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
ATRNL1	26033	broad.mit.edu	36	10	117051380	117051380	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:117051380G>A	uc001lcg.1	+	c.2655G>A	c.(2653-2655)CCG>CCA	p.P885P		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1	885	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)												0.2	6.616795	7.872137	3	12	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	Silent	SNP	117051380	117051380	1226	10	G	A	A	40	40	ATRNL1	A	1	1
RET	5979	broad.mit.edu	36	10	42926707	42926707	+	Missense_Mutation	SNP	A	T	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:42926707A>T	uc001jal.1	+	c.1310A>T	c.(1309-1311)AAC>ATC	p.N437I	RET_uc001jak.1_Missense_Mutation_p.N437I	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	437	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.516667	92.753903	92.770368	31	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42926707	42926707	13705	10	A	T	T	2	2	RET	T	4	4
KDELC2	143888	broad.mit.edu	36	11	107858050	107858050	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:107858050G>C	uc001pkj.2	-	c.794C>G	c.(793-795)TCT>TGT	p.S265C	KDELC2_uc001pki.2_Missense_Mutation_p.S209C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	265						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)												0.333333	105.208046	107.660902	33	66	GG		KEEP	---	---	---	---	capture		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	Missense_Mutation	SNP	107858050	107858050	8424	11	G	C	C	33	33	KDELC2	C	3	3
ATHL1	80162	broad.mit.edu	36	11	284169	284169	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:284169C>T	uc001lot.2	+	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V	ATHL1_uc001lor.2_Missense_Mutation_p.A346V|ATHL1_uc001lou.2_Missense_Mutation_p.A169V|ATHL1_uc001lov.2_Missense_Mutation_p.A55V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	594					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)												0.408163	54.204571	54.560546	20	29	CC		KEEP	---	---	---	---	capture		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	Missense_Mutation	SNP	284169	284169	1123	11	C	T	T	27	27	ATHL1	T	1	1
CHST1	8534	broad.mit.edu	36	11	45628065	45628065	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:45628065C>T	uc001mys.1	-	c.985G>A	c.(985-987)GCC>ACC	p.A329T	CHST1_uc009ykv.1_Missense_Mutation_p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	329	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			pancreas(1)	1														0.315789	61.779232	64.07004	24	52	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	Missense_Mutation	SNP	45628065	45628065	3531	11	C	T	T	26	26	CHST1	T	2	2
LRP4	4038	broad.mit.edu	36	11	46871158	46871158	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46871158C>T	uc001ndn.2	-	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	547	Extracellular (Potential).|LDL-receptor class B 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1														0.2	6.679673	8.367377	4	16	CC		KEEP	---	---	---	---	capture		Lung(87;0.159)	Missense_Mutation	SNP	46871158	46871158	9332	11	C	T	T	20	20	LRP4	T	2	2
TCN1	6947	broad.mit.edu	36	11	59385682	59385682	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59385682G>C	uc001noj.2	-	c.450C>G	c.(448-450)GAC>GAG	p.D150E		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.307692	38.089489	39.372942	12	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59385682	59385682	16232	11	G	C	C	40	40	TCN1	C	3	3
ALG10B	144245	broad.mit.edu	36	12	37000447	37000447	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37000447G>A	uc001rln.2	+	c.587G>A	c.(586-588)TGT>TAT	p.C196Y	ALG10B_uc001rlo.2_Missense_Mutation_p.C166Y	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	196	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)	2	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)												0.22619	41.990305	47.767534	19	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37000447	37000447	515	12	G	A	A	48	48	ALG10B	A	2	2
MYO1A	4640	broad.mit.edu	36	12	55728284	55728284	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55728284G>A	uc001smw.2	-	c.91C>T	c.(91-93)CGC>TGC	p.R31C	MYO1A_uc009zpd.1_Missense_Mutation_p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|urinary_tract(1)|skin(1)	4														0.470588	71.393425	71.431986	24	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55728284	55728284	10463	12	G	A	A	37	37	MYO1A	A	1	1
SLC17A8	246213	broad.mit.edu	36	12	99311357	99311357	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99311357G>A	uc001tho.1	+	c.553G>A	c.(553-555)GTC>ATC	p.V185I	SLC17A8_uc009ztx.1_Missense_Mutation_p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	185	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3														0.535714	90.849158	90.910944	30	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99311357	99311357	14919	12	G	A	A	40	40	SLC17A8	A	1	1
PCDH8	5100	broad.mit.edu	36	13	52318361	52318361	+	Missense_Mutation	SNP	C	G	G			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:52318361C>G	uc001vhi.1	-	c.2212G>C	c.(2212-2214)GGG>CGG	p.G738R	PCDH8_uc001vhj.1_Missense_Mutation_p.G738R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	738	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)				GBM(36;25 841 9273 49207)								0.192308	6.684765	8.977174	5	21	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;2.19e-08)	Missense_Mutation	SNP	52318361	52318361	11937	13	C	G	G	23	23	PCDH8	G	3	3
