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
PYROXD2	84795	broad.mit.edu	36	10	100140820	100140820	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:100140820G>A	uc001kpc.1	-	c.1072C>T	c.(1072-1074)CCT>TCT	p.P358S	PYROXD2_uc001kpb.1_Non-coding_Transcript|PYROXD2_uc001kpd.1_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	hypothetical protein LOC84795	358					oxidation-reduction process		oxidoreductase activity			central_nervous_system(1)	1														0.191489	7.372107	11.699848	9	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100140820	100140820	13325	10	G	A	A	41	41	PYROXD2	A	2	2
GPR26	2849	broad.mit.edu	36	10	125437439	125437439	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:125437439G>A	uc001lhh.1	+	c.787G>A	c.(787-789)GTG>ATG	p.V263M		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	263	Helical; Name=6; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)												0.272727	13.355193	14.370791	6	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125437439	125437439	6959	10	G	A	A	36	36	GPR26	A	2	2
CRTAC1	55118	broad.mit.edu	36	10	99654507	99654507	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99654507C>T	uc001kou.1	-	c.905G>A	c.(904-906)CGT>CAT	p.R302H	CRTAC1_uc001kov.2_Missense_Mutation_p.R291H|CRTAC1_uc001kot.1_Missense_Mutation_p.R92H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	302	FG-GAP 3; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)												0.79	264.675642	272.460144	79	21	CC		KEEP	---	---	---	---	capture		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	Missense_Mutation	SNP	99654507	99654507	4035	10	C	T	T	19	19	CRTAC1	T	1	1
MICAL2	9645	broad.mit.edu	36	11	12182406	12182406	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:12182406C>T	uc001mjz.1	+	c.298C>T	c.(298-300)CGC>TGC	p.R100C	MICAL2_uc001mka.1_Missense_Mutation_p.R100C|MICAL2_uc001mkb.2_Missense_Mutation_p.R100C|MICAL2_uc001mkc.2_Missense_Mutation_p.R100C|MICAL2_uc001mjy.2_Missense_Mutation_p.R100C	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	100	FAD (Potential).				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0														0.140625	10.733211	18.715061	9	55	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.00552)	Missense_Mutation	SNP	12182406	12182406	9960	11	C	T	T	27	27	MICAL2	T	1	1
OR51F1	256892	broad.mit.edu	36	11	4747285	4747285	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4747285C>A	uc001lzl.1	-	c.439G>T	c.(439-441)GGT>TGT	p.G147C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	147						integral to membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)												0.131313	18.40262	31.48788	13	86	CC		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	4747285	4747285	11506	11	C	A	A	22	22	OR51F1	A	3	3
PCF11	51585	broad.mit.edu	36	11	82557817	82557817	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:82557817A>T	uc001ozx.2	+	c.2792A>T	c.(2791-2793)GAT>GTT	p.D931V		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	931	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.4	72.087666	72.612444	24	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82557817	82557817	11993	11	A	T	T	12	12	PCF11	T	4	4
PIWIL1	9271	broad.mit.edu	36	12	129413559	129413559	+	Silent	SNP	A	G	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129413559A>G	uc001uik.1	+	c.2112A>G	c.(2110-2112)GTA>GTG	p.V704V	PIWIL1_uc001uij.1_Silent_p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	704	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.557377	245.216948	245.567277	68	54	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	Silent	SNP	129413559	129413559	12381	12	A	G	G	15	15	PIWIL1	G	4	4
ABCC9	10060	broad.mit.edu	36	12	21856310	21856310	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21856310G>T	uc001rfh.1	-	c.4151C>A	c.(4150-4152)ACA>AAA	p.T1384K	ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K|ABCC9_uc001rfj.1_Missense_Mutation_p.T1348K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1384	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.441441	152.050366	152.383479	49	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21856310	21856310	60	12	G	T	T	48	48	ABCC9	T	3	3
ANO2	57101	broad.mit.edu	36	12	5778977	5778977	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5778977G>A	uc001qnm.1	-	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	339	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.630435	94.585105	95.272486	29	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5778977	5778977	705	12	G	A	A	38	38	ANO2	A	1	1
