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
ITGA8	8516	broad.mit.edu	36	10	15729016	15729016	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15729016G>A	uc001ioc.1	-	c.1042C>T	c.(1042-1044)CGT>TGT	p.R348C		NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	348	Extracellular (Potential).|FG-GAP 5.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.552301	417.922645	418.493628	132	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15729016	15729016	8186	10	G	A	A	40	40	ITGA8	A	1	1
BDNF	627	broad.mit.edu	36	11	27652193	27652193	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:27652193C>T	uc009yje.1	-	c.215G>A	c.(214-216)GGT>GAT	p.G72D	BDNF-AS_uc001mrm.1_Intron|BDNF-AS_uc009yij.1_Intron|BDNF-AS_uc009yik.1_Intron|BDNF-AS_uc009yil.1_Intron|BDNF-AS_uc001mrp.1_Intron|BDNF-AS_uc009yim.1_Intron|BDNF-AS_uc009yin.1_Intron|BDNF-AS_uc009yio.1_Intron|BDNF-AS_uc009yip.1_Intron|BDNF-AS_uc001mrn.1_Intron|BDNF-AS_uc009yiq.1_Intron|BDNF-AS_uc001mro.1_Intron|BDNF-AS_uc009yir.1_Intron|BDNF-AS_uc009yis.1_Intron|BDNF-AS_uc009yit.1_Intron|BDNF-AS_uc009yiu.1_Intron|BDNF-AS_uc009yiv.1_Intron|BDNF-AS_uc009yiw.1_Intron|BDNF-AS_uc009yix.1_Intron|BDNF-AS_uc009yiy.1_Intron|BDNF-AS_uc009yiz.1_Intron|BDNF-AS_uc001mrq.2_Intron|BDNF-AS_uc001mrr.2_Intron|BDNF-AS_uc009yja.1_Intron|BDNF-AS_uc009yjb.1_Intron|BDNF_uc001mrt.1_Intron|BDNF_uc001mru.1_Intron|BDNF_uc009yjd.1_Intron|BDNF_uc009yjf.1_Intron|BDNF_uc009yjg.1_5'UTR|BDNF_uc001mrv.1_Intron|BDNF_uc001mrw.2_Intron|BDNF_uc001mrx.1_Intron|BDNF_uc001mry.2_Intron|BDNF_uc001mrz.2_Intron|BDNF_uc001msa.1_Intron	NM_170735	NP_733931	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	Error:Variant_position_missing_in_P23560_after_alignment						extracellular region	growth factor activity				0														0.128617	47.226815	88.996797	40	271	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27652193	27652193	1416	11	C	T	T	18	18	BDNF	T	2	2
VDR	7421	broad.mit.edu	36	12	46526394	46526394	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46526394C>T	uc001rql.1	-	c.1165G>A	c.(1165-1167)GTC>ATC	p.V389I	VDR_uc001rqm.1_Missense_Mutation_p.V339I|VDR_uc001rqn.1_Missense_Mutation_p.V339I	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	339	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)				p.V389I(ALEXANDERCELLS-Tumor)	190				0.330508	111.590991	114.592149	39	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46526394	46526394	17716	12	C	T	T	19	19	VDR	T	1	1
MTUS2	23281	broad.mit.edu	36	13	28498575	28498575	+	Silent	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:28498575G>A	uc001usl.2	+	c.1770G>A	c.(1768-1770)TTG>TTA	p.L590L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	580						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.115894	62.091109	149.820688	70	534	GG		KEEP	---	---	---	---	capture			Silent	SNP	28498575	28498575	10359	13	G	A	A	48	48	MTUS2	A	2	2
INO80	54617	broad.mit.edu	36	15	39128905	39128905	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:39128905A>C	uc001zni.1	-	c.2448T>G	c.(2446-2448)TGT>TGG	p.C816W		NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	816					chromatin remodeling	nucleus	ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)	3														0.207547	12.211638	16.429233	11	42	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39128905	39128905	8047	15	A	C	C	14	14	INO80	C	4	4
GNB5	10681	broad.mit.edu	36	15	50215111	50215111	+	Silent	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:50215111G>A	uc002abt.1	-	c.762C>T	c.(760-762)TTC>TTT	p.F254F	GNB5_uc002abr.1_Silent_p.F212F|GNB5_uc002abs.1_Silent_p.F142F	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	254	WD 4.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)										0.162162	23.365542	31.387256	12	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	50215111	50215111	6790	15	G	A	A	37	37	GNB5	A	1	1
