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
SPOCK2	9806	broad.mit.edu	36	10	73492621	73492621	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4926-01	TCGA-76-4926-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:73492621T>C	uc001jso.1	-	c.1178A>G	c.(1177-1179)GAG>GGG	p.E393G	SPOCK2_uc001jsp.1_Missense_Mutation_p.E393G	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	393	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0														0.266667	7.030844	7.746379	4	11	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73492621	73492621	15593	10	T	C	C	54	54	SPOCK2	C	4	4
SCN4B	6330	broad.mit.edu	36	11	117519966	117519966	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117519966C>T	uc001pse.1	-	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta	85	Ig-like C2-type.|Extracellular (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.274247	223.312475	237.04384	82	217	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Silent	SNP	117519966	117519966	14403	11	C	T	T	32	32	SCN4B	T	2	2
TMEM25	84866	broad.mit.edu	36	11	117910008	117910008	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117910008C>T	uc001ptk.2	+	c.891C>T	c.(889-891)TCC>TCT	p.S297S	TMEM25_uc009zad.1_Silent_p.S253S|TMEM25_uc001pth.1_Silent_p.S253S|TMEM25_uc001pti.1_Silent_p.S149S|TMEM25_uc009zae.1_Silent_p.S297S|TMEM25_uc001ptl.1_Silent_p.S297S|TMEM25_uc001ptm.1_Silent_p.S253S|TMEM25_uc001ptn.1_Silent_p.S253S	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	297	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)												0.207921	47.937911	55.905359	21	80	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Silent	SNP	117910008	117910008	16689	11	C	T	T	22	22	TMEM25	T	2	2
PHLDB1	23187	broad.mit.edu	36	11	118004361	118004361	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118004361C>G	uc001ptr.1	+	c.1612C>G	c.(1612-1614)CTG>GTG	p.L538V	PHLDB1_uc001pts.1_Missense_Mutation_p.L538V|PHLDB1_uc001ptt.1_Missense_Mutation_p.L538V|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.L338V|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	538											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)												0.25	8.491022	9.401208	4	12	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	Missense_Mutation	SNP	118004361	118004361	12275	11	C	G	G	28	28	PHLDB1	G	3	3
TPH1	7166	broad.mit.edu	36	11	18007671	18007671	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18007671C>T	uc001mnp.1	-	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	TPH1_uc009yhe.1_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)				p.R145Q(TCCPAN2-Tumor)	206				0.205224	114.362665	135.976791	55	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18007671	18007671	16945	11	C	T	T	31	31	TPH1	T	1	1
OR52N2	390077	broad.mit.edu	36	11	5798980	5798980	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5798980C>G	uc001mbx.1	+	c.839C>G	c.(838-840)GCC>GGC	p.A280G	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)												0.334842	227.304688	232.628132	74	147	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5798980	5798980	11538	11	C	G	G	26	26	OR52N2	G	3	3
GPR137	56834	broad.mit.edu	36	11	63813189	63813189	+	Splice_Site_SNP	SNP	A	C	C			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63813189A>C	uc001nzg.1	+	c.1032_splice	c.e8-2	p.R344_splice	GPR137_uc001nzf.2_Missense_Mutation_p.Q329P|GPR137_uc001nzi.2_Missense_Mutation_p.Q379P|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.2_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_020155	NP_064540			G protein-coupled receptor 137							integral to membrane				central_nervous_system(1)	1										60				0.398496	155.171647	156.361484	53	80	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	63813189	63813189	6919	11	A	C	C	7	7	GPR137	C	5	4
TXNRD1	7296	broad.mit.edu	36	12	103229214	103229214	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:103229214G>A	uc001tkn.2	+	c.431G>A	c.(430-432)AGA>AAA	p.R144K	TXNRD1_uc001tko.1_Non-coding_Transcript|TXNRD1_uc001tkp.1_Non-coding_Transcript|TXNRD1_uc001tkq.1_5'UTR|TXNRD1_uc001tkr.1_Missense_Mutation_p.R46K|TXNRD1_uc001tks.1_5'UTR|TXNRD1_uc001tkt.1_5'UTR|TXNRD1_uc001tku.1_Non-coding_Transcript|TXNRD1_uc001tkv.1_Non-coding_Transcript|TXNRD1_uc009zun.1_Missense_Mutation_p.R60K	NM_001093771		Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	144	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						Ovarian(139;555 1836 9186 9946 10884)								0.342105	39.463041	40.30033	13	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103229214	103229214	17363	12	G	A	A	33	33	TXNRD1	A	2	2