FAM70B	348013	broad.mit.edu	36	13	113606004	113606004	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:113606004C>T	uc001vuh.1	-	c.751G>A	c.(751-753)GCA>ACA	p.A251T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	251						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)												0.4	110.284807	111.157039	40	60	CC		KEEP	---	---	---	---	capture	all cancers(43;0.181)		Missense_Mutation	SNP	113606004	113606004	5829	13	C	T	T	27	27	FAM70B	T	1	1
FLT3	2322	broad.mit.edu	36	13	27495589	27495589	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27495589T>A	uc001urw.1	-	c.2316A>T	c.(2314-2316)AAA>AAT	p.K772N	FLT3_uc010aao.1_Non-coding_Transcript	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	772	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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				0.471154	144.362787	144.438399	49	55	TT		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	27495589	27495589	6184	13	T	A	A	64	64	FLT3	A	4	4
OR4K2	390431	broad.mit.edu	36	14	19414887	19414887	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19414887G>A	uc001vwh.1	+	c.621G>A	c.(619-621)GCG>GCA	p.A207A		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)													0.457143	288.3763	288.71209	96	114	GG		KEEP	---	---	---	---	capture	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	Silent	SNP	19414887	19414887	11482	14	G	A	A	40	40	OR4K2	A	1	1
EDDM3B	64184	broad.mit.edu	36	14	20308264	20308264	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20308264T>G	uc001vyd.1	+	c.115T>G	c.(115-117)TTA>GTA	p.L39V	EDDM3B_uc010aib.1_Missense_Mutation_p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN	human epididymis-specific 3 beta precursor	39					spermatid development	extracellular region				ovary(1)	1														0.485915	224.968656	224.993236	69	73	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20308264	20308264	5097	14	T	G	G	56	56	EDDM3B	G	4	4
CTSG	1511	broad.mit.edu	36	14	24112809	24112809	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:24112809G>A	uc001wpq.1	-	c.642C>T	c.(640-642)ATC>ATT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2														0.369369	360.134588	365.129891	123	210	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0269)	Silent	SNP	24112809	24112809	4194	14	G	A	A	37	37	CTSG	A	1	1
CDKL1	8814	broad.mit.edu	36	14	49872641	49872641	+	Silent	SNP	A	G	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:49872641A>G	uc010anu.1	-	c.2802T>C	c.(2800-2802)TCT>TCC	p.S934S	CDKL1_uc001wxz.1_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment					protein phosphorylation	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1	all_epithelial(31;0.000746)|Breast(41;0.0102)									153				0.826087	67.038257	69.346029	19	4	AA		KEEP	---	---	---	---	capture			Silent	SNP	49872641	49872641	3282	14	A	G	G	7	7	CDKL1	G	4	4
SLC12A6	9990	broad.mit.edu	36	15	32315687	32315687	+	Silent	SNP	T	C	C			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32315687T>C	uc001zhw.1	-	c.3048A>G	c.(3046-3048)CAA>CAG	p.Q1016Q	SLC12A6_uc001zhu.1_Silent_p.Q828Q|SLC12A6_uc001zhv.1_Silent_p.Q965Q|SLC12A6_uc001zhz.1_Non-coding_Transcript|SLC12A6_uc001zhx.1_Silent_p.Q1001Q|SLC12A6_uc001zhy.1_Non-coding_Transcript|SLC12A6_uc001zia.1_Silent_p.Q957Q|SLC12A6_uc001zib.1_Silent_p.Q1007Q|SLC12A6_uc001zic.1_Silent_p.Q1016Q|SLC12A6_uc010bau.1_Silent_p.Q1016Q|SLC12A6_uc001zid.1_Silent_p.Q957Q|SLC12A6_uc001zht.1_Non-coding_Transcript	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1016	Cytoplasmic (Potential).				angiogenesis|potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)	6		all_lung(180;2.78e-08)			Potassium Chloride(DB00761)									0.421053	139.586069	140.102434	40	55	TT		KEEP	---	---	---	---	capture		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Silent	SNP	32315687	32315687	14882	15	T	C	C	52	52	SLC12A6	C	4	4
DNAH3	55567	broad.mit.edu	36	16	20882347	20882347	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20882347A>T	uc002did.1	-	c.10360T>A	c.(10360-10362)TGG>AGG	p.W3454R	DNAH3_uc002dic.1_Missense_Mutation_p.W889R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3454					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.163793	38.053054	50.5063	19	97	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20882347	20882347	4786	16	A	T	T	7	7	DNAH3	T	4	4
ITGAD	3681	broad.mit.edu	36	16	31337175	31337175	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31337175G>T	uc010cap.1	+	c.2672G>T	c.(2671-2673)AGG>ATG	p.R891M	ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	890	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.340909	127.335805	130.287967	45	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31337175	31337175	8188	16	G	T	T	35	35	ITGAD	T	3	3