CLEC14A	161198	broad.mit.edu	36	14	37794478	37794478	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:37794478G>A	uc001wum.1	-	c.501C>T	c.(499-501)AAC>AAT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)	3	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)													0.296296	17.680525	18.688827	8	19	GG		KEEP	---	---	---	---	capture	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	Silent	SNP	37794478	37794478	3636	14	G	A	A	40	40	CLEC14A	A	1	1
SOS2	6655	broad.mit.edu	36	14	49696023	49696023	+	Silent	SNP	T	C	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49696023T>C	uc001wxs.2	-	c.1728A>G	c.(1726-1728)GTA>GTG	p.V576V	SOS2_uc001wxt.2_Silent_p.V264V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	576					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.294643	104.338008	108.559823	33	79	TT		KEEP	---	---	---	---	capture			Silent	SNP	49696023	49696023	15437	14	T	C	C	53	53	SOS2	C	4	4
C14orf145	145508	broad.mit.edu	36	14	80293009	80293009	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:80293009G>A	uc001xux.1	-	c.2593C>T	c.(2593-2595)CGC>TGC	p.R865C	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	865										central_nervous_system(1)	1										1				0.321429	25.76795	26.559484	9	19	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.0586)	Missense_Mutation	SNP	80293009	80293009	1797	14	G	A	A	37	37	C14orf145	A	1	1
POTEB	339010	broad.mit.edu	36	15	19335864	19335864	+	Missense_Mutation	SNP	G	T	T			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:19335864G>T	uc001ytu.1	-	c.437C>A	c.(436-438)GCT>GAT	p.A146D	POTEB_uc010axv.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	protein expressed in prostate, ovary, testis,	146	ANK 1.										0														0.095238	14.702013	66.515071	30	285	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19335864	19335864	12691	15	G	T	T	34	34	POTEB	T	3	3
SH3GL3	6457	broad.mit.edu	36	15	82028363	82028363	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82028363C>T	uc002bju.1	+	c.290C>T	c.(289-291)ACG>ATG	p.T97M	SH3GL3_uc002bjv.1_Non-coding_Transcript|SH3GL3_uc002bjw.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.1_Missense_Mutation_p.T20M	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|pancreas(1)	2														0.306667	58.861425	61.325835	23	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82028363	82028363	14744	15	C	T	T	19	19	SH3GL3	T	1	1
UNC45A	55898	broad.mit.edu	36	15	89284620	89284620	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89284620G>C	uc002bqg.1	+	c.600G>C	c.(598-600)TTG>TTC	p.L200F	UNC45A_uc002bqd.1_Missense_Mutation_p.L185F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	200					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)													0.348837	99.729814	101.461434	30	56	GG		KEEP	---	---	---	---	capture	Lung(145;0.189)		Missense_Mutation	SNP	89284620	89284620	17546	15	G	C	C	46	46	UNC45A	C	3	3
SEZ6L2	26470	broad.mit.edu	36	16	29792202	29792202	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29792202G>A	uc002duq.2	-	c.2348C>T	c.(2347-2349)ACG>ATG	p.T783M	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|SEZ6L2_uc002dup.2_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.2_Missense_Mutation_p.T713M|SEZ6L2_uc002dus.2_Missense_Mutation_p.T669M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	783	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)	1														0.324324	56.977939	59.003822	24	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29792202	29792202	14633	16	G	A	A	40	40	SEZ6L2	A	1	1
MYH1	4619	broad.mit.edu	36	17	10346924	10346924	+	Silent	SNP	C	A	A			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10346924C>A	uc002gmo.1	-	c.2967G>T	c.(2965-2967)CTG>CTT	p.L989L		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	989	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.336207	106.862096	109.628625	39	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	10346924	10346924	10424	17	C	A	A	21	21	MYH1	A	3	3
SLFN13	146857	broad.mit.edu	36	17	30791858	30791858	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30791858G>A	uc002hjk.1	-	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	SLFN13_uc002hjl.1_Missense_Mutation_p.R855W|SLFN13_uc010ctt.1_Missense_Mutation_p.R537W|SLFN13_uc002hjm.1_Missense_Mutation_p.R524W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	855						intracellular	ATP binding			ovary(1)|breast(1)	2														0.371134	105.804792	107.207875	36	61	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Missense_Mutation	SNP	30791858	30791858	15233	17	G	A	A	39	39	SLFN13	A	1	1
OR4D2	124538	broad.mit.edu	36	17	53602205	53602205	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53602205C>T	uc002ivo.1	+	c.190C>T	c.(190-192)CGA>TGA	p.R64*		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.364407	124.692799	126.600404	43	75	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53602205	53602205	11463	17	C	T	T	23	23	OR4D2	T	5	1
MC5R	4161	broad.mit.edu	36	18	13816447	13816447	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:13816447C>T	uc002kso.1	+	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	228	Cytoplasmic (Potential).			ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)	3														0.328244	233.087566	239.877294	86	176	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13816447	13816447	9756	18	C	T	T	27	27	MC5R	T	1	1
