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
CNNM2	54805	broad.mit.edu	36	10	104668291	104668291	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:104668291C>G	uc001kwm.1	+	c.64C>G	c.(64-66)CTG>GTG	p.L22V	CNNM2_uc001kwn.1_Missense_Mutation_p.L22V|CNNM2_uc001kwl.1_Missense_Mutation_p.L22V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	22					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)												0.7	24.128854	24.486331	7	3	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Missense_Mutation	SNP	104668291	104668291	3751	10	C	G	G	20	20	CNNM2	G	3	3
CHAT	1103	broad.mit.edu	36	10	50505694	50505694	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:50505694G>A	uc001jhz.2	+	c.968G>A	c.(967-969)CGT>CAT	p.R323H	CHAT_uc001jhv.1_Missense_Mutation_p.R205H|CHAT_uc001jhx.1_Missense_Mutation_p.R205H|CHAT_uc001jhy.1_Missense_Mutation_p.R205H|CHAT_uc001jia.2_Missense_Mutation_p.R241H	NM_020549	NP_066266	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(1)		central_nervous_system(3)	3		all_neural(218;0.107)			Choline(DB00122)									0.822785	432.03097	447.532461	130	28	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;0.000585)	Missense_Mutation	SNP	50505694	50505694	3447	10	G	A	A	40	40	CHAT	A	1	1
TYSND1	219743	broad.mit.edu	36	10	71575213	71575213	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:71575213G>A	uc001jqr.1	-	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	TYSND1_uc001jqq.1_Intron|TYSND1_uc001jqs.1_Missense_Mutation_p.A379V|TYSND1_uc001jqt.1_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	379	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1														0.875	24.553079	24.792368	7	1	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71575213	71575213	17374	10	G	A	A	42	42	TYSND1	A	2	2
KIAA0913	23053	broad.mit.edu	36	10	75230912	75230912	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75230912C>T	uc001jve.1	+	c.5278C>T	c.(5278-5280)CCG>TCG	p.P1760S	KIAA0913_uc009xrl.1_Missense_Mutation_p.P1755S|KIAA0913_uc001jvf.1_Missense_Mutation_p.P1573S|KIAA0913_uc001jvh.1_Non-coding_Transcript|KIAA0913_uc001jvi.1_Missense_Mutation_p.P1182S|KIAA0913_uc001jvj.1_Missense_Mutation_p.P1147L|KIAA0913_uc009xrn.1_3'UTR	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1755							zinc ion binding			breast(1)	1	Prostate(51;0.0112)													0.5	6.950579	6.950578	2	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75230912	75230912	8507	10	C	T	T	22	22	KIAA0913	T	2	2
TEAD1	7003	broad.mit.edu	36	11	12857946	12857946	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:12857946C>T	uc001mkj.2	+	c.401C>T	c.(400-402)ACC>ATC	p.T134I	TEAD1_uc001mkk.2_Missense_Mutation_p.T53I|TEAD1_uc009ygl.1_Missense_Mutation_p.T28I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	149	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0														0.333333	73.097403	75.090356	27	54	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	Missense_Mutation	SNP	12857946	12857946	16265	11	C	T	T	18	18	TEAD1	T	2	2
OR51F1	256892	broad.mit.edu	36	11	4746827	4746827	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4746827T>A	uc001lzl.1	-	c.897A>T	c.(895-897)AAA>AAT	p.K299N		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	299						integral to membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)												0.404762	144.684541	145.655339	51	75	TT		KEEP	---	---	---	---	capture		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	4746827	4746827	11506	11	T	A	A	60	60	OR51F1	A	4	4
OR5W2	390148	broad.mit.edu	36	11	55438350	55438350	+	Silent	SNP	A	G	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55438350A>G	uc001nib.1	-	c.285T>C	c.(283-285)TAT>TAC	p.Y95Y		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.492754	216.391415	216.39778	68	70	AA		KEEP	---	---	---	---	capture			Silent	SNP	55438350	55438350	11595	11	A	G	G	8	8	OR5W2	G	4	4
CD248	57124	broad.mit.edu	36	11	65840661	65840661	+	Silent	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65840661G>A	uc001ohm.1	-	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	138	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)									0.444444	46.595799	46.692409	16	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	65840661	65840661	3117	11	G	A	A	38	38	CD248	A	1	1
KRT74	121391	broad.mit.edu	36	12	51250830	51250830	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51250830C>T	uc001sap.1	-	c.898G>A	c.(898-900)GAC>AAC	p.D300N		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	300	Rod.|Linker 12.					keratin filament	structural molecule activity			ovary(1)	1														0.308642	69.041756	71.687128	25	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.191)	Missense_Mutation	SNP	51250830	51250830	8802	12	C	T	T	30	30	KRT74	T	2	2
C1S	716	broad.mit.edu	36	12	7047685	7047685	+	Silent	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7047685G>A	uc001qsj.1	+	c.1536G>A	c.(1534-1536)CCG>CCA	p.P512P	C1S_uc001qsl.1_Silent_p.P512P|C1S_uc009zfr.1_Silent_p.P345P|C1S_uc001qsk.1_Silent_p.P512P|C1S_uc009zfs.1_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GBM(156;750 1943 12971 24779 31015)								0.551724	108.206245	108.341359	32	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	7047685	7047685	2041	12	G	A	A	39	39	C1S	A	1	1
A2M	2	broad.mit.edu	36	12	9145437	9145437	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9145437T>C	uc001qvk.1	-	c.1367A>G	c.(1366-1368)AAG>AGG	p.K456R	A2M_uc009zgk.1_Missense_Mutation_p.K306R	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	456					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.615385	148.316168	149.074783	40	25	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9145437	9145437	5	12	T	C	C	56	56	A2M	C	4	4