PLA2G15	23659	broad.mit.edu	36	16	66846410	66846410	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66846410G>A	uc002evr.1	+	c.372G>A	c.(370-372)CTG>CTA	p.L124L	PLA2G15_uc002evs.1_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase	124					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1														0.344828	88.424019	90.273855	30	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	66846410	66846410	12418	16	G	A	A	47	47	PLA2G15	A	2	2
LGALS9B	284194	broad.mit.edu	36	17	20304341	20304341	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:20304341G>C	uc002gxa.1	-	c.47C>G	c.(46-48)CCC>CGC	p.P16R	LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	16							sugar binding				0														0.4	129.665484	130.7173	48	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20304341	20304341	9075	17	G	C	C	43	43	LGALS9B	C	3	3
ITGAE	3682	broad.mit.edu	36	17	3598022	3598022	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3598022C>T	uc002fwo.2	-	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	700	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4						NSCLC(182;635 2928 8995 38788)				37				0.509091	80.687092	80.690856	28	27	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	Missense_Mutation	SNP	3598022	3598022	8189	17	C	T	T	19	19	ITGAE	T	1	1
IGF2BP1	10642	broad.mit.edu	36	17	44470626	44470626	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44470626C>T	uc002iom.1	+	c.499C>T	c.(499-501)CGC>TGC	p.R167C	IGF2BP1_uc010dbj.1_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.431373	126.615213	127.02487	44	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44470626	44470626	7874	17	C	T	T	27	27	IGF2BP1	T	1	1
P4HB	5034	broad.mit.edu	36	17	77396747	77396747	+	Silent	SNP	A	G	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77396747A>G	uc002kbn.1	-	c.1338T>C	c.(1336-1338)TTT>TTC	p.F446F	P4HB_uc002kbl.1_Silent_p.F123F|P4HB_uc002kbm.1_Silent_p.F123F	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	446	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)					Colon(49;444 983 1296 7887 42561)				156				0.25	6.488539	8.804899	9	27	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		Silent	SNP	77396747	77396747	11772	17	A	G	G	9	9	P4HB	G	4	4
OR1I1	126370	broad.mit.edu	36	19	15059267	15059267	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15059267C>T	uc002nag.1	+	c.391C>T	c.(391-393)CGT>TGT	p.R131C		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3														0.442623	79.316998	79.491793	27	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15059267	15059267	11364	19	C	T	T	27	27	OR1I1	T	1	1
NLRP4	147945	broad.mit.edu	36	19	61080321	61080321	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61080321G>A	uc002qmd.2	+	c.2673G>A	c.(2671-2673)ACG>ACA	p.T891T	NLRP4_uc002qme.1_Silent_p.T891T|NLRP4_uc002qmf.1_Silent_p.T816T|NLRP4_uc010etf.1_Silent_p.T666T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	891							ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)												0.373418	184.193416	186.413636	59	99	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0606)	Silent	SNP	61080321	61080321	10882	19	G	A	A	39	39	NLRP4	A	1	1
ZNF560	147741	broad.mit.edu	36	19	9440010	9440010	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9440010C>T	uc002mlp.1	-	c.613G>A	c.(613-615)GCA>ACA	p.A205T	ZNF560_uc010dwr.1_Missense_Mutation_p.A99T	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|large_intestine(1)|liver(1)|pancreas(1)	4														0.525	136.352373	136.395703	42	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9440010	9440010	18586	19	C	T	T	26	26	ZNF560	T	2	2
APITD1	378708	broad.mit.edu	36	1	10416567	10416567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10416567C>T	uc001arf.1	+	c.133C>T	c.(133-135)CAG>TAG	p.Q45*	APITD1_uc001are.1_Nonsense_Mutation_p.Q45*|APITD1_uc001arg.1_Missense_Mutation_p.T124I|APITD1_uc001arh.1_Nonsense_Mutation_p.Q6*	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	45					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.399142	246.689337	248.772644	93	140	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	Nonsense_Mutation	SNP	10416567	10416567	785	1	C	T	T	17	17	APITD1	T	5	2
RPRD2	23248	broad.mit.edu	36	1	148712007	148712007	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148712007C>G	uc009wlr.1	+	c.3959C>G	c.(3958-3960)GCT>GGT	p.A1320G	RPRD2_uc001eun.1_3'UTR|RPRD2_uc001eup.2_Missense_Mutation_p.A1294G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1320	Pro-rich.						protein binding			ovary(1)	1														0.190476	6.990939	8.871325	4	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148712007	148712007	14096	1	C	G	G	28	28	RPRD2	G	3	3
