Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PTEN	5728	broad.mit.edu	36	10	89643789	89643789	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89643789G>A	uc001kfb.1	+	c.107G>A	c.(106-108)GGA>GAA	p.G36E		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type.		G -> R (in endometrial hyperplasia).|G -> E (in glioma).		apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(12)|p.G36E(4)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36fs*18(1)|p.A34_G36del(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.407407	135.777634	136.587421	44	64	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	SNP	89643789	89643789	13192	10	G	A	A	41	41	PTEN	A	2	2
MUC2	4583	broad.mit.edu	36	11	1091144	1091144	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1091144G>A	uc001lsx.1	+	c.14629G>A	c.(14629-14631)GAC>AAC	p.D4877N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4877	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)			Pranlukast(DB01411)									0.414815	167.780108	168.634128	56	79	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	1091144	1091144	10369	11	G	A	A	37	37	MUC2	A	1	1
MADD	8567	broad.mit.edu	36	11	47302432	47302432	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47302432G>A	uc001ner.1	+	c.4583G>A	c.(4582-4584)CGC>CAC	p.R1528H	MADD_uc001neq.1_Missense_Mutation_p.R1469H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001ney.1_Missense_Mutation_p.R1469H|MADD_uc001nez.1_Missense_Mutation_p.R1425H|MADD_uc001new.1_Missense_Mutation_p.R1468H|MADD_uc001nex.1_Missense_Mutation_p.R1528H|MADD_uc009ylo.1_Missense_Mutation_p.R442H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1528					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10										5				0.33871	54.75658	56.182346	21	41	GG		KEEP	---	---	---	---	capture		Lung(87;0.182)	Missense_Mutation	SNP	47302432	47302432	9529	11	G	A	A	38	38	MADD	A	1	1
MS4A7	58475	broad.mit.edu	36	11	59907307	59907307	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59907307C>T	uc001npe.1	+	c.117C>T	c.(115-117)AAC>AAT	p.N39N	MS4A7_uc009ymx.1_Silent_p.N39N|MS4A7_uc001npf.1_Silent_p.N39N|MS4A7_uc001npg.1_Silent_p.N39N|MS4A7_uc001nph.1_Silent_p.N39N|MS4A14_uc001npi.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	39	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.368932	107.22709	108.780463	38	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	59907307	59907307	10259	11	C	T	T	19	19	MS4A7	T	1	1
NADSYN1	55191	broad.mit.edu	36	11	70869471	70869471	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70869471C>T	uc001oqn.1	+	c.896C>T	c.(895-897)CCC>CTC	p.P299L	NADSYN1_uc001oqo.1_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.1_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	299	CN hydrolase.				NAD biosynthetic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(79;763 1781 6490 50276)								0.326923	98.511989	101.276425	34	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70869471	70869471	10534	11	C	T	T	22	22	NADSYN1	T	2	2
OR10A6	390093	broad.mit.edu	36	11	7906060	7906060	+	Silent	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7906060G>A	uc001mft.1	-	c.726C>T	c.(724-726)GCC>GCT	p.A242A		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.5	132.776484	132.776484	41	41	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Silent	SNP	7906060	7906060	11300	11	G	A	A	39	39	OR10A6	A	1	1
C12orf50	160419	broad.mit.edu	36	12	86903847	86903847	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:86903847G>A	uc001tam.1	-	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V	C12orf50_uc001tan.2_Missense_Mutation_p.A361V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	346										ovary(1)	1														0.389908	245.025381	247.33975	85	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86903847	86903847	1739	12	G	A	A	38	38	C12orf50	A	1	1
TPTE2	93492	broad.mit.edu	36	13	18937688	18937688	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:18937688G>A	uc001umd.1	-	c.529C>T	c.(529-531)CGA>TGA	p.R177*	TPTE2_uc001ume.1_Nonsense_Mutation_p.R100*|TPTE2_uc009zzl.1_Nonsense_Mutation_p.R66*|TPTE2_uc009zzm.1_5'UTR|TPTE2_uc009zzk.1_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)												0.416667	76.463925	76.827842	25	35	GG		KEEP	---	---	---	---	capture		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	Nonsense_Mutation	SNP	18937688	18937688	16975	13	G	A	A	37	37	TPTE2	A	5	1
