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
ADAM8	101	broad.mit.edu	36	10	134934243	134934243	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:134934243C>G	uc001lme.1	-	c.1621G>C	c.(1621-1623)GCC>CCC	p.A541P	ADAM8_uc009ybi.1_Missense_Mutation_p.A541P	NM_001109	NP_001100	Q14C66	Q14C66_HUMAN	ADAM metallopeptidase domain 8 precursor	541					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)												0.5	7.553463	7.553463	3	3	CC		KEEP	---	---	---	---	capture		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	Missense_Mutation	SNP	134934243	134934243	253	10	C	G	G	26	26	ADAM8	G	3	3
NEBL	10529	broad.mit.edu	36	10	21152174	21152174	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:21152174C>T	uc001iqi.1	-	c.1931G>A	c.(1930-1932)AGA>AAA	p.R644K	NEBL_uc001iqk.1_Intron|NEBL_uc001iqj.1_Non-coding_Transcript|NEBL_uc001iql.1_Non-coding_Transcript	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	644	Nebulin 18.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.76	131.274406	134.35826	38	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21152174	21152174	10702	10	C	T	T	32	32	NEBL	T	2	2
RBP3	5949	broad.mit.edu	36	10	48010595	48010595	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48010595C>T	uc001jez.1	-	c.289G>A	c.(289-291)GAG>AAG	p.E97K		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	97	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.768421	238.218368	244.490979	73	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48010595	48010595	13626	10	C	T	T	31	31	RBP3	T	1	1
ADO	84890	broad.mit.edu	36	10	64234918	64234918	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:64234918C>T	uc001jmg.1	+	c.93C>T	c.(91-93)TCC>TCT	p.S31S		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	31					oxidation-reduction process		cysteamine dioxygenase activity|metal ion binding				0	Prostate(12;0.0297)|all_hematologic(501;0.228)													0.9375	50.608797	52.327828	15	1	CC		KEEP	---	---	---	---	capture			Silent	SNP	64234918	64234918	326	10	C	T	T	23	23	ADO	T	1	1
KSR2	283455	broad.mit.edu	36	12	116447063	116447063	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:116447063C>T	uc001two.2	-	c.2109G>A	c.(2107-2109)CCG>CCA	p.P703P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	732	Protein kinase.				intracellular signal transduction|protein phosphorylation	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(7)|central_nervous_system(2)|large_intestine(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									623				0.377049	62.410662	63.219388	23	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	116447063	116447063	8905	12	C	T	T	27	27	KSR2	T	1	1
TMEM132D	121256	broad.mit.edu	36	12	128750620	128750620	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:128750620G>A	uc009zyl.1	-	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D	219	Extracellular (Potential).					integral to membrane		p.P219L(1)		ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)												0.357143	114.266587	116.280707	40	72	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	Missense_Mutation	SNP	128750620	128750620	16579	12	G	A	A	39	39	TMEM132D	A	1	1
PIK3C2G	5288	broad.mit.edu	36	12	18435420	18435420	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18435420T>C	uc001rds.1	+	c.1970T>C	c.(1969-1971)ATT>ACT	p.I657T	PIK3C2G_uc001rdt.1_Missense_Mutation_p.I657T	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	657					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.47619	140.899172	140.940361	40	44	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18435420	18435420	12335	12	T	C	C	52	52	PIK3C2G	C	4	4
LRFN5	145581	broad.mit.edu	36	14	41426470	41426470	+	Missense_Mutation	SNP	G	T	T			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:41426470G>T	uc001wvm.1	+	c.892G>T	c.(892-894)GTC>TTC	p.V298F	LRFN5_uc010ana.1_Missense_Mutation_p.V298F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	298	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8														0.734513	280.069347	285.682376	83	30	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	Missense_Mutation	SNP	41426470	41426470	9314	14	G	T	T	36	36	LRFN5	T	3	3
MOAP1	64112	broad.mit.edu	36	14	92720207	92720207	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:92720207G>A	uc001ybj.1	-	c.134C>T	c.(133-135)CCC>CTC	p.P45L	MOAP1_uc010aun.1_Missense_Mutation_p.P45L|C14orf109_uc001ybk.2_5'Flank|C14orf109_uc010auo.1_5'Flank|C14orf109_uc010aup.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	45					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			ovary(1)	1		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)												0.804734	448.065094	462.689493	136	33	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	Missense_Mutation	SNP	92720207	92720207	10071	14	G	A	A	43	43	MOAP1	A	2	2