FLT3	2322	broad.mit.edu	36	13	27542701	27542701	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27542701G>A	uc001urw.1	-	c.92C>T	c.(91-93)CCT>CTT	p.P31L	FLT3_uc010aao.1_Non-coding_Transcript	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	31	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.P31L(1)		haematopoietic_and_lymphoid_tissue(8072)|ovary(2)|lung(1)|central_nervous_system(1)	8076	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)			Sorafenib(DB00398)|Sunitinib(DB01268)					630				0.462963	250.612074	250.805522	75	87	GG		KEEP	---	---	---	---	capture	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Missense_Mutation	SNP	27542701	27542701	6184	13	G	A	A	35	35	FLT3	A	2	2
AHNAK2	113146	broad.mit.edu	36	14	104491819	104491819	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104491819C>T	uc010axc.1	-	c.1014G>A	c.(1012-1014)TCG>TCA	p.S338S	AHNAK2_uc001ypx.2_Silent_p.S238S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	338						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.52381	66.350029	66.370872	22	20	CC		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Silent	SNP	104491819	104491819	418	14	C	T	T	31	31	AHNAK2	T	1	1
GPR132	29933	broad.mit.edu	36	14	104588594	104588594	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104588594C>T	uc001yqd.1	-	c.925G>A	c.(925-927)GTG>ATG	p.V309M	GPR132_uc001yqe.1_Missense_Mutation_p.V300M|GPR132_uc001yqc.1_Missense_Mutation_p.V121M	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)												0.389474	104.269563	105.279745	37	58	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	Missense_Mutation	SNP	104588594	104588594	6916	14	C	T	T	19	19	GPR132	T	1	1
C14orf183	196913	broad.mit.edu	36	14	49620402	49620402	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49620402C>T	uc001wxm.1	-	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	231											0														0.470588	24.798997	24.811763	8	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49620402	49620402	1815	14	C	T	T	27	27	C14orf183	T	1	1
GPR65	8477	broad.mit.edu	36	14	87547755	87547755	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:87547755A>T	uc001xvv.1	+	c.811A>T	c.(811-813)ATG>TTG	p.M271L	GPR65_uc010ate.1_Missense_Mutation_p.M271L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	271	Extracellular (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0														0.414966	187.749697	188.677566	61	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87547755	87547755	6981	14	A	T	T	4	4	GPR65	T	4	4
SERPINA1	5265	broad.mit.edu	36	14	93915590	93915590	+	Silent	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93915590G>A	uc001ycx.2	-	c.1029C>T	c.(1027-1029)TCC>TCT	p.S343S	SERPINA1_uc001ycw.2_Non-coding_Transcript|SERPINA1_uc010auw.1_Silent_p.S343S|SERPINA1_uc010aux.1_Silent_p.S343S|SERPINA1_uc001ycy.2_Silent_p.S343S|SERPINA1_uc010auy.1_Silent_p.S343S|SERPINA1_uc001ycz.2_Silent_p.S343S|SERPINA1_uc010auz.1_Silent_p.S343S|SERPINA1_uc010ava.1_Silent_p.S343S|SERPINA1_uc001ydb.2_Silent_p.S343S|SERPINA1_uc010avb.1_Silent_p.S343S|SERPINA1_uc001ydc.2_Silent_p.S343S|SERPINA1_uc001yda.1_Silent_p.S343S	NM_000295	NP_001121179	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	343					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)			Alpha-1-proteinase inhibitor(DB00058)									0.392857	234.549255	236.513327	77	119	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Silent	SNP	93915590	93915590	14574	14	G	A	A	39	39	SERPINA1	A	1	1
TCL1B	9623	broad.mit.edu	36	14	95222684	95222684	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:95222684C>T	uc001yez.1	+	c.127C>T	c.(127-129)CGT>TGT	p.R43C	TCL6_uc001yew.1_Intron|TCL6_uc001yex.1_Intron|TCL6_uc010avj.1_Intron|TCL6_uc001yey.1_Intron|TCL1B_uc001yfa.1_Missense_Mutation_p.R43C	NM_004918	NP_954676	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	43										ovary(1)	1		all_cancers(154;0.103)												0.56	87.993649	88.14966	28	22	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	Missense_Mutation	SNP	95222684	95222684	16231	14	C	T	T	27	27	TCL1B	T	1	1
THBS1	7057	broad.mit.edu	36	15	37666983	37666983	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:37666983A>C	uc001zkh.1	+	c.1264A>C	c.(1264-1266)ACC>CCC	p.T422P	THBS1_uc010bbi.1_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	422	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of oxygen and reactive oxygen species metabolic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			central_nervous_system(3)|ovary(2)	5		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)			Becaplermin(DB00102)									0.263158	6.987525	8.023064	5	14	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Missense_Mutation	SNP	37666983	37666983	16381	15	A	C	C	10	10	THBS1	C	4	4
MYH11	4629	broad.mit.edu	36	16	15743025	15743025	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15743025C>T	uc002ddx.1	-	c.2676G>A	c.(2674-2676)CTG>CTA	p.L892L	MYH11_uc002ddv.1_Silent_p.L892L|MYH11_uc002ddw.1_Silent_p.L885L|MYH11_uc002ddy.1_Silent_p.L885L|MYH11_uc010bvg.1_Silent_p.L717L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	885	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.402235	205.136283	206.639381	72	107	CC		KEEP	---	---	---	---	capture			Silent	SNP	15743025	15743025	10426	16	C	T	T	29	29	MYH11	T	2	2