EPB41L3	23136	broad.mit.edu	36	18	5385100	5385100	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5385100A>G	uc002kmt.1	-	c.3119T>C	c.(3118-3120)GTC>GCC	p.V1040A	EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010dkr.1_Missense_Mutation_p.V432A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1040	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.214286	18.442758	21.622634	9	33	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5385100	5385100	5347	18	A	G	G	10	10	EPB41L3	G	4	4
CDH19	28513	broad.mit.edu	36	18	62369325	62369325	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:62369325G>A	uc002lkc.1	-	c.761C>T	c.(760-762)CCT>CTT	p.P254L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc002lkd.2_Missense_Mutation_p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	254	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.538462	22.625362	22.642018	7	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62369325	62369325	3233	18	G	A	A	35	35	CDH19	A	2	2
NFIX	4784	broad.mit.edu	36	19	13050498	13050498	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13050498C>T	uc002mwd.1	+	c.1027C>T	c.(1027-1029)CGC>TGC	p.R343C	NFIX_uc002mwe.1_Missense_Mutation_p.R335C|NFIX_uc002mwf.1_Intron|NFIX_uc002mwg.1_Missense_Mutation_p.R342C|NFIX_uc002mwh.1_Missense_Mutation_p.R296C	NM_002501	NP_002492	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription	343					DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)	1														0.428571	8.924012	8.955129	3	4	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		Missense_Mutation	SNP	13050498	13050498	10774	19	C	T	T	27	27	NFIX	T	1	1
CYP4F22	126410	broad.mit.edu	36	19	15509390	15509390	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15509390C>T	uc002nbh.2	+	c.466C>T	c.(466-468)CGT>TGT	p.R156C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	156					oxidation-reduction process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity			pancreas(1)	1														0.142857	14.239154	21.978094	9	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15509390	15509390	4354	19	C	T	T	23	23	CYP4F22	T	1	1
UPF1	5976	broad.mit.edu	36	19	18829250	18829250	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18829250G>A	uc002nkg.1	+	c.2123G>A	c.(2122-2124)CGC>CAC	p.R708H	UPF1_uc002nkf.1_Missense_Mutation_p.R697H|UPF1_uc002nkh.1_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1														0.375	40.813696	41.362767	15	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18829250	18829250	17563	19	G	A	A	38	38	UPF1	A	1	1
ZNF676	163223	broad.mit.edu	36	19	22155567	22155567	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:22155567G>A	uc002nqs.1	-	c.792C>T	c.(790-792)AGC>AGT	p.S264S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	264	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.190476	8.287552	10.168585	4	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	22155567	22155567	18678	19	G	A	A	38	38	ZNF676	A	1	1
FAM187B	148109	broad.mit.edu	36	19	40410854	40410854	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40410854G>A	uc002nyk.1	-	c.570C>T	c.(568-570)AGC>AGT	p.S190S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	190	Extracellular (Potential).					integral to membrane				ovary(2)	2														0.375	41.519141	42.066157	15	25	GG		KEEP	---	---	---	---	capture			Silent	SNP	40410854	40410854	5723	19	G	A	A	42	42	FAM187B	A	2	2
RYR1	6261	broad.mit.edu	36	19	43743733	43743733	+	Silent	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43743733C>T	uc002oit.1	+	c.12423C>T	c.(12421-12423)AAC>AAT	p.N4141N	RYR1_uc002oiu.1_Silent_p.N4136N|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4141					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)									0.241379	32.021952	35.560992	14	44	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43743733	43743733	14248	19	C	T	T	19	19	RYR1	T	1	1
ZNF613	79898	broad.mit.edu	36	19	57140734	57140734	+	Missense_Mutation	SNP	G	T	T			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57140734G>T	uc002pxz.1	+	c.1786G>T	c.(1786-1788)GTA>TTA	p.V596L	ZNF613_uc002pya.1_Missense_Mutation_p.V560L	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)												0.444444	8.990087	9.015381	4	5	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	Missense_Mutation	SNP	57140734	57140734	18633	19	G	T	T	36	36	ZNF613	T	3	3
ZNF135	7694	broad.mit.edu	36	19	63270942	63270942	+	Silent	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63270942C>T	uc002qre.1	+	c.1278C>T	c.(1276-1278)ACC>ACT	p.T426T	ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.1_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)												0.1875	13.33269	16.257579	6	26	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	Silent	SNP	63270942	63270942	18316	19	C	T	T	23	23	ZNF135	T	1	1
APH1A	51107	broad.mit.edu	36	1	148507803	148507803	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148507803A>G	uc001eua.1	-	c.32T>C	c.(31-33)TTC>TCC	p.F11S	APH1A_uc001ety.1_Missense_Mutation_p.F11S|APH1A_uc001etz.1_Missense_Mutation_p.F11S|APH1A_uc001eub.1_5'UTR	NM_016022	NP_057106	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	11	Helical; Name=1; (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)													0.75	8.727498	8.951395	3	1	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148507803	148507803	781	1	A	G	G	9	9	APH1A	G	4	4