ARNTL2	56938	broad.mit.edu	36	12	27431438	27431438	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27431438G>A	uc001rht.1	+	c.575G>A	c.(574-576)GGC>GAC	p.G192D	ARNTL2_uc001rhu.1_Missense_Mutation_p.G178D|ARNTL2_uc009zji.1_Missense_Mutation_p.G158D|ARNTL2_uc001rhv.1_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.1_Missense_Mutation_p.G155D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	192	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(1)	1	Colorectal(261;0.0847)|Lung SC(9;0.184)													0.404255	217.636608	219.14899	76	112	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27431438	27431438	986	12	G	A	A	42	42	ARNTL2	A	2	2
ESPL1	9700	broad.mit.edu	36	12	51949956	51949956	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51949956C>T	uc001sck.2	+	c.963C>T	c.(961-963)GTC>GTT	p.V321V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	extra spindle poles like 1	321					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)	2						Colon(53;1069 1201 2587 5382)								0.292857	103.012387	108.395163	41	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	51949956	51949956	5446	12	C	T	T	30	30	ESPL1	T	2	2
LRRC57	255252	broad.mit.edu	36	15	40623577	40623577	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40623577G>A	uc001zqc.1	-	c.716C>T	c.(715-717)GCG>GTG	p.A239V	LRRC57_uc001zqd.1_Missense_Mutation_p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	239											0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)												0.243697	185.228408	206.623368	87	270	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;6.87e-07)	Missense_Mutation	SNP	40623577	40623577	9388	15	G	A	A	38	38	LRRC57	A	1	1
TMC3	342125	broad.mit.edu	36	15	79414148	79414148	+	Silent	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:79414148G>A	uc002bgo.1	-	c.2427C>T	c.(2425-2427)GTC>GTT	p.V809V	TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	809	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2														0.378049	86.900545	87.9722	31	51	GG		KEEP	---	---	---	---	capture			Silent	SNP	79414148	79414148	16516	15	G	A	A	41	41	TMC3	A	2	2
OTOA	146183	broad.mit.edu	36	16	21624038	21624038	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21624038C>T	uc002djh.1	+	c.1028C>T	c.(1027-1029)GCC>GTC	p.A343V	OTOA_uc002dji.1_Missense_Mutation_p.A19V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	357					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1														0.419476	302.01968	303.535805	112	155	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0414)	Missense_Mutation	SNP	21624038	21624038	11714	16	C	T	T	26	26	OTOA	T	2	2
GDPD3	79153	broad.mit.edu	36	16	30031210	30031210	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30031210C>T	uc002dwp.1	-	c.401G>A	c.(400-402)CGT>CAT	p.R134H	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|GDPD3_uc002dwq.1_Missense_Mutation_p.R72H	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	134	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0												OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.338624	160.235363	164.590544	64	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30031210	30031210	6593	16	C	T	T	19	19	GDPD3	T	1	1
IRF8	3394	broad.mit.edu	36	16	84509572	84509572	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:84509572G>A	uc002fjh.1	+	c.650G>A	c.(649-651)GGC>GAC	p.G217D	IRF8_uc010chp.1_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	217					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)												0.383721	155.312765	157.346406	66	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84509572	84509572	8139	16	G	A	A	42	42	IRF8	A	2	2
MRPL38	64978	broad.mit.edu	36	17	71407234	71407234	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4926-01	TCGA-76-4926-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71407234T>G	uc002jpy.1	-	c.725A>C	c.(724-726)GAC>GCC	p.D242A	FBF1_uc002jqa.1_Non-coding_Transcript|TRIM65_uc002jpx.1_5'Flank|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	276						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1														0.307692	7.286185	7.720408	4	9	TT		KEEP	---	---	---	---	capture	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		Missense_Mutation	SNP	71407234	71407234	10194	17	T	G	G	58	58	MRPL38	G	4	4
