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
BTAF1	9044	broad.mit.edu	36	10	93746187	93746187	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93746187G>A	uc001khr.1	+	c.3391G>A	c.(3391-3393)GGT>AGT	p.G1131S	BTAF1_uc001kht.1_Missense_Mutation_p.G569S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1131	HEAT 7.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0846)												0.650794	139.481179	140.741764	41	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93746187	93746187	1568	10	G	A	A	35	35	BTAF1	A	2	2
KCNA4	3739	broad.mit.edu	36	11	29990446	29990446	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:29990446C>T	uc001msk.1	-	c.356G>A	c.(355-357)AGG>AAG	p.R119K	KCNA4_uc009yjh.1_Missense_Mutation_p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	119						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.378788	77.257786	78.109089	25	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29990446	29990446	8310	11	C	T	T	24	24	KCNA4	T	2	2
OR51G1	79324	broad.mit.edu	36	11	4901893	4901893	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4901893C>T	uc001lzs.1	-	c.253G>A	c.(253-255)GGC>AGC	p.G85S		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	85	Extracellular (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)												0.34	100.318055	102.58169	34	66	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4901893	4901893	11508	11	C	T	T	22	22	OR51G1	T	2	2
OR4C11	219429	broad.mit.edu	36	11	55127494	55127494	+	Silent	SNP	T	C	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55127494T>C	uc001nhq.1	-	c.932A>G	c.(931-933)TAA>TGA	p.*311*		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.433735	125.092091	125.409043	36	47	TT		KEEP	---	---	---	---	capture			Silent	SNP	55127494	55127494	11451	11	T	C	C	61	61	OR4C11	C	4	4
DKFZp761E198	91056	broad.mit.edu	36	11	65302035	65302035	+	Silent	SNP	G	C	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65302035G>C	uc001ofo.2	-	c.2334C>G	c.(2332-2334)CCC>CCG	p.P778P		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	778							protein binding				0														0.294118	13.368264	14.013203	5	12	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.167)	Silent	SNP	65302035	65302035	4723	11	G	C	C	43	43	DKFZp761E198	C	3	3
ODZ4	26011	broad.mit.edu	36	11	78057948	78057948	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:78057948C>T	uc001ozl.2	-	c.7090G>A	c.(7090-7092)GGG>AGG	p.G2364R	ODZ4_uc001ozk.2_Missense_Mutation_p.G589R|ODZ4_uc009yvb.1_Missense_Mutation_p.G948R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2364	Extracellular (Potential).|YD 23.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.374046	153.245106	155.069035	49	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	78057948	78057948	11242	11	C	T	T	23	23	ODZ4	T	1	1
OR10A6	390093	broad.mit.edu	36	11	7906059	7906059	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:7906059C>T	uc001mft.1	-	c.727G>A	c.(727-729)GCT>ACT	p.A243T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.416667	108.372296	108.955873	40	56	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Missense_Mutation	SNP	7906059	7906059	11300	11	C	T	T	27	27	OR10A6	T	1	1
TMEM135	65084	broad.mit.edu	36	11	86456481	86456481	+	Missense_Mutation	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:86456481C>A	uc001pch.1	+	c.239C>A	c.(238-240)GCC>GAC	p.A80D	TMEM135_uc001pcg.1_Missense_Mutation_p.A80D|TMEM135_uc001pci.1_Missense_Mutation_p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	80	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.329032	139.602283	143.603868	51	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86456481	86456481	16583	11	C	A	A	26	26	TMEM135	A	3	3
SCARB1	949	broad.mit.edu	36	12	123860683	123860683	+	Nonsense_Mutation	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:123860683C>A	uc001ugp.2	-	c.832G>T	c.(832-834)GAG>TAG	p.E278*	SCARB1_uc001ugm.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.2_Nonsense_Mutation_p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 2	278	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|regulation of phagocytosis|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)				Phosphatidylserine(DB00144)									0.368421	33.535602	34.115337	14	24	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Nonsense_Mutation	SNP	123860683	123860683	14362	12	C	A	A	30	30	SCARB1	A	5	3
ITPR2	3709	broad.mit.edu	36	12	26726785	26726785	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26726785C>T	uc001rhg.1	-	c.1237G>A	c.(1237-1239)GTT>ATT	p.V413I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	413	Cytoplasmic (Potential).|MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.216049	78.032019	90.087755	35	127	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26726785	26726785	8225	12	C	T	T	17	17	ITPR2	T	2	2
CCNT1	904	broad.mit.edu	36	12	47373165	47373165	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47373165G>A	uc001rse.1	-	c.2099C>T	c.(2098-2100)TCG>TTG	p.S700L	LOC144438_uc001rsd.2_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S415L	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	700					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein binding			ovary(3)|lung(1)|breast(1)	5										169				0.411765	98.479179	99.063518	35	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47373165	47373165	3061	12	G	A	A	37	37	CCNT1	A	1	1
