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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCNB3	85417	broad.mit.edu	37	X	50053615	50053615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:50053615C>T	uc004dox.4	+	5	2744	c.2446C>T	c.(2446-2448)Ctc>Ttc	p.L816F	CCNB3_uc004doy.3_Missense_Mutation_p.L816F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	816					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.V815I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAAGCTGTCCTCAAGGAGCC	0.567000														7			19		0	0	0.014323	0	0
DIEXF	27042	broad.mit.edu	37	1	210016907	210016907	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:210016907C>T	uc001hhr.2	+	10	1990	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	DIEXF_uc009xcu.2_Silent_p.F346F	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	631					multicellular organismal development	nucleus		p.F631L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAATTACTTCAAGAAGGAGG	0.453000														48			13		0	0	0.016723	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47585753	47585753	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:47585753G>C	uc002xtx.4	+	8	1281	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	377					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	p.L376F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCCTTCCTTGTGTTCCGCTC	0.532000														56			32		0	0	0.009535	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822644	73822644	+	Silent	SNP	C	T	T	rs115217058	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:73822644C>T	uc001jso.2	-	10	1594	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Silent_p.S383S	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	383					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAAAGTCCCCCGAGAAGCCCA	0.667000														16			4		0	0	0.014758	0	0
IDO2	169355	broad.mit.edu	37	8	39873110	39873110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:39873110C>T	uc010lwy.1	+	10	1494	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P159S|IDO2_uc003xnp.1_Missense_Mutation_p.P159S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	405					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AATCCTTCACCCACGTGGTTA	0.572000														38			19		0	0	0.007413	0	0
ADCY1	107	broad.mit.edu	37	7	45725676	45725676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45725676C>T	uc003tne.4	+	12	2207	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	730					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACACACCATGCCCTGCTCTGC	0.632000														53			15		0	0	0.020292	0	0
ZNF99	7652	broad.mit.edu	37	19	22941691	22941691	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22941691G>A	uc021urt.1	-	3	1175	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTAGGGTTTCTTTC	0.368000														40			12		0	0	0.010729	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651306	78651306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:78651306C>T	uc001jxn.3	-	25	3496	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D999N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D1053N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D725N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D898N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D732N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D1090N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D1049N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D1079N|BC030624_uc001jxp.3_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1107					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AATGGCCCATCGAGCAGAGCT	0.572000														25			16		0	0	0.028581	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:55933851C>T	uc003pcs.3	-	21	2316	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000														20			4		0	0	0.014758	0	0
ACSL5	51703	broad.mit.edu	37	10	114136158	114136158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:114136158G>A	uc001kzu.3	+	0	203	c.91G>A	c.(91-93)Gga>Aga	p.G31R	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTCAGAGCCGGGAAGCCCCCA	0.602000														82			34		0	0	0.019004	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585929	20585929	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:20585929A>T	uc002wrz.3	-	14	2071	c.1928T>A	c.(1927-1929)aTt>aAt	p.I643N	RALGAPA2_uc002wry.3_Missense_Mutation_p.I258N|RALGAPA2_uc010zsg.2_Missense_Mutation_p.I44N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	643					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGTCCATAATGTTGGCCCA	0.448000														35			11		0	0	0.016723	0	0