IRX5	10265	broad.mit.edu	36	16	53524971	53524971	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:53524971C>T	uc002ehv.1	+	c.1137C>T	c.(1135-1137)GCC>GCT	p.A379A	IRX5_uc002ehw.1_Silent_p.A313A	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	379					regulation of transcription, DNA-dependent|response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|vitamin D binding				0														0.454545	27.836208	27.876864	10	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	53524971	53524971	8151	16	C	T	T	22	22	IRX5	T	2	2
CLEC3A	10143	broad.mit.edu	36	16	76622125	76622125	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:76622125C>T	uc002ffh.2	+	c.480C>T	c.(478-480)AAC>AAT	p.N160N		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	160	C-type lectin.				skeletal system development	extracellular region	sugar binding				0														0.316092	149.559998	154.798864	55	119	CC		KEEP	---	---	---	---	capture			Silent	SNP	76622125	76622125	3648	16	C	T	T	19	19	CLEC3A	T	1	1
KRT13	3860	broad.mit.edu	36	17	36914915	36914915	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36914915G>A	uc002hwu.1	-	c.414C>T	c.(412-414)GAC>GAT	p.D138D	KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc002hww.1_Silent_p.D31D|KRT13_uc010cxo.1_Silent_p.D138D|KRT13_uc002hwx.1_Silent_p.D126D	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	138	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|pancreas(1)	3		Breast(137;0.000286)												0.4	236.151093	237.902433	80	120	GG		KEEP	---	---	---	---	capture			Silent	SNP	36914915	36914915	8765	17	G	A	A	36	36	KRT13	A	2	2
FMNL1	752	broad.mit.edu	36	17	40676420	40676420	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40676420C>T	uc002iin.1	+	c.2163C>T	c.(2161-2163)ACC>ACT	p.T721T	FMNL1_uc002iiq.1_Silent_p.T299T|FMNL1_uc010dag.1_Non-coding_Transcript	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	721	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)								0.35	101.299306	103.28234	35	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	40676420	40676420	6193	17	C	T	T	22	22	FMNL1	T	2	2
ACAP1	9744	broad.mit.edu	36	17	7194267	7194267	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7194267G>A	uc002ggd.1	+	c.2059G>A	c.(2059-2061)GAC>AAC	p.D687N	KCTD11_uc002gge.2_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	687	Required for interaction with GULP1.|ANK 3.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3														0.446667	200.303949	200.675671	67	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7194267	7194267	119	17	G	A	A	45	45	ACAP1	A	2	2
TP53	7157	broad.mit.edu	36	17	7514728	7514728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7514728G>A	uc002gim.2	-	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; 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.R342*(45)|p.0?(6)|p.R342fs*3(3)|p.R342_N345delRELN(1)|p.I332fs*5(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.R342*(KNS42-Tumor)|p.R342*(OVSAHO-Tumor)|p.R342*(TEN-Tumor)|p.R342*(UACC893-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.537037	96.979569	97.044073	29	25	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Nonsense_Mutation	SNP	7514728	7514728	16923	17	G	A	A	39	39	TP53	A	5	1
TP53	7157	broad.mit.edu	36	17	7519201	7519201	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519201G>A	uc002gim.2	-	c.454C>T	c.(454-456)CCG>TCG	p.P152S	TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.1_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152S(21)|p.P152T(7)|p.0?(6)|p.P152fs*29(5)|p.P152fs*14(4)|p.T150fs*16(3)|p.P152A(2)|p.P152fs*18(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.T150_P153delTPPP(1)|p.P153fs*16(1)|p.P152fs*28(1)|p.Q144fs*16(1)|p.P151_V173del23(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152L(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.P152fs(RH41-Tumor)|p.P152S(UMUC1-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.431818	115.240467	115.595264	38	50	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519201	7519201	16923	17	G	A	A	43	43	TP53	A	2	2
PFAS	5198	broad.mit.edu	36	17	8111470	8111470	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8111470G>A	uc002gkr.1	+	c.3231G>A	c.(3229-3231)CGG>CGA	p.R1077R	PFAS_uc002gks.2_Silent_p.R156R	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1077	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.419689	250.843101	251.929034	81	112	GG		KEEP	---	---	---	---	capture			Silent	SNP	8111470	8111470	12176	17	G	A	A	43	43	PFAS	A	2	2