SLFN12	55106	broad.mit.edu	36	17	30762666	30762666	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:30762666G>A	uc002hji.2	-	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	SLFN12_uc002hjj.2_Missense_Mutation_p.S514L|SLFN12_uc010cts.1_Missense_Mutation_p.S514L	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.259259	18.61427	20.030396	7	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30762666	30762666	15231	17	G	A	A	37	37	SLFN12	A	1	1
KRT23	25984	broad.mit.edu	36	17	36335244	36335244	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36335244G>A	uc002hvm.1	-	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C	KRT23_uc010cxf.1_Missense_Mutation_p.R131C|KRT23_uc010cxg.1_Missense_Mutation_p.R344C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	344	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.309091	90.706838	94.280935	34	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36335244	36335244	8775	17	G	A	A	40	40	KRT23	A	1	1
CLTC	1213	broad.mit.edu	36	17	55115236	55115236	+	Splice_Site_SNP	SNP	A	G	G			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:55115236A>G	uc002ixr.1	+	c.e25_splice_site			CLTC_uc002ixp.2_Splice_Site_SNP|CLTC_uc002ixq.1_Splice_Site_SNP	NM_004859	NP_004850			clathrin heavy chain 1						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.135255	67.731966	126.025717	61	390	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	55115236	55115236	3704	17	A	G	G	7	7	CLTC	G	5	4
ZNF521	25925	broad.mit.edu	36	18	21058542	21058542	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21058542G>A	uc002kvk.1	-	c.3338C>T	c.(3337-3339)ACG>ATG	p.T1113M	ZNF521_uc010dly.1_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.1_Missense_Mutation_p.T893M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.172414	83.735888	110.188014	45	216	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21058542	21058542	18559	18	G	A	A	40	40	ZNF521	A	1	1
EPB41L3	23136	broad.mit.edu	36	18	5396823	5396823	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5396823C>T	uc002kmt.1	-	c.2302G>A	c.(2302-2304)GCC>ACC	p.A768T	EPB41L3_uc002kmu.1_Missense_Mutation_p.A587T|EPB41L3_uc010dkq.1_Missense_Mutation_p.A478T|EPB41L3_uc002kms.1_Missense_Mutation_p.A40T|EPB41L3_uc010dkr.1_Missense_Mutation_p.A160T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.357326	716.598633	730.513356	278	500	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5396823	5396823	5347	18	C	T	T	27	27	EPB41L3	T	1	1
TICAM1	148022	broad.mit.edu	36	19	4768220	4768220	+	Silent	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4768220C>T	uc002mbi.1	-	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S	TICAM1_uc002mbh.2_Silent_p.S390S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	390	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)										0.257143	72.87495	78.492607	27	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	4768220	4768220	16420	19	C	T	T	23	23	TICAM1	T	1	1
ZSCAN1	284312	broad.mit.edu	36	19	63256872	63256872	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63256872C>T	uc002qrc.1	+	c.868C>T	c.(868-870)CGG>TGG	p.R290W		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	290					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.333333	45.432287	46.760614	18	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63256872	63256872	18830	19	C	T	T	27	27	ZSCAN1	T	1	1
COL11A1	1301	broad.mit.edu	36	1	103117858	103117858	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:103117858G>A	uc001dum.1	-	c.5279C>T	c.(5278-5280)CCT>CTT	p.P1760L	COL11A1_uc001duk.1_Missense_Mutation_p.P944L|COL11A1_uc001dul.1_Missense_Mutation_p.P1748L|COL11A1_uc001dun.1_Missense_Mutation_p.P1709L|COL11A1_uc009weh.1_Missense_Mutation_p.P1632L	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1748	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.345972	187.555671	192.000585	73	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103117858	103117858	3805	1	G	A	A	35	35	COL11A1	A	2	2
KIAA2013	90231	broad.mit.edu	36	1	11907866	11907866	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11907866G>C	uc001atl.1	-	c.1016C>G	c.(1015-1017)GCT>GGT	p.A339G	KIAA2013_uc001atk.1_Missense_Mutation_p.A339G	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231	339	Extracellular (Potential).					integral to membrane				ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.387097	34.685597	35.033853	12	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11907866	11907866	8578	1	G	C	C	34	34	KIAA2013	C	3	3