C15orf2	23742	broad.mit.edu	37	15	24923207	24923207	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:24923207G>A	uc001ywo.3	+	0	2667	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	731					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGGTTCTGGGAACACACAAC	0.537000														102			40		0	0	0.023175	0	0
ITGA2	3673	broad.mit.edu	37	5	52360772	52360772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:52360772G>A	uc003joy.3	+	13	1776	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G469S|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	545					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTTCTTGAAGGCCCCGAGGG	0.413000														63			52		0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:124395546C>T	uc001lgk.1	+	49	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_uc001lgl.1_Silent_p.F2057F|DMBT1_uc001lgm.1_Silent_p.F1439F|DMBT1_uc021qaf.1_Silent_p.F2067F|DMBT1_uc021qag.1_Silent_p.F2057F|DMBT1_uc021qah.1_Silent_p.F1439F|DMBT1_uc009xzz.1_Silent_p.F2066F|DMBT1_uc010qtx.1_Silent_p.F787F|DMBT1_uc009yab.1_Silent_p.F770F|DMBT1_uc009yac.1_Silent_p.F361F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2067	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAAGTTTTCGATGGCCCCT	0.502000														41			14		0	0	0.020292	0	0
DNAH17	8632	broad.mit.edu	37	17	76492083	76492083	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:76492083T>A	uc010dhp.2	-	37	5902	c.5777A>T	c.(5776-5778)aAg>aTg	p.K1926M	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.F1925L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCTTTTTTCTTGGCCCGAAT	0.527000														44			19		0	0	0.008871	0	0
FOXP4	116113	broad.mit.edu	37	6	41555145	41555145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:41555145C>T	uc003oql.3	+	6	1225	c.767C>T	c.(766-768)gCc>gTc	p.A256V	FOXP4_uc003oqm.3_Missense_Mutation_p.A254V|FOXP4_uc003oqn.3_Missense_Mutation_p.A255V	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	256					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGGCACGGCCGCCACCGCT	0.682000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		93			33		0	0	0.015359	0	0
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:59059687C>T	uc002qtg.1	+	7	1417	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	TRIM28_uc010eut.1_Silent_p.L294L|TRIM28_uc002qth.1_5'UTR	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542000														64			21		0	0	0.010504	0	0
NCAM2	4685	broad.mit.edu	37	21	22838993	22838993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:22838993G>A	uc002yld.2	+	12	1970	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	NCAM2_uc011acb.2_Missense_Mutation_p.G432E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	574	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGTAAATGGAAAGGGACAA	0.318000														11			6		0	0	0.003080	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239169	45239169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:45239169G>A	uc002xsf.2	-	2	497	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SLC13A3_uc010ghn.2_Missense_Mutation_p.P122S|SLC13A3_uc010zxx.2_Missense_Mutation_p.P55S|SLC13A3_uc010zxw.2_Missense_Mutation_p.P153S|SLC13A3_uc002xsg.2_Missense_Mutation_p.P106S|SLC13A3_uc010gho.2_Missense_Mutation_p.P106S|SLC13A3_uc002xsi.4_Missense_Mutation_p.P106S	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	153						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTGGCAATGGGAAGCATCATG	0.547000														136			64		0	0	0.014410	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081910	6081910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:6081910C>T	uc010idb.1	-	6	1717	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	JAKMIP1_uc010idc.1_Missense_Mutation_p.D246N|JAKMIP1_uc010idd.1_Missense_Mutation_p.D411N|JAKMIP1_uc003giu.4_Missense_Mutation_p.D411N|JAKMIP1_uc011bwc.2_Missense_Mutation_p.D246N|JAKMIP1_uc003giv.4_Missense_Mutation_p.D411N|JAKMIP1_uc010ide.3_Missense_Mutation_p.D411N	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	411	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGAGAGGTCGTCAATGACG	0.617000														9			9		0	0	0.006214	0	0