ZC3H13	23091	broad.mit.edu	36	13	45442545	45442545	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45442545C>T	uc001vas.1	-	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	ZC3H13_uc001vat.1_Missense_Mutation_p.R842H|ZC3H13_uc001vaq.1_5'Flank|ZC3H13_uc001var.1_De_novo_Start_OutOfFrame	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	842	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)				Esophageal Squamous(187;747 2077 11056 31291 44172)								0.312741	222.583766	230.66685	81	178	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	Missense_Mutation	SNP	45442545	45442545	18153	13	C	T	T	19	19	ZC3H13	T	1	1
SYNE2	23224	broad.mit.edu	36	14	63566503	63566503	+	Silent	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63566503G>A	uc001xgl.1	+	c.6852G>A	c.(6850-6852)GCG>GCA	p.A2284A	SYNE2_uc001xgm.1_Silent_p.A2284A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2284	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14														0.269231	58.839363	62.588277	21	57	GG		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Silent	SNP	63566503	63566503	15967	14	G	A	A	39	39	SYNE2	A	1	1
PROX2	283571	broad.mit.edu	36	14	74399183	74399183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74399183G>A	uc001xqr.1	-	c.1108C>T	c.(1108-1110)CAG>TAG	p.Q370*	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	370					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0														0.204819	37.159135	43.846815	17	66	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	Nonsense_Mutation	SNP	74399183	74399183	13004	14	G	A	A	47	47	PROX2	A	5	2
KCNK10	54207	broad.mit.edu	36	14	87799563	87799563	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87799563C>T	uc001xwm.1	-	c.138G>A	c.(136-138)CCG>CCA	p.P46P	KCNK10_uc001xwn.1_Silent_p.P46P|KCNK10_uc001xwo.1_Silent_p.P41P	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	41	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.227053	107.327808	121.48432	47	160	CC		KEEP	---	---	---	---	capture			Silent	SNP	87799563	87799563	8364	14	C	T	T	27	27	KCNK10	T	1	1
CHP2	63928	broad.mit.edu	36	16	23675269	23675269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23675269C>T	uc002dmb.1	+	c.412C>T	c.(412-414)CAG>TAG	p.Q138*		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	138	EF-hand 3.						calcium ion binding			central_nervous_system(1)	1														0.214286	38.460324	44.753566	18	66	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0144)	Nonsense_Mutation	SNP	23675269	23675269	3501	16	C	T	T	25	25	CHP2	T	5	2
CES1	1066	broad.mit.edu	36	16	54412915	54412915	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54412915G>A	uc002eil.1	-	c.559C>T	c.(559-561)CGG>TGG	p.R187W	CES1_uc002eim.1_Missense_Mutation_p.R186W|CES1_uc002ein.1_Missense_Mutation_p.R186W	NM_001025195	NP_001020366	P23141	EST1_HUMAN	carboxylesterase 1 isoform a precursor	186				R -> G (in Ref. 18; CAA37147).	regulation of synaptic transmission|response to toxin	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0					Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	NSCLC(162;1801 2756 42904 52896)								0.189189	29.204335	35.89589	14	60	GG		KEEP	---	---	---	---	capture		all cancers(182;0.13)|Epithelial(162;0.137)	Missense_Mutation	SNP	54412915	54412915	3402	16	G	A	A	39	39	CES1	A	1	1
SLC25A39	51629	broad.mit.edu	36	17	39756394	39756394	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39756394C>T	uc002ign.1	-	c.63G>A	c.(61-63)GGG>GGA	p.G21G	SLC25A39_uc002igm.1_Silent_p.G21G|SLC25A39_uc002igo.1_Silent_p.G21G|SLC25A39_uc010czu.1_Intron	NM_016016	NP_057100	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform b	21	Solcar 1.|Helical; Name=1; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0		Prostate(33;0.0233)												0.764706	47.184202	48.273739	13	4	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.189)	Silent	SNP	39756394	39756394	15000	17	C	T	T	22	22	SLC25A39	T	2	2
TP53	7157	broad.mit.edu	36	17	7519182	7519182	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519182C>T	uc002gim.2	-	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.1_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158H(55)|p.R158L(51)|p.R158P(9)|p.0?(6)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158C(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.36	98.261679	99.991211	36	64	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519182	7519182	16923	17	C	T	T	27	27	TP53	T	1	1