ADORA1	134	broad.mit.edu	36	1	201401347	201401347	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:201401347A>T	uc001gze.1	+	c.677A>T	c.(676-678)TAT>TTT	p.Y226F	ADORA1_uc001gzf.1_Missense_Mutation_p.Y226F|ADORA1_uc009xak.1_Silent_p.L151L	NM_000674	NP_001041695	P30542	AA1R_HUMAN	adenosine A1 receptor	226	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)									0.437158	236.073104	236.701955	80	103	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	201401347	201401347	327	1	A	T	T	16	16	ADORA1	T	4	4
USH2A	7399	broad.mit.edu	36	1	214077975	214077975	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0819-01	TCGA-12-0819-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214077975T>C	uc001hku.1	-	c.9352A>G	c.(9352-9354)ATT>GTT	p.I3118V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3118	Extracellular (Potential).|Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.387097	154.774702	156.158851	48	76	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	214077975	214077975	17598	1	T	C	C	52	52	USH2A	C	4	4
RYR2	6262	broad.mit.edu	36	1	235855643	235855643	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235855643C>T	uc001hyl.1	+	c.6082C>T	c.(6082-6084)CGT>TGT	p.R2028C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2028	Cytoplasmic (By similarity).|4 X approximate repeats.				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)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.363095	168.926889	171.698077	61	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	235855643	235855643	14249	1	C	T	T	27	27	RYR2	T	1	1
MYOM3	127294	broad.mit.edu	36	1	24285767	24285767	+	Silent	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24285767G>A	uc001bin.2	-	c.1752C>T	c.(1750-1752)AGC>AGT	p.S584S	MYOM3_uc001bim.2_Silent_p.S241S|MYOM3_uc001bio.2_Silent_p.S584S|MYOM3_uc001bip.1_Silent_p.S241S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	584	Fibronectin type-III 2.									ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)										0.115523	39.125107	79.436166	32	245	GG		KEEP	---	---	---	---	capture			Silent	SNP	24285767	24285767	10488	1	G	A	A	38	38	MYOM3	A	1	1
EPB41	2035	broad.mit.edu	36	1	29186888	29186888	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0819-01	TCGA-12-0819-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:29186888T>G	uc001brm.1	+	c.352T>G	c.(352-354)TTT>GTT	p.F118V	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.F118V|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.F118V|EPB41_uc001brk.2_Missense_Mutation_p.F118V|EPB41_uc001brl.1_Missense_Mutation_p.F118V|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_5'UTR	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	118					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)										0.605263	77.93153	78.299987	23	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29186888	29186888	5344	1	T	G	G	52	52	EPB41	G	4	4
C20orf46	55321	broad.mit.edu	36	20	1109659	1109659	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1109659C>T	uc010gaa.1	-	c.604G>A	c.(604-606)GGC>AGC	p.G202S	C20orf46_uc002weq.1_Missense_Mutation_p.G202S	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	202						integral to membrane	protein binding			ovary(1)	1														0.28125	45.419849	48.174808	18	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1109659	1109659	2193	20	C	T	T	22	22	C20orf46	T	2	2
RUNX1	861	broad.mit.edu	36	21	35343057	35343057	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:35343057C>G	uc010gmu.1	-	c.10G>C	c.(10-12)GAC>CAC	p.D4H	RUNX1_uc002yut.1_Non-coding_Transcript|RUNX1_uc010gmv.1_Missense_Mutation_p.D4H|RUNX1_uc002yuj.2_5'UTR|RUNX1_uc002yuk.2_Missense_Mutation_p.D4H|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.D4H	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	Error:Variant_position_missing_in_Q01196_after_alignment					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(366)|lung(1)|central_nervous_system(1)	368										90				0.364294	905.718215	919.150225	302	527	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35343057	35343057	14226	21	C	G	G	32	32	RUNX1	G	3	3