INSL5	10022	broad.mit.edu	37	1	67263797	67263797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:67263797G>A	uc001dcw.3	-	1	345	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	Homo sapiens insulin-like 5 (INSL5), mRNA.	103						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						GACTTCCAAAGCTCTTCAGTG	0.458000														24			29		0	0	0.030593	0	0
APOB	338	broad.mit.edu	37	2	21229486	21229486	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:21229486C>T	uc002red.3	-	25	10382	c.10254G>A	c.(10252-10254)acG>acA	p.T3418T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3418	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATATTTTTCGTGGTTAAGC	0.388000														492			224		0	0	0.014410	0	0
IP6K3	117283	broad.mit.edu	37	6	33694609	33694609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33694609C>T	uc010jvf.2	-	4	1024	c.488G>A	c.(487-489)gGa>gAa	p.G163E	IP6K3_uc003ofb.2_Missense_Mutation_p.G163E	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	163					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AACCTGGTTTCCGTTGGTGTC	0.637000														94			34		0	0	0.019004	0	0
AP1M1	8907	broad.mit.edu	37	19	16338374	16338374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:16338374C>T	uc002ndv.2	+	7	898	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AP1M1_uc002ndu.2_Missense_Mutation_p.S230F|AP1M1_uc010xpd.1_Missense_Mutation_p.S230F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	230	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAAAGCAAATCCGTGGAGCTG	0.602000														89			38		0	0	0.025465	0	0
TMC5	79838	broad.mit.edu	37	16	19451476	19451476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:19451476C>T	uc002dgc.4	+	2	865	c.116C>T	c.(115-117)cCa>cTa	p.P39L	TMC5_uc010vaq.2_Missense_Mutation_p.P39L|TMC5_uc002dgb.4_Missense_Mutation_p.P39L|TMC5_uc010var.2_Missense_Mutation_p.P39L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	39						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGATGTTCCAGGTCCTCTG	0.507000														70			30		0	0	0.009535	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710533	40710533	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:40710533C>T	uc002ona.3	+	2	1293	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	335	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGCCCGCCTCCTGGAGGGTG	0.647000														44			20		0	0	0.007413	0	0
NMD3	51068	broad.mit.edu	37	3	160967344	160967344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:160967344G>A	uc003feb.1	+	13	1425	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	NMD3_uc003fec.3_Missense_Mutation_p.E436K|NMD3_uc003fed.1_Missense_Mutation_p.E436K|NMD3_uc010hwh.3_Missense_Mutation_p.E256K	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	436	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TACAGATGATGAAAGGTCTCG	0.343000														13			3		0	0	0.004672	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047722	46047722	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:46047722C>T	uc002zfp.4	+	0	683	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	212	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GTGCTGCCAGCAGTCTGGCTG	0.637000														205			96		0	0	0.014410	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107905	26107905	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:26107905C>T	uc003ngj.3	-	0	460	c.417G>A	c.(415-417)agG>agA	p.R139R		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	139					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						ACTTGGAGTCCCTGGATAAAA	0.453000														74			23		0	0	0.014323	0	0
USH2A	7399	broad.mit.edu	37	1	216497652	216497652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:216497652C>T	uc001hku.1	-	6	1573	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	USH2A_uc001hkv.3_Missense_Mutation_p.E396K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	396	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCTTATTTCCGTTGGTTGT	0.313000										HNSCC(13;0.011)				17			6		0	0	0.029380	0	0
RYR1	6261	broad.mit.edu	37	19	38976703	38976703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:38976703C>T	uc002oit.3	+	33	5538	c.5408C>T	c.(5407-5409)cCg>cTg	p.P1803L	RYR1_uc002oiu.3_Missense_Mutation_p.P1803L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1803	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGCCATCCCGCTGGAGGCC	0.731000														40			16		0	0	0.033300	0	0