ALOX12B	242	broad.mit.edu	36	17	7921170	7921170	+	Silent	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7921170G>A	uc002gjy.1	-	c.1138C>T	c.(1138-1140)CTA>TTA	p.L380L		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	380	Lipoxygenase.				epidermis development|leukotriene biosynthetic process|oxidation-reduction process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0											Multiple Myeloma(8;0.094)			0.181818	7.720889	9.787745	4	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	7921170	7921170	540	17	G	A	A	34	34	ALOX12B	A	2	2
ASXL3	80816	broad.mit.edu	36	18	29577022	29577022	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29577022C>G	uc010dmg.1	+	c.3212C>G	c.(3211-3213)GCT>GGT	p.A1071G	ASXL3_uc002kxq.2_Missense_Mutation_p.A778G	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1071	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.2	6.490492	8.566768	5	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29577022	29577022	1087	18	C	G	G	28	28	ASXL3	G	3	3
CD22	933	broad.mit.edu	36	19	40527595	40527595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40527595C>T	uc010edt.1	+	c.2059C>T	c.(2059-2061)CGA>TGA	p.R687*	CD22_uc010edu.1_Nonsense_Mutation_p.R599*|CD22_uc010edv.1_Nonsense_Mutation_p.R687*|CD22_uc002nzb.2_Nonsense_Mutation_p.R510*|CD22_uc010edw.1_Nonsense_Mutation_p.R515*|CD22_uc010edx.1_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule	687	Extracellular (Potential).				cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)				OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.197581	91.346601	112.371091	49	199	CC		KEEP	---	---	---	---	capture	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Nonsense_Mutation	SNP	40527595	40527595	3112	19	C	T	T	27	27	CD22	T	5	1
SEMA6B	10501	broad.mit.edu	36	19	4506533	4506533	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4506533G>C	uc010duc.1	-	c.515C>G	c.(514-516)GCC>GGC	p.A172G	SEMA6B_uc010dud.1_Missense_Mutation_p.A172G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	172	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)												0.197917	48.367461	56.526253	19	77	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	4506533	4506533	14526	19	G	C	C	42	42	SEMA6B	C	3	3
GPR161	23432	broad.mit.edu	36	1	166332415	166332415	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166332415G>A	uc009wvo.1	-	c.1105C>T	c.(1105-1107)CGA>TGA	p.R369*	GPR161_uc001gfb.1_Nonsense_Mutation_p.R220*|GPR161_uc001gfc.1_Nonsense_Mutation_p.R352*|GPR161_uc001gfd.1_Nonsense_Mutation_p.R352*|GPR161_uc001gfe.1_Nonsense_Mutation_p.R352*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	352	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)													0.306452	103.107471	107.247509	38	86	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	166332415	166332415	6940	1	G	A	A	40	40	GPR161	A	5	1
TRIM58	25893	broad.mit.edu	36	1	246090610	246090610	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246090610C>T	uc001ido.1	+	c.489C>T	c.(487-489)AAC>AAT	p.N163N		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	163						intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)												0.211009	54.80018	63.193515	23	86	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		Silent	SNP	246090610	246090610	17077	1	C	T	T	19	19	TRIM58	T	1	1
CYP4B1	1580	broad.mit.edu	36	1	47052280	47052280	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47052280C>T	uc001cqn.2	+	c.733C>T	c.(733-735)CGC>TGC	p.R245C	CYP4B1_uc001cqm.2_Missense_Mutation_p.R244C|CYP4B1_uc009vym.1_Missense_Mutation_p.R230C|CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	244					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.236422	178.62553	198.485314	74	239	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47052280	47052280	4350	1	C	T	T	23	23	CYP4B1	T	1	1
SPSB1	80176	broad.mit.edu	36	1	9338808	9338808	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9338808G>A	uc001apu.1	+	c.271G>A	c.(271-273)GTC>ATC	p.V91I	SPSB1_uc001apv.1_Missense_Mutation_p.V91I	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	91	B30.2/SPRY.				intracellular signal transduction	cytoplasm					0	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.372727	235.520535	238.639434	82	138	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	9338808	9338808	15626	1	G	A	A	36	36	SPSB1	A	2	2