UBASH3A	53347	broad.mit.edu	36	21	42725344	42725344	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42725344G>A	uc002zbe.1	+	c.1234G>A	c.(1234-1236)GGG>AGG	p.G412R	UBASH3A_uc002zbf.1_Missense_Mutation_p.G374R|UBASH3A_uc010gpc.1_Non-coding_Transcript|UBASH3A_uc010gpd.1_Non-coding_Transcript|UBASH3A_uc010gpe.1_Missense_Mutation_p.G374R	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	412	Phosphatase-like.					cytosol|nucleus				ovary(3)	3														0.34375	33.014785	33.705087	11	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42725344	42725344	17396	21	G	A	A	39	39	UBASH3A	A	1	1
NT5C1B	93034	broad.mit.edu	36	2	18600450	18600450	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:18600450C>A	uc010exr.1	-	c.1441G>T	c.(1441-1443)GGG>TGG	p.G481W	NT5C1B_uc002rcy.1_3'UTR|RDH14_uc002rcx.2_Missense_Mutation_p.G167W	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 2	Error:Variant_position_missing_in_Q96P26_after_alignment					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)												0.362069	401.988159	408.752327	147	259	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18600450	18600450	11091	2	C	A	A	22	22	NT5C1B	A	3	3
STK17B	9262	broad.mit.edu	36	2	196716540	196716540	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196716540G>T	uc002utk.1	-	c.596C>A	c.(595-597)CCA>CAA	p.P199Q	STK17B_uc010fsh.1_Missense_Mutation_p.P199Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17b	199	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)							94				0.104167	17.299567	54.736609	25	215	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	196716540	196716540	15811	2	G	T	T	47	47	STK17B	T	3	3
PTH2R	5746	broad.mit.edu	36	2	209066513	209066513	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:209066513A>G	uc002vdb.1	+	c.1537A>G	c.(1537-1539)ACC>GCC	p.T513A	PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	513	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)	1				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)										0.155963	31.314113	43.627788	17	92	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	209066513	209066513	13215	2	A	G	G	10	10	PTH2R	G	4	4
MAP2	4133	broad.mit.edu	36	2	210267673	210267673	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:210267673C>T	uc002vde.1	+	c.2534C>T	c.(2533-2535)ACT>ATT	p.T845I	MAP2_uc002vdc.1_Missense_Mutation_p.T845I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T841I	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	845					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.367199	702.292117	712.972384	253	436	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	210267673	210267673	9618	2	C	T	T	20	20	MAP2	T	2	2
UGT1A5	54579	broad.mit.edu	36	2	234345717	234345717	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234345717G>A	uc002vuw.1	+	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M	UGT1A8_uc002vup.1_Missense_Mutation_p.V456M|UGT1A10_uc002vur.1_Missense_Mutation_p.V456M|UGT1A9_uc002vus.1_Missense_Mutation_p.V456M|UGT1A7_uc002vut.1_Missense_Mutation_p.V456M|UGT1A6_uc002vuu.1_Missense_Mutation_p.V191M|UGT1A6_uc002vuv.2_Missense_Mutation_p.V458M|UGT1A4_uc002vux.1_Missense_Mutation_p.V460M|UGT1A3_uc002vuy.1_Missense_Mutation_p.V460M|UGT1A10_uc002vva.1_Non-coding_Transcript|UGT1A1_uc002vvb.1_Missense_Mutation_p.V459M	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	460					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)										0.377778	293.902218	298.075864	119	196	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	234345717	234345717	17506	2	G	A	A	40	40	UGT1A5	A	1	1