PHLPP1	23239	broad.mit.edu	36	18	58796508	58796508	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:58796508C>T	uc002lis.1	+	c.2482C>T	c.(2482-2484)CGC>TGC	p.R828C		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1340	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0														0.368421	35.636522	36.216082	14	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58796508	58796508	12278	18	C	T	T	27	27	PHLPP1	T	1	1
TYK2	7297	broad.mit.edu	36	19	10328361	10328361	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10328361G>C	uc002moc.2	-	c.2500C>G	c.(2500-2502)CCC>GCC	p.P834A	TYK2_uc010dxe.1_Missense_Mutation_p.P649A	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	834	Protein kinase 1.				intracellular protein kinase cascade|protein phosphorylation|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(2)|lung(2)|breast(1)	5										414				0.363636	7.698638	8.175657	8	14	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		Missense_Mutation	SNP	10328361	10328361	17367	19	G	C	C	42	42	TYK2	C	3	3
CD177	57126	broad.mit.edu	36	19	48551751	48551751	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48551751G>C	uc002owi.1	+	c.478G>C	c.(478-480)GAT>CAT	p.D160H	CD177_uc010eis.1_Non-coding_Transcript|CD177_uc002owj.1_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule	160	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane					0		Prostate(69;0.00682)												0.38843	161.100669	162.419483	47	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48551751	48551751	3098	19	G	C	C	45	45	CD177	C	3	3
DENND1C	79958	broad.mit.edu	36	19	6422430	6422430	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6422430G>C	uc002mfe.1	-	c.1236C>G	c.(1234-1236)TGC>TGG	p.C412W	DENND1C_uc002mfb.1_5'UTR|DENND1C_uc002mfc.1_5'UTR|DENND1C_uc002mfd.1_5'UTR	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	412						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.4	6.372077	6.46483	4	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6422430	6422430	4607	19	G	C	C	38	38	DENND1C	C	3	3
VPS45	11311	broad.mit.edu	36	1	148315800	148315800	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:148315800G>A	uc001etp.1	+	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	VPS45_uc001etq.1_5'Flank|VPS45_uc009wlm.1_Intron	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	148					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)	1	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)													0.394444	191.878697	193.635978	71	109	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	148315800	148315800	17778	1	G	A	A	37	37	VPS45	A	1	1
PLEKHM2	23207	broad.mit.edu	36	1	15917002	15917002	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15917002A>G	uc001axa.2	+	c.614A>G	c.(613-615)AAC>AGC	p.N205S		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	102	RUN.|Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)												0.291667	21.317117	22.24899	7	17	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	Missense_Mutation	SNP	15917002	15917002	12507	1	A	G	G	2	2	PLEKHM2	G	4	4
KIF21B	23046	broad.mit.edu	36	1	199226026	199226026	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199226026G>C	uc001gvs.1	-	c.2893C>G	c.(2893-2895)CAG>GAG	p.Q965E	KIF21B_uc001gvr.1_Missense_Mutation_p.Q965E|KIF21B_uc009wzl.1_Missense_Mutation_p.Q965E	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	965	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.28	9.373638	10.497506	7	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199226026	199226026	8600	1	G	C	C	46	46	KIF21B	C	3	3
KIF26B	55083	broad.mit.edu	36	1	243928855	243928855	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:243928855G>A	uc001ibf.1	+	c.6071G>A	c.(6070-6072)CGC>CAC	p.R2024H		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)													0.351648	78.164189	79.934211	32	59	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.022)		Missense_Mutation	SNP	243928855	243928855	8606	1	G	A	A	38	38	KIF26B	A	1	1
MMEL1	79258	broad.mit.edu	36	1	2514141	2514141	+	Silent	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:2514141G>A	uc001ajy.1	-	c.1965C>T	c.(1963-1965)GAC>GAT	p.D655D	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	664	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)												0.5	143.80464	143.80464	52	52	GG		KEEP	---	---	---	---	capture		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	Silent	SNP	2514141	2514141	10036	1	G	A	A	40	40	MMEL1	A	1	1