GLIS2	84662	broad.mit.edu	36	16	4326956	4326956	+	Silent	SNP	C	A	A			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4326956C>A	uc002cwc.1	+	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	335					cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	promoter binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription activator activity|zinc ion binding				0														0.533333	7.445047	7.428074	8	7	CC		KEEP	---	---	---	---	capture			Silent	SNP	4326956	4326956	6714	16	C	A	A	21	21	GLIS2	A	3	3
NDRG4	65009	broad.mit.edu	36	16	57095558	57095558	+	Splice_Site_SNP	SNP	G	C	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:57095558G>C	uc002enm.1	+	c.284_splice	c.e5-1	p.H95_splice	NDRG4_uc002enk.1_Splice_Site_SNP_p.H75_splice|NDRG4_uc002enl.1_Splice_Site_SNP|NDRG4_uc002eno.1_Splice_Site_SNP_p.H43_splice|NDRG4_uc002enp.1_Splice_Site_SNP_p.H43_splice|NDRG4_uc010cdk.1_Splice_Site_SNP_p.D61_splice|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061			NDRG family member 4 isoform 1						cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm					0														0.39011	242.889041	244.812927	71	111	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	57095558	57095558	10653	16	G	C	C	33	33	NDRG4	C	5	3
CDYL2	124359	broad.mit.edu	36	16	79204028	79204028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79204028G>A	uc002ffs.1	-	c.1214C>T	c.(1213-1215)GCG>GTG	p.A405V		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	405					chromatin assembly or disassembly	chromatin|nucleus	catalytic activity|chromatin binding|protein binding			central_nervous_system(1)	1														0.433735	106.324829	106.633918	36	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79204028	79204028	3319	16	G	A	A	38	38	CDYL2	A	1	1
RARA	5914	broad.mit.edu	36	17	35765909	35765909	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35765909C>T	uc002hum.1	+	c.1294C>T	c.(1294-1296)CGG>TGG	p.R432W	RARA_uc002huk.1_Missense_Mutation_p.R432W|RARA_uc002hul.2_Missense_Mutation_p.R432W|RARA_uc002hun.1_Missense_Mutation_p.R427W	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	432					apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)			Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.571429	8.445698	8.469614	4	3	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.00143)		Missense_Mutation	SNP	35765909	35765909	13512	17	C	T	T	27	27	RARA	T	1	1
GNGT2	2793	broad.mit.edu	36	17	44639766	44639766	+	Silent	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44639766G>A	uc002ioo.1	-	c.18C>T	c.(16-18)AGC>AGT	p.S6S	ABI3_uc002iop.1_5'Flank|ABI3_uc002ioq.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	6					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0														0.425474	447.646342	449.425101	157	212	GG		KEEP	---	---	---	---	capture	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		Silent	SNP	44639766	44639766	6803	17	G	A	A	38	38	GNGT2	A	1	1
LLGL2	3993	broad.mit.edu	36	17	71082313	71082313	+	Silent	SNP	C	T	T	rs1126939	by-cluster,by-frequency,by-hapmap,by-1000genomes	TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71082313C>T	uc002joh.1	+	c.3024C>T	c.(3022-3024)GCC>GCT	p.A1008A	LLGL2_uc002joi.1_Missense_Mutation_p.P994L|LLGL2_uc010dgg.1_Silent_p.A1008A|LLGL2_uc002joj.1_Missense_Mutation_p.P983L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	1008					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)													0.583333	68.778269	68.996157	21	15	CC		KEEP	---	---	---	---	capture	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		Silent	SNP	71082313	71082313	9163	17	C	T	T	23	23	LLGL2	T	1	1
NFATC1	4772	broad.mit.edu	36	18	75328531	75328531	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75328531C>T	uc002lnf.1	+	c.2014C>T	c.(2014-2016)CGA>TGA	p.R672*	NFATC1_uc002lnd.1_Nonsense_Mutation_p.R685*|NFATC1_uc002lne.1_Nonsense_Mutation_p.R213*|NFATC1_uc002lng.1_Nonsense_Mutation_p.R672*|NFATC1_uc002lnc.1_Nonsense_Mutation_p.R685*	NM_172387	NP_765975	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	685					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)				GBM(151;1210 2593 28719 45011)				1639				0.169811	11.740482	17.223759	9	44	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Nonsense_Mutation	SNP	75328531	75328531	10761	18	C	T	T	27	27	NFATC1	T	5	1
ZNF653	115950	broad.mit.edu	36	19	11459332	11459332	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11459332C>T	uc002mrz.1	-	c.946G>A	c.(946-948)GGC>AGC	p.G316S		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						Pancreas(83;980 1446 4542 6441 43352)								0.320312	118.339354	122.005956	41	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11459332	11459332	18661	19	C	T	T	23	23	ZNF653	T	1	1
ZNF829	374899	broad.mit.edu	36	19	42074937	42074937	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42074937A>G	uc002ofa.1	-	c.596T>C	c.(595-597)GTT>GCT	p.V199A	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	199	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)													0.31383	189.352979	195.1539	59	129	AA		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42074937	42074937	18781	19	A	G	G	2	2	ZNF829	G	4	4
UBXN6	80700	broad.mit.edu	36	19	4397164	4397164	+	Missense_Mutation	SNP	G	C	C	rs34179017	unknown	TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4397164G>C	uc002man.1	-	c.1082C>G	c.(1081-1083)GCG>GGG	p.A361G	UBXN6_uc010dty.1_Missense_Mutation_p.A265G|UBXN6_uc002mam.1_Missense_Mutation_p.A308G	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	361	UBX.					microtubule organizing center|nucleus	protein binding				0														0.258065	8.945293	10.638444	8	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4397164	4397164	17475	19	G	C	C	38	38	UBXN6	C	3	3
