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
C11orf63	79864	broad.mit.edu	36	11	122261930	122261930	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122261930A>G	uc001pym.1	+	c.163A>G	c.(163-165)ATG>GTG	p.M55V	C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	55										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)												0.358382	209.611904	212.663237	62	111	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	Missense_Mutation	SNP	122261930	122261930	1693	11	A	G	G	16	16	C11orf63	G	4	4
SLCO2B1	11309	broad.mit.edu	36	11	74582032	74582032	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74582032G>A	uc001owb.1	+	c.1197G>A	c.(1195-1197)GAG>GAA	p.E399E	SLCO2B1_uc001owc.1_Silent_p.E172E|SLCO2B1_uc001owd.1_Silent_p.E377E	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	399	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.45082	155.640718	155.891483	55	67	GG		KEEP	---	---	---	---	capture			Silent	SNP	74582032	74582032	15224	11	G	A	A	34	34	SLCO2B1	A	2	2
ATP5B	506	broad.mit.edu	36	12	55320161	55320161	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55320161G>A	uc001slr.1	-	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	386					angiogenesis|ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1														0.142857	23.753309	36.660577	15	90	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55320161	55320161	1167	12	G	A	A	37	37	ATP5B	A	1	1
NALCN	259232	broad.mit.edu	36	13	100540236	100540236	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:100540236C>T	uc001vox.1	-	c.3352G>A	c.(3352-3354)GTG>ATG	p.V1118M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1118	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.386712	656.871282	663.479383	227	360	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100540236	100540236	10544	13	C	T	T	18	18	NALCN	T	2	2
KIAA0586	9786	broad.mit.edu	36	14	58024520	58024520	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:58024520A>C	uc001xdu.2	+	c.3422A>C	c.(3421-3423)GAC>GCC	p.D1141A	KIAA0586_uc001xdt.2_Missense_Mutation_p.D1112A|KIAA0586_uc001xdv.2_Missense_Mutation_p.D1080A	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1080										ovary(1)	1														0.444444	9.712531	9.733858	4	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58024520	58024520	8493	14	A	C	C	10	10	KIAA0586	C	4	4
HERC1	8925	broad.mit.edu	36	15	61757178	61757178	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:61757178C>T	uc002amp.1	-	c.6989G>A	c.(6988-6990)CGC>CAC	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	guanine nucleotide exchange factor p532	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.261719	169.618922	182.76522	67	189	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61757178	61757178	7340	15	C	T	T	27	27	HERC1	T	1	1
LCAT	3931	broad.mit.edu	36	16	66534343	66534343	+	Missense_Mutation	SNP	C	T	T	rs28940886	unknown	TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66534343C>T	uc002euy.1	-	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	117					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)												0.368098	160.05877	162.550081	60	103	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	Missense_Mutation	SNP	66534343	66534343	8981	16	C	T	T	27	27	LCAT	T	1	1
KRT17	3872	broad.mit.edu	36	17	37034199	37034199	+	Missense_Mutation	SNP	C	T	T	rs2229512	by-frequency	TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37034199C>T	uc002hxh.1	-	c.89G>A	c.(88-90)CGG>CAG	p.R30Q		NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	30	Head.			R -> Q (in Ref. 4; AL353997/AC022596).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				Pancreas(92;1242 2086 39193 50508)								0.432432	46.301072	46.446575	16	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37034199	37034199	8769	17	C	T	T	23	23	KRT17	T	1	1
SP6	80320	broad.mit.edu	36	17	43280366	43280366	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43280366G>A	uc002img.1	-	c.429C>T	c.(427-429)GGC>GGT	p.G143G	SP6_uc002imh.1_Silent_p.G143G|SP6_uc010dbb.1_Silent_p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.357143	28.686566	29.170419	10	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	43280366	43280366	15468	17	G	A	A	42	42	SP6	A	2	2