OR6N2	81442	broad.mit.edu	36	1	157013173	157013173	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157013173G>A	uc001fsy.1	-	c.877C>T	c.(877-879)CGT>TGT	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)													0.333333	48.258235	49.512749	17	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157013173	157013173	11617	1	G	A	A	37	37	OR6N2	A	1	1
GPR25	2848	broad.mit.edu	36	1	199109466	199109466	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199109466G>A	uc001gvn.1	+	c.678G>A	c.(676-678)TCG>TCA	p.S226S		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	226	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1														0.481481	33.725402	33.735216	13	14	GG		KEEP	---	---	---	---	capture			Silent	SNP	199109466	199109466	6958	1	G	A	A	38	38	GPR25	A	1	1
GRHL3	57822	broad.mit.edu	36	1	24541971	24541971	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24541971G>A	uc001biy.1	+	c.1303G>A	c.(1303-1305)GTC>ATC	p.V435I	GRHL3_uc001bix.1_Missense_Mutation_p.V430I|GRHL3_uc001biz.1_Missense_Mutation_p.V337I	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	430					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)												0.302326	97.114995	101.597442	39	90	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	Missense_Mutation	SNP	24541971	24541971	7043	1	G	A	A	40	40	GRHL3	A	1	1
YTHDF2	51441	broad.mit.edu	36	1	28941600	28941600	+	Silent	SNP	G	A	A	rs11553689	unknown	TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:28941600G>A	uc001brc.1	+	c.231G>A	c.(229-231)ACG>ACA	p.T77T	YTHDF2_uc001brd.1_Silent_p.T74T|YTHDF2_uc001bre.1_Silent_p.T27T	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	77					humoral immune response					ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)												0.290698	134.108793	140.844167	50	122	GG		KEEP	---	---	---	---	capture		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	Silent	SNP	28941600	28941600	18082	1	G	A	A	39	39	YTHDF2	A	1	1
BRDT	676	broad.mit.edu	36	1	92217727	92217727	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:92217727C>T	uc001dok.2	+	c.1112C>T	c.(1111-1113)ACG>ATG	p.T371M	BRDT_uc001dol.2_Missense_Mutation_p.T371M|BRDT_uc009wdf.1_Missense_Mutation_p.T298M|BRDT_uc001dom.2_Missense_Mutation_p.T371M	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(1)|ovary(1)|lung(1)	3		all_lung(203;0.00531)|Lung NSC(277;0.0194)								576				0.370968	61.166913	62.088969	23	39	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0228)|Epithelial(280;0.133)	Missense_Mutation	SNP	92217727	92217727	1539	1	C	T	T	19	19	BRDT	T	1	1
HNF4A	3172	broad.mit.edu	36	20	42486156	42486156	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42486156G>A	uc002xma.1	+	c.977G>A	c.(976-978)CGC>CAC	p.R326H	HNF4A_uc002xlt.1_Missense_Mutation_p.R304H|HNF4A_uc002xlu.1_Missense_Mutation_p.R304H|HNF4A_uc002xlv.1_Missense_Mutation_p.R304H|HNF4A_uc002xly.1_Missense_Mutation_p.R326H|HNF4A_uc002xlz.1_Missense_Mutation_p.R326H|HNF4A_uc010ggq.1_Missense_Mutation_p.R319H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	326					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)				Colon(79;2 1269 8820 14841 52347)								0.35	17.964079	18.340832	7	13	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Missense_Mutation	SNP	42486156	42486156	7545	20	G	A	A	38	38	HNF4A	A	1	1
SEMG1	6406	broad.mit.edu	36	20	43270466	43270466	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43270466C>T	uc002xni.1	+	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	SEMG1_uc002xnh.1_Intron|SEMG1_uc002xnj.1_Missense_Mutation_p.R312C|SEMG2_uc010ggz.1_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I isoform a preproprotein	372	58 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.234043	26.000752	29.043184	11	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43270466	43270466	14530	20	C	T	T	19	19	SEMG1	T	1	1
RSPO4	343637	broad.mit.edu	36	20	892738	892738	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:892738G>A	uc002wej.1	-	c.435C>T	c.(433-435)GGC>GGT	p.G145G	RSPO4_uc002wek.1_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	145	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding				0														0.15625	6.986382	10.572039	5	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	892738	892738	14192	20	G	A	A	38	38	RSPO4	A	1	1
RIPK4	54101	broad.mit.edu	36	21	42034226	42034226	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42034226G>A	uc002yzn.1	-	c.2196C>T	c.(2194-2196)GAC>GAT	p.D732D		NM_020639	NP_065690	Q9H4D1	Q9H4D1_HUMAN	ankyrin repeat domain 3	732					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7										268				0.179775	30.196734	38.666292	16	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	42034226	42034226	13860	21	G	A	A	40	40	RIPK4	A	1	1
C21orf58	54058	broad.mit.edu	36	21	46562542	46562542	+	Missense_Mutation	SNP	C	A	A			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46562542C>A	uc002zjf.1	-	c.121G>T	c.(121-123)GCC>TCC	p.A41S	C21orf58_uc002ziz.2_5'UTR|C21orf58_uc002zja.2_5'UTR|C21orf58_uc002zjc.1_5'UTR|C21orf58_uc010gqj.1_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	41										pancreas(1)	1	Breast(49;0.112)													0.375	55.134139	55.911556	21	35	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.239)	Missense_Mutation	SNP	46562542	46562542	2209	21	C	A	A	26	26	C21orf58	A	3	3