ICAM5	7087	broad.mit.edu	36	19	10266102	10266102	+	Silent	SNP	C	A	A			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10266102C>A	uc002mnu.2	+	c.2016C>A	c.(2014-2016)ACC>ACA	p.T672T	ICAM5_uc002mnv.2_Silent_p.T547T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	672	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3														0.82	131.400397	136.213218	41	9	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		Silent	SNP	10266102	10266102	7783	19	C	A	A	24	24	ICAM5	A	3	3
NCAN	1463	broad.mit.edu	36	19	19197039	19197039	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19197039C>T	uc002nlz.1	+	c.1032C>T	c.(1030-1032)TTC>TTT	p.F344F	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3	344	Link 2.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4														0.444444	6.967303	6.99496	4	5	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.00544)		Silent	SNP	19197039	19197039	10603	19	C	T	T	30	30	NCAN	T	2	2
PRR12	57479	broad.mit.edu	36	19	54788411	54788411	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54788411C>G	uc002poo.2	+	c.102C>G	c.(100-102)AGC>AGG	p.S34R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:Variant_position_missing_in_Q9ULL5_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)												0.5	7.222295	7.222295	3	3	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	Missense_Mutation	SNP	54788411	54788411	13027	19	C	G	G	28	28	PRR12	G	3	3
TNFRSF4	7293	broad.mit.edu	36	1	1136867	1136867	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1136867C>T	uc001ade.1	-	c.765G>A	c.(763-765)GGG>GGA	p.G255G	TNFRSF4_uc001adf.2_Silent_p.G285G	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	255	Cytoplasmic (Potential).				immune response|negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)								139				0.266667	29.980295	32.193258	12	33	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Silent	SNP	1136867	1136867	16838	1	C	T	T	22	22	TNFRSF4	T	2	2
CASQ1	844	broad.mit.edu	36	1	158429263	158429263	+	Silent	SNP	A	T	T			TCGA-76-4929-01	TCGA-76-4929-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158429263A>T	uc001fvi.1	+	c.309A>T	c.(307-309)GTA>GTT	p.V103V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	103						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.378676	301.961975	305.473544	103	169	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)		Silent	SNP	158429263	158429263	2799	1	A	T	T	15	15	CASQ1	T	4	4
TNFSF18	8995	broad.mit.edu	36	1	171277156	171277156	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:171277156G>A	uc001giu.2	-	c.574C>T	c.(574-576)CTA>TTA	p.L192L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily,	192	Extracellular (Potential).				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1														0.409449	168.876017	169.786118	52	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	171277156	171277156	16850	1	G	A	A	36	36	TNFSF18	A	2	2
LHX9	56956	broad.mit.edu	36	1	196153711	196153711	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:196153711C>T	uc001guk.1	+	c.135C>T	c.(133-135)GCC>GCT	p.A45A	LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A|LHX9_uc001guj.1_Silent_p.A51A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	45					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1														0.353846	122.811692	125.258693	46	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	196153711	196153711	9103	1	C	T	T	22	22	LHX9	T	2	2
PLA2G2A	5320	broad.mit.edu	36	1	20177511	20177511	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20177511C>G	uc001bcu.1	-	c.134G>C	c.(133-135)GGC>GCC	p.G45A	PLA2G2A_uc001bcv.1_Missense_Mutation_p.G45A	NM_000300	NP_000291	P14555	PA2GA_HUMAN	phospholipase A2, group IIA	45					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)												0.25	8.789758	9.701238	4	12	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	20177511	20177511	12421	1	C	G	G	26	26	PLA2G2A	G	3	3
PABPC4	8761	broad.mit.edu	36	1	39802747	39802747	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:39802747C>T	uc001cdl.1	-	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	PABPC4_uc001cdm.1_Missense_Mutation_p.R463H|PABPC4_uc001cdn.1_Missense_Mutation_p.R463H	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	463					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)												0.371622	148.56634	150.716262	55	93	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Missense_Mutation	SNP	39802747	39802747	11781	1	C	T	T	27	27	PABPC4	T	1	1