LEMD3	23592	broad.mit.edu	36	12	63920001	63920001	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:63920001G>A	uc001ssl.1	+	c.1947G>A	c.(1945-1947)CTG>CTA	p.L649L	LEMD3_uc009zqo.1_Silent_p.L648L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	649					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4														0.320988	67.01369	69.323603	26	55	GG		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	Silent	SNP	63920001	63920001	9045	12	G	A	A	46	46	LEMD3	A	2	2
CCT2	10576	broad.mit.edu	36	12	68272161	68272161	+	Silent	SNP	T	G	G			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:68272161T>G	uc001svb.1	+	c.705T>G	c.(703-705)GCT>GCG	p.A235A	CCT2_uc009zrm.1_Non-coding_Transcript|CCT2_uc009zrn.1_Silent_p.A235A	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	235					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)													0.394904	195.917	197.434528	62	95	TT		KEEP	---	---	---	---	capture	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		Silent	SNP	68272161	68272161	3080	12	T	G	G	53	53	CCT2	G	4	4
NUDT14	256281	broad.mit.edu	36	14	104713920	104713920	+	Missense_Mutation	SNP	A	T	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104713920A>T	uc001yqj.1	-	c.424T>A	c.(424-426)TAC>AAC	p.Y142N	NUDT14_uc001yqi.1_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety	142	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)												0.44898	64.945631	65.056261	22	27	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	Missense_Mutation	SNP	104713920	104713920	11135	14	A	T	T	16	16	NUDT14	T	4	4
OR4K13	390433	broad.mit.edu	36	14	19571947	19571947	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:19571947G>A	uc001vwm.1	-	c.811C>T	c.(811-813)CTT>TTT	p.L271F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	271	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)													0.510638	76.299223	76.303815	24	23	GG		KEEP	---	---	---	---	capture	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	Missense_Mutation	SNP	19571947	19571947	11478	14	G	A	A	33	33	OR4K13	A	2	2
C14orf43	91748	broad.mit.edu	36	14	73273553	73273553	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73273553G>A	uc001xot.1	-	c.1650C>T	c.(1648-1650)GAC>GAT	p.D550D	C14orf43_uc010arw.1_Non-coding_Transcript|C14orf43_uc001xou.1_Silent_p.D550D	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|central_nervous_system(1)	4														0.65	159.124795	160.721459	52	28	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	Silent	SNP	73273553	73273553	1824	14	G	A	A	40	40	C14orf43	A	1	1
C15orf23	90417	broad.mit.edu	36	15	38462336	38462336	+	Missense_Mutation	SNP	C	G	G			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38462336C>G	uc001zll.1	+	c.8C>G	c.(7-9)GCT>GGT	p.A3G	C15orf23_uc001zlm.1_Non-coding_Transcript|C15orf23_uc001zln.1_Non-coding_Transcript|C15orf23_uc001zlo.1_Missense_Mutation_p.A3G	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	3						nucleus	protein binding			ovary(1)	1		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)												0.272727	6.92029	7.432489	3	8	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	Missense_Mutation	SNP	38462336	38462336	1835	15	C	G	G	28	28	C15orf23	G	3	3
BAHD1	22893	broad.mit.edu	36	15	38538109	38538109	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38538109C>T	uc001zlu.2	+	c.154C>T	c.(154-156)CGC>TGC	p.R52C	BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)												0.384181	202.76968	204.847025	68	109	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	Missense_Mutation	SNP	38538109	38538109	1318	15	C	T	T	23	23	BAHD1	T	1	1
RASGRF1	5923	broad.mit.edu	36	15	77041629	77041629	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:77041629G>A	uc002beq.1	-	c.3734C>T	c.(3733-3735)ACG>ATG	p.T1245M	RASGRF1_uc002beo.1_Missense_Mutation_p.T461M|RASGRF1_uc002bep.1_Missense_Mutation_p.T1090M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1247	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)|central_nervous_system(1)	4										694				0.26087	14.638129	15.829599	6	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	77041629	77041629	13533	15	G	A	A	40	40	RASGRF1	A	1	1
SLCO3A1	28232	broad.mit.edu	36	15	90491229	90491229	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90491229C>T	uc002bqx.1	+	c.1524C>T	c.(1522-1524)GGC>GGT	p.G508G	SLCO3A1_uc002bqy.1_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	508	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity				0	Lung NSC(78;0.0158)|all_lung(78;0.0255)													0.329787	84.384898	86.803057	31	63	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0841)		Silent	SNP	90491229	90491229	15225	15	C	T	T	28	28	SLCO3A1	T	2	2
SSTR5	6755	broad.mit.edu	36	16	1069430	1069430	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1069430C>T	uc002ckq.1	+	c.561C>T	c.(559-561)AAC>AAT	p.N187N		NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	187	Extracellular (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity				0		Hepatocellular(780;0.00369)			Octreotide(DB00104)									0.285714	10.69422	11.271093	4	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	1069430	1069430	15717	16	C	T	T	19	19	SSTR5	T	1	1