DIP2A	23181	broad.mit.edu	36	21	46778995	46778995	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46778995C>T	uc002zjo.1	+	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	DIP2A_uc002zjn.1_Missense_Mutation_p.R537W|DIP2A_uc002zjl.1_Missense_Mutation_p.R537W|DIP2A_uc002zjm.1_Missense_Mutation_p.R537W|DIP2A_uc010gql.1_Missense_Mutation_p.R494W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	DIP2-like protein isoform a	537					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)													0.310345	24.073549	24.997666	9	20	CC		KEEP	---	---	---	---	capture		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	Missense_Mutation	SNP	46778995	46778995	4706	21	C	T	T	23	23	DIP2A	T	1	1
APOB	338	broad.mit.edu	36	2	21086962	21086962	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:21086962C>T	uc002red.1	-	c.6283G>A	c.(6283-6285)GTA>ATA	p.V2095I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2095	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.323529	30.01321	30.953112	11	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21086962	21086962	796	2	C	T	T	19	19	APOB	T	1	1
NPHP3	27031	broad.mit.edu	36	3	133923653	133923653	+	Silent	SNP	C	G	G			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:133923653C>G	uc003epe.1	-	c.237G>C	c.(235-237)TCG>TCC	p.S79S	NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	79					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1														0.428571	7.414641	7.499436	6	8	CC		KEEP	---	---	---	---	capture			Silent	SNP	133923653	133923653	10984	3	C	G	G	19	19	NPHP3	G	3	3
AADACL2	344752	broad.mit.edu	36	3	152958029	152958029	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152958029G>A	uc003ezc.1	+	c.1097G>A	c.(1096-1098)AGG>AAG	p.R366K	AADACL2_uc010hvn.1_Missense_Mutation_p.R175K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	388						extracellular region|integral to membrane	carboxylesterase activity				0														0.25	14.937436	16.301693	6	18	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Missense_Mutation	SNP	152958029	152958029	12	3	G	A	A	35	35	AADACL2	A	2	2
PIK3CA	5290	broad.mit.edu	36	3	180434846	180434846	+	Nonstop_Mutation	SNP	A	G	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180434846A>G	uc003fjk.1	+	c.3207A>G	c.(3205-3207)TGA>TGG	p.*1069W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1069					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.*1069_*1069insWKDN*(3)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)					Colon(199;1504 1750 3362 26421 31210 32040)		57	p.*1069W(IGROV1-Tumor)|p.*1069W(KYSE70-Tumor)	621	TCGA GBM(8;5.49e-07)			0.384615	17.372521	17.524085	5	8	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Nonstop_Mutation	SNP	180434846	180434846	12337	3	A	G	G	9	9	PIK3CA	G	5	4
DNAH12	201625	broad.mit.edu	36	3	57468545	57468545	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:57468545G>A	uc003diu.1	-	c.762C>T	c.(760-762)AAC>AAT	p.N254N		NM_198564	NP_940966	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2	254	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)	1														0.372093	45.593479	46.2096	16	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	57468545	57468545	4782	3	G	A	A	40	40	DNAH12	A	1	1
OR5H6	79295	broad.mit.edu	36	3	99466215	99466215	+	Missense_Mutation	SNP	A	T	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99466215A>T	uc003dsi.1	+	c.397A>T	c.(397-399)ACA>TCA	p.T133S		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	133	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2														0.147059	7.352022	11.42232	5	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99466215	99466215	11573	3	A	T	T	2	2	OR5H6	T	4	4
TRAM1L1	133022	broad.mit.edu	36	4	118224939	118224939	+	Missense_Mutation	SNP	T	G	G			TCGA-32-1979-01	TCGA-32-1979-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:118224939T>G	uc003ibv.2	-	c.1059A>C	c.(1057-1059)GAA>GAC	p.E353D		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	353	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1														0.315385	131.04738	134.978234	41	89	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118224939	118224939	16996	4	T	G	G	64	64	TRAM1L1	G	4	4
TKTL2	84076	broad.mit.edu	36	4	164614130	164614130	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:164614130G>A	uc003iqp.2	-	c.207C>T	c.(205-207)AAC>AAT	p.N69N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	69						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.321429	24.065143	24.858175	9	19	GG		KEEP	---	---	---	---	capture			Silent	SNP	164614130	164614130	16465	4	G	A	A	40	40	TKTL2	A	1	1
FRYL	285527	broad.mit.edu	36	4	48231317	48231317	+	Splice_Site_SNP	SNP	A	C	C			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:48231317A>C	uc003gyh.1	-	c.6705_splice	c.e49+1	p.Q2235_splice	FRYL_uc003gyg.1_Splice_Site_SNP_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_SNP_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_SNP_p.Q530_splice	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.238095	14.165297	15.480333	5	16	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	48231317	48231317	6314	4	A	C	C	6	6	FRYL	C	5	4
UGT2B28	54490	broad.mit.edu	36	4	70195076	70195076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70195076G>A	uc003hej.1	+	c.1550G>A	c.(1549-1551)TGG>TAG	p.W517*	UGT2B28_uc010ihr.1_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	517	Helical; (Potential).				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0					Flunitrazepam(DB01544)									0.384615	14.871493	15.023391	5	8	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	70195076	70195076	17518	4	G	A	A	47	47	UGT2B28	A	5	2