MARK4	57787	broad.mit.edu	36	19	50473028	50473028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50473028G>A	uc002pba.1	+	c.794G>A	c.(793-795)CGG>CAG	p.R265Q	MARK4_uc002paz.1_Intron|MARK4_uc002pbb.1_Missense_Mutation_p.R265Q|MARK4_uc002pbc.1_Missense_Mutation_p.R131Q	NM_031417	NP_113605	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	265	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death|protein phosphorylation	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)							p.R265Q(22RV1-Tumor)	167				0.306358	142.765863	148.520305	53	120	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	Missense_Mutation	SNP	50473028	50473028	9698	19	G	A	A	39	39	MARK4	A	1	1
SLC8A2	6543	broad.mit.edu	36	19	52652628	52652628	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52652628C>T	uc002pgx.1	-	c.711G>A	c.(709-711)CCG>CCA	p.P237P	SLC8A2_uc010ele.1_Silent_p.P237P	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2	237	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(1)	1		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)												0.210526	26.97779	31.390093	12	45	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	Silent	SNP	52652628	52652628	15204	19	C	T	T	23	23	SLC8A2	T	1	1
SLC17A7	57030	broad.mit.edu	36	19	54625704	54625704	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54625704C>T	uc002pnp.1	-	c.1567G>A	c.(1567-1569)GAA>AAA	p.E523K	SLC17A7_uc002pno.1_Missense_Mutation_p.E185K	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	523	Cytoplasmic (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)												0.276786	79.777154	84.799821	31	81	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	Missense_Mutation	SNP	54625704	54625704	14918	19	C	T	T	31	31	SLC17A7	T	1	1
KLK14	43847	broad.mit.edu	36	19	56274697	56274697	+	Missense_Mutation	SNP	C	T	T	rs61998181	unknown	TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56274697C>T	uc002pvs.1	-	c.335G>A	c.(334-336)CGT>CAT	p.R112H		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	112	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)				GBM(117;2161 2172 2448 22911)								0.184211	15.306337	18.858156	7	31	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	Missense_Mutation	SNP	56274697	56274697	8716	19	C	T	T	19	19	KLK14	T	1	1
SIGLEC8	27181	broad.mit.edu	36	19	56650550	56650550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56650550G>A	uc002pwt.1	-	c.985C>T	c.(985-987)CGA>TGA	p.R329*	SIGLEC8_uc010eox.1_Nonsense_Mutation_p.R236*|SIGLEC8_uc002pwu.2_Non-coding_Transcript	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	329	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)												0.298851	73.851201	76.977521	26	61	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Nonsense_Mutation	SNP	56650550	56650550	14809	19	G	A	A	39	39	SIGLEC8	A	5	1
ZNF813	126017	broad.mit.edu	36	19	58686503	58686503	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:58686503G>A	uc002qbu.2	+	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	402	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1														0.290179	170.690294	179.523979	65	159	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00619)	Missense_Mutation	SNP	58686503	58686503	18773	19	G	A	A	40	40	ZNF813	A	1	1
ZNF274	10782	broad.mit.edu	36	19	63415710	63415710	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63415710C>T	uc002qrq.1	+	c.1351C>T	c.(1351-1353)CGC>TGC	p.R451C	ZNF274_uc002qrr.1_Missense_Mutation_p.R419C|ZNF274_uc002qrs.1_Missense_Mutation_p.R346C|ZNF274_uc010eum.1_Missense_Mutation_p.R210C	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	451					regulation of transcription, DNA-dependent|viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)												0.258621	114.407672	123.583861	45	129	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	Missense_Mutation	SNP	63415710	63415710	18401	19	C	T	T	27	27	ZNF274	T	1	1
MUC16	94025	broad.mit.edu	36	19	8948317	8948317	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8948317A>G	uc002mkp.1	-	c.4498T>C	c.(4498-4500)TCA>CCA	p.S1500P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1500	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.33871	487.092848	497.075389	147	287	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8948317	8948317	10367	19	A	G	G	9	9	MUC16	G	4	4
HEATR1	55127	broad.mit.edu	36	1	234787256	234787256	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234787256C>T	uc001hyd.1	-	c.5217G>A	c.(5215-5217)TCG>TCA	p.S1739S	HEATR1_uc009xgh.1_Silent_p.S901S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1739					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)												0.327869	57.382352	58.983426	20	41	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		Silent	SNP	234787256	234787256	7310	1	C	T	T	19	19	HEATR1	T	1	1
RYR2	6262	broad.mit.edu	36	1	235607309	235607309	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235607309G>A	uc001hyl.1	+	c.527G>A	c.(526-528)CGA>CAA	p.R176Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	176	Cytoplasmic (By similarity).|MIR 2.		R -> Q (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.44	65.741037	65.898175	22	28	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235607309	235607309	14249	1	G	A	A	37	37	RYR2	A	1	1