OTOP2	92736	broad.mit.edu	36	17	70438018	70438018	+	Silent	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70438018C>T	uc002jmg.1	+	c.693C>T	c.(691-693)GCC>GCT	p.A231A		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	231						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)													0.36478	347.75487	352.852229	116	202	CC		KEEP	---	---	---	---	capture			Silent	SNP	70438018	70438018	11718	17	C	T	T	23	23	OTOP2	T	1	1
PRPSAP1	5635	broad.mit.edu	36	17	71837749	71837749	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71837749A>G	uc002jre.1	-	c.518T>C	c.(517-519)ATT>ACT	p.I173T		NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	173					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1														0.293436	237.809462	247.694058	76	183	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71837749	71837749	13024	17	A	G	G	4	4	PRPSAP1	G	4	4
TP53	7157	broad.mit.edu	36	17	7517866	7517866	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517866C>A	uc002gim.2	-	c.797G>T	c.(796-798)GGA>GTA	p.G266V	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.G266E(41)|p.G266V(30)|p.0?(6)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.G266E(DAUDI-Tumor)|p.G266E(MDAMB435S-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.384615	41.213812	41.669663	15	24	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7517866	7517866	16923	17	C	A	A	30	30	TP53	A	3	3
ICAM1	3383	broad.mit.edu	36	19	10255791	10255791	+	Silent	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10255791C>T	uc002mnq.2	+	c.720C>T	c.(718-720)GAC>GAT	p.D240D	ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	240	Ig-like C2-type 3.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1					Natalizumab(DB00108)|Simvastatin(DB00641)					72				0.317757	90.220262	93.375281	34	73	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Silent	SNP	10255791	10255791	7779	19	C	T	T	19	19	ICAM1	T	1	1
SMARCA4	6597	broad.mit.edu	36	19	10993404	10993404	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10993404C>T	uc010dxo.1	+	c.2620C>T	c.(2620-2622)CGT>TGT	p.R874C	SMARCA4_uc002mqf.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxp.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.1_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.2_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.1_Missense_Mutation_p.R874C|SMARCA4_uc002mqh.2_5'UTR|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	874	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.333333	26.767412	27.430923	9	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10993404	10993404	15268	19	C	T	T	23	23	SMARCA4	T	1	1
B3GNT3	10331	broad.mit.edu	36	19	17783705	17783705	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17783705T>C	uc002nhk.1	+	c.893T>C	c.(892-894)GTC>GCC	p.V298A	B3GNT3_uc002nhl.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	298	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity				0														0.090361	22.229446	78.389253	30	302	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17783705	17783705	1279	19	T	C	C	58	58	B3GNT3	C	4	4
JAK3	3718	broad.mit.edu	36	19	17804330	17804330	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17804330G>A	uc002nhn.2	-	c.2678C>T	c.(2677-2679)CCG>CTG	p.P893L	JAK3_uc010ebh.1_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	893	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.378049	184.086354	186.197763	62	102	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17804330	17804330	8243	19	G	A	A	39	39	JAK3	A	1	1
ZNF792	126375	broad.mit.edu	36	19	40141429	40141429	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40141429G>A	uc002nxh.1	-	c.1170C>T	c.(1168-1170)GGC>GGT	p.G390G		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)					GBM(1;7 183 21053 22581 22847)								0.25641	46.458744	50.659081	20	58	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0849)		Silent	SNP	40141429	40141429	18762	19	G	A	A	46	46	ZNF792	A	2	2
FCGBP	8857	broad.mit.edu	36	19	45052695	45052695	+	Splice_Site_SNP	SNP	C	A	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45052695C>A	uc002omp.2	-	c.15552_splice	c.e33+1	p.P5184_splice		NM_003890	NP_003881			Fc fragment of IgG binding protein							extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)													0.329787	91.288222	93.704666	31	63	CC		KEEP	---	---	---	---	capture	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		Splice_Site_SNP	SNP	45052695	45052695	6015	19	C	A	A	18	18	FCGBP	A	5	3