ANKRD17	26057	broad.mit.edu	36	4	74178761	74178761	+	Silent	SNP	T	C	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74178761T>C	uc003hgp.1	-	c.5226A>G	c.(5224-5226)GGA>GGG	p.G1742G	ANKRD17_uc003hgo.1_Silent_p.G1629G|ANKRD17_uc003hgq.1_Silent_p.G1491G|ANKRD17_uc003hgr.1_Silent_p.G1741G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1742	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)													0.338462	71.058268	72.544526	22	43	TT		KEEP	---	---	---	---	capture	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Silent	SNP	74178761	74178761	649	4	T	C	C	62	62	ANKRD17	C	4	4
P4HA2	8974	broad.mit.edu	36	5	131572772	131572772	+	Silent	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131572772C>T	uc003kwh.1	-	c.861G>A	c.(859-861)AGG>AGA	p.R287R	P4HA2_uc003kwg.1_Silent_p.R287R|P4HA2_uc003kwi.1_Silent_p.R287R|P4HA2_uc003kwj.1_Silent_p.R287R|P4HA2_uc003kwk.1_Silent_p.R287R|P4HA2_uc003kwl.1_Silent_p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	287					oxidation-reduction process	endoplasmic reticulum lumen	electron carrier activity|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 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)			L-Proline(DB00172)|Succinic acid(DB00139)	Esophageal Squamous(68;117 1135 17362 19256 34242)								0.291429	135.059365	141.879648	51	124	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	131572772	131572772	11770	5	C	T	T	22	22	P4HA2	T	2	2
PCDH12	51294	broad.mit.edu	36	5	141316523	141316523	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141316523G>C	uc003llx.1	-	c.1078C>G	c.(1078-1080)CCA>GCA	p.P360A		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	360	Cadherin 4.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)												0.292683	71.891631	75.033055	24	58	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141316523	141316523	11930	5	G	C	C	42	42	PCDH12	C	3	3
PDE6A	5145	broad.mit.edu	36	5	149246105	149246105	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149246105G>A	uc003lrg.2	-	c.1754C>T	c.(1753-1755)ACG>ATG	p.T585M		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A, alpha subunit	585					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.205128	16.476569	19.623881	8	31	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Missense_Mutation	SNP	149246105	149246105	12066	5	G	A	A	40	40	PDE6A	A	1	1
FAM71B	153745	broad.mit.edu	36	5	156522772	156522772	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:156522772G>A	uc003lwn.1	-	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)												0.294118	24.033046	25.326726	10	24	GG		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	156522772	156522772	5831	5	G	A	A	38	38	FAM71B	A	1	1
GABRB2	2561	broad.mit.edu	36	5	160653692	160653692	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160653692C>T	uc003lys.1	-	c.1513G>A	c.(1513-1515)GTC>ATC	p.V505I	GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I|GABRB2_uc010jiu.1_Missense_Mutation_p.V404I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	505	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.244444	25.60146	28.280226	11	34	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	160653692	160653692	6418	5	C	T	T	19	19	GABRB2	T	1	1
UGT3A2	167127	broad.mit.edu	36	5	36071786	36071786	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36071786G>A	uc003jjz.1	-	c.1343C>T	c.(1342-1344)CCG>CTG	p.P448L	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	448	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.259259	17.013766	18.430446	7	20	GG		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36071786	36071786	17522	5	G	A	A	39	39	UGT3A2	A	1	1
HCN1	348980	broad.mit.edu	36	5	45339566	45339566	+	Nonsense_Mutation	SNP	G	A	A	rs35229491	unknown	TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:45339566G>A	uc003jok.1	-	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	504	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.205128	16.169784	19.327804	8	31	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45339566	45339566	7278	5	G	A	A	40	40	HCN1	A	5	1
KIAA1244	57221	broad.mit.edu	36	6	138572831	138572831	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138572831C>T	uc003qhu.2	+	c.311C>T	c.(310-312)ACG>ATG	p.T104M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	104					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.407407	65.043834	65.44704	22	32	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138572831	138572831	8526	6	C	T	T	19	19	KIAA1244	T	1	1
IGF2R	3482	broad.mit.edu	36	6	160421262	160421262	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160421262A>G	uc003qta.1	+	c.5798A>G	c.(5797-5799)TAC>TGC	p.Y1933C		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1933	13.|Lumenal (Potential).|Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)												0.32	75.078997	77.235061	24	51	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Missense_Mutation	SNP	160421262	160421262	7877	6	A	G	G	14	14	IGF2R	G	4	4
DEF6	50619	broad.mit.edu	36	6	35388228	35388228	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:35388228C>T	uc003okk.1	+	c.595C>T	c.(595-597)CGG>TGG	p.R199W	DEF6_uc010jvs.1_Missense_Mutation_p.R199W|DEF6_uc010jvt.1_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	199						cytoplasm|nucleus|plasma membrane					0														0.37037	56.913363	57.660352	20	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35388228	35388228	4557	6	C	T	T	23	23	DEF6	T	1	1