NANP	140838	broad.mit.edu	36	20	25545030	25545030	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25545030G>C	uc002wuy.1	-	c.278C>G	c.(277-279)GCT>GGT	p.A93G		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	93					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity				0														0.321429	115.659836	118.832222	36	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25545030	25545030	10550	20	G	C	C	34	34	NANP	C	3	3
CDH4	1002	broad.mit.edu	36	20	59942612	59942612	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:59942612C>T	uc002ybn.1	+	c.2483C>T	c.(2482-2484)CCC>CTC	p.P828L	CDH4_uc002ybp.1_Missense_Mutation_p.P754L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	828	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5														0.345679	70.056232	71.767991	28	53	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		Missense_Mutation	SNP	59942612	59942612	3241	20	C	T	T	22	22	CDH4	T	2	2
NTSR1	4923	broad.mit.edu	36	20	60811596	60811596	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60811596C>A	uc002ydf.1	+	c.592C>A	c.(592-594)CTG>ATG	p.L198M		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	198	Helical; Name=4; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)					GBM(37;400 780 6403 19663 35669)				297				0.392157	107.97709	109.015479	40	62	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		Missense_Mutation	SNP	60811596	60811596	11115	20	C	A	A	24	24	NTSR1	A	3	3
GAB4	128954	broad.mit.edu	36	22	15830832	15830832	+	Splice_Site_SNP	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15830832C>T	uc002zlw.1	-	c.937_splice	c.e4+1	p.A313_splice	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903			GRB2-associated binding protein family, member											large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)												0.780303	325.953553	335.499622	103	29	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	15830832	15830832	6402	22	C	T	T	18	18	GAB4	T	5	2
DEPDC5	9681	broad.mit.edu	36	22	30564828	30564828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:30564828C>T	uc003alt.1	+	c.2485C>T	c.(2485-2487)CGA>TGA	p.R829*	DEPDC5_uc003als.1_Nonsense_Mutation_p.R829*|DEPDC5_uc003alu.1_Nonsense_Mutation_p.R278*|DEPDC5_uc003alv.1_Non-coding_Transcript|DEPDC5_uc003alw.1_Nonsense_Mutation_p.R127*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	829					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8														0.710744	287.198936	292.019237	86	35	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	30564828	30564828	4621	22	C	T	T	23	23	DEPDC5	T	5	1
FAM123C	205147	broad.mit.edu	36	2	131237136	131237136	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131237136C>T	uc002trw.2	+	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W	FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W|FAM123C_uc010fmv.1_Missense_Mutation_p.R341W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	341										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)													0.359375	64.032874	65.135999	23	41	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.13)	Missense_Mutation	SNP	131237136	131237136	5621	2	C	T	T	23	23	FAM123C	T	1	1
PHOSPHO2	493911	broad.mit.edu	36	2	170266388	170266388	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170266388T>C	uc002ufg.1	+	c.661T>C	c.(661-663)TCT>CCT	p.S221P	KLHL23_uc002ufh.1_Intron|PHOSPHO2_uc010fpz.1_Missense_Mutation_p.S221P	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	221							metal ion binding|pyridoxal phosphatase activity				0														0.480769	266.520755	266.570798	75	81	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170266388	170266388	12281	2	T	C	C	62	62	PHOSPHO2	C	4	4
MYO1B	4430	broad.mit.edu	36	2	191956312	191956312	+	Missense_Mutation	SNP	A	T	T			TCGA-76-4929-01	TCGA-76-4929-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:191956312A>T	uc010fsg.1	+	c.1352A>T	c.(1351-1353)AAT>ATT	p.N451I	MYO1B_uc002usq.1_Missense_Mutation_p.N451I|MYO1B_uc002usr.1_Missense_Mutation_p.N451I|MYO1B_uc002ust.1_Missense_Mutation_p.N89I	NM_012223	NP_036355	O43795	MYO1B_HUMAN	myosin IB isoform 2	451	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8														0.438596	82.570006	82.75681	25	32	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		Missense_Mutation	SNP	191956312	191956312	10464	2	A	T	T	4	4	MYO1B	T	4	4
ALS2	57679	broad.mit.edu	36	2	202317267	202317267	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:202317267C>G	uc002uyo.1	-	c.2129G>C	c.(2128-2130)AGT>ACT	p.S710T	ALS2_uc010ftl.1_Non-coding_Transcript|ALS2_uc002uyp.2_Missense_Mutation_p.S710T|ALS2_uc002uyq.1_Missense_Mutation_p.S710T	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	710	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|positive regulation of Rac protein signal transduction|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(4)|lung(1)|breast(1)	6									p.S710I(HRT18-Tumor)|p.S710I(HCT15-Tumor)	498				0.345794	122.943464	125.18979	37	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	202317267	202317267	553	2	C	G	G	20	20	ALS2	G	3	3