DMWD	1762	broad.mit.edu	36	19	50981927	50981927	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50981927G>C	uc002pdj.1	-	c.667C>G	c.(667-669)CCT>GCT	p.P223A	DMWD_uc002pdk.1_Missense_Mutation_p.P223A|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	223	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)												0.24	6.391959	7.989003	6	19	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	Missense_Mutation	SNP	50981927	50981927	4775	19	G	C	C	42	42	DMWD	C	3	3
C19orf48	84798	broad.mit.edu	36	19	55993192	55993192	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55993192C>A	uc002ptf.1	-	c.326G>T	c.(325-327)AGA>ATA	p.R109I	C19orf48_uc002pte.1_Non-coding_Transcript|C19orf48_uc002ptg.1_Missense_Mutation_p.R109I|C19orf48_uc010eob.1_Missense_Mutation_p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	109										ovary(1)	1		all_neural(266;0.057)												0.408163	278.19466	280.013777	100	145	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	Missense_Mutation	SNP	55993192	55993192	1995	19	C	A	A	32	32	C19orf48	A	3	3
SIGLEC8	27181	broad.mit.edu	36	19	56652292	56652292	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56652292G>C	uc002pwt.1	-	c.739C>G	c.(739-741)CCT>GCT	p.P247A	SIGLEC8_uc010eox.1_Missense_Mutation_p.P154A|SIGLEC8_uc002pwu.2_Non-coding_Transcript	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	247	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)												0.42236	245.179599	246.025317	68	93	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Missense_Mutation	SNP	56652292	56652292	14809	19	G	C	C	41	41	SIGLEC8	C	3	3
ARHGEF2	9181	broad.mit.edu	36	1	154194296	154194296	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154194296T>C	uc001fmu.1	-	c.1679A>G	c.(1678-1680)GAC>GGC	p.D560G	ARHGEF2_uc001fmr.1_Missense_Mutation_p.D488G|ARHGEF2_uc001fms.1_Missense_Mutation_p.D515G|ARHGEF2_uc001fmt.1_Missense_Mutation_p.D516G	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	rho/rac guanine nucleotide exchange factor 2	516	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.285714	10.178954	11.421372	8	20	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154194296	154194296	917	1	T	C	C	58	58	ARHGEF2	C	4	4
CROCC	9696	broad.mit.edu	36	1	17138181	17138181	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17138181C>A	uc001azt.2	+	c.1565C>A	c.(1564-1566)GCC>GAC	p.A522D	CROCC_uc009voy.1_Missense_Mutation_p.A225D|CROCC_uc001azu.2_5'Flank|CROCC_uc009voz.1_Missense_Mutation_p.A285D	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	522					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.272727	7.019245	7.532036	3	8	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17138181	17138181	4032	1	C	A	A	26	26	CROCC	A	3	3
HMCN1	83872	broad.mit.edu	36	1	184366368	184366368	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184366368G>A	uc001grq.1	+	c.13146G>A	c.(13144-13146)CAG>CAA	p.Q4382Q	HMCN1_uc001grs.1_De_novo_Start_OutOfFrame	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	4382	Ig-like C2-type 43.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.299107	179.828708	187.912987	67	157	GG		KEEP	---	---	---	---	capture			Silent	SNP	184366368	184366368	7511	1	G	A	A	36	36	HMCN1	A	2	2
ASPM	259266	broad.mit.edu	36	1	195328955	195328955	+	Silent	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195328955G>C	uc001gtu.1	-	c.9144C>G	c.(9142-9144)GTC>GTG	p.V3048V	ASPM_uc001gtv.1_Silent_p.V1463V|ASPM_uc001gtw.2_Silent_p.V896V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3048	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.601754	1224.054416	1229.203357	343	227	GG		KEEP	---	---	---	---	capture			Silent	SNP	195328955	195328955	1075	1	G	C	C	33	33	ASPM	C	3	3
USH2A	7399	broad.mit.edu	36	1	214532270	214532270	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214532270G>C	uc001hku.1	-	c.1710C>G	c.(1708-1710)TTC>TTG	p.F570L	USH2A_uc001hkv.1_Missense_Mutation_p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	570	Laminin EGF-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.349206	148.865401	151.392112	44	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214532270	214532270	17598	1	G	C	C	45	45	USH2A	C	3	3