CHGB	1114	broad.mit.edu	36	20	5851619	5851619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5851619C>T	uc002wmg.1	+	c.829C>T	c.(829-831)CGA>TGA	p.R277*		NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	277						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.285714	25.235093	26.677722	10	25	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	5851619	5851619	3473	20	C	T	T	19	19	CHGB	T	5	1
ANGPT4	51378	broad.mit.edu	36	20	806921	806921	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0184-01	TCGA-06-0184-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:806921T>A	uc002wei.1	-	c.1103A>T	c.(1102-1104)CAC>CTC	p.H368L		NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4	368	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.210526	35.265543	41.15212	16	60	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	806921	806921	615	20	T	A	A	59	59	ANGPT4	A	4	4
CDC42EP1	11135	broad.mit.edu	36	22	36294328	36294328	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0184-01	TCGA-06-0184-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36294328A>C	uc003asz.2	+	c.731A>C	c.(730-732)AAC>ACC	p.N244T		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	244	4.|8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)													0.206897	11.231071	13.544603	6	23	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36294328	36294328	3203	22	A	C	C	2	2	CDC42EP1	C	4	4
EIF3L	51386	broad.mit.edu	36	22	36604061	36604061	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36604061C>T	uc003auf.1	+	c.1512C>T	c.(1510-1512)AGC>AGT	p.S504S	EIF3L_uc003aue.1_Silent_p.S504S|EIF3L_uc003aug.1_Silent_p.S396S|EIF3L_uc003auh.1_Silent_p.S237S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	504						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1														0.261411	159.017027	171.431677	63	178	CC		KEEP	---	---	---	---	capture			Silent	SNP	36604061	36604061	5213	22	C	T	T	27	27	EIF3L	T	1	1
GPR45	11250	broad.mit.edu	36	2	105225742	105225742	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:105225742G>A	uc002tco.1	+	c.995G>A	c.(994-996)CGC>CAC	p.R332H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)	2														0.285714	166.440293	175.651289	64	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105225742	105225742	6971	2	G	A	A	38	38	GPR45	A	1	1
ITGA4	3676	broad.mit.edu	36	2	182068887	182068887	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182068887C>T	uc002unu.1	+	c.1518C>T	c.(1516-1518)GGC>GGT	p.G506G	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	506	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.238806	148.584697	165.270033	64	204	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Silent	SNP	182068887	182068887	8182	2	C	T	T	25	25	ITGA4	T	2	2
ZDBF2	57683	broad.mit.edu	36	2	206883292	206883292	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206883292G>A	uc002vbp.2	+	c.5795G>A	c.(5794-5796)CGT>CAT	p.R1932H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1932							nucleic acid binding|zinc ion binding			ovary(3)	3														0.257353	84.754118	92.02062	35	101	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206883292	206883292	18187	2	G	A	A	40	40	ZDBF2	A	1	1
MCM2	4171	broad.mit.edu	36	3	128801070	128801070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128801070G>A	uc003ejp.1	+	c.226G>A	c.(226-228)GGC>AGC	p.G76S	MCM2_uc010hsl.1_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	76	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4														0.406977	113.309699	113.959881	35	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128801070	128801070	9775	3	G	A	A	47	47	MCM2	A	2	2
THRB	7068	broad.mit.edu	36	3	24206708	24206708	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:24206708C>T	uc003ccx.2	-	c.144G>A	c.(142-144)ACG>ACA	p.T48T	THRB_uc010hfe.1_Silent_p.T48T|THRB_uc003ccy.2_Silent_p.T48T|THRB_uc003ccz.2_Silent_p.T43T|THRB_uc003cdc.2_Silent_p.T43T|THRB_uc003cdd.2_Silent_p.T43T|THRB_uc003cde.1_Silent_p.T43T	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	48	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	Melanoma(21;896 1043 15021 37958)								0.253906	160.23557	174.326064	65	191	CC		KEEP	---	---	---	---	capture			Silent	SNP	24206708	24206708	16403	3	C	T	T	19	19	THRB	T	1	1