ZNF672	79894	broad.mit.edu	37	1	249142580	249142580	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:249142580C>T	uc001iex.3	+	3	1802	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C	ZNF672_uc021pme.1_Silent_p.C369C	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACAAATGCCCCGAGTGCA	0.637000														27			5		0	0	0.014758	0	0
LINGO4	339398	broad.mit.edu	37	1	151773710	151773710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:151773710C>T	uc001ezf.1	-	1	1661	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	LINGO4_uc021oyu.1_Missense_Mutation_p.G491R	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	491	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTCATTCCCAGCGACATTG	0.592000														165			66		0	0	0.014410	0	0
COL4A5	1287	broad.mit.edu	37	X	107865092	107865092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:107865092C>T	uc022ccg.1	+	31	2939	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S	COL4A5_uc004enz.1_Missense_Mutation_p.P913S|COL4A5_uc004eob.1_Missense_Mutation_p.P521S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	913	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGGAATTCCTGGCAGGAG	0.423000									Alport syndrome with Diffuse Leiomyomatosis					15			18		0	0	0.012319	0	0
CCR4	1233	broad.mit.edu	37	3	32995307	32995307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:32995307G>A	uc003cfg.1	+	1	561	c.393G>A	c.(391-393)atG>atA	p.M131I	CCR4_uc021wuw.1_Missense_Mutation_p.M131I	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	131					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCATGCTCATGAGCATTGATA	0.483000														199			69		0	0	0.014410	0	0
APBA1	320	broad.mit.edu	37	9	72067160	72067160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:72067160G>A	uc004ahh.2	-	8	2122	c.1846C>T	c.(1846-1848)Ctc>Ttc	p.L616F		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	616	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTGGCCCTGAGGAATTCCTGG	0.527000														72			26		0	0	0.024334	0	0
DNA2	1763	broad.mit.edu	37	10	70227960	70227960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:70227960G>A	uc021pru.1	-	2	619	c.619C>T	c.(619-621)Cca>Tca	p.P207S	DNA2_uc021prt.1_Missense_Mutation_p.P207S|DNA2_uc001jog.2_Missense_Mutation_p.P121S|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	121					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGCATGTCTGGATACAGAATC	0.388000														29			8		0	0	0.006214	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527029	100527029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:100527029G>A	uc003dun.3	-	18	1733	c.1648C>T	c.(1648-1650)Cca>Tca	p.P550S	ABI3BP_uc003duj.3_Missense_Mutation_p.P105S|ABI3BP_uc003duk.3_Missense_Mutation_p.P234S|ABI3BP_uc003dul.3_Missense_Mutation_p.P355S|ABI3BP_uc011bhd.2_Missense_Mutation_p.P504S|ABI3BP_uc003dum.3_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	550	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGATTCTTGGGCGTGGTGAT	0.393000														21			10		0	0	0.010729	0	0
NHS	4810	broad.mit.edu	37	X	17746034	17746034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:17746034C>T	uc011mix.2	+	6	4146	c.3808C>T	c.(3808-3810)Ccc>Tcc	p.P1270S	NHS_uc004cxx.3_Missense_Mutation_p.P1249S|NHS_uc004cxy.3_Missense_Mutation_p.P1093S|NHS_uc004cxz.3_Missense_Mutation_p.P1072S|NHS_uc004cya.3_Missense_Mutation_p.P972S	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1249						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGTGCTTTTCCCACAGAAGG	0.448000														24			49		0	0	0.014410	0	0
MFSD4	148808	broad.mit.edu	37	1	205553164	205553164	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205553164C>T	uc001hcv.4	+	3	858	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	MFSD4_uc010prk.2_Silent_p.L171L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L203L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	258					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCCCTGCTTCTGTCTGCTGA	0.602000														48			26		0	0	0.021523	0	0
ATG2A	23130	broad.mit.edu	37	11	64673226	64673226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:64673226G>A	uc001obx.3	-	22	3474	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	ATG2A_uc001obw.3_5'Flank	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1120							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATAGTCCACAGAGCAGGAGAA	0.632000														34			24		0	0	0.021523	0	0