MACF1	23499	broad.mit.edu	36	1	39573404	39573404	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39573404C>T	uc009vvr.1	+	c.3877C>T	c.(3877-3879)CGT>TGT	p.R1293C	MACF1_uc009vvo.1_Intron|MACF1_uc009vvp.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvs.1_Missense_Mutation_p.R1293C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1480	Spectrin 7.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.132743	20.143134	34.947582	15	98	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		Missense_Mutation	SNP	39573404	39573404	9521	1	C	T	T	19	19	MACF1	T	1	1
HYI	81888	broad.mit.edu	36	1	43690229	43690229	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43690229T>C	uc001cjo.1	-	c.469A>G	c.(469-471)ACT>GCT	p.T157A	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.1_Missense_Mutation_p.T84A|HYI_uc001cjn.1_Missense_Mutation_p.T157A|HYI_uc001cjp.1_Missense_Mutation_p.T84A	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	157							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.369048	90.25899	91.54076	31	53	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43690229	43690229	7768	1	T	C	C	59	59	HYI	C	4	4
NOL9	79707	broad.mit.edu	36	1	6511783	6511783	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6511783G>T	uc001ans.1	-	c.1683C>A	c.(1681-1683)CAC>CAA	p.H561Q		NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	561					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)												0.311688	70.370009	72.802276	24	53	GG		KEEP	---	---	---	---	capture		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	6511783	6511783	10931	1	G	T	T	36	36	NOL9	T	3	3
BARHL2	343472	broad.mit.edu	36	1	90950624	90950624	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:90950624C>G	uc001dns.1	-	c.997G>C	c.(997-999)GCT>CCT	p.A333P		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	333						nucleus	sequence-specific DNA binding|transcription regulator activity			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)				GBM(199;3561 4100 22440)								0.5	7.796473	7.796473	4	4	CC		KEEP	---	---	---	---	capture		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	Missense_Mutation	SNP	90950624	90950624	1335	1	C	G	G	26	26	BARHL2	G	3	3
IL17RA	23765	broad.mit.edu	36	22	15969845	15969845	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15969845T>G	uc002zly.1	+	c.1736T>G	c.(1735-1737)GTC>GGC	p.V579G	IL17RA_uc010gqt.1_Missense_Mutation_p.V527G	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	579	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.25	7.588737	8.501514	4	12	TT		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Missense_Mutation	SNP	15969845	15969845	7940	22	T	G	G	58	58	IL17RA	G	4	4
ADRBK2	157	broad.mit.edu	36	22	24447315	24447315	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:24447315G>A	uc003abx.2	+	c.1856G>A	c.(1855-1857)TGC>TAC	p.C619Y	ADRBK2_uc003aby.2_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	619	PH.				protein phosphorylation		ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)	5					Adenosine triphosphate(DB00171)					345				0.556962	130.999966	131.222005	44	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24447315	24447315	345	22	G	A	A	46	46	ADRBK2	A	2	2
IL1R1	3554	broad.mit.edu	36	2	102159515	102159515	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102159515C>T	uc002tbq.1	+	c.1574C>T	c.(1573-1575)TCT>TTT	p.S525F	IL1R1_uc010fix.1_Missense_Mutation_p.S494F|IL1R1_uc002tbr.1_Missense_Mutation_p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	525	TIR.|Cytoplasmic (Potential).				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding				0					Anakinra(DB00026)				p.S525C(HCC2157-Tumor)	429				0.333333	69.371701	71.145099	24	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102159515	102159515	7959	2	C	T	T	32	32	IL1R1	T	2	2
LCT	3938	broad.mit.edu	36	2	136274764	136274764	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136274764G>A	uc002tuu.1	-	c.4749C>T	c.(4747-4749)AAC>AAT	p.N1583N		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1583	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.5	173.743717	173.743717	58	58	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Silent	SNP	136274764	136274764	9017	2	G	A	A	40	40	LCT	A	1	1
ARHGAP15	55843	broad.mit.edu	36	2	144098191	144098191	+	Silent	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:144098191C>T	uc002tvm.2	+	c.1023C>T	c.(1021-1023)GAC>GAT	p.D341D	ARHGAP15_uc002tvn.1_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)	1														0.307692	68.952787	71.961421	28	63	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.151)	Silent	SNP	144098191	144098191	877	2	C	T	T	19	19	ARHGAP15	T	1	1