COL6A3	1293	broad.mit.edu	36	2	237942154	237942154	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237942154C>T	uc002vwl.2	-	c.4691G>A	c.(4690-4692)CGT>CAT	p.R1564H	COL6A3_uc002vwk.2_Intron|COL6A3_uc002vwm.2_Missense_Mutation_p.R1363H|COL6A3_uc002vwn.2_Missense_Mutation_p.R1364H|COL6A3_uc002vwo.2_Missense_Mutation_p.R1358H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1564	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.090674	16.290963	81.465796	35	351	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	237942154	237942154	3839	2	C	T	T	19	19	COL6A3	T	1	1
LAMB2	3913	broad.mit.edu	36	3	49133674	49133674	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0819-01	TCGA-12-0819-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49133674T>G	uc003cwe.1	-	c.5386A>C	c.(5386-5388)ACC>CCC	p.T1796P	USP19_uc003cvz.2_5'Flank|USP19_uc003cwb.1_5'Flank|USP19_uc003cwd.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1796	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.209302	6.580759	10.324389	9	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49133674	49133674	8934	3	T	G	G	59	59	LAMB2	G	4	4
PCYOX1L	78991	broad.mit.edu	36	5	148727809	148727809	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148727809A>G	uc003lqk.1	+	c.884A>G	c.(883-885)TAT>TGT	p.Y295C	PCYOX1L_uc003lql.1_Missense_Mutation_p.Y278C|PCYOX1L_uc010jgz.1_Missense_Mutation_p.Y219C|PCYOX1L_uc003lqm.1_Missense_Mutation_p.Y177C|PCYOX1L_uc003lqn.1_Missense_Mutation_p.Y205C	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	295					oxidation-reduction process|prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Ovarian(62;1136 1477 27277 27495)						OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.359223	345.931525	351.325778	111	198	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148727809	148727809	12030	5	A	G	G	16	16	PCYOX1L	G	4	4
CDH18	1016	broad.mit.edu	36	5	19579844	19579844	+	Silent	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:19579844G>A	uc003jgc.1	-	c.1281C>T	c.(1279-1281)GAC>GAT	p.D427D	CDH18_uc003jgd.1_Silent_p.D427D|CDH18_uc010iua.1_Silent_p.D427D|CDH18_uc010itz.1_Silent_p.D427D	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	427	Extracellular (Potential).|Cadherin 4.				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)													0.615385	24.500772	24.652012	8	5	GG		KEEP	---	---	---	---	capture			Silent	SNP	19579844	19579844	3232	5	G	A	A	40	40	CDH18	A	1	1
IL31RA	133396	broad.mit.edu	36	5	55221580	55221580	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55221580G>A	uc003jql.1	+	c.632G>A	c.(631-633)CGT>CAT	p.R211H	IL31RA_uc003jqk.2_Missense_Mutation_p.R211H|IL31RA_uc003jqm.2_Missense_Mutation_p.R179H|IL31RA_uc003jqn.2_Missense_Mutation_p.R211H|IL31RA_uc010iwa.1_Missense_Mutation_p.R179H|IL31RA_uc003jqo.1_Missense_Mutation_p.R69H	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	179	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.431373	69.843101	70.052328	22	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55221580	55221580	7992	5	G	A	A	40	40	IL31RA	A	1	1
PIK3R1	5295	broad.mit.edu	36	5	67624894	67624894	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:67624894G>A	uc003jva.1	+	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	PIK3R1_uc003jvb.1_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.1_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.1_Missense_Mutation_p.G106R|PIK3R1_uc003jve.1_Missense_Mutation_p.G55R	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(3)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)					370	TCGA GBM(4;<1E-8)			0.366667	87.812413	89.194176	33	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67624894	67624894	12342	5	G	A	A	43	43	PIK3R1	A	2	2
ECT2L	345930	broad.mit.edu	36	6	139265399	139265399	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:139265399A>G	uc003qif.1	+	c.2657A>G	c.(2656-2658)GAT>GGT	p.D886G		NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	hypothetical protein LOC345930	886					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.37931	37.019972	37.38989	11	18	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139265399	139265399	5089	6	A	G	G	12	12	ECT2L	G	4	4