ZSWIM5	57643	broad.mit.edu	36	1	45281484	45281484	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45281484A>G	uc001cnd.2	-	c.1603T>C	c.(1603-1605)TGG>CGG	p.W535R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	535							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)													0.220779	168.558586	190.648548	68	240	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45281484	45281484	18848	1	A	G	G	6	6	ZSWIM5	G	4	4
JAG1	182	broad.mit.edu	36	20	10578946	10578946	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:10578946C>T	uc002wnw.2	-	c.1183G>A	c.(1183-1185)GGA>AGA	p.G395R	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	395	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5										587				0.337079	86.229293	88.315526	30	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10578946	10578946	8238	20	C	T	T	23	23	JAG1	T	1	1
CEP250	11190	broad.mit.edu	36	20	33530474	33530474	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33530474G>A	uc002xcm.1	+	c.2099G>A	c.(2098-2100)CGT>CAT	p.R700H	CEP250_uc002xcn.1_Missense_Mutation_p.R700H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	700	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.36	112.938766	115.095888	45	80	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33530474	33530474	3385	20	G	A	A	40	40	CEP250	A	1	1
TPO	7173	broad.mit.edu	36	2	1436502	1436502	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1436502C>T	uc002qwr.1	+	c.512C>T	c.(511-513)ACG>ATG	p.T171M	TPO_uc010ewj.1_Intron|TPO_uc002qwt.1_Missense_Mutation_p.T171M|TPO_uc002qwu.1_Missense_Mutation_p.T171M|TPO_uc002qwv.1_Missense_Mutation_p.T171M|TPO_uc002qww.1_Missense_Mutation_p.T171M|TPO_uc002qwx.1_Missense_Mutation_p.T171M	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	171	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)			Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.368932	288.150757	292.821935	114	195	CC		KEEP	---	---	---	---	capture		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Missense_Mutation	SNP	1436502	1436502	16954	2	C	T	T	19	19	TPO	T	1	1
HOXD13	3239	broad.mit.edu	36	2	176666269	176666269	+	Nonsense_Mutation	SNP	C	A	A			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:176666269C>A	uc002ukf.1	+	c.405C>A	c.(403-405)TAC>TAA	p.Y135*		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	135					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|transcription regulator activity				0										34				0.333333	14.15982	14.594989	6	12	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	Nonsense_Mutation	SNP	176666269	176666269	7614	2	C	A	A	20	20	HOXD13	A	5	3
TTN	7273	broad.mit.edu	36	2	179146334	179146334	+	Silent	SNP	A	G	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179146334A>G	uc002umr.1	-	c.65067T>C	c.(65065-65067)TAT>TAC	p.Y21689Y	TTN_uc002ums.1_Silent_p.Y15384Y|TTN_uc010frc.1_Silent_p.Y15317Y|TTN_uc010frd.1_Silent_p.Y15192Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22616										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.148148	54.31208	73.544471	24	138	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179146334	179146334	17290	2	A	G	G	16	16	TTN	G	4	4
LRRC66	339977	broad.mit.edu	36	4	52557067	52557067	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:52557067C>A	uc003gzi.1	-	c.878G>T	c.(877-879)GGC>GTC	p.G293V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	293						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.133333	20.887764	40.483138	20	130	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52557067	52557067	9393	4	C	A	A	26	26	LRRC66	A	3	3
PRKG2	5593	broad.mit.edu	36	4	82345086	82345086	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:82345086C>T	uc003hmh.1	-	c.140G>A	c.(139-141)CGG>CAG	p.R47Q		NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	47					platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7									p.R47L(NCIH1793-Tumor)	728				0.326531	162.030234	167.263654	64	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82345086	82345086	12966	4	C	T	T	23	23	PRKG2	T	1	1
SLC6A18	348932	broad.mit.edu	36	5	1297838	1297838	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1297838C>T	uc003jby.1	+	c.1612C>T	c.(1612-1614)CTG>TTG	p.L538L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	538	Helical; Name=11; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)													0.391304	125.290559	126.497118	45	70	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Silent	SNP	1297838	1297838	15178	5	C	T	T	24	24	SLC6A18	T	2	2