SOCS5	9655	broad.mit.edu	36	2	46840505	46840505	+	Silent	SNP	G	T	T			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46840505G>T	uc002rvf.1	+	c.1332G>T	c.(1330-1332)CCG>CCT	p.P444P	SOCS5_uc002rvg.1_Silent_p.P444P|SOCS5_uc010faz.1_Silent_p.P444P	NM_014011	NP_659198	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	444	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.334615	262.321252	268.626384	87	173	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.114)		Silent	SNP	46840505	46840505	15417	2	G	T	T	40	40	SOCS5	T	3	3
STXBP5L	9515	broad.mit.edu	36	3	122440590	122440590	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122440590C>T	uc003eec.2	+	c.1267C>T	c.(1267-1269)CCG>TCG	p.P423S		NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	423	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7														0.350877	115.766801	118.002665	40	74	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0694)	Missense_Mutation	SNP	122440590	122440590	15877	3	C	T	T	30	30	STXBP5L	T	2	2
LRIG1	26018	broad.mit.edu	36	3	66515430	66515430	+	Missense_Mutation	SNP	C	A	A			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:66515430C>A	uc003dmx.1	-	c.2574G>T	c.(2572-2574)AGG>AGT	p.R858S	SLC25A26_uc003dmv.2_Intron|LRIG1_uc010hnz.1_Missense_Mutation_p.R574S|LRIG1_uc010hoa.1_Missense_Mutation_p.R835S|LRIG1_uc003dmw.1_Missense_Mutation_p.R524S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	858	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)												0.309237	194.474632	202.553726	77	172	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00047)	Missense_Mutation	SNP	66515430	66515430	9317	3	C	A	A	30	30	LRIG1	A	3	3
BOD1L	259282	broad.mit.edu	36	4	13212615	13212615	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:13212615T>G	uc003gmz.1	-	c.5007A>C	c.(5005-5007)AGA>AGC	p.R1669S	BOD1L_uc010idr.1_Missense_Mutation_p.R1006S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	hypothetical protein LOC259282	1669							DNA binding			ovary(5)|breast(1)	6														0.366446	510.223701	517.331014	166	287	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13212615	13212615	1508	4	T	G	G	54	54	BOD1L	G	4	4
MFSD7	84179	broad.mit.edu	36	4	666077	666077	+	Silent	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:666077G>C	uc003gay.1	-	c.1353C>G	c.(1351-1353)GCC>GCG	p.A451A	MFSD7_uc003gaw.1_Silent_p.A193A|MFSD7_uc003gax.1_Silent_p.A450A|MFSD7_uc003gaz.1_Silent_p.A332A|MFSD7_uc003gba.1_Silent_p.A354A|MFSD7_uc003gbb.1_Missense_Mutation_p.P373R	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	451					transmembrane transport	integral to membrane					0														0.25	7.41919	8.100983	3	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	666077	666077	9927	4	G	C	C	39	39	MFSD7	C	3	3
PAQR3	152559	broad.mit.edu	36	4	80075397	80075397	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:80075397A>G	uc003hlp.1	-	c.250T>C	c.(250-252)TTC>CTC	p.F84L	PAQR3_uc003hlm.2_Non-coding_Transcript|PAQR3_uc003hln.2_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	84	Helical; (Potential).					Golgi membrane|integral to membrane	receptor activity				0										9				0.308725	149.298154	154.153964	46	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80075397	80075397	11853	4	A	G	G	3	3	PAQR3	G	4	4
APC	324	broad.mit.edu	36	5	112203490	112203490	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112203490A>G	uc010jby.1	+	c.4300A>G	c.(4300-4302)AGC>GGC	p.S1434G	APC_uc003kpz.2_Missense_Mutation_p.S1434G|APC_uc003kpy.2_Missense_Mutation_p.S1434G|APC_uc010jbz.1_Missense_Mutation_p.S1151G|APC_uc010jca.1_Missense_Mutation_p.S734G	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1434	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1424fs*19(1)|p.K1192fs*3(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.357895	115.324475	117.01377	34	61	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	Missense_Mutation	SNP	112203490	112203490	773	5	A	G	G	3	3	APC	G	4	4
SPRY4	81848	broad.mit.edu	36	5	141674414	141674414	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141674414G>A	uc010jgi.1	-	c.513C>T	c.(511-513)GTC>GTT	p.V171V	SPRY4_uc003lml.2_Silent_p.V148V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 1	148					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)	1		all_hematologic(541;0.118)												0.422078	188.060338	188.872712	65	89	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	141674414	141674414	15622	5	G	A	A	41	41	SPRY4	A	2	2