TAB2	23118	broad.mit.edu	36	6	149741508	149741508	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149741508C>T	uc003qmj.1	+	c.764C>T	c.(763-765)CCC>CTC	p.P255L	TAB2_uc010kia.1_Missense_Mutation_p.P255L|TAB2_uc010kib.1_Missense_Mutation_p.P255L|TAB2_uc003qmk.2_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	255					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0										127				0.10426	70.108946	209.047619	93	799	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149741508	149741508	16017	6	C	T	T	22	22	TAB2	T	2	2
PKHD1	5314	broad.mit.edu	36	6	51720704	51720704	+	Silent	SNP	T	A	A			TCGA-12-0819-01	TCGA-12-0819-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:51720704T>A	uc003pah.1	-	c.9669A>T	c.(9667-9669)TCA>TCT	p.S3223S	PKHD1_uc010jzn.1_Silent_p.S1206S|PKHD1_uc003pai.1_Silent_p.S3223S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3223	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.09475	30.576133	159.331904	74	707	TT		KEEP	---	---	---	---	capture			Silent	SNP	51720704	51720704	12396	6	T	A	A	55	55	PKHD1	A	4	4
DDX43	55510	broad.mit.edu	36	6	74172172	74172172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74172172C>T	uc003pgw.1	+	c.700C>T	c.(700-702)CGA>TGA	p.R234*		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	234						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)	3														0.304945	293.989226	306.344452	111	253	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	74172172	74172172	4534	6	C	T	T	19	19	DDX43	T	5	1
DSP	1832	broad.mit.edu	36	6	7530995	7530995	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7530995G>A	uc003mxp.1	+	c.8501G>A	c.(8500-8502)CGC>CAC	p.R2834H	DSP_uc003mxq.1_Missense_Mutation_p.R2235H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2834	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.236559	48.308121	54.209425	22	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7530995	7530995	4965	6	G	A	A	38	38	DSP	A	1	1
MET	4233	broad.mit.edu	36	7	116197065	116197065	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116197065G>A	uc010lkh.1	+	c.2768G>A	c.(2767-2769)AGC>AAC	p.S923N	MET_uc003vij.1_Missense_Mutation_p.S905N	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	905	Extracellular (Potential).				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)							299				0.233333	233.011679	262.268102	105	345	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116197065	116197065	9874	7	G	A	A	34	34	MET	A	2	2
WNT2	7472	broad.mit.edu	36	7	116705671	116705671	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116705671G>A	uc003viz.1	-	c.857C>T	c.(856-858)TCC>TTC	p.S286F	WNT2_uc003vja.1_Missense_Mutation_p.S190F	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	286					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			central_nervous_system(2)|ovary(1)|breast(1)	4	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.384615	14.971862	15.123635	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116705671	116705671	17960	7	G	A	A	41	41	WNT2	A	2	2
ADAM18	8749	broad.mit.edu	36	8	39700463	39700463	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0819-01	TCGA-12-0819-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39700463A>G	uc003xni.1	+	c.2057A>G	c.(2056-2058)AAC>AGC	p.N686S	ADAM18_uc010lww.1_Non-coding_Transcript|ADAM18_uc010lwx.1_Missense_Mutation_p.N662S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18 preproprotein	686	Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|ovary(1)|kidney(1)|skin(1)	5		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)							493				0.179104	27.263842	33.75202	12	55	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39700463	39700463	240	8	A	G	G	2	2	ADAM18	G	4	4
GSN	2934	broad.mit.edu	36	9	123105057	123105057	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123105057G>A	uc004blf.1	+	c.397G>A	c.(397-399)GTG>ATG	p.V133M	GSN_uc004bld.1_Missense_Mutation_p.V82M|GSN_uc010mvq.1_Missense_Mutation_p.V93M|GSN_uc010mvr.1_Missense_Mutation_p.V93M|GSN_uc010mvs.1_Missense_Mutation_p.V82M|GSN_uc010mvt.1_Missense_Mutation_p.V82M|GSN_uc010mvu.1_Missense_Mutation_p.V82M|GSN_uc004ble.1_Missense_Mutation_p.V82M|GSN_uc010mvv.1_Missense_Mutation_p.V82M	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	133	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3														0.334337	292.92261	300.986363	111	221	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123105057	123105057	7105	9	G	A	A	40	40	GSN	A	1	1