PCDHGA1	56114	broad.mit.edu	36	5	140692188	140692188	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140692188G>A	uc003lji.1	+	c.1753G>A	c.(1753-1755)GGC>AGC	p.G585S	PCDHGA1_uc003ljh.1_Missense_Mutation_p.G585S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	585	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3														0.35514	208.11631	212.082724	76	138	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140692188	140692188	11970	5	G	A	A	39	39	PCDHGA1	A	1	1
NSUN2	54888	broad.mit.edu	36	5	6675137	6675137	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:6675137G>A	uc003jdu.1	-	c.614C>T	c.(613-615)CCC>CTC	p.P205L	NSUN2_uc003jdv.1_Intron|NSUN2_uc003jdt.1_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family 2 protein	205						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.430556	281.434588	282.344451	93	123	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6675137	6675137	11083	5	G	A	A	43	43	NSUN2	A	2	2
UTP15	84135	broad.mit.edu	36	5	72902235	72902236	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-76-4926-01	TCGA-76-4926-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72902235_72902236GG>TA	uc003kcw.1	+	c.616_617GG>TA	c.(616-618)GGG>TAG	p.G206*	UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	206	WD 5.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)												0.411765	265.150204	266.780955	98	140	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	Nonsense_Mutation	DNP	72902235	72902236	17662	5	GG	TA	TA	47	47	UTP15	TA	5	3
CMYA5	202333	broad.mit.edu	36	5	79061938	79061938	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:79061938G>A	uc003kgc.1	+	c.1594G>A	c.(1594-1596)GTA>ATA	p.V532I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	532	Glu-rich.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)												0.396154	271.556538	274.013006	103	157	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	Missense_Mutation	SNP	79061938	79061938	3728	5	G	A	A	40	40	CMYA5	A	1	1
KCTD20	222658	broad.mit.edu	36	6	36545920	36545920	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36545920A>G	uc003ome.1	+	c.68A>G	c.(67-69)GAT>GGT	p.D23G	KCTD20_uc010jwk.1_Missense_Mutation_p.D23G	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	23						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2														0.387755	181.947266	183.567876	57	90	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36545920	36545920	8414	6	A	G	G	12	12	KCTD20	G	4	4
TFAP2D	83741	broad.mit.edu	36	6	50848479	50848479	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50848479C>T	uc003paf.1	+	c.1302C>T	c.(1300-1302)CCC>CCT	p.P434P		NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	434					regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)													0.325301	65.742774	68.019657	27	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	50848479	50848479	16318	6	C	T	T	22	22	TFAP2D	T	2	2
CNTNAP2	26047	broad.mit.edu	36	7	147557783	147557783	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:147557783C>T	uc003weu.1	+	c.3360C>T	c.(3358-3360)CAC>CAT	p.H1120H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1120	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.290323	108.717634	114.821452	45	110	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Silent	SNP	147557783	147557783	3785	7	C	T	T	19	19	CNTNAP2	T	1	1
HDAC9	9734	broad.mit.edu	36	7	18591479	18591479	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:18591479G>A	uc003sui.1	+	c.73G>A	c.(73-75)GAC>AAC	p.D25N	HDAC9_uc003sue.1_Missense_Mutation_p.D25N|HDAC9_uc003suh.1_Missense_Mutation_p.D25N|HDAC9_uc003suj.1_Missense_Mutation_p.D25N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.1_Missense_Mutation_p.D25N|HDAC9_uc003suf.1_Missense_Mutation_p.D53N|HDAC9_uc010kud.1_Missense_Mutation_p.D25N|HDAC9_uc003sug.1_Missense_Mutation_p.D25N|HDAC9_uc003suc.1_Missense_Mutation_p.D25N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	25	Interaction with CTBP1 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.258912	335.976644	364.060138	138	395	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18591479	18591479	7297	7	G	A	A	33	33	HDAC9	A	2	2
BMPER	168667	broad.mit.edu	36	7	34085144	34085144	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34085144G>A	uc003tdw.1	+	c.1229G>A	c.(1228-1230)CGC>CAC	p.R410H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	410	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.258486	214.098502	234.3137	99	284	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34085144	34085144	1493	7	G	A	A	38	38	BMPER	A	1	1