RNF145	153830	broad.mit.edu	36	5	158536382	158536382	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:158536382T>C	uc010jiq.1	-	c.547A>G	c.(547-549)ATG>GTG	p.M183V	RNF145_uc003lxo.1_Missense_Mutation_p.M181V|RNF145_uc003lxp.2_Missense_Mutation_p.M153V|RNF145_uc010jir.1_Missense_Mutation_p.M169V	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	153	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(2)	2	Renal(175;0.00196)	Medulloblastoma(196;0.0523)												0.122449	6.314821	13.155503	6	43	TT		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	158536382	158536382	13924	5	T	C	C	51	51	RNF145	C	4	4
C7	730	broad.mit.edu	36	5	40985854	40985854	+	Silent	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40985854C>T	uc003jmh.1	+	c.1074C>T	c.(1072-1074)AAC>AAT	p.N358N		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	358	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.25	7.819981	8.501196	3	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	40985854	40985854	2482	5	C	T	T	19	19	C7	T	1	1
HLA-DOA	3111	broad.mit.edu	36	6	33082876	33082876	+	Silent	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33082876G>A	uc003ocr.1	-	c.708C>T	c.(706-708)ACC>ACT	p.T236T	HLA-DOA_uc010jui.1_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	236	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0														0.39726	169.27447	170.604024	58	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	33082876	33082876	7491	6	G	A	A	39	39	HLA-DOA	A	1	1
PLA2G7	7941	broad.mit.edu	36	6	46786351	46786351	+	Silent	SNP	G	T	T			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46786351G>T	uc010jzf.1	-	c.667C>A	c.(667-669)CGG>AGG	p.R223R	PLA2G7_uc010jzg.1_Silent_p.R223R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	223					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0														0.35	174.755254	177.930078	56	104	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Silent	SNP	46786351	46786351	12435	6	G	T	T	40	40	PLA2G7	T	3	3
PLXNA4	91584	broad.mit.edu	36	7	131510206	131510206	+	Silent	SNP	C	T	T			TCGA-28-5207-01	TCGA-28-5207-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:131510206C>T	uc003vra.2	-	c.3888G>A	c.(3886-3888)CTG>CTA	p.L1296L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1296	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.325359	165.307573	170.974475	68	141	CC		KEEP	---	---	---	---	capture			Silent	SNP	131510206	131510206	12548	7	C	T	T	25	25	PLXNA4	T	2	2
CHRM2	1129	broad.mit.edu	36	7	136350864	136350864	+	Missense_Mutation	SNP	G	C	C			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:136350864G>C	uc003vtf.1	+	c.712G>C	c.(712-714)GGA>CGA	p.G238R	CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc010lmw.1_Missense_Mutation_p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	238	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.214286	47.935273	55.315025	21	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136350864	136350864	3511	7	G	C	C	35	35	CHRM2	C	3	3
EGFR	1956	broad.mit.edu	36	7	55189315	55189315	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55189315G>A	uc003tqk.1	+	c.865G>A	c.(865-867)GCC>ACC	p.A289T	EGFR_uc003tqh.1_Missense_Mutation_p.A289T|EGFR_uc003tqi.1_Missense_Mutation_p.A289T|EGFR_uc003tqj.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	289	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)|p.A289T(3)		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)			0.428571	205.971366	206.802579	81	108	GG		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	55189315	55189315	5156	7	G	A	A	46	46	EGFR	A	2	2
PYCRL	65263	broad.mit.edu	36	8	144761408	144761408	+	Silent	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144761408A>G	uc003yyy.1	-	c.123T>C	c.(121-123)AGT>AGC	p.S41S		NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	41					oxidation-reduction process|proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.150538	21.402555	32.282541	14	79	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		Silent	SNP	144761408	144761408	13315	8	A	G	G	6	6	PYCRL	G	4	4