SLC11A1	6556	broad.mit.edu	36	2	218962857	218962857	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218962857C>T	uc002vhv.1	+	c.816C>T	c.(814-816)GCC>GCT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.1_Silent_p.A154A|SLC11A1_uc010fvr.1_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	272	Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)												0.490909	84.920553	84.924574	27	28	CC		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	218962857	218962857	14875	2	C	T	T	22	22	SLC11A1	T	2	2
HADHA	3030	broad.mit.edu	36	2	26310603	26310603	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26310603C>T	uc002rgy.1	-	c.439G>A	c.(439-441)GGA>AGA	p.G147R		NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	147					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)									0.305785	101.011044	105.093408	37	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26310603	26310603	7225	2	C	T	T	22	22	HADHA	T	2	2
RNF123	63891	broad.mit.edu	36	3	49712161	49712161	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49712161C>T	uc003cxh.1	+	c.936C>T	c.(934-936)ACC>ACT	p.T312T	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.1_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	312						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)	6														0.52809	145.24611	145.309487	47	42	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	Silent	SNP	49712161	49712161	13910	3	C	T	T	23	23	RNF123	T	1	1
FGG	2266	broad.mit.edu	36	4	155749237	155749237	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155749237C>T	uc003iok.1	-	c.706G>A	c.(706-708)GTA>ATA	p.V236I	FGG_uc003iog.1_Missense_Mutation_p.V228I|FGG_uc003ioh.1_Missense_Mutation_p.V236I|FGG_uc010ipx.1_Missense_Mutation_p.V56I|FGG_uc010ipy.1_5'UTR|FGG_uc003ioi.1_5'UTR|FGG_uc003ioj.1_Missense_Mutation_p.V228I	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	228	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)									0.294118	100.149229	105.307315	40	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155749237	155749237	6107	4	C	T	T	17	17	FGG	T	2	2
LPHN3	23284	broad.mit.edu	36	4	62045618	62045618	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:62045618G>A	uc010ihh.1	+	c.12G>A	c.(10-12)TCG>TCA	p.S4S	LPHN3_uc010ihg.1_Silent_p.S4S|LPHN3_uc003hcq.2_Silent_p.S4S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.458333	99.666332	99.775248	33	39	GG		KEEP	---	---	---	---	capture			Silent	SNP	62045618	62045618	9290	4	G	A	A	38	38	LPHN3	A	1	1
DCK	1633	broad.mit.edu	36	4	72107118	72107118	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4929-01	TCGA-76-4929-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72107118T>G	uc003hfx.1	+	c.378T>G	c.(376-378)TTT>TTG	p.F126L		NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	126					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1					Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)									0.4	227.320295	228.762438	66	99	TT		KEEP	---	---	---	---	capture	Lung(101;0.235)		Missense_Mutation	SNP	72107118	72107118	4461	4	T	G	G	63	63	DCK	G	4	4
ANXA3	306	broad.mit.edu	36	4	79726452	79726452	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79726452C>T	uc003hld.1	+	c.327C>T	c.(325-327)AAC>AAT	p.N109N	ANXA3_uc003hle.1_Silent_p.N70N|ANXA3_uc010ijk.1_Silent_p.N70N	NM_005139	NP_005130	P12429	ANXA3_HUMAN	annexin A3	109	Annexin 2.				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity				0						GBM(2;126 157 27790 28920 42492)								0.39375	185.489385	187.070944	63	97	CC		KEEP	---	---	---	---	capture			Silent	SNP	79726452	79726452	727	4	C	T	T	19	19	ANXA3	T	1	1
FTMT	94033	broad.mit.edu	36	5	121215619	121215619	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121215619C>T	uc003kss.1	+	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	mitochondrial ferritin	21					cellular iron ion homeostasis|iron ion transport|oxidation-reduction process|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)												0.538462	63.976801	64.027077	21	18	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	Missense_Mutation	SNP	121215619	121215619	6336	5	C	T	T	23	23	FTMT	T	1	1
GABRB2	2561	broad.mit.edu	36	5	160653847	160653847	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160653847C>T	uc003lys.1	-	c.1358G>A	c.(1357-1359)CGA>CAA	p.R453Q	GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q|GABRB2_uc010jiu.1_Missense_Mutation_p.R352Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	453	Cytoplasmic (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)									0.253968	78.348486	85.266896	32	94	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	160653847	160653847	6418	5	C	T	T	31	31	GABRB2	T	1	1
