13769	4	C	T	T	27	27	RGS12	T	1	1
AFM	173	broad.mit.edu	36	4	74586368	74586368	+	Missense_Mutation	SNP	G	C	C			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74586368G>C	uc003hhb.1	+	c.1647G>C	c.(1645-1647)AGG>AGC	p.R549S		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	549	Albumin 3.				transport					ovary(2)	2	Breast(15;0.00102)													0.416667	35.546352	35.691791	10	14	GG		KEEP	---	---	---	---	capture	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74586368	74586368	362	4	G	C	C	44	44	AFM	C	3	3
PCDHB9	56127	broad.mit.edu	36	5	140548995	140548995	+	Silent	SNP	G	C	C	rs71583634	unknown	TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140548995G>C	uc003liw.1	+	c.1920G>C	c.(1918-1920)CTG>CTC	p.L640L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	640	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0														0.125	14.556713	23.3464	8	56	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140548995	140548995	11969	5	G	C	C	47	47	PCDHB9	C	3	3
NMUR2	56923	broad.mit.edu	36	5	151755287	151755287	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:151755287C>T	uc003luv.2	-	c.863G>A	c.(862-864)CGA>CAA	p.R288Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	288	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)												0.352941	35.093784	35.740405	12	22	CC		KEEP	---	---	---	---	capture	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		Missense_Mutation	SNP	151755287	151755287	10910	5	C	T	T	31	31	NMUR2	T	1	1
LPA	4018	broad.mit.edu	36	6	160927514	160927514	+	Silent	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160927514G>T	uc003qtl.1	-	c.4086C>A	c.(4084-4086)CCC>CCA	p.P1362P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3870	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)			Aminocaproic Acid(DB00513)									0.22449	24.795079	28.217184	11	38	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Silent	SNP	160927514	160927514	9276	6	G	T	T	47	47	LPA	T	3	3
CCR6	1235	broad.mit.edu	36	6	167469955	167469955	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167469955G>A	uc003qvl.1	+	c.247G>A	c.(247-249)GTC>ATC	p.V83I	CCR6_uc010kkm.1_Missense_Mutation_p.V83I|CCR6_uc003qvn.2_Missense_Mutation_p.V83I|CCR6_uc003qvm.2_Missense_Mutation_p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	83	Cytoplasmic (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)								4				0.483146	131.942338	131.962727	43	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	Missense_Mutation	SNP	167469955	167469955	3072	6	G	A	A	40	40	CCR6	A	1	1
BAT4	7918	broad.mit.edu	36	6	31739699	31739699	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31739699T>C	uc003nvn.1	-	c.536A>G	c.(535-537)GAT>GGT	p.D179G	BAT4_uc003nvo.2_Missense_Mutation_p.D179G|BAT4_uc003nvp.2_Missense_Mutation_p.D179G|BAT4_uc003nvq.1_Missense_Mutation_p.D179G|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	179						intracellular	nucleic acid binding				0														0.185185	8.195148	10.678682	5	22	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31739699	31739699	1344	6	T	C	C	50	50	BAT4	C	4	4
SKAP2	8935	broad.mit.edu	36	7	26746040	26746040	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:26746040G>A	uc003syc.1	-	c.376C>T	c.(376-378)CGC>TGC	p.R126C		NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1														0.384615	29.550448	29.851461	10	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26746040	26746040	14851	7	G	A	A	40	40	SKAP2	A	1	1
EGFR	1956	broad.mit.edu	36	7	55200604	55200604	+	Missense_Mutation	SNP	C	G	G			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200604C>G	uc003tqk.1	+	c.1860C>G	c.(1858-1860)TGC>TGG	p.C620W	EGFR_uc003tqi.1_Missense_Mutation_p.C620W|EGFR_uc003tqj.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.1_Missense_Mutation_p.C575W|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	620	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620W(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.222222	29.569538	33.404679	12	42	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200604	55200604	5156	7	C	G	G	26	26	EGFR	G	3	3
USP42	84132	broad.mit.edu	36	7	6155868	6155868	+	Missense_Mutation	SNP	G	T	T			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6155868G>T	uc003sps.2	+	c.1515G>T	c.(1513-1515)TGG>TGT	p.W505C	USP42_uc010kti.1_Missense_Mutation_p.W505C|USP42_uc010kth.1_Missense_Mutation_p.W438C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific protease 42	505					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|pancreas(1)	3		Ovarian(82;0.0423)												0.32381	92.669175	95.58927	34	71	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	Missense_Mutation	SNP	6155868	6155868	17637	7	G	T	T	44	44	USP42	T	3	3
CCDC132	55610	broad.mit.edu	36	7	92770745	92770745	+	Missense_Mutation	SNP	G	C	C			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92770745G>C	uc003umo.1	+	c.1399G>C	c.(1399-1401)GAG>CAG	p.E467Q	CCDC132_uc003ump.1_Missense_Mutation_p.E437Q|CCDC132_uc003umq.1_Non-coding_Transcript|CCDC132_uc003umr.1_Non-coding_Transcript	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	467											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)													0.221239	71.614555	79.696162	25	88	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000302)		Missense_Mutation	SNP	92770745	92770745	2887	7	G	C	C	45	45	CCDC132	C	3	3