LEMD2	221496	broad.mit.edu	37	6	33744975	33744975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33744975G>A	uc011drm.2	-	6	1211	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	LEMD2_uc010jvg.3_Missense_Mutation_p.R109W|LEMD2_uc011drl.2_Missense_Mutation_p.R98W	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	400						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TTTCGCCACCGATATTTTAGG	0.488000														174			64		0	0	0.014410	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626671	140626671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140626671G>A	uc003lje.3	+	0	1525	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	509	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T508M(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTAACACGGACAACGGCCA	0.677000														71			24		0	0	0.016522	0	0
IDO2	169355	broad.mit.edu	37	8	39872789	39872789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:39872789G>A	uc010lwy.1	+	10	1173	c.931G>A	c.(931-933)Gat>Aat	p.D311N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.D52N|IDO2_uc003xnp.1_Missense_Mutation_p.D52N	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	298					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGAATGAGGGATTACATGCC	0.458000														15			18		0	0	0.008871	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706125	92706125	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:92706125C>T	uc002bqx.2	+	9	2094	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	SLCO3A1_uc002bqy.2_Silent_p.I631I|SLCO3A1_uc002bqz.1_Silent_p.I573I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	631					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCATCGCCATCGCGCTCAAAT	0.552000														58			20		0	0	0.014323	0	0
PXN	5829	broad.mit.edu	37	12	120652731	120652731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:120652731C>T	uc001txv.3	-	7	1359	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	PXN_uc001txu.3_Missense_Mutation_p.G204E|PXN_uc001txx.3_Missense_Mutation_p.G225E|PXN_uc001txt.3_Missense_Mutation_p.G392E|PXN_uc001txy.3_Missense_Mutation_p.G358E|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	392	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCCGGGATCCGATCTCCTC	0.612000														66			23		0	0	0.014323	0	0
KEL	3792	broad.mit.edu	37	7	142640576	142640576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142640576G>A	uc003wcb.3	-	14	1910	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	567					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCCATACCTGGGATAGCCAGG	0.532000														92			40		0	0	0.010771	0	0
BTNL8	79908	broad.mit.edu	37	5	180335629	180335629	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:180335629G>A	uc003mmp.3	+	1	327	c.93G>A	c.(91-93)ttG>ttA	p.L31L	BTNL8_uc003mmq.3_Silent_p.L31L|BTNL8_uc010jll.3_Silent_p.L31L|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	31	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGGCCTTGGTGGGGGAGG	0.547000														75			7		0	0	0.004482	0	0
KLF17	128209	broad.mit.edu	37	1	44595857	44595857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:44595857G>A	uc001clp.3	+	1	972	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KLF17_uc009vxf.1_Missense_Mutation_p.R268H	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	305					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCCACCAGCGCAAGCACACA	0.557000														138			4		0	0	0.014758	0	0
PIAS3	10401	broad.mit.edu	37	1	145580316	145580316	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:145580316C>T	uc001eoc.1	+	5	889	c.798C>T	c.(796-798)ttC>ttT	p.F266F	PIAS3_uc010oyy.1_Silent_p.F257F|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	266	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGAGTTCGGACGGGTGA	0.567000														106			37		0	0	0.021022	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219622	42219622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:42219622G>A	uc002orl.3	+	3	878	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.E253K	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	253	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGATCAGGGGAAAATCTGAA	0.493000														48			20		0	0	0.007413	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136287656	136287656	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:136287656C>T	uc004cdv.4	+	0	537	c.93C>T	c.(91-93)tcC>tcT	p.S31S	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Silent_p.S31S|ADAMTS13_uc004cdu.1_Silent_p.S31S|ADAMTS13_uc004cdw.4_Silent_p.S31S|ADAMTS13_uc004cdx.4_Silent_p.S31S|ADAMTS13_uc004cdq.1_Silent_p.S31S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	31					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGACCCTCCCATTTCCAGC	0.632000														25			41		0	0	0.036044	0	0