BASP1	10409	broad.mit.edu	36	5	17328370	17328370	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:17328370C>T	uc003jfx.1	+	c.45C>T	c.(43-45)AAC>AAT	p.N15N	BASP1_uc010ity.1_Silent_p.N15N	NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	15					glomerular visceral epithelial cell differentiation|negative regulation of gene-specific transcription	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	promoter binding|protein domain specific binding|specific transcriptional repressor activity|transcription corepressor activity				0														0.4	45.389543	45.739848	16	24	CC		KEEP	---	---	---	---	capture			Silent	SNP	17328370	17328370	1338	5	C	T	T	19	19	BASP1	T	1	1
CDH18	1016	broad.mit.edu	36	5	19757273	19757273	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19757273C>T	uc003jgc.1	-	c.583G>A	c.(583-585)GCT>ACT	p.A195T	CDH18_uc003jgd.1_Missense_Mutation_p.A195T|CDH18_uc010iua.1_Missense_Mutation_p.A195T|CDH18_uc010itz.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	195	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(1)		ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.52027	230.862964	230.915301	77	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19757273	19757273	3232	5	C	T	T	27	27	CDH18	T	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	234778	234778	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:234778G>A	uc003jak.2	+	c.3484G>A	c.(3484-3486)GTC>ATC	p.V1162I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1162					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.15625	33.829351	48.2599	20	108	GG		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Missense_Mutation	SNP	234778	234778	12498	5	G	A	A	40	40	PLEKHG4B	A	1	1
POU5F2	134187	broad.mit.edu	36	5	93102898	93102898	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:93102898C>T	uc003kkl.1	-	c.128G>A	c.(127-129)AGG>AAG	p.R43K	FAM172A_uc003kkk.1_Intron|FAM172A_uc010jbd.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	43					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)												0.333333	20.017962	20.534594	7	14	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	Missense_Mutation	SNP	93102898	93102898	12713	5	C	T	T	24	24	POU5F2	T	2	2
FKBPL	63943	broad.mit.edu	36	6	32205091	32205091	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32205091C>T	uc003nzr.1	-	c.445G>A	c.(445-447)GGG>AGG	p.G149R	ATF6B_uc003nzn.1_5'Flank|ATF6B_uc003nzo.1_5'Flank|ATF6B_uc003nzq.2_5'Flank|FKBPL_uc010jtt.1_Missense_Mutation_p.G149R	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	149					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0														0.754902	817.755743	835.854197	231	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32205091	32205091	6154	6	C	T	T	24	24	FKBPL	T	2	2
PKHD1	5314	broad.mit.edu	36	6	51998815	51998815	+	Missense_Mutation	SNP	G	T	T			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51998815G>T	uc003pah.1	-	c.3752C>A	c.(3751-3753)ACC>AAC	p.T1251N	PKHD1_uc003pai.1_Missense_Mutation_p.T1251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1251	Extracellular (Potential).|IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.364583	88.834003	90.40723	35	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51998815	51998815	12396	6	G	T	T	44	44	PKHD1	T	3	3
JHDM1D	80853	broad.mit.edu	36	7	139471003	139471003	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139471003C>T	uc003vvm.1	-	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	313	JmjC.				midbrain development|oxidation-reduction process|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)													0.29	75.933327	79.886464	29	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139471003	139471003	8252	7	C	T	T	19	19	JHDM1D	T	1	1
MGAM	8972	broad.mit.edu	36	7	141411648	141411648	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141411648G>A	uc003vwy.1	+	c.4529G>A	c.(4528-4530)CGC>CAC	p.R1510H		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1510	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.592593	50.803967	51.006187	16	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141411648	141411648	9931	7	G	A	A	38	38	MGAM	A	1	1
KEL	3792	broad.mit.edu	36	7	142368149	142368149	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142368149G>A	uc003wcb.1	-	c.388C>T	c.(388-390)CGG>TGG	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	130	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.321767	285.753917	294.689267	102	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142368149	142368149	8448	7	G	A	A	37	37	KEL	A	1	1