GON4L	54856	broad.mit.edu	36	1	154058741	154058741	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154058741T>G	uc001flz.2	-	c.848A>C	c.(847-849)CAG>CCG	p.Q283P	GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.1_Missense_Mutation_p.Q283P|GON4L_uc001fmd.2_Missense_Mutation_p.Q283P|GON4L_uc009wri.1_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q111P|GON4L_uc001fmf.2_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	283					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.474453	399.987793	400.145706	130	144	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154058741	154058741	6845	1	T	G	G	55	55	GON4L	G	4	4
OLFML2B	25903	broad.mit.edu	36	1	160259704	160259704	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160259704G>A	uc001gbu.1	-	c.141C>T	c.(139-141)AAC>AAT	p.N47N		NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	47	Potential.										0	all_hematologic(112;0.156)													0.211268	65.672284	76.624235	30	112	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0172)		Silent	SNP	160259704	160259704	11263	1	G	A	A	40	40	OLFML2B	A	1	1
SMG7	9887	broad.mit.edu	36	1	181780716	181780716	+	Silent	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:181780716C>T	uc001gqf.2	+	c.1878C>T	c.(1876-1878)CCC>CCT	p.P626P	SMG7_uc001gqh.1_Silent_p.P626P|SMG7_uc001gqg.1_Silent_p.P672P|SMG7_uc001gqi.1_Silent_p.P584P	NM_201568	NP_963862	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 2	672	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			central_nervous_system(1)	1														0.403571	347.45502	349.745954	113	167	CC		KEEP	---	---	---	---	capture			Silent	SNP	181780716	181780716	15296	1	C	T	T	22	22	SMG7	T	2	2
UBR4	23352	broad.mit.edu	36	1	19288057	19288057	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19288057A>C	uc001bbi.1	-	c.14213T>G	c.(14212-14214)GTT>GGT	p.V4738G	UBR4_uc009vph.1_Missense_Mutation_p.V372G|UBR4_uc001bbg.1_Missense_Mutation_p.V449G|UBR4_uc001bbh.1_Missense_Mutation_p.V447G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4738					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)												0.28	11.27205	12.395775	7	18	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Missense_Mutation	SNP	19288057	19288057	17462	1	A	C	C	2	2	UBR4	C	4	4
CFHR4	10877	broad.mit.edu	36	1	195150720	195150720	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195150720A>C	uc001gtp.1	+	c.1369A>C	c.(1369-1371)AAG>CAG	p.K457Q	CFHR4_uc001gto.1_Missense_Mutation_p.K210Q|CFHR4_uc009wyy.1_Missense_Mutation_p.K456Q	NM_006684		Q92496	FHR4_HUMAN	complement factor H-related 4	210	Sushi 4.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.459184	150.567593	150.709473	45	53	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195150720	195150720	3420	1	A	C	C	1	1	CFHR4	C	4	4
HIST3H3	8290	broad.mit.edu	36	1	226679493	226679493	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226679493G>A	uc001hsx.1	-	c.157C>T	c.(157-159)CGC>TGC	p.R53C		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	53					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)												0.442857	192.73963	193.13638	62	78	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226679493	226679493	7475	1	G	A	A	39	39	HIST3H3	A	1	1
STK35	140901	broad.mit.edu	36	20	2045899	2045899	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2045899C>T	uc010gak.1	+	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	STK35_uc002wfw.2_Missense_Mutation_p.R361C	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	494	Protein kinase.				protein phosphorylation	cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										88				0.347305	162.813151	166.24382	58	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2045899	2045899	15821	20	C	T	T	19	19	STK35	T	1	1
CDH26	60437	broad.mit.edu	36	20	57997420	57997420	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57997420G>C	uc002ybe.1	+	c.1090G>C	c.(1090-1092)GTC>CTC	p.V364L	CDH26_uc002ybf.1_5'UTR	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	364	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)													0.126984	7.495136	15.938818	8	55	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		Missense_Mutation	SNP	57997420	57997420	3239	20	G	C	C	40	40	CDH26	C	3	3