RNF11	26994	broad.mit.edu	36	1	51475127	51475127	+	Silent	SNP	G	C	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:51475127G>C	uc001csi.2	+	c.111G>C	c.(109-111)CCG>CCC	p.P37P		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	37	WW-binding.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0														0.285714	6.469839	7.065183	4	10	GG		KEEP	---	---	---	---	capture			Silent	SNP	51475127	51475127	13901	1	G	C	C	38	38	RNF11	C	3	3
DTD1	92675	broad.mit.edu	36	20	18524672	18524672	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18524672C>T	uc002wrf.2	+	c.157C>T	c.(157-159)CGT>TGT	p.R53C		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	53					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2														0.185484	48.463969	59.953496	23	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18524672	18524672	4970	20	C	T	T	27	27	DTD1	T	1	1
XKR7	343702	broad.mit.edu	36	20	30048692	30048692	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30048692G>A	uc002wxe.1	+	c.1511G>A	c.(1510-1512)CGG>CAG	p.R504Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	504						integral to membrane				ovary(1)|breast(1)	2														0.29932	118.948511	124.237127	44	103	GG		KEEP	---	---	---	---	capture	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		Missense_Mutation	SNP	30048692	30048692	18017	20	G	A	A	39	39	XKR7	A	1	1
DNMT3B	1789	broad.mit.edu	36	20	30850070	30850070	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30850070G>A	uc002wyc.1	+	c.1634G>A	c.(1633-1635)CGC>CAC	p.R545H	DNMT3B_uc002wyd.1_Missense_Mutation_p.R525H|DNMT3B_uc002wye.1_Missense_Mutation_p.R525H|DNMT3B_uc010gee.1_Non-coding_Transcript|DNMT3B_uc010gef.1_Non-coding_Transcript|DNMT3B_uc002wyf.1_Missense_Mutation_p.R537H|DNMT3B_uc002wyg.1_Missense_Mutation_p.R244H|DNMT3B_uc010geg.1_5'Flank|DNMT3B_uc010geh.1_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	545	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		protein binding|transcription corepressor activity|zinc ion binding			ovary(2)|lung(1)	3									p.R545H(CL40-Tumor)	1211				0.310078	101.073196	105.207363	40	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30850070	30850070	4860	20	G	A	A	38	38	DNMT3B	A	1	1
COL3A1	1281	broad.mit.edu	36	2	189567248	189567248	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:189567248G>A	uc002uqj.1	+	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q	COL3A1_uc010frw.1_Non-coding_Transcript	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	413	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13					Collagenase(DB00048)|Palifermin(DB00039)					1079				0.351351	112.949145	115.087087	39	72	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Missense_Mutation	SNP	189567248	189567248	3826	2	G	A	A	39	39	COL3A1	A	1	1
CRYBA2	1412	broad.mit.edu	36	2	219565117	219565117	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219565117C>G	uc002vjj.1	-	c.254G>C	c.(253-255)AGC>ACC	p.S85T	CRYBA2_uc002vjk.1_Missense_Mutation_p.S85T	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	85	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)												0.5	12.074679	12.074679	5	5	CC		KEEP	---	---	---	---	capture		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219565117	219565117	4047	2	C	G	G	28	28	CRYBA2	G	3	3
ECEL1	9427	broad.mit.edu	36	2	233055551	233055551	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233055551G>A	uc002vsv.2	-	c.1697C>T	c.(1696-1698)CCC>CTC	p.P566L	ECEL1_uc010fya.1_Missense_Mutation_p.P564L|ECEL1_uc010fyb.1_Missense_Mutation_p.P273L	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	566	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.453988	229.750045	230.047146	74	89	GG		KEEP	---	---	---	---	capture		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Missense_Mutation	SNP	233055551	233055551	5078	2	G	A	A	43	43	ECEL1	A	2	2
EMILIN1	11117	broad.mit.edu	36	2	27159963	27159963	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27159963G>A	uc002rii.2	+	c.2020G>A	c.(2020-2022)GAT>AAT	p.D674N	EMILIN1_uc002rik.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	674					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.445545	130.061731	130.322445	45	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27159963	27159963	5285	2	G	A	A	45	45	EMILIN1	A	2	2
FBLN2	2199	broad.mit.edu	36	3	13654192	13654192	+	Silent	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13654192G>A	uc003bya.1	+	c.3468G>A	c.(3466-3468)GCG>GCA	p.A1156A	FBLN2_uc003byb.1_Silent_p.A1109A	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.410256	41.890516	42.165016	16	23	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Silent	SNP	13654192	13654192	5935	3	G	A	A	38	38	FBLN2	A	1	1
PRR23B	389151	broad.mit.edu	36	3	140221788	140221788	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:140221788C>T	uc003esy.1	-	c.406G>A	c.(406-408)GTC>ATC	p.V136I		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	hypothetical protein LOC389151	136										breast(1)	1														0.370787	93.453398	94.758352	33	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140221788	140221788	13043	3	C	T	T	19	19	PRR23B	T	1	1
P2RY13	53829	broad.mit.edu	36	3	152528671	152528671	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:152528671T>C	uc003eyu.1	-	c.800A>G	c.(799-801)GAC>GGC	p.D267G	MED12L_uc003eyp.1_Intron|P2RY13_uc003eyv.1_Missense_Mutation_p.D267G	NM_023914	NP_795713	Q9BPV8	P2Y13_HUMAN	Putative G protein-coupled receptor GPCR1.	288	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)	3														0.415663	237.953549	238.982597	69	97	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		Missense_Mutation	SNP	152528671	152528671	11763	3	T	C	C	58	58	P2RY13	C	4	4