NSUN5	55695	broad.mit.edu	36	7	72360721	72360721	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72360721C>T	uc003txv.1	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	FKBP6_uc003twz.2_Intron|NSUN5_uc003txw.1_Missense_Mutation_p.M1I|NSUN5_uc003txx.1_Missense_Mutation_p.M1I	NM_148956	NP_683759	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 1	1							methyltransferase activity				0		Lung NSC(55;0.163)												0.280992	72.777984	78.010174	34	87	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72360721	72360721	11086	7	C	T	T	21	21	NSUN5	T	2	2
RIMS2	9699	broad.mit.edu	36	8	104967515	104967515	+	Silent	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104967515C>T	uc003yls.2	+	c.846C>T	c.(844-846)GGC>GGT	p.G282G	RIMS2_uc003ylp.2_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.2_Silent_p.G312G|RIMS2_uc003ylr.2_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	535					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14									p.G282G(HEC251-Tumor)	728				0.409091	116.443103	117.239721	45	65	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Silent	SNP	104967515	104967515	13845	8	C	T	T	27	27	RIMS2	T	1	1
RIMS2	9699	broad.mit.edu	36	8	105326385	105326385	+	Missense_Mutation	SNP	A	T	T			TCGA-76-4926-01	TCGA-76-4926-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105326385A>T	uc003yls.2	+	c.3454A>T	c.(3454-3456)ATG>TTG	p.M1152L	RIMS2_uc003ylp.2_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.2_Missense_Mutation_p.M948L|RIMS2_uc003ylr.2_Missense_Mutation_p.M973L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1196					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14										728				0.356	238.916211	243.47779	89	161	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105326385	105326385	13845	8	A	T	T	4	4	RIMS2	T	4	4
TG	7038	broad.mit.edu	36	8	134176479	134176479	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134176479G>A	uc003ytw.1	+	c.7249G>A	c.(7249-7251)GCA>ACA	p.A2417T	TG_uc010mdw.1_Missense_Mutation_p.A1176T|SLA_uc003ytz.1_Intron|SLA_uc003yua.1_Intron|SLA_uc010mea.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin	2417					hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)							p.A2417T(42MGBA-Tumor)	1778				0.368421	226.102033	229.842093	91	156	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	Missense_Mutation	SNP	134176479	134176479	16341	8	G	A	A	38	38	TG	A	1	1
CYP11B2	1585	broad.mit.edu	36	8	143996228	143996228	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143996228C>T	uc003yxk.1	-	c.31G>A	c.(31-33)GTG>ATG	p.V11M		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, subfamily XIB polypeptide 2	11					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.392157	307.181414	310.311192	120	186	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143996228	143996228	4311	8	C	T	T	19	19	CYP11B2	T	1	1
RECQL4	9401	broad.mit.edu	36	8	145708179	145708179	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145708179G>A	uc003zdj.1	-	c.3316C>T	c.(3316-3318)CGC>TGC	p.R1106C		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1106					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			skin(1)	1	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)									474				0.264706	21.356015	23.060542	9	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		Missense_Mutation	SNP	145708179	145708179	13671	8	G	A	A	39	39	RECQL4	A	1	1
RB1CC1	9821	broad.mit.edu	36	8	53732846	53732846	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53732846G>A	uc003xre.2	-	c.2096C>T	c.(2095-2097)ACG>ATG	p.T699M	RB1CC1_uc003xrf.2_Missense_Mutation_p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.387097	256.633531	259.406217	96	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53732846	53732846	13560	8	G	A	A	40	40	RB1CC1	A	1	1
NACC2	138151	broad.mit.edu	36	9	138043548	138043548	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138043548G>A	uc004cgw.1	-	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	NACC2_uc010nbh.1_Missense_Mutation_p.R106C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	BTB (POZ) domain containing 14A	467					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body	specific transcriptional repressor activity				0														0.5	9.997939	9.997939	4	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138043548	138043548	10532	9	G	A	A	39	39	NACC2	A	1	1