ENTHD1	150350	broad.mit.edu	36	22	38613494	38613494	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38613494G>A	uc003ayg.1	-	c.205C>T	c.(205-207)CGC>TGC	p.R69C		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH.									ovary(2)	2	Melanoma(58;0.0749)													0.421488	304.256386	305.545161	102	140	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38613494	38613494	5330	22	G	A	A	38	38	ENTHD1	A	1	1
CYP2D6	1565	broad.mit.edu	36	22	40854238	40854238	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40854238C>T	uc003bce.1	-	c.725G>A	c.(724-726)CGC>CAC	p.R242H	CYP2D6_uc010gyu.1_5'UTR|CYP2D6_uc003bcf.1_Missense_Mutation_p.R191H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	242					oxidation-reduction process		electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)	1														0.27027	49.162636	52.691956	20	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40854238	40854238	4334	22	C	T	T	27	27	CYP2D6	T	1	1
DPP10	57628	broad.mit.edu	36	2	116310201	116310201	+	Splice_Site_SNP	SNP	A	G	G			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:116310201A>G	uc002tla.1	+	c.1951_splice	c.e22-2	p.G651_splice	DPP10_uc002tlb.1_Splice_Site_SNP_p.G601_splice|DPP10_uc002tlc.1_Splice_Site_SNP_p.G647_splice|DPP10_uc002tle.1_Splice_Site_SNP_p.G601_splice|DPP10_uc002tlf.1_Splice_Site_SNP_p.G644_splice	NM_020868	NP_065919			dipeptidyl peptidase 10 isoform long						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.5	25.973459	25.973459	9	9	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	116310201	116310201	4911	2	A	G	G	7	7	DPP10	G	5	4
RBM45	129831	broad.mit.edu	36	2	178699002	178699002	+	Silent	SNP	T	C	C			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:178699002T>C	uc002ulv.1	+	c.1278T>C	c.(1276-1278)AAT>AAC	p.N426N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	428	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0														0.1	6.475934	22.46871	10	90	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		Silent	SNP	178699002	178699002	13601	2	T	C	C	51	51	RBM45	C	4	4
ZDBF2	57683	broad.mit.edu	36	2	206877954	206877954	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206877954C>T	uc002vbp.2	+	c.457C>T	c.(457-459)CAT>TAT	p.H153Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	153							nucleic acid binding|zinc ion binding			ovary(3)	3														0.378378	37.2093	37.699988	14	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206877954	206877954	18187	2	C	T	T	29	29	ZDBF2	T	2	2
KALRN	8997	broad.mit.edu	36	3	125535949	125535949	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:125535949C>T	uc003ehg.1	+	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W	KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.421622	228.749151	229.73202	78	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125535949	125535949	8279	3	C	T	T	19	19	KALRN	T	1	1
MSL2	55167	broad.mit.edu	36	3	137352781	137352781	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0692-01	TCGA-12-0692-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137352781A>T	uc003eqx.1	-	c.1632T>A	c.(1630-1632)AGT>AGA	p.S544R		NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	544					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1														0.36747	180.417298	182.985517	61	105	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137352781	137352781	10271	3	A	T	T	6	6	MSL2	T	4	4
APOD	347	broad.mit.edu	36	3	196787583	196787583	+	Silent	SNP	G	C	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196787583G>C	uc003fur.1	-	c.39C>G	c.(37-39)GGC>GGG	p.G13G		NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	13					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)												0.211538	8.822292	13.089318	11	41	GG		KEEP	---	---	---	---	capture	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	Silent	SNP	196787583	196787583	812	3	G	C	C	42	42	APOD	C	3	3
XIRP1	165904	broad.mit.edu	36	3	39200935	39200935	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39200935G>T	uc003cjk.1	-	c.5006C>A	c.(5005-5007)TCC>TAC	p.S1669Y	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.S352Y|XIRP1_uc010hhp.1_Missense_Mutation_p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1669							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8														0.449664	182.803139	183.129738	67	82	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	Missense_Mutation	SNP	39200935	39200935	18010	3	G	T	T	41	41	XIRP1	T	3	3