MOCS1	4337	broad.mit.edu	36	6	39985590	39985590	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39985590C>T	uc003opb.2	-	c.1069G>A	c.(1069-1071)GCT>ACT	p.A357T	MOCS1_uc003opa.2_Missense_Mutation_p.A357T|MOCS1_uc003opc.2_Missense_Mutation_p.A357T|MOCS1_uc003opd.2_Missense_Mutation_p.A357T|MOCS1_uc003ope.2_Missense_Mutation_p.A270T	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)								0.415584	91.983221	92.462955	32	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39985590	39985590	10081	6	C	T	T	26	26	MOCS1	T	2	2
OR6V1	346517	broad.mit.edu	36	7	142459583	142459583	+	Silent	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142459583C>T	uc003wcd.1	+	c.24C>T	c.(22-24)TCC>TCT	p.S8S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.320856	171.942325	177.269089	60	127	CC		KEEP	---	---	---	---	capture			Silent	SNP	142459583	142459583	11622	7	C	T	T	23	23	OR6V1	T	1	1
CNTNAP2	26047	broad.mit.edu	36	7	146890170	146890170	+	Silent	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146890170C>T	uc003weu.1	+	c.1785C>T	c.(1783-1785)TAC>TAT	p.Y595Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	595	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.178571	9.756904	12.480849	5	23	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Silent	SNP	146890170	146890170	3785	7	C	T	T	19	19	CNTNAP2	T	1	1
IKZF1	10320	broad.mit.edu	36	7	50435423	50435423	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50435423G>A	uc003tow.2	+	c.1164G>A	c.(1162-1164)GCG>GCA	p.A388A	IKZF1_uc003tox.2_Silent_p.A346A|IKZF1_uc003toy.2_Silent_p.A346A|IKZF1_uc003toz.2_Silent_p.A358A|IKZF1_uc010kyx.1_Silent_p.A128A|IKZF1_uc003tpa.2_Silent_p.A130A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	388					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(25)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)							p.A388A(WM88-Tumor)	226				0.25	7.419885	8.101212	3	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	50435423	50435423	7915	7	G	A	A	40	40	IKZF1	A	1	1
EGFR	1956	broad.mit.edu	36	7	55189259	55189259	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55189259A>G	uc003tqk.1	+	c.809A>G	c.(808-810)TAC>TGC	p.Y270C	EGFR_uc003tqh.1_Missense_Mutation_p.Y270C|EGFR_uc003tqi.1_Missense_Mutation_p.Y270C|EGFR_uc003tqj.1_Missense_Mutation_p.Y270C|EGFR_uc010kzg.1_Missense_Mutation_p.Y225C	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	270	Approximate.|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.V30_R297>G(10)		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)			0.075372	9.806371	183.879794	71	871	AA		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	55189259	55189259	5156	7	A	G	G	14	14	EGFR	G	4	4
AZGP1	563	broad.mit.edu	36	7	99403756	99403756	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99403756G>A	uc003ush.1	-	c.571C>T	c.(571-573)CGG>TGG	p.R191W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	191					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)													0.280374	76.513231	81.147966	30	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99403756	99403756	1260	7	G	A	A	38	38	AZGP1	A	1	1
OXR1	55074	broad.mit.edu	36	8	107792075	107792075	+	Missense_Mutation	SNP	G	T	T			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:107792075G>T	uc003ymh.1	+	c.1410G>T	c.(1408-1410)TTG>TTT	p.L470F	OXR1_uc010mcg.1_Intron|OXR1_uc003ymj.1_Missense_Mutation_p.L256F|OXR1_uc010mch.1_Missense_Mutation_p.L256F	NM_181354	NP_851999	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 2	559					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0														0.333333	8.937675	9.151315	3	6	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		Missense_Mutation	SNP	107792075	107792075	11747	8	G	T	T	48	48	OXR1	T	3	3
ST3GAL1	6482	broad.mit.edu	36	8	134557288	134557288	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134557288G>C	uc003yul.1	-	c.162C>G	c.(160-162)ATC>ATG	p.I54M	ST3GAL1_uc003yum.1_Missense_Mutation_p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	54	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.302326	41.659284	43.158835	13	30	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.00721)		Missense_Mutation	SNP	134557288	134557288	15732	8	G	C	C	45	45	ST3GAL1	C	3	3
PRKDC	5591	broad.mit.edu	36	8	48968431	48968431	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:48968431G>A	uc003xqi.1	-	c.3668C>T	c.(3667-3669)ACC>ATC	p.T1223I	PRKDC_uc003xqj.1_Missense_Mutation_p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1223					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.285714	14.939877	15.806166	6	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48968431	48968431	12964	8	G	A	A	44	44	PRKDC	A	2	2
PENK	5179	broad.mit.edu	36	8	57516504	57516504	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:57516504G>A	uc003xsz.1	-	c.685C>T	c.(685-687)CGG>TGG	p.R229W	PENK_uc003xta.2_Missense_Mutation_p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	229					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)	3		all_lung(136;0.229)												0.280899	64.142271	67.979579	25	64	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000873)|all cancers(17;0.0069)		Missense_Mutation	SNP	57516504	57516504	12148	8	G	A	A	40	40	PENK	A	1	1