CCBP2	1238	broad.mit.edu	37	3	42906333	42906333	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:42906333G>A	uc003cme.3	+	2	517	c.339G>A	c.(337-339)ggG>ggA	p.G113G	CCBP2_uc003cmf.3_Silent_p.G113G|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.G113G	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	113					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGGTCTTCGGGAGTTTCTTGT	0.483000														126			46		0	0	0.014410	0	0
HECTD2	143279	broad.mit.edu	37	10	93256117	93256117	+	Silent	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:93256117T>C	uc010qnm.1	+	15	1780	c.1680T>C	c.(1678-1680)tgT>tgC	p.C560C	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Silent_p.C556C|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Silent_p.C145C|HECTD2_uc001khn.1_Silent_p.C206C	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	556	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACGACTTATGTCAAATTATGC	0.378000														30			15		0	0	0.024245	0	0
ENPP1	5167	broad.mit.edu	37	6	132201098	132201098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:132201098C>T	uc011ecf.2	+	19	2044	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	675	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGTCTTCTTTCCCAGCACCAG	0.413000														59			30		0	0	0.009535	0	0
TCRA	0	broad.mit.edu	37	14	22315338	22315338	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:22315338C>T	uc001wbz.1	+	1	501	c.276C>T	c.(274-276)tcC>tcT	p.S92S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.S73S					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		GTGAAACCTCCTTCCACCTGA	0.507000														54			43		0	0	0.010771	0	0
MPP7	143098	broad.mit.edu	37	10	28347518	28347518	+	Missense_Mutation	SNP	C	T	T	rs145704516		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:28347518C>T	uc001iua.1	-	16	1717	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G438E|MPP7_uc009xla.2_Missense_Mutation_p.G438E|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	438	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTATATTCTCCATATTCAAT	0.313000														86			33		0	0	0.012213	0	0
ITGAX	3687	broad.mit.edu	37	16	31384650	31384650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:31384650G>A	uc002ebt.3	+	19	2514	c.2447G>A	c.(2446-2448)gGa>gAa	p.G816E	ITGAX_uc002ebu.1_Missense_Mutation_p.G816E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACTCCTACGGAACCACCATC	0.612000														47			27		0	0	0.030593	0	0
ZIK1	284307	broad.mit.edu	37	19	58101701	58101701	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:58101701G>A	uc002qpg.3	+	3	619	c.522G>A	c.(520-522)aaG>aaA	p.K174K	ZIK1_uc002qph.3_Silent_p.K119K|ZIK1_uc002qpi.3_Silent_p.K161K|ZIK1_uc002qpj.3_Silent_p.K71K	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G173E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGTTGGAAAGGACCTTCCAG	0.498000														60			20		0	0	0.008871	0	0
PSMC3	5702	broad.mit.edu	37	11	47446034	47446034	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:47446034G>A	uc001nfh.2	-	4	593	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	133					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCACAGGAAGGAAGTACGTCT	0.567000														13			14		0	0	0.020292	0	0
OR10H4	126541	broad.mit.edu	37	19	16060411	16060411	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:16060411C>T	uc010xov.2	+	0	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATCTGTCATCATGGGTGTGA	0.463000														151			85		0	0	0.014410	0	0
STK11	6794	broad.mit.edu	37	19	1218459	1218459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:1218459C>T	uc002lrl.1	+	1	1449	c.334C>T	c.(334-336)Cag>Tag	p.Q112*		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	112	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.E98_G155del(3)|p.?(3)|p.G52_P179del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATGTCATCCAGCTGGTGGA	0.562000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				69			54		0	0	0.014410	0	0
NGLY1	55768	broad.mit.edu	37	3	25805745	25805745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:25805745G>A	uc003cdl.3	-	2	412	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	NGLY1_uc010hfg.3_Missense_Mutation_p.R102C|NGLY1_uc003cdm.3_Missense_Mutation_p.R102C|NGLY1_uc011awo.2_Missense_Mutation_p.R60C|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	102					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R102S(2)|p.R102C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCAGGTCACGAATTTTTTGC	0.403000														128			34		0	0	0.017118	0	0