CCBL1	883	broad.mit.edu	36	9	130644868	130644868	+	Silent	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130644868G>A	uc004bwf.1	-	c.189C>T	c.(187-189)GAC>GAT	p.D63D	CCBL1_uc004bwh.1_Silent_p.D29D|CCBL1_uc010myn.1_Silent_p.D29D|CCBL1_uc004bwj.1_Silent_p.D29D|CCBL1_uc004bwi.1_Non-coding_Transcript|CCBL1_uc010myo.1_Silent_p.D29D|CCBL1_uc004bwg.1_Non-coding_Transcript	NM_004059	NP_004050	Q16773	KAT1_HUMAN	cytoplasmic cysteine conjugate-beta lyase	29					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)									0.230769	15.238569	16.964168	6	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	130644868	130644868	2852	9	G	A	A	40	40	CCBL1	A	1	1
HTR2C	3358	broad.mit.edu	36	X	114047505	114047505	+	Silent	SNP	T	A	A			TCGA-12-0819-01	TCGA-12-0819-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:114047505T>A	uc004epu.1	+	c.648T>A	c.(646-648)CTT>CTA	p.L216L	HTR2C_uc010nqc.1_Silent_p.L216L|HTR2C_uc004epv.1_Missense_Mutation_p.Y185N	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	216	Helical; Name=5; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.133333	8.02068	13.896065	6	39	TT		KEEP	---	---	---	---	capture			Silent	SNP	114047505	114047505	7743	23	T	A	A	61	61	HTR2C	A	4	4
DKC1	1736	broad.mit.edu	36	X	153647843	153647843	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0819-01	TCGA-12-0819-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153647843G>A	uc004fmm.1	+	c.422G>A	c.(421-423)CGC>CAC	p.R141H	DKC1_uc010nvf.1_Missense_Mutation_p.R141H|SNORA36A_uc004fmn.1_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	141					cell proliferation|pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.368421	19.71952	20.008774	7	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153647843	153647843	4721	23	G	A	A	38	38	DKC1	A	1	1
DCAF8L1	139425	broad.mit.edu	36	X	27908576	27908576	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:27908576C>T	uc004dbx.1	-	c.797G>A	c.(796-798)CGG>CAG	p.R266Q		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	WD repeat domain 42B	266	WD 2.									ovary(3)	3														0.298387	100.123296	104.630922	37	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27908576	27908576	4448	23	C	T	T	23	23	DCAF8L1	T	1	1
ZCCHC5	203430	broad.mit.edu	36	X	77800031	77800031	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0819-01	TCGA-12-0819-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:77800031C>G	uc004edc.1	-	c.543G>C	c.(541-543)GAG>GAC	p.E181D	ZCCHC5_uc010nmd.1_Missense_Mutation_p.E181D	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	181	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1														0.360825	104.905387	106.556059	35	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77800031	77800031	18179	23	C	G	G	20	20	ZCCHC5	G	3	3
ADAMTS14	140766	broad.mit.edu	36	10	72181244	72181245	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72181244_72181245insC	uc001jrg.1	+	c.2441_2442insC	c.(2440-2442)CTCfs	p.L814fs	ADAMTS14_uc001jrh.1_Frame_Shift_Ins_p.L811fs	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	811	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	72181244	72181245	260	10	-	C	C	54	54	ADAMTS14	C	5	5
DDIT4	54541	broad.mit.edu	36	10	73704803	73704803	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73704803_73704803delC	uc001jsx.1	+	c.550_550delC	c.(550-552)CGAfs	p.R184fs		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	184					apoptosis					pancreas(1)	1												OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.48			16	17				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	73704803	73704803	4502	10	C	-	-	19	19	DDIT4	-	5	5