CLIP2	7461	broad.mit.edu	36	7	73429012	73429012	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73429012G>A	uc003uam.1	+	c.2345G>A	c.(2344-2346)AGT>AAT	p.S782N	CLIP2_uc003uan.1_Missense_Mutation_p.S747N|CLIP2_uc003uao.2_Missense_Mutation_p.S176N	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	782	Potential.					microtubule associated complex					0														0.380952	23.394871	23.655956	8	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73429012	73429012	3671	7	G	A	A	36	36	CLIP2	A	2	2
NEFL	4747	broad.mit.edu	36	8	24869307	24869307	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24869307C>T	uc003xee.1	-	c.640G>A	c.(640-642)GAC>AAC	p.D214N		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	214	Rod.|Coil 1B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)												0.432836	86.862621	87.126464	29	38	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	Missense_Mutation	SNP	24869307	24869307	10714	8	C	T	T	31	31	NEFL	T	1	1
PTPN3	5774	broad.mit.edu	36	9	111229177	111229177	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111229177C>T	uc004bed.1	-	c.875G>A	c.(874-876)CGA>CAA	p.R292Q	PTPN3_uc004beb.1_Missense_Mutation_p.R161Q|PTPN3_uc004bec.1_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.1_Non-coding_Transcript	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	292	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.358974	163.056853	165.788706	56	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111229177	111229177	13246	9	C	T	T	31	31	PTPN3	T	1	1
RGS3	5998	broad.mit.edu	36	9	115308594	115308594	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115308594G>A	uc004bhq.1	+	c.1085G>A	c.(1084-1086)CGG>CAG	p.R362Q	RGS3_uc004bhr.1_Missense_Mutation_p.R250Q|RGS3_uc004bhs.1_Missense_Mutation_p.R252Q|RGS3_uc004bht.1_Missense_Mutation_p.R81Q|RGS3_uc010muy.1_Missense_Mutation_p.R81Q|RGS3_uc004bhu.1_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	362	PDZ.				inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3														0.333333	15.1699	15.538959	5	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115308594	115308594	13780	9	G	A	A	39	39	RGS3	A	1	1
NUDT2	318	broad.mit.edu	36	9	34333182	34333182	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34333182C>T	uc003zub.1	+	c.188C>T	c.(187-189)GCA>GTA	p.A63V	NUDT2_uc003zuc.1_Missense_Mutation_p.A63V|NUDT2_uc003zud.1_Missense_Mutation_p.A63V	NM_001161	NP_671702	P50583	AP4A_HUMAN	nudix-type motif 2	63	Nudix box.|Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0						Melanoma(95;1683 1957 4276 39813)								0.37092	331.660395	336.603557	125	212	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	Missense_Mutation	SNP	34333182	34333182	11142	9	C	T	T	25	25	NUDT2	T	2	2
INSL6	11172	broad.mit.edu	36	9	5175459	5175459	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5175459G>A	uc003zix.1	-	c.144C>T	c.(142-144)GCC>GCT	p.A48A		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	48						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)												0.677778	206.504921	209.031074	61	29	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	Silent	SNP	5175459	5175459	8071	9	G	A	A	47	47	INSL6	A	2	2
NAA35	60560	broad.mit.edu	36	9	87823457	87823457	+	Silent	SNP	T	C	C			TCGA-76-4929-01	TCGA-76-4929-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:87823457T>C	uc004aoi.2	+	c.1938T>C	c.(1936-1938)TAT>TAC	p.Y646Y	NAA35_uc004aoj.2_Silent_p.Y646Y	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	646					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)	1														0.443662	442.432453	443.214427	126	158	TT		KEEP	---	---	---	---	capture			Silent	SNP	87823457	87823457	10518	9	T	C	C	49	49	NAA35	C	4	4
NOX1	27035	broad.mit.edu	36	X	100004395	100004395	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100004395G>A	uc004egj.1	-	c.408C>T	c.(406-408)TCC>TCT	p.S136S	NOX1_uc004egl.2_Silent_p.S136S|NOX1_uc010nne.1_Silent_p.S99S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	136	Extracellular (Potential).|Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|NADP metabolic process|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|NADP binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1														0.267884	472.172368	504.165277	176	481	GG		KEEP	---	---	---	---	capture			Silent	SNP	100004395	100004395	10960	23	G	A	A	43	43	NOX1	A	2	2