BSN	8927	broad.mit.edu	36	3	49667000	49667000	+	Silent	SNP	T	C	C			TCGA-06-0184-01	TCGA-06-0184-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49667000T>C	uc003cxe.2	+	c.5007T>C	c.(5005-5007)CGT>CGC	p.R1669R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1669					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.299065	97.164296	101.021408	32	75	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Silent	SNP	49667000	49667000	1561	3	T	C	C	57	57	BSN	C	4	4
BSN	8927	broad.mit.edu	36	3	49668013	49668013	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49668013G>A	uc003cxe.2	+	c.6020G>A	c.(6019-6021)GGT>GAT	p.G2007D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2007					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.359606	198.039472	201.55257	73	130	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Missense_Mutation	SNP	49668013	49668013	1561	3	G	A	A	44	44	BSN	A	2	2
CCDC66	285331	broad.mit.edu	36	3	56626435	56626435	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:56626435G>A	uc003dhu.1	+	c.1748G>A	c.(1747-1749)AGG>AAG	p.R583K	CCDC66_uc003dhx.1_Non-coding_Transcript|CCDC66_uc003dhy.1_Missense_Mutation_p.R336K|CCDC66_uc003dhz.1_Missense_Mutation_p.R583K|CCDC66_uc003dia.1_Missense_Mutation_p.R68K	NM_001012506	NP_001012524	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 2	700										breast(1)	1														0.225	46.005627	51.565413	18	62	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	Missense_Mutation	SNP	56626435	56626435	2961	3	G	A	A	35	35	CCDC66	A	2	2
CADPS	8618	broad.mit.edu	36	3	62835711	62835711	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62835711C>G	uc003dll.1	-	c.34G>C	c.(34-36)GAT>CAT	p.D12H	CADPS_uc003dlm.1_Missense_Mutation_p.D12H|CADPS_uc003dln.1_Missense_Mutation_p.D12H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	12					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)												0.190476	21.074916	24.836193	8	34	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	Missense_Mutation	SNP	62835711	62835711	2686	3	C	G	G	30	30	CADPS	G	3	3
PDZRN3	23024	broad.mit.edu	36	3	73756645	73756645	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0184-01	TCGA-06-0184-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:73756645A>G	uc003dpl.1	-	c.22T>C	c.(22-24)TTC>CTC	p.F8L		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	8							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)												0.25	11.692598	12.601267	4	12	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	Missense_Mutation	SNP	73756645	73756645	12130	3	A	G	G	3	3	PDZRN3	G	4	4
CNTN3	5067	broad.mit.edu	36	3	74618429	74618429	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:74618429G>A	uc003dpm.1	-	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3	76	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)												0.263736	127.518513	136.703744	48	134	GG		KEEP	---	---	---	---	capture		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	Missense_Mutation	SNP	74618429	74618429	3780	3	G	A	A	37	37	CNTN3	A	1	1
LARP1B	55132	broad.mit.edu	36	4	129218516	129218516	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:129218516G>C	uc003iga.1	+	c.166G>C	c.(166-168)GGT>CGT	p.G56R	LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ify.2_Missense_Mutation_p.G56R|LARP1B_uc003ifx.1_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	56							RNA binding				0														0.149425	25.01297	35.271558	13	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129218516	129218516	8952	4	G	C	C	47	47	LARP1B	C	3	3
PCDH18	54510	broad.mit.edu	36	4	138662190	138662190	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:138662190C>G	uc003ihe.2	-	c.2851G>C	c.(2851-2853)GGG>CGG	p.G951R	PCDH18_uc003ihf.2_Missense_Mutation_p.G943R|PCDH18_uc003ihg.2_Missense_Mutation_p.G730R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	951	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.242138	185.890653	205.198551	77	241	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138662190	138662190	11933	4	C	G	G	24	24	PCDH18	G	3	3