TRRAP	8295	broad.mit.edu	36	7	98385062	98385062	+	Silent	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98385062G>A	uc003upp.1	+	c.4854G>A	c.(4852-4854)GGG>GGA	p.G1618G	TRRAP_uc003upq.1_Silent_p.G1600G|TRRAP_uc003upr.1_Silent_p.G1317G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1618					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)									1847				0.203704	23.293103	27.696318	11	43	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Silent	SNP	98385062	98385062	17152	7	G	A	A	43	43	TRRAP	A	2	2
SOX7	83595	broad.mit.edu	36	8	10621128	10621128	+	Missense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10621128G>A	uc003wtf.1	-	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	233					endoderm formation|negative regulation of cell proliferation|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	promoter binding|transcription repressor activity				0														0.526316	65.202346	65.225283	20	18	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(149;0.0732)	Missense_Mutation	SNP	10621128	10621128	15456	8	G	A	A	39	39	SOX7	A	1	1
DOK2	9046	broad.mit.edu	36	8	21823363	21823363	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:21823363C>T	uc003wzx.1	-	c.644G>A	c.(643-645)CGT>CAT	p.R215H	DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	215	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0														0.390244	44.168425	44.607351	16	25	CC		KEEP	---	---	---	---	capture		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	Missense_Mutation	SNP	21823363	21823363	4881	8	C	T	T	19	19	DOK2	T	1	1
KCNU1	157855	broad.mit.edu	36	8	36761181	36761181	+	Missense_Mutation	SNP	T	C	C			TCGA-76-6191-01	TCGA-76-6191-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:36761181T>C	uc010lvw.1	+	c.95T>C	c.(94-96)TTT>TCT	p.F32S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	32	Helical; Name=Segment S0; (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.5	73.101287	73.101287	20	20	TT		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	Missense_Mutation	SNP	36761181	36761181	8398	8	T	C	C	64	64	KCNU1	C	4	4
ZFAND1	79752	broad.mit.edu	36	8	82788800	82788800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-6191-01	TCGA-76-6191-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:82788800G>A	uc003ycj.1	-	c.388C>T	c.(388-390)CGA>TGA	p.R130*	ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding	p.R130*(1)		ovary(1)	1														0.475	58.622276	58.644028	19	21	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	82788800	82788800	18214	8	G	A	A	40	40	ZFAND1	A	5	1
GRIN3A	116443	broad.mit.edu	36	9	103375449	103375449	+	Missense_Mutation	SNP	C	T	T			TCGA-76-6191-01	TCGA-76-6191-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:103375449C>T	uc004bbp.1	-	c.3176G>A	c.(3175-3177)CGG>CAG	p.R1059Q	GRIN3A_uc004bbo.1_Missense_Mutation_p.R134Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1059	Cytoplasmic (Potential).|Potential.				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.388889	107.013401	107.983728	35	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103375449	103375449	7062	9	C	T	T	23	23	GRIN3A	T	1	1
DBC1	1620	broad.mit.edu	36	9	121040812	121040812	+	Silent	SNP	A	G	G			TCGA-76-6191-01	TCGA-76-6191-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:121040812A>G	uc004bkc.2	-	c.627T>C	c.(625-627)AAT>AAC	p.N209N	DBC1_uc004bkd.2_Silent_p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1	209	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.470588	54.900844	54.926124	16	18	AA		KEEP	---	---	---	---	capture			Silent	SNP	121040812	121040812	4418	9	A	G	G	12	12	DBC1	G	4	4
OR6C75	390323	broad.mit.edu	36	12	54045189	54045189	+	Frame_Shift_Del	DEL	T	-	-			TCGA-76-6191-01	TCGA-76-6191-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54045189_54045189delT	uc001sgw.1	+	c.28_28delT	c.(28-30)TTTfs	p.F10fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.36			61	108				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	54045189	54045189	11609	12	T	-	-	56	56	OR6C75	-	5	5
CDH19	28513	broad.mit.edu	36	18	62362956	62362958	+	In_Frame_Del	DEL	CTT	-	-			TCGA-76-6191-01	TCGA-76-6191-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:62362956_62362958delCTT	uc002lkc.1	-	c.938_940delAAG	c.(937-942)GAAGGA>GGA	p.E313del	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc002lkd.2_In_Frame_Del_p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	313	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.46			12	14				---	---	---	---	capture_indel			In_Frame_Del	DEL	62362956	62362958	3233	18	CTT	-	-	24	24	CDH19	-	5	5
DOHH	83475	broad.mit.edu	36	19	3443298	3443298	+	Frame_Shift_Del	DEL	T	-	-			TCGA-76-6191-01	TCGA-76-6191-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3443298_3443298delT	uc002lxs.1	-	c.551_551delA	c.(550-552)AACfs	p.N184fs		NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	184	HEAT-like PBS-type 3.				oxidation-reduction process|peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	3443298	3443298	4879	19	T	-	-	60	60	DOHH	-	5	5
TTLL10	254173	broad.mit.edu	36	1	1106086	1106086	+	Frame_Shift_Del	DEL	G	-	-			TCGA-76-6191-01	TCGA-76-6191-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1106086_1106086delG	uc001acy.1	+	c.738_738delG	c.(736-738)CCGfs	p.P246fs	TTLL10_uc001acz.1_Frame_Shift_Del_p.P173fs	NM_153254	NP_694986	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	246	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	1106086	1106086	17278	1	G	-	-	39	39	TTLL10	-	5	5