DDX28	55794	broad.mit.edu	36	16	66614333	66614333	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66614333G>A	uc002evh.1	-	c.274C>T	c.(274-276)CTA>TTA	p.L92L	DUS2L_uc002evi.1_5'Flank|DUS2L_uc002evj.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	92						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)												0.3	7.226307	7.580772	3	7	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	Silent	SNP	66614333	66614333	4526	16	G	A	A	34	34	DDX28	A	2	2
STAT3	6774	broad.mit.edu	36	17	37728005	37728005	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37728005G>A	uc002hzl.1	-	c.1922C>T	c.(1921-1923)ACA>ATA	p.T641I	STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	641	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)								793				0.10625	25.69828	74.98821	34	286	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.139)	Missense_Mutation	SNP	37728005	37728005	15786	17	G	A	A	48	48	STAT3	A	2	2
DCC	1630	broad.mit.edu	36	18	48532482	48532482	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:48532482C>T	uc002lfe.1	+	c.152C>T	c.(151-153)ACA>ATA	p.T51I		NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	51	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.231707	41.077043	46.489162	19	63	CC		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Missense_Mutation	SNP	48532482	48532482	4453	18	C	T	T	17	17	DCC	T	2	2
LRRC30	339291	broad.mit.edu	36	18	7221759	7221759	+	Missense_Mutation	SNP	T	C	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:7221759T>C	uc010dku.1	+	c.623T>C	c.(622-624)CTG>CCG	p.L208P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	208	LRR 6.									ovary(1)|liver(1)	2														0.339806	96.996535	99.33153	35	68	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7221759	7221759	9360	18	T	C	C	55	55	LRRC30	C	4	4
SARS2	54938	broad.mit.edu	36	19	44100586	44100586	+	Missense_Mutation	SNP	T	G	G			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44100586T>G	uc002oka.1	-	c.950A>C	c.(949-951)GAC>GCC	p.D317A	SARS2_uc002ojz.1_Missense_Mutation_p.D127A|SARS2_uc002okb.1_Missense_Mutation_p.D317A	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2	317					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)	2	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)													0.375	6.520989	6.631373	3	5	TT		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Missense_Mutation	SNP	44100586	44100586	14326	19	T	G	G	58	58	SARS2	G	4	4
CYP2A13	1553	broad.mit.edu	36	19	46292737	46292737	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46292737C>T	uc002opt.1	+	c.1195C>T	c.(1195-1197)CTG>TTG	p.L399L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	399					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)									0.386792	247.895892	250.27877	82	130	CC		KEEP	---	---	---	---	capture			Silent	SNP	46292737	46292737	4326	19	C	T	T	28	28	CYP2A13	T	2	2
PSG8	440533	broad.mit.edu	36	19	47950534	47950534	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47950534C>T	uc002ouo.1	-	c.1034G>A	c.(1033-1035)CGT>CAT	p.R345H	PSG3_uc002ouf.1_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002ouj.2_Missense_Mutation_p.R127H|PSG8_uc002ouk.2_Missense_Mutation_p.R184H|PSG8_uc002oul.2_Missense_Mutation_p.R345H|PSG8_uc002oum.2_Missense_Mutation_p.R252H|PSG1_uc002oun.1_Intron|PSG8_uc002oup.2_Missense_Mutation_p.R252H|PSG8_uc010eim.1_Missense_Mutation_p.R91H|PSG8_uc002ouh.1_Missense_Mutation_p.R345H|PSG8_uc010ein.1_Missense_Mutation_p.R223H|PSG8_uc002oui.1_Missense_Mutation_p.R184H	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	345	Ig-like C2-type 3.					extracellular region					0		Prostate(69;0.00899)												0.357143	198.591129	202.115711	70	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47950534	47950534	13114	19	C	T	T	19	19	PSG8	T	1	1
CEACAM16	388551	broad.mit.edu	36	19	49900742	49900742	+	Missense_Mutation	SNP	G	T	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:49900742G>T	uc002ozq.1	+	c.881G>T	c.(880-882)CGC>CTC	p.R294L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	235										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)												0.444444	47.893429	47.990463	16	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49900742	49900742	3321	19	G	T	T	38	38	CEACAM16	T	3	3
MUC16	94025	broad.mit.edu	36	19	8867685	8867685	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8867685C>T	uc002mkp.1	-	c.39563G>A	c.(39562-39564)GGC>GAC	p.G13188D	MUC16_uc010dwh.1_5'Flank|MUC16_uc010dwi.1_Non-coding_Transcript|MUC16_uc010dwj.1_Missense_Mutation_p.G5D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13190	SEA 8.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.391635	302.848321	305.524673	103	160	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8867685	8867685	10367	19	C	T	T	26	26	MUC16	T	2	2
AMPD1	270	broad.mit.edu	36	1	115017340	115017340	+	Missense_Mutation	SNP	G	T	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115017340G>T	uc001efe.1	-	c.2162C>A	c.(2161-2163)GCC>GAC	p.A721D	DENND2C_uc001eez.2_5'Flank|AMPD1_uc001eff.1_Missense_Mutation_p.A717D	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	721					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			Adenosine monophosphate(DB00131)									0.359649	117.139141	119.118071	41	73	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	115017340	115017340	588	1	G	T	T	42	42	AMPD1	T	3	3