MFI2	4241	broad.mit.edu	36	3	198221079	198221079	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:198221079C>T	uc003fxk.2	-	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	444	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)													0.328571	64.297132	66.1232	23	47	CC		KEEP	---	---	---	---	capture	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	Silent	SNP	198221079	198221079	9912	3	C	T	T	23	23	MFI2	T	1	1
TGM4	7047	broad.mit.edu	36	3	44904236	44904236	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44904236C>T	uc003coc.2	+	c.245C>T	c.(244-246)ACG>ATG	p.T82M	TGM4_uc003coa.2_Missense_Mutation_p.T82M|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	82					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1					L-Glutamine(DB00130)									0.362069	60.658726	61.629972	21	37	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	Missense_Mutation	SNP	44904236	44904236	16360	3	C	T	T	19	19	TGM4	T	1	1
CACNA1D	776	broad.mit.edu	36	3	53731413	53731413	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53731413G>A	uc003dgu.2	+	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H	CACNA1D_uc003dgv.2_Missense_Mutation_p.R513H|CACNA1D_uc003dgy.2_Missense_Mutation_p.R513H|CACNA1D_uc003dgw.2_Missense_Mutation_p.R180H	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	513	Cytoplasmic (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7					Verapamil(DB00661)									0.43299	123.740173	124.118456	42	55	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Missense_Mutation	SNP	53731413	53731413	2657	3	G	A	A	38	38	CACNA1D	A	1	1
GLRA3	8001	broad.mit.edu	36	4	175886333	175886333	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:175886333G>A	uc003ity.1	-	c.359C>T	c.(358-360)CCC>CTC	p.P120L	GLRA3_uc003itz.1_Missense_Mutation_p.P120L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	120	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)			Glycine(DB00145)									0.413978	245.245317	246.446394	77	109	GG		KEEP	---	---	---	---	capture		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Missense_Mutation	SNP	175886333	175886333	6724	4	G	A	A	43	43	GLRA3	A	2	2
ACSL6	23305	broad.mit.edu	36	5	131354546	131354546	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131354546G>C	uc003kvx.1	-	c.284C>G	c.(283-285)GCA>GGA	p.A95G	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc010jdn.1_Missense_Mutation_p.A70G|ACSL6_uc003kvy.1_Missense_Mutation_p.A95G|ACSL6_uc010jdo.1_Missense_Mutation_p.A70G|ACSL6_uc003kvz.1_Missense_Mutation_p.A35G|ACSL6_uc003kwa.1_Missense_Mutation_p.A81G|ACSL6_uc003kwb.1_Missense_Mutation_p.A35G|ACSL6_uc003kwc.1_Missense_Mutation_p.A35G|ACSL6_uc003kwd.1_Missense_Mutation_p.A70G	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	70	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)								264				0.227273	10.874488	12.369181	5	17	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	131354546	131354546	182	5	G	C	C	46	46	ACSL6	C	3	3
KCTD16	57528	broad.mit.edu	36	5	143833613	143833613	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:143833613C>T	uc003lnm.1	+	c.1030C>T	c.(1030-1032)CGT>TGT	p.R344C	KCTD16_uc003lnn.1_Missense_Mutation_p.R344C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	344						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)	3		all_hematologic(541;0.118)												0.495413	170.638941	170.640993	54	55	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Missense_Mutation	SNP	143833613	143833613	8409	5	C	T	T	23	23	KCTD16	T	1	1
PLEKHG4B	153478	broad.mit.edu	36	5	214944	214944	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:214944G>A	uc003jak.2	+	c.1466G>A	c.(1465-1467)CGT>CAT	p.R489H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	489					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1														0.357143	72.055368	73.313715	25	45	GG		KEEP	---	---	---	---	capture	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	Missense_Mutation	SNP	214944	214944	12498	5	G	A	A	40	40	PLEKHG4B	A	1	1
UGT3A2	167127	broad.mit.edu	36	5	36071585	36071585	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:36071585C>T	uc003jjz.1	-	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H	UGT3A1_uc003jjx.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide	515	Cytoplasmic (Potential).		R -> H (in a colorectal cancer sample; somatic mutation).			integral to membrane	glucuronosyltransferase activity	p.R515H(2)		ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)													0.325581	37.136574	38.296518	14	29	CC		KEEP	---	---	---	---	capture	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	36071585	36071585	17522	5	C	T	T	19	19	UGT3A2	T	1	1
DST	667	broad.mit.edu	36	6	56564994	56564994	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56564994G>C	uc003pcz.2	-	c.5957C>G	c.(5956-5958)TCT>TGT	p.S1986C	DST_uc003pcy.2_Missense_Mutation_p.S1660C|DST_uc010kaa.1_Non-coding_Transcript	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	4072	Spectrin 3.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.380952	52.389552	52.911856	16	26	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Missense_Mutation	SNP	56564994	56564994	4967	6	G	C	C	33	33	DST	C	3	3