BHLHB9	80823	broad.mit.edu	36	X	101891533	101891533	+	Silent	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101891533C>T	uc004ejo.1	+	c.954C>T	c.(952-954)TGC>TGT	p.C318C	BHLHB9_uc004ejp.1_Silent_p.C318C|BHLHB9_uc010nog.1_Silent_p.C318C	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	318						cytoplasm|nucleus	binding			ovary(2)	2														0.541818	484.694608	485.113206	149	126	CC		KEEP	---	---	---	---	capture			Silent	SNP	101891533	101891533	1445	23	C	T	T	28	28	BHLHB9	T	2	2
MAGEA4	4103	broad.mit.edu	36	X	150843687	150843687	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150843687C>T	uc004fez.1	+	c.895C>T	c.(895-897)CGC>TGC	p.R299C	MAGEA4_uc004ffa.1_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.1_Missense_Mutation_p.R299C|MAGEA4_uc004ffc.1_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.1_Missense_Mutation_p.R299C|MAGEA4_uc010nth.1_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.272152	334.596012	356.762556	129	345	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150843687	150843687	9547	23	C	T	T	31	31	MAGEA4	T	1	1
CDKL5	6792	broad.mit.edu	36	X	18536939	18536939	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4929-01	TCGA-76-4929-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18536939C>T	uc004cym.1	+	c.2032C>T	c.(2032-2034)CGC>TGC	p.R678C	CDKL5_uc004cyn.1_Missense_Mutation_p.R678C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	678					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5	Hepatocellular(33;0.183)									244				0.26087	105.779944	114.111439	42	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18536939	18536939	3286	23	C	T	T	19	19	CDKL5	T	1	1
GYG2	8908	broad.mit.edu	36	X	2809206	2809206	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:2809206G>A	uc004cqs.1	+	c.1458G>A	c.(1456-1458)AAG>AAA	p.K486K	GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc004cqx.1_Silent_p.K384K|GYG2_uc010ndc.1_Silent_p.K264K	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	486					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.255319	32.980758	35.531082	12	35	GG		KEEP	---	---	---	---	capture			Silent	SNP	2809206	2809206	7186	23	G	A	A	35	35	GYG2	A	2	2
IL1RAPL1	11141	broad.mit.edu	36	X	29882660	29882660	+	Silent	SNP	A	G	G			TCGA-76-4929-01	TCGA-76-4929-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:29882660A>G	uc004dby.2	+	c.1302A>G	c.(1300-1302)CTA>CTG	p.L434L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	434	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.254167	188.678679	201.827748	61	179	AA		KEEP	---	---	---	---	capture			Silent	SNP	29882660	29882660	7962	23	A	G	G	14	14	IL1RAPL1	G	4	4
MXRA5	25878	broad.mit.edu	36	X	3239254	3239254	+	Silent	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3239254G>A	uc004crg.2	-	c.6990C>T	c.(6988-6990)GTC>GTT	p.V2330V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	2330	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.275362	291.286725	310.034177	114	300	GG		KEEP	---	---	---	---	capture			Silent	SNP	3239254	3239254	10397	23	G	A	A	37	37	MXRA5	A	1	1
GRIPAP1	56850	broad.mit.edu	36	X	48716582	48716582	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4929-01	TCGA-76-4929-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48716582G>A	uc004dly.1	-	c.2362C>T	c.(2362-2364)CTT>TTT	p.L788F		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	788	Potential.					early endosome				breast(2)|kidney(1)	3														0.258427	61.479499	66.188519	23	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48716582	48716582	7068	23	G	A	A	35	35	GRIPAP1	A	2	2
RBBP6	5930	broad.mit.edu	36	16	24488989	24488990	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-76-4929-01	TCGA-76-4929-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24488989_24488990delTT	uc002dmh.1	+	c.3477_3478delTT	c.(3475-3480)GATTTTfs	p.D1159fs	RBBP6_uc002dmi.1_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.1_Intron|RBBP6_uc002dmk.1_Frame_Shift_Del_p.D992fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1159_1160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.43			51	67				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	24488989	24488990	13564	16	TT	-	-	52	52	RBBP6	-	5	5
PIK3R1	5295	broad.mit.edu	36	5	67611224	67611224	+	Frame_Shift_Del	DEL	G	-	-			TCGA-76-4929-01	TCGA-76-4929-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:67611224_67611224delG	uc003jva.1	+	c.541_541delG	c.(541-543)GTTfs	p.V181fs	PIK3R1_uc003jvb.1_Frame_Shift_Del_p.V181fs	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	181	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)				p.H180fs(HEC265-Tumor)	370	TCGA GBM(4;<1E-8)			0.63			53	31				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	67611224	67611224	12342	5	G	-	-	40	40	PIK3R1	-	5	5