FAM132A	388581	broad.mit.edu	36	1	1169279	1169279	+	Missense_Mutation	SNP	A	C	C			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1169279A>C	uc001adl.1	-	c.449T>G	c.(448-450)GTG>GGG	p.V150G		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	150						extracellular region					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)								448				0.3	6.72041	7.078308	3	7	AA		KEEP	---	---	---	---	capture		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Missense_Mutation	SNP	1169279	1169279	5639	1	A	C	C	6	6	FAM132A	C	4	4
MEX3A	92312	broad.mit.edu	36	1	154313253	154313253	+	Silent	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154313253C>A	uc001fnd.2	-	c.1299G>T	c.(1297-1299)GCG>GCT	p.A433A		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	433						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)													0.4	6.649494	6.693071	2	3	CC		KEEP	---	---	---	---	capture			Silent	SNP	154313253	154313253	9899	1	C	A	A	23	23	MEX3A	A	3	3
IQGAP3	128239	broad.mit.edu	36	1	154799592	154799592	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154799592C>T	uc001fpf.1	-	c.756G>A	c.(754-756)CTG>CTA	p.L252L	IQGAP3_uc009wsb.1_Silent_p.L209L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	252					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)	5	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.407666	311.876628	314.025126	117	170	CC		KEEP	---	---	---	---	capture			Silent	SNP	154799592	154799592	8119	1	C	T	T	21	21	IQGAP3	T	2	2
NECAP2	55707	broad.mit.edu	36	1	16650925	16650925	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16650925G>A	uc001ayo.1	+	c.495G>A	c.(493-495)ATG>ATA	p.M165I	NECAP2_uc001ayp.2_Non-coding_Transcript|NECAP2_uc001ayq.1_Missense_Mutation_p.M165I	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	165					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.525316	484.973444	485.145099	166	150	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16650925	16650925	10707	1	G	A	A	45	45	NECAP2	A	2	2
KCNT2	343450	broad.mit.edu	36	1	194494044	194494044	+	Missense_Mutation	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:194494044C>A	uc001gtd.1	-	c.3114G>T	c.(3112-3114)CAG>CAT	p.Q1038H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1038	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.371901	126.339261	128.085262	45	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	194494044	194494044	8397	1	C	A	A	28	28	KCNT2	A	3	3
PUM1	9698	broad.mit.edu	36	1	31178737	31178737	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31178737C>T	uc001bsk.1	-	c.3583G>A	c.(3583-3585)GGC>AGC	p.G1195S	PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsg.1_Missense_Mutation_p.G891S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsi.1_Missense_Mutation_p.G1157S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	1157	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.494505	422.109545	422.116873	135	138	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	31178737	31178737	13283	1	C	T	T	21	21	PUM1	T	2	2
KCNQ4	9132	broad.mit.edu	36	1	41058468	41058468	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41058468C>T	uc001cgh.1	+	c.990C>T	c.(988-990)CAC>CAT	p.H330H	KCNQ4_uc001cgi.1_Silent_p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	330	Cytoplasmic.				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)												0.185185	7.748735	10.274605	5	22	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Silent	SNP	41058468	41058468	8390	1	C	T	T	18	18	KCNQ4	T	2	2
PLK1S1	55857	broad.mit.edu	36	20	21091040	21091040	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21091040G>A	uc002wsb.1	+	c.934G>A	c.(934-936)GAG>AAG	p.E312K	PLK1S1_uc010gcy.1_Non-coding_Transcript|PLK1S1_uc002wsd.1_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	non-protein coding RNA 153	312					spindle organization	centrosome	protein kinase binding				0														0.384615	42.030438	42.48014	15	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21091040	21091040	12521	20	G	A	A	45	45	PLK1S1	A	2	2
NMS	129521	broad.mit.edu	36	2	100456423	100456423	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100456423G>A	uc002tan.1	+	c.173G>A	c.(172-174)CGC>CAC	p.R58H		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.340426	43.182523	44.241859	16	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100456423	100456423	10905	2	G	A	A	38	38	NMS	A	1	1
SLC4A10	57282	broad.mit.edu	36	2	162521833	162521833	+	Missense_Mutation	SNP	C	G	G			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:162521833C>G	uc002ubx.2	+	c.2630C>G	c.(2629-2631)GCC>GGC	p.A877G	SLC4A10_uc002uby.2_Missense_Mutation_p.A847G	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	877	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.428571	6.936485	6.964291	3	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162521833	162521833	15148	2	C	G	G	26	26	SLC4A10	G	3	3