SRPK2	6733	broad.mit.edu	36	7	104569728	104569728	+	Silent	SNP	T	C	C			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104569728T>C	uc003vcv.1	-	c.1506A>G	c.(1504-1506)AGA>AGG	p.R502R	SRPK2_uc003vct.1_Silent_p.R491R|SRPK2_uc003vcu.1_Silent_p.R491R|SRPK2_uc003vcw.1_Silent_p.R491R	NM_182692	NP_872634	P78362	SRPK2_HUMAN	SFRS protein kinase 2 isoform a	491	Protein kinase.				angiogenesis|cell differentiation|innate immune response|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|protein phosphorylation|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R491R(1)		central_nervous_system(3)|ovary(2)	5										326				0.233645	139.426517	153.340408	50	164	TT		KEEP	---	---	---	---	capture			Silent	SNP	104569728	104569728	15674	7	T	C	C	62	62	SRPK2	C	4	4
DOCK4	9732	broad.mit.edu	36	7	111155668	111155668	+	Silent	SNP	G	T	T			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:111155668G>T	uc003vfy.1	-	c.5934C>A	c.(5932-5934)CCC>CCA	p.P1978P	DOCK4_uc003vfw.1_Silent_p.P1345P|DOCK4_uc003vfx.1_Silent_p.P1933P|DOCK4_uc003vfv.1_Silent_p.P246P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1933	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.289474	14.582978	16.191109	11	27	GG		KEEP	---	---	---	---	capture			Silent	SNP	111155668	111155668	4873	7	G	T	T	47	47	DOCK4	T	3	3
ATP6V0A4	50617	broad.mit.edu	36	7	138091826	138091826	+	Splice_Site_SNP	SNP	C	G	G			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138091826C>G	uc003vuf.1	-	c.640_splice	c.e8-1	p.K214_splice	ATP6V0A4_uc003vug.1_Splice_Site_SNP_p.K214_splice|ATP6V0A4_uc003vuh.1_Splice_Site_SNP_p.K214_splice	NM_130841	NP_570856			ATPase, H+ transporting, lysosomal V0 subunit						cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.325513	339.305782	348.518079	111	230	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	138091826	138091826	1189	7	C	G	G	32	32	ATP6V0A4	G	5	3
MKRN1	23608	broad.mit.edu	36	7	139803096	139803096	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139803096A>T	uc003vvt.1	-	c.811T>A	c.(811-813)TTT>ATT	p.F271I	MKRN1_uc003vvs.1_Missense_Mutation_p.F207I|MKRN1_uc003vvu.2_Missense_Mutation_p.F207I|MKRN1_uc003vvv.2_Missense_Mutation_p.F271I	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	271							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)													0.253012	55.139388	59.733866	21	62	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139803096	139803096	9996	7	A	T	T	4	4	MKRN1	T	4	4
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(16)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.741081	2194.938652	2246.62406	727	254	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
FZD9	8326	broad.mit.edu	36	7	72487345	72487345	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72487345T>A	uc003tyb.1	+	c.1072T>A	c.(1072-1074)TTC>ATC	p.F358I		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9	358	Helical; Name=4; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				Pancreas(144;909 1878 36867 38226 39554)								0.377551	94.191057	95.500597	37	61	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72487345	72487345	6388	7	T	A	A	64	64	FZD9	A	4	4
C8orf58	541565	broad.mit.edu	36	8	22514542	22514542	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22514542C>T	uc003xce.1	+	c.243C>T	c.(241-243)GCC>GCT	p.A81A	C8orf58_uc003xcf.1_Silent_p.A81A|C8orf58_uc003xcg.1_Silent_p.A9A	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	81											0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)												0.4	48.89413	49.243228	16	24	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	Silent	SNP	22514542	22514542	2545	8	C	T	T	23	23	C8orf58	T	1	1
DOCK5	80005	broad.mit.edu	36	8	25212401	25212401	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25212401C>T	uc003xeg.1	+	c.631C>T	c.(631-633)CGG>TGG	p.R211W	DOCK5_uc003xef.2_Missense_Mutation_p.R211W|DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	211						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.282609	33.45874	35.409832	13	33	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Missense_Mutation	SNP	25212401	25212401	4874	8	C	T	T	27	27	DOCK5	T	1	1
PTCH1	5727	broad.mit.edu	36	9	97249179	97249179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:97249179G>A	uc004avk.2	-	c.4180C>T	c.(4180-4182)CGA>TGA	p.R1394*	PTCH1_uc010mro.1_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrp.1_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrq.1_Nonsense_Mutation_p.R1243*|PTCH1_uc004avl.2_Nonsense_Mutation_p.R1243*|PTCH1_uc010mrr.1_Nonsense_Mutation_p.R1328*|PTCH1_uc004avm.2_Nonsense_Mutation_p.R1393*|PTCH1_uc010mrn.1_Nonsense_Mutation_p.R186*	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	patched isoform L	1394	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1394*(1)		skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)								509				0.5	181.001541	181.001541	58	58	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	97249179	97249179	13184	9	G	A	A	39	39	PTCH1	A	5	1
ESX1	80712	broad.mit.edu	36	X	103385855	103385855	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:103385855G>A	uc004ely.1	-	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	48					regulation of cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity			ovary(1)	1						Pancreas(200;1705 2227 25194 28471 45274)								0.415888	525.169359	527.813255	178	250	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103385855	103385855	5456	23	G	A	A	40	40	ESX1	A	1	1