TSC2	7249	broad.mit.edu	36	16	2071705	2071710	+	In_Frame_Del	DEL	GCTTCA	-	-			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2071705_2071710delGCTTCA	uc002con.1	+	c.3719_3724delGCTTCA	c.(3718-3726)CGCTTCAAG>CAG	p.1240_1242RFK>Q	TSC2_uc010bsd.1_In_Frame_Del_p.1240_1242RFK>Q|TSC2_uc002coo.1_In_Frame_Del_p.1196_1198RFK>Q|TSC2_uc002cop.1_In_Frame_Del_p.996_998RFK>Q|TSC2_uc002coq.1_5'Flank|TSC2_uc002cor.1_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1240_1242					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)							p.K1242E(CCK81-Tumor)	1098				0.38			14	23				---	---	---	---	capture_indel			In_Frame_Del	DEL	2071705	2071710	17157	16	GCTTCA	-	-	38	38	TSC2	-	5	5
C19orf26	255057	broad.mit.edu	36	19	1182033	1182034	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1182033_1182034insG	uc002lrm.2	-	c.1202_1203insC	c.(1201-1203)CCTfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	437						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	1182033	1182034	1979	19	-	G	G	15	15	C19orf26	G	5	5
PCSK4	54760	broad.mit.edu	36	19	1433151	1433152	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1433151_1433152insG	uc002ltb.1	-	c.1874_1875insC	c.(1873-1875)CCGfs	p.P625fs	C19orf25_uc010dsk.1_5'Flank|PCSK4_uc002lsz.2_Frame_Shift_Ins_p.P112fs|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	625					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.36			4	7				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	1433151	1433152	12023	19	-	G	G	27	27	PCSK4	G	5	5
BLVRB	645	broad.mit.edu	36	19	45663374	45663386	+	Frame_Shift_Del	DEL	GCCAGGGTGGTGA	-	-			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45663374_45663386delGCCAGGGTGGTGA	uc002onw.2	-	c.50_62delTCACCACCCTGGC	c.(49-63)CTCACCACCCTGGCGfs	p.L17fs	SPTBN4_uc002onx.1_5'Flank|SPTBN4_uc002ony.1_5'Flank|SPTBN4_uc002onz.1_5'Flank|BLVRB_uc010egw.1_Non-coding_Transcript	NM_000713	NP_000704	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase	17_21					heme catabolic process|oxidation-reduction process	cytosol	biliverdin reductase activity|binding|flavin reductase activity				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)									0.39			7	11				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	45663374	45663386	1477	19	GCCAGGGTGGTGA	-	-	38	38	BLVRB	-	5	5
PCSK9	255738	broad.mit.edu	36	1	55284900	55284901	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55284900_55284901insC	uc001cyf.1	+	c.516_517insC	c.(514-519)CAGCCCfs	p.Q172fs		NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	172_173	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|extrinsic to external side of plasma membrane|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)	2						Pancreas(137;1454 1827 5886 22361 42375)								0.33			4	8				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	55284900	55284901	12027	1	-	C	C	34	34	PCSK9	C	5	5
OXER1	165140	broad.mit.edu	36	2	42844592	42844593	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42844592_42844593insC	uc002rss.1	-	c.231_232insG	c.(229-234)GGGTCCfs	p.G77fs		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	77_78	Extracellular (Potential).|Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity				0														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	42844592	42844593	11744	2	-	C	C	10	10	OXER1	C	5	5
SP8	221833	broad.mit.edu	36	7	20791190	20791190	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20791190_20791190delC	uc003suz.1	-	c.771_771delG	c.(769-771)GGGfs	p.G257fs	SP8_uc003suy.1_Frame_Shift_Del_p.G239fs|SP8_uc010kuj.1_Frame_Shift_Del_p.G239fs	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 1	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1														0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	20791190	20791190	15470	7	C	-	-	26	26	SP8	-	5	5
C7orf28B	221960	broad.mit.edu	36	7	6807126	6807127	+	Frame_Shift_Ins	INS	-	T	T			TCGA-12-0819-01	TCGA-12-0819-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6807126_6807127insT	uc003sqx.1	-	c.1370_1371insA	c.(1369-1371)AATfs	p.N457fs		NM_198097	NP_056437	P86790	CCZ1L_HUMAN	hypothetical protein LOC221960	457						lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)										0.67			4	2				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	6807126	6807127	2491	7	-	T	T	8	8	C7orf28B	T	5	5