VPS8	23355	broad.mit.edu	37	3	184542424	184542424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:184542424G>A	uc021xik.1	+	0	92	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	VPS8_uc003fpb.1_Missense_Mutation_p.E2K|VPS8_uc010hyd.1_Missense_Mutation_p.E2K|VPS8_uc003fpc.1_Missense_Mutation_p.E2K	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	2							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGTAAATATGGAAAATGAACC	0.373000														33			8		0	0	0.004482	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265122	36265122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:36265122C>T	uc011cow.2	-	6	987	c.494G>A	c.(493-495)aGa>aAa	p.R165K	RANBP3L_uc003jkh.3_Missense_Mutation_p.R140K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	140					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AAATGTTTTTCTTACTTTTGC	0.373000														50			25		0	0	0.027356	0	0
TET2	54790	broad.mit.edu	37	4	106158380	106158380	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:106158380A>T	uc011cez.2	+	2	3749	c.3344A>T	c.(3343-3345)aAa>aTa	p.K1115I	TET2_uc003hxk.3_Missense_Mutation_p.K1094I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K1094I|TET2_uc010ilp.2_Missense_Mutation_p.K1094I|TET2_uc021xql.1_Missense_Mutation_p.K1094I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	1094					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1115fs*2(1)|p.P1115fs*15(1)|p.T1093fs*12(1)|p.T1114fs*16(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACACCAACCAAAAGAACAGCT	0.388000			"""Mis N, F"""		MDS									23			20		0	0	0.008871	0	0
CELF1	10658	broad.mit.edu	37	11	47498455	47498455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:47498455C>T	uc001nfp.3	-	11	1432	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	CELF1_uc001nfl.3_Missense_Mutation_p.G316R|CELF1_uc010rhm.2_Missense_Mutation_p.G315R|CELF1_uc001nfm.3_Missense_Mutation_p.G313R|CELF1_uc001nfk.2_Missense_Mutation_p.G342R|CELF1_uc001nfn.3_Missense_Mutation_p.G312R|CELF1_uc001nfr.1_Missense_Mutation_p.G316R	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	316					RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGCAGGGCTCCAAGTGAGGCT	0.502000														52			28		0	0	0.009535	0	0
WDR31	114987	broad.mit.edu	37	9	116085415	116085415	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:116085415G>A	uc004bhe.3	-	5	650	c.345C>T	c.(343-345)tcC>tcT	p.S115S	WDR31_uc004bhc.3_Silent_p.S114S|WDR31_uc004bhd.3_5'UTR|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	115										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGAACTGGCTGGATTTGGGAA	0.493000														53			21		0	0	0.016522	0	0
CHAT	1103	broad.mit.edu	37	10	50856580	50856581	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50856580_50856581GG>AA	uc001jhz.2	+	8	1462_1463	c.1309_1310GG>AA	c.(1309-1311)ggt>AAt	p.G437N	CHAT_uc001jhv.1_Missense_Mutation_p.G319N|CHAT_uc001jhx.1_Missense_Mutation_p.G319N|CHAT_uc001jhy.1_Missense_Mutation_p.G319N|CHAT_uc001jia.2_Missense_Mutation_p.G355N|CHAT_uc010qgs.1_Missense_Mutation_p.G319N	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	437					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.C436C(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CGGCACCTGCGGTGTGGTGTGC	0.604000														25			9		0	0	0.004672	0	0
ESRP2	80004	broad.mit.edu	37	16	68269602	68269602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:68269602C>T	uc010cfa.1	-	1	450	c.262G>A	c.(262-264)Gag>Aag	p.E88K	ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Missense_Mutation_p.E88K	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	88					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCGCTCGCCTCGCGGCACTGC	0.726000														19			5		0	0	0.014758	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725347	140725347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140725347G>A	uc003ljm.2	+	0	1747	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.E583K	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	584	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTCCGCAGAGCCCGGCTA	0.682000														79			29		0	0	0.009535	0	0