MUM1L1	139221	broad.mit.edu	36	X	105337684	105337684	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0125-01	TCGA-06-0125-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105337684A>C	uc004emf.1	+	c.1603A>C	c.(1603-1605)ATG>CTG	p.M535L	MUM1L1_uc004emg.1_Missense_Mutation_p.M535L	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	535										ovary(2)|pancreas(1)|skin(1)	4														0.454545	52.323261	52.382421	15	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105337684	105337684	10380	23	A	C	C	4	4	MUM1L1	C	4	4
BRS3	680	broad.mit.edu	36	X	135397941	135397941	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135397941T>G	uc004ezv.1	+	c.2T>G	c.(1-3)ATG>AGG	p.M1R		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	1	Extracellular (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.348837	103.53238	105.262819	30	56	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135397941	135397941	1553	23	T	G	G	51	51	BRS3	G	4	4
MAGEB6	158809	broad.mit.edu	36	X	26122855	26122855	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0125-01	TCGA-06-0125-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:26122855T>A	uc004dbr.1	+	c.971T>A	c.(970-972)ATC>AAC	p.I324N	MAGEB6_uc010ngc.1_Missense_Mutation_p.I104N|MAGEB6_uc010ngd.1_Missense_Mutation_p.I324N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	324	MAGE.									ovary(3)	3														0.416667	456.997319	459.176751	150	210	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26122855	26122855	9560	23	T	A	A	50	50	MAGEB6	A	4	4
ARSD	414	broad.mit.edu	36	X	2836829	2836829	+	Silent	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:2836829C>T	uc004cqy.1	-	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S	ARSD_uc004cqz.1_Non-coding_Transcript	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	451						lysosome	arylsulfatase activity|metal ion binding				0		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)												0.508772	97.09292	97.097318	29	28	CC		KEEP	---	---	---	---	capture			Silent	SNP	2836829	2836829	1007	23	C	T	T	23	23	ARSD	T	1	1
FAM47A	158724	broad.mit.edu	36	X	34060121	34060121	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0125-01	TCGA-06-0125-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34060121C>T	uc004ddg.1	-	c.196G>A	c.(196-198)GAA>AAA	p.E66K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	66										ovary(4)|central_nervous_system(1)	5														0.432432	179.208636	179.786968	64	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34060121	34060121	5790	23	C	T	T	31	31	FAM47A	T	1	1
GPKOW	27238	broad.mit.edu	36	X	48863051	48863051	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48863051G>A	uc004dmr.1	-	c.517C>T	c.(517-519)CGG>TGG	p.R173W		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	173	G-patch.					nucleus	nucleic acid binding			ovary(2)	2														0.382353	35.190697	35.594198	13	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48863051	48863051	6887	23	G	A	A	38	38	GPKOW	A	1	1
TRO	7216	broad.mit.edu	36	X	54966613	54966613	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54966613G>A	uc004dtq.1	+	c.923G>A	c.(922-924)AGG>AAG	p.R308K	TRO_uc004dtr.1_Missense_Mutation_p.R308K|TRO_uc004dts.1_Missense_Mutation_p.R308K|TRO_uc004dtt.1_Non-coding_Transcript|TRO_uc004dtu.1_Intron|TRO_uc004dtv.1_Intron|TRO_uc004dtw.1_Intron|TRO_uc004dtx.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	308					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.5	16.575268	16.575268	5	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54966613	54966613	17125	23	G	A	A	35	35	TRO	A	2	2
SPIN4	139886	broad.mit.edu	36	X	62487265	62487265	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0125-01	TCGA-06-0125-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:62487265G>C	uc004dvf.1	-	c.159C>G	c.(157-159)AAC>AAG	p.N53K		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	53					gamete generation					ovary(1)|lung(1)	2														0.333333	8.558206	9.045129	6	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62487265	62487265	15568	23	G	C	C	40	40	SPIN4	C	3	3
PTEN	5728	broad.mit.edu	36	10	89710779	89710782	+	Frame_Shift_Del	DEL	TACT	-	-			TCGA-06-0125-01	TCGA-06-0125-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89710779_89710782delTACT	uc001kfb.1	+	c.950_953delTACT	c.(949-954)GTACTTfs	p.V317fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	317_318	C2 tensin-type.				apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L318fs*2(16)|p.V317fs*3(16)|p.V317fs*6(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.V317_K322del(1)|p.W274_F341del(1)|p.L318F(1)|p.T318fs*2(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)	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)			V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	31	p.L318fs(JHOM1-Tumor)|p.V317fs(SKUT1-Tumor)|p.V317fs(EVSAT-Tumor)|p.V317fs(ISHIKAWAHERAKLIO02ER-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.67			99	48				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	89710779	89710782	13192	10	TACT	-	-	57	57	PTEN	-	5	5
KDR	3791	broad.mit.edu	36	4	55663313	55663313	+	Frame_Shift_Del	DEL	C	-	-			TCGA-06-0125-01	TCGA-06-0125-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55663313_55663313delC	uc003has.1	-	c.2107_2107delG	c.(2107-2109)GATfs	p.D703fs	KDR_uc003hat.1_Frame_Shift_Del_p.D703fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III	703	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.44			110	139				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	55663313	55663313	8445	4	C	-	-	32	32	KDR	-	5	5