MATR3	9782	broad.mit.edu	36	5	138685565	138685565	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:138685565G>A	uc003ldw.1	+	c.1682G>A	c.(1681-1683)GGG>GAG	p.G561E	MATR3_uc010jfb.1_Missense_Mutation_p.G561E|MATR3_uc003ldu.1_Missense_Mutation_p.G561E|MATR3_uc003ldx.1_Missense_Mutation_p.G561E|MATR3_uc010jfc.1_Missense_Mutation_p.G561E|MATR3_uc003ldy.1_Missense_Mutation_p.G238E|MATR3_uc003ldz.1_Missense_Mutation_p.G561E|MATR3_uc003lea.1_Missense_Mutation_p.G561E|MATR3_uc003leb.1_Missense_Mutation_p.G223E|MATR3_uc003lec.1_Missense_Mutation_p.G238E	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	561	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1														0.282927	161.149999	169.836056	58	147	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Missense_Mutation	SNP	138685565	138685565	9721	5	G	A	A	43	43	MATR3	A	2	2
PCDHGC3	5098	broad.mit.edu	36	5	140836900	140836900	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140836900G>A	uc003lkv.1	+	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	345	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.255102	59.314504	64.65976	25	73	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140836900	140836900	11989	5	G	A	A	48	48	PCDHGC3	A	2	2
EBF1	1879	broad.mit.edu	36	5	158072635	158072635	+	Silent	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:158072635G>A	uc010jip.1	-	c.1290C>T	c.(1288-1290)CAC>CAT	p.H430H	EBF1_uc003lxl.2_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	430					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)												0.307692	128.755073	133.89064	48	108	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Silent	SNP	158072635	158072635	5066	5	G	A	A	40	40	EBF1	A	1	1
CDH18	1016	broad.mit.edu	36	5	19783018	19783018	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19783018C>T	uc003jgc.1	-	c.313G>A	c.(313-315)GAT>AAT	p.D105N	CDH18_uc003jgd.1_Missense_Mutation_p.D105N|CDH18_uc010iua.1_Missense_Mutation_p.D105N|CDH18_uc010itz.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	105	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.222857	95.435796	107.794221	39	136	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19783018	19783018	3232	5	C	T	T	31	31	CDH18	T	1	1
ADAMTS12	81792	broad.mit.edu	36	5	33718891	33718891	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33718891C>T	uc003jia.1	-	c.904G>A	c.(904-906)GAA>AAA	p.E302K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	302	Poly-Glu.|Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.281818	83.88036	88.584271	31	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33718891	33718891	258	5	C	T	T	31	31	ADAMTS12	T	1	1
REV3L	5980	broad.mit.edu	36	6	111803555	111803555	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0184-01	TCGA-06-0184-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111803555A>T	uc003puy.2	-	c.2696T>A	c.(2695-2697)TTT>TAT	p.F899Y	REV3L_uc003pux.2_Missense_Mutation_p.F821Y|REV3L_uc003puz.2_Missense_Mutation_p.F821Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	REV3-like, catalytic subunit of DNA polymerase	899					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(1)|skin(1)	4		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)												0.43125	200.146646	200.806664	69	91	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	Missense_Mutation	SNP	111803555	111803555	13710	6	A	T	T	1	1	REV3L	T	4	4
FGD2	221472	broad.mit.edu	36	6	37101629	37101629	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37101629C>T	uc010jwp.1	+	c.1542C>T	c.(1540-1542)TAC>TAT	p.Y514Y	FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc003onj.1_Silent_p.Y91Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	514	FYVE-type.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			lung(1)|pancreas(1)	2														0.395833	112.529555	113.441089	38	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	37101629	37101629	6070	6	C	T	T	19	19	FGD2	T	1	1
ZAN	7455	broad.mit.edu	36	7	100202591	100202591	+	Silent	SNP	G	T	T			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100202591G>T	uc003uwj.1	+	c.4635G>T	c.(4633-4635)TCG>TCT	p.S1545S	ZAN_uc003uwk.1_Silent_p.S1545S|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1545	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.147343	109.372491	158.767633	61	353	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Silent	SNP	100202591	100202591	18096	7	G	T	T	39	39	ZAN	T	3	3