MPDZ	8777	broad.mit.edu	36	9	13097002	13097002	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5207-01	TCGA-28-5207-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:13097002G>A	uc010mhy.1	-	c.6088C>T	c.(6088-6090)CGG>TGG	p.R2030W	MPDZ_uc003zkx.2_Missense_Mutation_p.R254W|MPDZ_uc003zky.2_Missense_Mutation_p.R593W|MPDZ_uc010mhx.1_Missense_Mutation_p.R881W|MPDZ_uc003zkz.2_Missense_Mutation_p.R752W|MPDZ_uc010mhz.1_Missense_Mutation_p.R2026W|MPDZ_uc003zlb.2_Missense_Mutation_p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2059	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6														0.283276	212.196845	224.560926	83	210	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;2.03e-06)	Missense_Mutation	SNP	13097002	13097002	10114	9	G	A	A	40	40	MPDZ	A	1	1
NOTCH1	4851	broad.mit.edu	36	9	138520058	138520058	+	Missense_Mutation	SNP	T	G	G			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138520058T>G	uc004chz.1	-	c.4111A>C	c.(4111-4113)ACC>CCC	p.T1371P	NOTCH1_uc004cia.1_Missense_Mutation_p.T601P	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1371	Extracellular (Potential).|EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)								1552				0.5	10.525851	10.525851	5	5	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	Missense_Mutation	SNP	138520058	138520058	10950	9	T	G	G	59	59	NOTCH1	G	4	4
ZCCHC6	79670	broad.mit.edu	36	9	88157663	88157663	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5207-01	TCGA-28-5207-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:88157663T>C	uc004aoq.1	-	c.272A>G	c.(271-273)AAT>AGT	p.N91S	ZCCHC6_uc004aor.1_Non-coding_Transcript|ZCCHC6_uc004aos.1_Non-coding_Transcript|ZCCHC6_uc004aot.1_Missense_Mutation_p.N91S|ZCCHC6_uc004aou.1_Missense_Mutation_p.N91S|ZCCHC6_uc004aov.1_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.2_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.1_Missense_Mutation_p.N91S	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	91					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.392962	419.395283	422.807583	134	207	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	88157663	88157663	18180	9	T	C	C	52	52	ZCCHC6	C	4	4
MXRA5	25878	broad.mit.edu	36	X	3238358	3238358	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3238358A>C	uc004crg.2	-	c.7886T>G	c.(7885-7887)GTC>GGC	p.V2629G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	2629	Ig-like C2-type 10.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.28	6.831683	8.067104	7	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3238358	3238358	10397	23	A	C	C	10	10	MXRA5	C	4	4
RPA4	29935	broad.mit.edu	36	X	96026398	96026398	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5207-01	TCGA-28-5207-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:96026398A>G	uc004efv.2	+	c.433A>G	c.(433-435)ATT>GTT	p.I145V	DIAPH2_uc004eft.2_Intron|DIAPH2_uc004efu.2_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	145					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0														0.744681	260.396911	265.503802	70	24	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96026398	96026398	14018	23	A	G	G	4	4	RPA4	G	4	4
CTSA	5476	broad.mit.edu	36	20	43953384	43953384	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-5207-01	TCGA-28-5207-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43953384_43953384delC	uc002xqh.1	+	c.13_13delC	c.(13-15)CCCfs	p.P5fs	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.2_5'UTR|CTSA_uc002xqi.1_Non-coding_Transcript|CTSA_uc002xqk.2_5'Flank	NM_000308	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform a precursor	Error:Variant_position_missing_in_P10619_after_alignment					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	43953384	43953384	4188	20	C	-	-	30	30	CTSA	-	5	5
QKI	9444	broad.mit.edu	36	6	163904572	163904575	+	Frame_Shift_Del	DEL	CAGA	-	-			TCGA-28-5207-01	TCGA-28-5207-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:163904572_163904575delCAGA	uc003qui.1	+	c.765_768delCAGA	c.(763-768)ATCAGAfs	p.I255fs	QKI_uc003que.1_Frame_Shift_Del_p.I255fs|QKI_uc003quf.1_Frame_Shift_Del_p.I255fs|QKI_uc003qug.1_Frame_Shift_Del_p.I255fs|QKI_uc003quh.1_Frame_Shift_Del_p.I247fs|QKI_uc003quj.1_Frame_Shift_Del_p.I247fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	255_256					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)										0.45			30	36				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	163904572	163904575	13331	6	CAGA	-	-	29	29	QKI	-	5	5