ADAM29	11086	broad.mit.edu	36	4	176134788	176134788	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:176134788G>A	uc003iuc.1	+	c.1537G>A	c.(1537-1539)GCA>ACA	p.A513T	ADAM29_uc003iud.1_Missense_Mutation_p.A513T|ADAM29_uc003iue.1_Missense_Mutation_p.A513T|ADAM29_uc010irr.1_Missense_Mutation_p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	513	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(1)	10		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)				Ovarian(140;1727 1835 21805 25838 41440)				106				0.416107	182.835934	183.747657	62	87	GG		KEEP	---	---	---	---	capture		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	Missense_Mutation	SNP	176134788	176134788	248	4	G	A	A	38	38	ADAM29	A	1	1
PCDHGB4	8641	broad.mit.edu	36	5	140749497	140749497	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140749497C>T	uc003lkc.1	+	c.1862C>T	c.(1861-1863)ACG>ATG	p.T621M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGA8_uc003lkd.1_5'Flank|PCDHGB4_uc010jfy.1_Missense_Mutation_p.T621M|PCDHGA8_uc003lkb.2_5'Flank	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	621	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.382979	102.326573	103.436883	36	58	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140749497	140749497	11985	5	C	T	T	19	19	PCDHGB4	T	1	1
ATP10B	23120	broad.mit.edu	36	5	159993980	159993980	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159993980C>T	uc003lym.1	-	c.1340G>A	c.(1339-1341)CGT>CAT	p.R447H	ATP10B_uc003lyo.1_Missense_Mutation_p.R419H|ATP10B_uc003lyp.1_Missense_Mutation_p.R447H|ATP10B_uc003lyn.2_Missense_Mutation_p.R5H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.485075	402.165944	402.21619	130	138	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159993980	159993980	1136	5	C	T	T	19	19	ATP10B	T	1	1
TTLL2	83887	broad.mit.edu	36	6	167674806	167674806	+	Silent	SNP	G	C	C			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:167674806G>C	uc003qvs.1	+	c.1428G>C	c.(1426-1428)GTG>GTC	p.V476V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	476					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)												0.304	114.710248	118.991138	38	87	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	Silent	SNP	167674806	167674806	17282	6	G	C	C	45	45	TTLL2	C	3	3
C6orf138	442213	broad.mit.edu	36	6	48084342	48084342	+	Silent	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:48084342C>T	uc003oze.2	-	c.843G>A	c.(841-843)CCG>CCA	p.P281P	C6orf138_uc003ozf.2_Silent_p.P298P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	298	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.555556	45.525961	45.598339	15	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	48084342	48084342	2435	6	C	T	T	19	19	C6orf138	T	1	1
CDYL	9425	broad.mit.edu	36	6	4880749	4880749	+	Silent	SNP	T	G	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:4880749T>G	uc003mwi.1	+	c.855T>G	c.(853-855)GGT>GGG	p.G285G	CDYL_uc003mwj.1_Silent_p.G231G|CDYL_uc003mwk.1_5'UTR	NM_004824	NP_736608	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	285					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)												0.181818	6.357787	9.625732	6	27	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.182)	Silent	SNP	4880749	4880749	3318	6	T	G	G	57	57	CDYL	G	4	4
DEFB114	245928	broad.mit.edu	36	6	50036070	50036070	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50036070C>T	uc003ozz.1	-	c.104G>A	c.(103-105)CGT>CAT	p.R35H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	beta-defensin 114	35					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)													0.6875	36.029972	36.530496	11	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50036070	50036070	4580	6	C	T	T	19	19	DEFB114	T	1	1
CD109	135228	broad.mit.edu	36	6	74532387	74532387	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74532387G>A	uc003php.1	+	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H	CD109_uc010kaz.1_Missense_Mutation_p.R374H|CD109_uc003phq.1_Missense_Mutation_p.R374H|CD109_uc010kba.1_Missense_Mutation_p.R297H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109	374						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.47619	95.34717	95.378141	30	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74532387	74532387	3090	6	G	A	A	40	40	CD109	A	1	1
WNT2	7472	broad.mit.edu	36	7	116747962	116747962	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116747962C>T	uc003viz.1	-	c.205G>A	c.(205-207)GTG>ATG	p.V69M	WNT2_uc003vja.1_De_novo_Start_OutOfFrame	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	69					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)													0.275862	38.576824	41.199589	16	42	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	Missense_Mutation	SNP	116747962	116747962	17960	7	C	T	T	19	19	WNT2	T	1	1