TTN	7273	broad.mit.edu	36	2	179165778	179165778	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179165778G>A	uc002umr.1	-	c.51610C>T	c.(51610-51612)CCG>TCG	p.P17204S	TTN_uc002ums.1_Missense_Mutation_p.P10899S|TTN_uc010frc.1_Missense_Mutation_p.P10832S|TTN_uc010frd.1_Missense_Mutation_p.P10707S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18131										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				0.345382	243.672285	248.929867	86	163	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179165778	179165778	17290	2	G	A	A	41	41	TTN	A	2	2
ZFAND2B	130617	broad.mit.edu	36	2	219781259	219781259	+	Missense_Mutation	SNP	A	G	G			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219781259A>G	uc002vka.1	+	c.472A>G	c.(472-474)ACA>GCA	p.T158A	ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjy.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	158						endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)												0.419355	87.073998	87.416467	26	36	AA		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219781259	219781259	18216	2	A	G	G	14	14	ZFAND2B	G	4	4
MXD1	4084	broad.mit.edu	36	2	70017965	70017965	+	Missense_Mutation	SNP	T	C	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:70017965T>C	uc002sfy.1	+	c.413T>C	c.(412-414)ATT>ACT	p.I138T		NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	138					cell proliferation|multicellular organismal development|regulation of transcription, DNA-dependent	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity				0														0.397959	121.392323	122.288105	39	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70017965	70017965	10393	2	T	C	C	52	52	MXD1	C	4	4
C2orf51	200523	broad.mit.edu	36	2	88609963	88609963	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:88609963G>A	uc002stb.1	+	c.399G>A	c.(397-399)CCG>CCA	p.P133P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	133						nucleus					0														0.305556	115.343201	120.201113	44	100	GG		KEEP	---	---	---	---	capture			Silent	SNP	88609963	88609963	2261	2	G	A	A	40	40	C2orf51	A	1	1
NUDT16	131870	broad.mit.edu	36	3	132583752	132583752	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132583752C>T	uc003eof.1	+	c.212C>T	c.(211-213)CCA>CTA	p.P71L	NUDT16_uc003eog.1_Missense_Mutation_p.P71L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	nudix-type motif 16	104	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding				0														0.161765	15.87561	23.293598	11	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132583752	132583752	11137	3	C	T	T	21	21	NUDT16	T	2	2
SPSB4	92369	broad.mit.edu	36	3	142348735	142348735	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142348735G>A	uc003ett.1	+	c.756G>A	c.(754-756)CAG>CAA	p.Q252Q	SPSB4_uc010hum.1_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	252	SOCS box.				intracellular signal transduction	cytoplasm	protein binding				0														0.463768	92.294627	92.373094	32	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	142348735	142348735	15629	3	G	A	A	34	34	SPSB4	A	2	2
RYBP	23429	broad.mit.edu	36	3	72510309	72510309	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:72510309C>T	uc003dpe.1	-	c.574G>A	c.(574-576)GGG>AGG	p.G192R		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	202	Interaction with E4TF1B.|Ser-rich.				apoptosis|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)												0.285714	33.684322	35.413888	12	30	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	Missense_Mutation	SNP	72510309	72510309	14246	3	C	T	T	22	22	RYBP	T	2	2
ODZ3	55714	broad.mit.edu	36	4	183895021	183895021	+	Missense_Mutation	SNP	G	T	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183895021G>T	uc003ivd.1	+	c.3034G>T	c.(3034-3036)GCA>TCA	p.A1012S	ODZ3_uc003ive.1_Missense_Mutation_p.A418S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1012	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)												0.285714	62.86046	66.324819	24	60	GG		KEEP	---	---	---	---	capture		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	Missense_Mutation	SNP	183895021	183895021	11241	4	G	T	T	46	46	ODZ3	T	3	3
TRIML1	339976	broad.mit.edu	36	4	189300471	189300471	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189300471G>C	uc003izm.1	+	c.576G>C	c.(574-576)GAG>GAC	p.E192D	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	192	Potential.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)				Melanoma(31;213 1036 16579 23968 32372)								0.2875	66.391701	69.631879	23	57	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	Missense_Mutation	SNP	189300471	189300471	17100	4	G	C	C	35	35	TRIML1	C	3	3
RFC1	5981	broad.mit.edu	36	4	38982941	38982941	+	Missense_Mutation	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38982941C>A	uc003gty.1	-	c.2001G>T	c.(1999-2001)GAG>GAT	p.E667D	RFC1_uc003gtx.1_Missense_Mutation_p.E666D	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)	3						Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)								0.363868	397.678747	404.101523	143	250	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38982941	38982941	13715	4	C	A	A	20	20	RFC1	A	3	3