NOTCH1	4851	broad.mit.edu	36	9	138520058	138520058	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4926-01	TCGA-76-4926-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138520058T>G	uc004chz.1	-	c.4111A>C	c.(4111-4113)ACC>CCC	p.T1371P	NOTCH1_uc004cia.1_Missense_Mutation_p.T601P	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1371	Extracellular (Potential).|EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)								1552				0.277778	6.662727	7.548604	5	13	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	Missense_Mutation	SNP	138520058	138520058	10950	9	T	G	G	59	59	NOTCH1	G	4	4
CACNA1B	774	broad.mit.edu	36	9	140132344	140132344	+	Nonsense_Mutation	SNP	C	G	G			TCGA-76-4926-01	TCGA-76-4926-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140132344C>G	uc004cog.1	+	c.5903C>G	c.(5902-5904)TCA>TGA	p.S1968*	CACNA1B_uc004coi.1_Nonsense_Mutation_p.S1180*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1968	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.318182	22.317407	22.963724	7	15	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Nonsense_Mutation	SNP	140132344	140132344	2655	9	C	G	G	29	29	CACNA1B	G	5	3
BNC2	54796	broad.mit.edu	36	9	16425843	16425843	+	Silent	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:16425843G>A	uc003zml.1	-	c.2349C>T	c.(2347-2349)TAC>TAT	p.Y783Y	BNC2_uc003zmm.2_Silent_p.Y741Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc010mii.1_Silent_p.Y548Y|BNC2_uc003zmi.1_Silent_p.Y548Y|BNC2_uc003zmj.1_Silent_p.Y548Y|BNC2_uc003zmk.1_Non-coding_Transcript|BNC2_uc003zmn.1_Silent_p.Y548Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.438272	193.988872	194.528773	71	91	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;9.01e-08)	Silent	SNP	16425843	16425843	1500	9	G	A	A	40	40	BNC2	A	1	1
PGM5	5239	broad.mit.edu	36	9	70288722	70288722	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4926-01	TCGA-76-4926-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:70288722G>A	uc004agr.1	+	c.1417G>A	c.(1417-1419)GTG>ATG	p.V473M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	473					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.360544	136.727519	139.246711	53	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70288722	70288722	12224	9	G	A	A	40	40	PGM5	A	1	1
ATP11C	286410	broad.mit.edu	36	X	138736600	138736600	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4926-01	TCGA-76-4926-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:138736600T>C	uc004faz.1	-	c.85A>G	c.(85-87)AAT>GAT	p.N29D	ATP11C_uc004fba.1_Missense_Mutation_p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	29	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.815126	336.841222	347.927636	97	22	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138736600	138736600	1140	23	T	C	C	63	63	ATP11C	C	4	4
AACS	65985	broad.mit.edu	36	12	124175409	124175410	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-76-4926-01	TCGA-76-4926-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124175409_124175410delCA	uc001uhc.1	+	c.1195_1196delCA	c.(1195-1197)CACfs	p.H399fs	AACS_uc001uhd.1_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.1_Intron|AACS_uc009zyi.1_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	399					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)										0.33			46	92				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	124175409	124175410	10	12	CA	-	-	21	21	AACS	-	5	5
IBTK	25998	broad.mit.edu	36	6	82980782	82980785	+	Frame_Shift_Del	DEL	ACTA	-	-			TCGA-76-4926-01	TCGA-76-4926-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:82980782_82980785delACTA	uc003pjl.1	-	c.2082_2085delTAGT	c.(2080-2085)GTTAGTfs	p.V694fs	IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.1_Frame_Shift_Del_p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	694_695					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)										0.31			87	196				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	82980782	82980785	7776	6	ACTA	-	-	6	6	IBTK	-	5	5
OR2A5	393046	broad.mit.edu	36	7	143379291	143379292	+	Frame_Shift_Ins	INS	-	A	A			TCGA-76-4926-01	TCGA-76-4926-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143379291_143379292insA	uc003wdu.1	+	c.864_865insA	c.(862-867)TTGATCfs	p.L288fs		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	288_289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)													0.32			118	253				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	143379291	143379292	11387	7	-	A	A	45	45	OR2A5	A	5	5