FAM115C	285966	broad.mit.edu	36	7	143050789	143050789	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143050789T>C	uc003wdf.1	+	c.1819T>C	c.(1819-1821)TCC>CCC	p.S607P	LOC154761_uc003wdj.1_Non-coding_Transcript|FAM115C_uc003wdg.1_Missense_Mutation_p.S326P|FAM115C_uc003wdh.1_Missense_Mutation_p.S607P|FAM115C_uc003wdi.1_Missense_Mutation_p.S326P	NM_173678	NP_775949	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 A	607											0														0.25	8.701201	10.608302	8	24	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143050789	143050789	5603	7	T	C	C	54	54	FAM115C	C	4	4
NUPL2	11097	broad.mit.edu	36	7	23206312	23206312	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23206312G>A	uc003svu.1	+	c.695G>A	c.(694-696)GGC>GAC	p.G232D	NUPL2_uc003svv.1_Non-coding_Transcript|NUPL2_uc003svw.1_Missense_Mutation_p.G109D|NUPL2_uc003svx.1_Missense_Mutation_p.G109D	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	232					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2														0.288889	34.414279	36.178947	13	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23206312	23206312	11180	7	G	A	A	42	42	NUPL2	A	2	2
STK31	56164	broad.mit.edu	36	7	23791655	23791655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23791655C>T	uc003sws.2	+	c.2182C>T	c.(2182-2184)CGA>TGA	p.R728*	STK31_uc003swt.2_Nonsense_Mutation_p.R705*|STK31_uc010kuq.1_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	728	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.254839	202.978737	219.883492	79	231	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23791655	23791655	15816	7	C	T	T	19	19	STK31	T	5	1
STC1	6781	broad.mit.edu	36	8	23764948	23764948	+	Silent	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23764948G>A	uc003xdw.1	-	c.303C>T	c.(301-303)AAC>AAT	p.N101N		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	101					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity				0		Prostate(55;0.055)|Breast(100;0.116)												0.425532	114.078429	114.534173	40	54	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	Silent	SNP	23764948	23764948	15795	8	G	A	A	40	40	STC1	A	1	1
ZNF618	114991	broad.mit.edu	36	9	115851176	115851176	+	Silent	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115851176C>T	uc004bid.1	+	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	ZNF618_uc004bic.1_Silent_p.S498S|ZNF618_uc010mvb.1_Silent_p.S181S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.466321	256.749108	256.936995	90	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	115851176	115851176	18637	9	C	T	T	27	27	ZNF618	T	1	1
CAMSAP1	157922	broad.mit.edu	36	9	137854469	137854469	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137854469G>A	uc004cgr.2	-	c.1859C>T	c.(1858-1860)CCG>CTG	p.P620L	CAMSAP1_uc004cgq.2_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.1_Missense_Mutation_p.P342L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	620						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.483607	184.31236	184.340422	59	63	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	Missense_Mutation	SNP	137854469	137854469	2728	9	G	A	A	39	39	CAMSAP1	A	1	1
TEK	7010	broad.mit.edu	36	9	27207701	27207701	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27207701C>T	uc003zqi.2	+	c.3007C>T	c.(3007-3009)CGC>TGC	p.R1003C		NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1003	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)								493				0.307692	52.473372	54.617723	20	45	CC		KEEP	---	---	---	---	capture		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Missense_Mutation	SNP	27207701	27207701	16278	9	C	T	T	27	27	TEK	T	1	1
ZBTB33	10009	broad.mit.edu	36	X	119272346	119272346	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:119272346G>A	uc004esn.1	+	c.1048G>A	c.(1048-1050)GTC>ATC	p.V350I	ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc010nqn.1_Missense_Mutation_p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	350					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3														0.402235	213.172155	214.665456	72	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119272346	119272346	18122	23	G	A	A	40	40	ZBTB33	A	1	1
PLXNB3	5365	broad.mit.edu	36	X	152686269	152686269	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152686269C>T	uc004fii.1	+	c.793C>T	c.(793-795)CGC>TGC	p.R265C	PLXNB3_uc010nuk.1_Missense_Mutation_p.R288C	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3	265	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.333333	17.946339	18.387981	6	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152686269	152686269	12551	23	C	T	T	23	23	PLXNB3	T	1	1