LIMCH1	22998	broad.mit.edu	36	4	41316110	41316110	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:41316110G>A	uc003gvz.2	+	c.354G>A	c.(352-354)ACG>ACA	p.T118T	LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gvu.2_Silent_p.T277T|LIMCH1_uc003gvv.2_Silent_p.T277T|LIMCH1_uc003gvw.2_Silent_p.T277T|LIMCH1_uc003gvx.2_Silent_p.T277T|LIMCH1_uc003gwe.2_Silent_p.T277T|LIMCH1_uc003gvy.2_Silent_p.T118T|LIMCH1_uc003gwa.2_Silent_p.T118T|LIMCH1_uc003gwb.1_Silent_p.T125T|LIMCH1_uc003gwc.2_Silent_p.T123T|LIMCH1_uc003gwd.2_Silent_p.T123T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	277					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)	3														0.396341	200.841419	202.38324	65	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	41316110	41316110	9123	4	G	A	A	39	39	LIMCH1	A	1	1
PCDHA12	56137	broad.mit.edu	36	5	140237226	140237226	+	Missense_Mutation	SNP	C	T	T	rs73263833	by-1000genomes	TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140237226C>T	uc003lic.1	+	c.1985C>T	c.(1984-1986)ACG>ATG	p.T662M	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Missense_Mutation_p.T662M	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	662	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.416667	69.063179	69.426922	25	35	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140237226	140237226	11942	5	C	T	T	19	19	PCDHA12	T	1	1
G3BP1	10146	broad.mit.edu	36	5	151160536	151160536	+	Missense_Mutation	SNP	G	T	T			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:151160536G>T	uc003lun.1	+	c.1107G>T	c.(1105-1107)TTG>TTT	p.L369F	G3BP1_uc003lum.1_Missense_Mutation_p.L369F|G3BP1_uc010jhz.1_Missense_Mutation_p.L187F|G3BP1_uc003luq.1_Missense_Mutation_p.L37F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	369	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			ovary(1)	1		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)												0.264368	119.875039	128.606071	46	128	GG		KEEP	---	---	---	---	capture	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Missense_Mutation	SNP	151160536	151160536	6392	5	G	T	T	46	46	G3BP1	T	3	3
GRIA1	2890	broad.mit.edu	36	5	153010214	153010214	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:153010214C>T	uc003luy.2	+	c.592C>T	c.(592-594)CGG>TGG	p.R198W	GRIA1_uc003lva.2_Missense_Mutation_p.R198W|GRIA1_uc003luz.2_Missense_Mutation_p.R103W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	NM_000827	NP_000818	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	198	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)			Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.333333	119.953601	123.324094	46	92	CC		KEEP	---	---	---	---	capture	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Missense_Mutation	SNP	153010214	153010214	7045	5	C	T	T	27	27	GRIA1	T	1	1
CCNG1	900	broad.mit.edu	36	5	162802084	162802084	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:162802084C>T	uc003lzb.1	+	c.823C>T	c.(823-825)CGG>TGG	p.R275W	CCNG1_uc003lzc.2_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	cyclin G1	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				lung(1)|kidney(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)								99				0.351598	214.790991	219.052854	77	142	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	Missense_Mutation	SNP	162802084	162802084	3050	5	C	T	T	19	19	CCNG1	T	1	1
EIF4E1B	253314	broad.mit.edu	36	5	176004846	176004846	+	Missense_Mutation	SNP	A	G	G			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176004846A>G	uc010jkf.1	+	c.470A>G	c.(469-471)GAG>GGG	p.E157G	TSPAN17_uc003mes.2_5'Flank|TSPAN17_uc003met.1_5'Flank|TSPAN17_uc003meu.1_5'Flank|TSPAN17_uc003mev.1_5'Flank|TSPAN17_uc003mew.1_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	157	EIF4EBP1/2/3 binding (By similarity).				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)												0.454545	9.527518	9.551686	5	6	AA		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176004846	176004846	5220	5	A	G	G	11	11	EIF4E1B	G	4	4
TMEM181	57583	broad.mit.edu	36	6	158970755	158970755	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:158970755G>A	uc003qrm.2	+	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	537					pathogenesis	integral to membrane	toxin binding			ovary(2)	2		Breast(66;0.000776)|Ovarian(120;0.0303)												0.273684	136.21724	144.985634	52	138	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	Missense_Mutation	SNP	158970755	158970755	16634	6	G	A	A	37	37	TMEM181	A	1	1
PPP1R11	6992	broad.mit.edu	36	6	30143199	30143199	+	Silent	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30143199C>A	uc003npb.1	+	c.33C>A	c.(31-33)ACC>ACA	p.T11T	PPP1R11_uc010jrw.1_Non-coding_Transcript|PPP1R11_uc003npc.1_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	11						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)	1						Pancreas(185;1767 3918 43793)								0.367521	118.195316	119.999005	43	74	CC		KEEP	---	---	---	---	capture			Silent	SNP	30143199	30143199	12788	6	C	A	A	23	23	PPP1R11	A	3	3
COL9A1	1297	broad.mit.edu	36	6	71060728	71060728	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:71060728C>T	uc003pfg.2	-	c.559G>A	c.(559-561)GTG>ATG	p.V187M		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	187	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.367187	264.17575	268.147709	94	162	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71060728	71060728	3845	6	C	T	T	19	19	COL9A1	T	1	1