CUL1	8454	broad.mit.edu	36	7	148088390	148088390	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148088390G>A	uc010lpg.1	+	c.658G>A	c.(658-660)GCA>ACA	p.A220T	CUL1_uc003wey.1_Missense_Mutation_p.A220T|CUL1_uc003wez.1_Missense_Mutation_p.A110T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)													0.301003	230.290805	240.8941	90	209	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Missense_Mutation	SNP	148088390	148088390	4214	7	G	A	A	46	46	CUL1	A	2	2
DNAH11	8701	broad.mit.edu	36	7	21665021	21665021	+	Silent	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21665021C>T	uc003svc.1	+	c.5190C>T	c.(5188-5190)TAC>TAT	p.Y1730Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1730	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.264706	22.620647	24.284232	9	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	21665021	21665021	4781	7	C	T	T	19	19	DNAH11	T	1	1
CNTLN	54875	broad.mit.edu	36	9	17125249	17125249	+	Silent	SNP	G	A	A			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:17125249G>A	uc003zmz.2	+	c.186G>A	c.(184-186)GGG>GGA	p.G62G	CNTLN_uc003zmx.2_Silent_p.G62G|CNTLN_uc003zmy.1_Silent_p.G62G|CNTLN_uc003zmw.1_Silent_p.G62G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	62						centriole|membrane	two-component sensor activity			pancreas(1)	1														0.388889	20.027693	20.219904	7	11	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;6.14e-10)	Silent	SNP	17125249	17125249	3777	9	G	A	A	44	44	CNTLN	A	2	2
TEK	7010	broad.mit.edu	36	9	27219172	27219172	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27219172C>T	uc003zqi.2	+	c.3317C>T	c.(3316-3318)ACG>ATG	p.T1106M		NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1106	Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T1106M(1)		ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)								493				0.269388	169.740294	181.499237	66	179	CC		KEEP	---	---	---	---	capture		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Missense_Mutation	SNP	27219172	27219172	16278	9	C	T	T	19	19	TEK	T	1	1
NFX1	4799	broad.mit.edu	36	9	33284757	33284757	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0184-01	TCGA-06-0184-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:33284757A>C	uc003zsr.1	+	c.365A>C	c.(364-366)CAG>CCG	p.Q122P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zso.1_Missense_Mutation_p.Q122P|NFX1_uc003zsp.1_Missense_Mutation_p.Q122P|NFX1_uc010mjr.1_Missense_Mutation_p.Q122P|NFX1_uc003zsq.1_Missense_Mutation_p.Q122P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	122					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.292254	229.205291	240.185205	83	201	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	Missense_Mutation	SNP	33284757	33284757	10787	9	A	C	C	7	7	NFX1	C	4	4
BTK	695	broad.mit.edu	36	X	100497740	100497740	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0184-01	TCGA-06-0184-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100497740C>T	uc010nno.1	-	c.1624G>A	c.(1624-1626)GCC>ACC	p.A542T	BTK_uc004ehf.1_Missense_Mutation_p.A8T|BTK_uc010nnh.1_Intron|BTK_uc010nni.1_Intron|BTK_uc004ehe.1_Intron|BTK_uc010nnj.1_Non-coding_Transcript|BTK_uc010nnk.1_Intron|BTK_uc010nnl.1_Intron|BTK_uc010nnm.1_Missense_Mutation_p.A78T|BTK_uc004ehg.1_Missense_Mutation_p.A508T|BTK_uc010nnn.1_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.1_Missense_Mutation_p.A508T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	508	Protein kinase.		A -> D (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A508T(1)		central_nervous_system(2)|ovary(1)|lung(1)	4										247				0.571429	320.610184	321.387294	100	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100497740	100497740	1591	23	C	T	T	28	28	BTK	T	2	2
PLXNB3	5365	broad.mit.edu	36	X	152689227	152689227	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0184-01	TCGA-06-0184-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152689227G>T	uc004fii.1	+	c.1946G>T	c.(1945-1947)AGT>ATT	p.S649I	PLXNB3_uc010nuk.1_Missense_Mutation_p.S672I	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3	649	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.173913	7.384723	9.694512	4	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152689227	152689227	12551	23	G	T	T	36	36	PLXNB3	T	3	3