PLXNA3	55558	broad.mit.edu	36	X	153347957	153347957	+	Silent	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153347957C>T	uc004flm.1	+	c.2844C>T	c.(2842-2844)TCC>TCT	p.S948S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3	948	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.394137	362.656253	365.650813	121	186	CC		KEEP	---	---	---	---	capture			Silent	SNP	153347957	153347957	12547	23	C	T	T	23	23	PLXNA3	T	1	1
POLA1	5422	broad.mit.edu	36	X	24669461	24669461	+	Silent	SNP	C	T	T			TCGA-12-0692-01	TCGA-12-0692-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:24669461C>T	uc004dbl.1	+	c.2247C>T	c.(2245-2247)GCC>GCT	p.A749A		NM_016937	NP_058633	P09884	DPOLA_HUMAN	polymerase (DNA-directed), alpha	749					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)									0.397163	173.368452	174.673863	56	85	CC		KEEP	---	---	---	---	capture			Silent	SNP	24669461	24669461	12615	23	C	T	T	21	21	POLA1	T	2	2
HUWE1	10075	broad.mit.edu	36	X	53594365	53594365	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0692-01	TCGA-12-0692-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:53594365T>G	uc004dso.1	-	c.9475A>C	c.(9475-9477)AGC>CGC	p.S3159R	HUWE1_uc004dsn.1_Missense_Mutation_p.S1967R|HUWE1_uc004dsp.1_Missense_Mutation_p.S3159R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3159					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.2	8.558132	11.563162	7	28	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53594365	53594365	7761	23	T	G	G	55	55	HUWE1	G	4	4
SATL1	340562	broad.mit.edu	36	X	84249255	84249255	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84249255G>A	uc004een.1	-	c.815C>T	c.(814-816)CCA>CTA	p.P272L		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like	272	Gln-rich.						N-acetyltransferase activity			breast(2)	2														0.463277	225.079927	225.291481	82	95	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84249255	84249255	14336	23	G	A	A	47	47	SATL1	A	2	2
TBL1X	6907	broad.mit.edu	36	X	9616243	9616243	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0692-01	TCGA-12-0692-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9616243G>A	uc010ndq.1	+	c.544G>A	c.(544-546)GTT>ATT	p.V182I	TBL1X_uc004csq.2_Missense_Mutation_p.V131I|TBL1X_uc010ndr.1_Missense_Mutation_p.V131I|TBL1X_uc004csr.1_Missense_Mutation_p.V182I|TBL1X_uc004css.1_Missense_Mutation_p.V133I	NM_005647	NP_005638	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	182					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|promoter binding|protein C-terminus binding|protein domain specific binding|transcription activator activity|transcription corepressor activity|transcription factor binding			ovary(1)	1		Hepatocellular(5;0.000888)												0.5	18.753303	18.753303	6	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9616243	9616243	16165	23	G	A	A	40	40	TBL1X	A	1	1
CNTN5	53942	broad.mit.edu	36	11	99716591	99716592	+	Splice_Site_Ins	INS	-	GT	GT			TCGA-12-0692-01	TCGA-12-0692-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99716591_99716592insGT	uc001pga.1	+	c.e22_splice_site			CNTN5_uc001pgb.1_Splice_Site_Ins	NM_014361	NP_055176			contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.32			12	25				---	---	---	---	capture_indel			Splice_Site_Ins	INS	99716591	99716592	3782	11	-	GT	GT	23	23	CNTN5	GT	5	5
BARD1	580	broad.mit.edu	36	2	215318102	215318102	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-0692-01	TCGA-12-0692-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215318102_215318102delC	uc002veu.2	-	c.1837_1837delG	c.(1837-1839)GCAfs	p.A613fs		NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	613	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)										0.53			31	28				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	215318102	215318102	1333	2	C	-	-	25	25	BARD1	-	5	5
STAG2	10735	broad.mit.edu	36	X	123004160	123004160	+	Frame_Shift_Del	DEL	C	-	-			TCGA-12-0692-01	TCGA-12-0692-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123004160_123004160delC	uc004eua.1	+	c.446_446delC	c.(445-447)ACTfs	p.T149fs	STAG2_uc004etz.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.1_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.1_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.1_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.1_Frame_Shift_Del_p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform a	149					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5														0.42			32	45				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	123004160	123004160	15761	23	C	-	-	20	20	STAG2	-	5	5