SLC26A5	375611	broad.mit.edu	36	7	102835589	102835589	+	Missense_Mutation	SNP	A	T	T			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102835589A>T	uc003vbz.1	-	c.833T>A	c.(832-834)TTT>TAT	p.F278Y	SLC26A5_uc003vbt.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.1_Non-coding_Transcript|SLC26A5_uc003vbx.1_Missense_Mutation_p.F278Y|SLC26A5_uc003vby.1_Non-coding_Transcript|SLC26A5_uc010liy.1_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	278	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.282178	135.659939	144.294718	57	145	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102835589	102835589	15017	7	A	T	T	1	1	SLC26A5	T	4	4
CFTR	1080	broad.mit.edu	36	7	117094219	117094219	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117094219C>T	uc003vjd.1	+	c.4264C>T	c.(4264-4266)CGG>TGG	p.R1422W		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1422	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.232877	40.136238	44.906321	17	56	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Missense_Mutation	SNP	117094219	117094219	3427	7	C	T	T	27	27	CFTR	T	1	1
KIAA1549	57670	broad.mit.edu	36	7	138196583	138196583	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138196583G>C	uc003vuk.2	-	c.4939C>G	c.(4939-4941)CTC>GTC	p.L1647V	KIAA1549_uc003vul.2_Missense_Mutation_p.L519V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670	1697						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.213592	46.092906	53.902002	22	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138196583	138196583	8553	7	G	C	C	35	35	KIAA1549	C	3	3
OR2A14	135941	broad.mit.edu	36	7	143457744	143457744	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143457744C>T	uc003wdy.1	+	c.606C>T	c.(604-606)TGC>TGT	p.C202C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.275986	390.305382	415.52406	154	404	CC		KEEP	---	---	---	---	capture			Silent	SNP	143457744	143457744	11382	7	C	T	T	27	27	OR2A14	T	1	1
CNTNAP2	26047	broad.mit.edu	36	7	146723783	146723783	+	Missense_Mutation	SNP	G	C	C			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:146723783G>C	uc003weu.1	+	c.1648G>C	c.(1648-1650)GAC>CAC	p.D550H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	550	Extracellular (Potential).|Laminin G-like 2.				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)												0.198052	168.096904	194.238424	61	247	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	146723783	146723783	3785	7	G	C	C	45	45	CNTNAP2	C	3	3
FKBP9	11328	broad.mit.edu	36	7	33011398	33011398	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:33011398G>A	uc003tdh.1	+	c.1623G>A	c.(1621-1623)ATG>ATA	p.M541I		NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9	541	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14														0.323741	116.518099	120.356003	45	94	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.0156)		Missense_Mutation	SNP	33011398	33011398	6153	7	G	A	A	48	48	FKBP9	A	2	2
STK17A	9263	broad.mit.edu	36	7	43589391	43589391	+	Silent	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43589391C>T	uc003tih.1	+	c.24C>T	c.(22-24)GGC>GGT	p.G8G		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	8					apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0										120				0.347826	21.392688	21.862943	8	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	43589391	43589391	15810	7	C	T	T	25	25	STK17A	T	2	2
ATAD2	29028	broad.mit.edu	36	8	124451320	124451320	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124451320C>T	uc003yqh.2	-	c.853G>A	c.(853-855)GAT>AAT	p.D285N	ATAD2_uc003yqi.2_Non-coding_Transcript|ATAD2_uc003yqj.2_Missense_Mutation_p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	285	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)													0.346154	81.399845	83.03059	27	51	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00288)		Missense_Mutation	SNP	124451320	124451320	1090	8	C	T	T	32	32	ATAD2	T	2	2
DLC1	10395	broad.mit.edu	36	8	13295519	13295519	+	Nonsense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:13295519G>A	uc003wwm.1	-	c.1228C>T	c.(1228-1230)CGA>TGA	p.R410*	DLC1_uc003wwn.1_Nonsense_Mutation_p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7									p.R410*(JHUEM7-Tumor)	739				0.373786	219.920541	222.803152	77	129	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	13295519	13295519	4730	8	G	A	A	40	40	DLC1	A	5	1
MTUS1	57509	broad.mit.edu	36	8	17617613	17617613	+	Missense_Mutation	SNP	A	G	G			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17617613A>G	uc003wxv.1	-	c.2527T>C	c.(2527-2529)TAT>CAT	p.Y843H	MTUS1_uc003wxt.1_Missense_Mutation_p.Y90H|MTUS1_uc010lsy.1_Non-coding_Transcript|MTUS1_uc003wxw.1_Missense_Mutation_p.Y789H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	843						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2														0.375839	386.343749	390.370277	112	186	AA		KEEP	---	---	---	---	capture		Colorectal(111;0.0778)	Missense_Mutation	SNP	17617613	17617613	10358	8	A	G	G	13	13	MTUS1	G	4	4
OLFML2A	169611	broad.mit.edu	36	9	126601559	126601559	+	Missense_Mutation	SNP	A	C	C			TCGA-12-5295-01	TCGA-12-5295-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126601559A>C	uc004bov.1	+	c.637A>C	c.(637-639)ACC>CCC	p.T213P	OLFML2A_uc004bow.1_5'Flank|OLFML2A_uc010mwr.1_Missense_Mutation_p.T177P	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	213											0														0.625	8.122089	8.198003	5	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126601559	126601559	11262	9	A	C	C	6	6	OLFML2A	C	4	4