KIAA0368	23392	broad.mit.edu	36	9	113232654	113232654	+	Silent	SNP	T	C	C			TCGA-32-1979-01	TCGA-32-1979-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113232654T>C	uc004bfe.1	-	c.1458A>G	c.(1456-1458)ACA>ACG	p.T486T	KIAA0368_uc010muc.1_Silent_p.T308T	NM_001080398	NP_001073867			KIAA0368 protein												0														0.333333	6.348196	6.495701	2	4	TT		KEEP	---	---	---	---	capture			Silent	SNP	113232654	113232654	8478	9	T	C	C	63	63	KIAA0368	C	4	4
FAM129B	64855	broad.mit.edu	36	9	129312273	129312273	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129312273G>A	uc004brh.1	-	c.1134C>T	c.(1132-1134)AAC>AAT	p.N378N	FAM129B_uc004bri.1_Silent_p.N365N|FAM129B_uc004brj.2_Silent_p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	365							protein binding				0														0.37037	78.679202	79.892656	30	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	129312273	129312273	5634	9	G	A	A	40	40	FAM129B	A	1	1
BNC2	54796	broad.mit.edu	36	9	16426735	16426735	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1979-01	TCGA-32-1979-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:16426735C>T	uc003zml.1	-	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H	BNC2_uc003zmm.2_Missense_Mutation_p.R444H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc010mii.1_Missense_Mutation_p.R251H|BNC2_uc003zmi.1_Missense_Mutation_p.R251H|BNC2_uc003zmj.1_Missense_Mutation_p.R251H|BNC2_uc003zmk.1_Non-coding_Transcript|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.569767	149.479709	149.843685	49	37	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;9.01e-08)	Missense_Mutation	SNP	16426735	16426735	1500	9	C	T	T	19	19	BNC2	T	1	1
C9orf64	84267	broad.mit.edu	36	9	85749623	85749623	+	Missense_Mutation	SNP	A	T	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85749623A>T	uc004anb.1	-	c.699T>A	c.(697-699)AGT>AGA	p.S233R	C9orf64_uc004anc.1_Missense_Mutation_p.S92R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	233											0														0.313953	68.670349	71.33363	27	59	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85749623	85749623	2605	9	A	T	T	14	14	C9orf64	T	4	4
COL4A6	1288	broad.mit.edu	36	X	107317855	107317855	+	Missense_Mutation	SNP	A	T	T			TCGA-32-1979-01	TCGA-32-1979-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107317855A>T	uc004enw.2	-	c.1649T>A	c.(1648-1650)CTC>CAC	p.L550H	COL4A6_uc004env.2_Missense_Mutation_p.L549H|COL4A6_uc010npk.1_Missense_Mutation_p.L549H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	550	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.113208	11.120307	26.775426	12	94	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107317855	107317855	3833	23	A	T	T	11	11	COL4A6	T	4	4
DCAF12L1	139170	broad.mit.edu	36	X	125513040	125513040	+	Silent	SNP	G	A	A			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:125513040G>A	uc004eul.1	-	c.1233C>T	c.(1231-1233)CTC>CTT	p.L411L	DCAF12L1_uc010nqz.1_Silent_p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	WD repeat domain 40B	411										skin(3)	3														0.415842	114.631147	115.25507	42	59	GG		KEEP	---	---	---	---	capture			Silent	SNP	125513040	125513040	4435	23	G	A	A	45	45	DCAF12L1	A	2	2
ZMYM3	9203	broad.mit.edu	36	X	70386218	70386218	+	Silent	SNP	G	T	T			TCGA-32-1979-01	TCGA-32-1979-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70386218G>T	uc004dzh.1	-	c.1288C>A	c.(1288-1290)CGG>AGG	p.R430R	ZMYM3_uc004dzi.1_Silent_p.R430R|ZMYM3_uc004dzj.1_Silent_p.R430R|ZMYM3_uc004dzk.2_Silent_p.R430R|ZMYM3_uc004dzl.2_Silent_p.R430R|ZMYM3_uc004dzm.2_Silent_p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	430	MYM-type 3.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)													0.315789	17.143511	17.716784	6	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	70386218	70386218	18292	23	G	T	T	39	39	ZMYM3	T	3	3
MKI67	4288	broad.mit.edu	36	10	129791318	129791319	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-32-1979-01	TCGA-32-1979-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129791318_129791319delGA	uc001lke.1	-	c.8775_8776delTC	c.(8773-8778)TCTCAAfs	p.S2925fs	MKI67_uc001lkf.1_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2925_2926	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.40			56	84				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	129791318	129791319	9988	10	GA	-	-	45	45	MKI67	-	5	5
ATP13A1	57130	broad.mit.edu	36	19	19619484	19619484	+	Frame_Shift_Del	DEL	C	-	-			TCGA-32-1979-01	TCGA-32-1979-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19619484_19619484delC	uc002nnh.2	-	c.2717_2717delG	c.(2716-2718)GGCfs	p.G906fs	ATP13A1_uc002nne.1_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.2_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.1_Frame_Shift_Del_p.G788fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	906	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.58			18	13				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	19619484	19619484	1142	19	C	-	-	26	26	ATP13A1	-	5	5
ARPC2	10109	broad.mit.edu	36	2	218811736	218811737	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-32-1979-01	TCGA-32-1979-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218811736_218811737delTT	uc002vhd.1	+	c.373_374delTT	c.(373-375)TTTfs	p.F125fs	ARPC2_uc002vhe.1_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.1_Frame_Shift_Del_p.F11fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	125					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton				0		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)										0.34			42	81				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	218811736	218811737	989	2	TT	-	-	56	56	ARPC2	-	5	5