FREM1	158326	broad.mit.edu	36	9	14779086	14779086	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14779086G>A	uc003zlm.1	-	c.4008C>T	c.(4006-4008)TCC>TCT	p.S1336S	FREM1_uc010mic.1_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1336	CSPG 9.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.428571	37.306403	37.428242	12	16	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Silent	SNP	14779086	14779086	6291	9	G	A	A	43	43	FREM1	A	2	2
TEK	7010	broad.mit.edu	36	9	27195000	27195000	+	Silent	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:27195000G>A	uc003zqi.2	+	c.2301G>A	c.(2299-2301)CTG>CTA	p.L767L	TEK_uc003zqj.1_Silent_p.L701L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	767	Helical; (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				0.33	182.095081	187.211638	66	134	GG		KEEP	---	---	---	---	capture		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Silent	SNP	27195000	27195000	16278	9	G	A	A	45	45	TEK	A	2	2
FAM199X	139231	broad.mit.edu	36	X	103321062	103321062	+	Missense_Mutation	SNP	T	C	C			TCGA-12-5295-01	TCGA-12-5295-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:103321062T>C	uc004elw.1	+	c.1114T>C	c.(1114-1116)TCC>CCC	p.S372P	FAM199X_uc004elx.1_Missense_Mutation_p.S146P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	372										ovary(1)	1														0.333333	200.833211	205.55794	64	128	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103321062	103321062	5744	23	T	C	C	58	58	FAM199X	C	4	4
COL4A5	1287	broad.mit.edu	36	X	107798270	107798270	+	Missense_Mutation	SNP	G	A	A			TCGA-12-5295-01	TCGA-12-5295-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:107798270G>A	uc004enz.1	+	c.3670G>A	c.(3670-3672)GAA>AAA	p.E1224K	COL4A5_uc010npl.1_Missense_Mutation_p.E1224K|COL4A5_uc010npm.1_Missense_Mutation_p.E1224K|COL4A5_uc010npn.1_Missense_Mutation_p.E1224K	NM_033380	NP_000486	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.371429	113.096413	114.621882	39	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107798270	107798270	3832	23	G	A	A	37	37	COL4A5	A	1	1
ZNF275	10838	broad.mit.edu	36	X	152266224	152266224	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152266224C>T	uc004fhh.1	+	c.1055C>T	c.(1054-1056)CCC>CTC	p.P352L	ZNF275_uc004fhg.1_Missense_Mutation_p.P296L	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	296										ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.318182	20.015897	20.663081	7	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152266224	152266224	18402	23	C	T	T	22	22	ZNF275	T	2	2
SLC10A3	8273	broad.mit.edu	36	X	153369502	153369502	+	Silent	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153369502C>A	uc004flp.1	-	c.972G>T	c.(970-972)CTG>CTT	p.L324L	UBL4A_uc004flo.1_5'Flank|SLC10A3_uc004flq.1_Silent_p.L324L|SLC10A3_uc004flr.1_Silent_p.L295L|SLC10A3_uc010nuz.1_Silent_p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	324	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)	1	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)													0.336283	103.986014	106.679845	38	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	153369502	153369502	14870	23	C	A	A	21	21	SLC10A3	A	3	3
FOXR2	139628	broad.mit.edu	36	X	55667038	55667038	+	Missense_Mutation	SNP	C	T	T			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55667038C>T	uc004duo.1	+	c.169C>T	c.(169-171)CCA>TCA	p.P57S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	57					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3														0.3	135.548829	141.260945	48	112	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55667038	55667038	6278	23	C	T	T	22	22	FOXR2	T	2	2
YIPF6	286451	broad.mit.edu	36	X	67659445	67659445	+	Missense_Mutation	SNP	C	A	A			TCGA-12-5295-01	TCGA-12-5295-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67659445C>A	uc004dwy.1	+	c.553C>A	c.(553-555)CTT>ATT	p.L185I		NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	185	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0														0.327485	148.532818	153.050909	56	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67659445	67659445	18065	23	C	A	A	28	28	YIPF6	A	3	3
EHBP1L1	254102	broad.mit.edu	36	11	65106036	65106036	+	Frame_Shift_Del	DEL	A	-	-			TCGA-12-5295-01	TCGA-12-5295-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65106036_65106036delA	uc001oeo.2	+	c.1317_1317delA	c.(1315-1317)GGAfs	p.G439fs	EHBP1L1_uc009yqm.1_Intron|EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	439										central_nervous_system(1)	1														0.33			20	41				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	65106036	65106036	5165	11	A	-	-	10	10	EHBP1L1	-	5	5
MYO16	23026	broad.mit.edu	36	13	108590875	108590875	+	Frame_Shift_Del	DEL	G	-	-			TCGA-12-5295-01	TCGA-12-5295-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108590875_108590875delG	uc010agk.1	+	c.4314_4314delG	c.(4312-4314)CTGfs	p.L1438fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1416	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	108590875	108590875	10459	13	G	-	-	47	47	MYO16	-	5	5