MTSS1	9788	broad.mit.edu	37	8	125570059	125570059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:125570059C>T	uc003yrl.2	-	11	1639	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.G139S|MTSS1_uc011lio.1_Missense_Mutation_p.G255S|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrk.2_Missense_Mutation_p.G365S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	365					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCCTGCACCCGTGGGCCCC	0.522000														22			3		0	0	0.014758	0	0
RAG2	5897	broad.mit.edu	37	11	36614751	36614751	+	Missense_Mutation	SNP	C	T	T	rs139419162		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:36614751C>T	uc021qge.1	-	0	968	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RAG2_uc021qgc.1_Missense_Mutation_p.G323E|RAG2_uc021qgd.1_Missense_Mutation_p.G323E|RAG2_uc001mwv.4_Missense_Mutation_p.G323E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	323					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.G323E(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGTTCCATTTCCCATGTTGCT	0.383000									Familial Hemophagocytic Lymphohistiocytosis					75			50		0	0	0.014410	0	0
PIAS2	9063	broad.mit.edu	37	18	44424036	44424036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:44424036C>T	uc002lck.3	-	7	1209	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	PIAS2_uc010dnp.3_Missense_Mutation_p.R39Q|PIAS2_uc010xda.2_Missense_Mutation_p.R39Q|PIAS2_uc002lcl.3_Missense_Mutation_p.R341Q|PIAS2_uc002lcm.3_Missense_Mutation_p.R341Q|PIAS2_uc002lcn.1_Missense_Mutation_p.R345Q	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	341					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	p.R341L(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CAAGGATACCCGAAGGCTAGT	0.303000														84			22		0	0	0.016522	0	0
TMEM131	23505	broad.mit.edu	37	2	98373814	98373814	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:98373814G>A	uc002syh.4	-	40	5629	c.5400C>T	c.(5398-5400)tcC>tcT	p.S1800S	TMEM131_uc002syg.3_Silent_p.S180S	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1800	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATGGAGTGGTGGACCACAGGC	0.597000														80			21		0	0	0.014323	0	0
ITGB4	3691	broad.mit.edu	37	17	73739906	73739906	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73739906C>T	uc002jpg.3	+	25	3262	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S	ITGB4_uc002jph.3_Silent_p.S1025S|ITGB4_uc002jpi.4_Silent_p.S1025S|ITGB4_uc002jpj.3_Silent_p.S1025S	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1025	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGGTCTCCTACCGCACAC	0.697000														11			5		0	0	0.014758	0	0
LRP1B	53353	broad.mit.edu	37	2	142567968	142567968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:142567968G>A	uc002tvj.1	-	1	1057	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.Q66*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	29					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAACTGCTGATCTGAAAAT	0.423000										TSP Lung(27;0.18)				15			12		0	0	0.010729	0	0
TPO	7173	broad.mit.edu	37	2	1437227	1437227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:1437227G>A	uc002qwr.3	+	3	283	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.G66E|TPO_uc002qww.3_Missense_Mutation_p.G66E|TPO_uc002qwx.3_Missense_Mutation_p.G66E|TPO_uc002qwu.3_Missense_Mutation_p.G66E|TPO_uc010yio.2_Missense_Mutation_p.G66E|TPO_uc010yip.2_Missense_Mutation_p.G66E	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	66					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGAAAAGAGGAATCCTTTCT	0.363000														28			14		0	0	0.028581	0	0
LOC100132247	0	broad.mit.edu	37	16	21858749	21858749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:21858749C>T	uc002djr.3	-	3	416	c.234G>A	c.(232-234)tgG>tgA	p.W78*	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Nonsense_Mutation_p.W59*|LOC100132247_uc010vbn.1_Nonsense_Mutation_p.W78*	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		GGTAAACTATCCAGAGGGTAA	0.358000														49			15		0	0	0.024245	0	0
HEATR1	55127	broad.mit.edu	37	1	236734652	236734652	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:236734652G>A	uc001hyd.2	-	28	4100	c.3948_splice	c.e28+1	p.P1316_splice	HEATR1_uc009xgh.2_Splice_Site_p.P478_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1316					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403000														20			9		0	0	0.006214	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998378	92998378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:92998378G>A	uc022axs.1	-	8	1617	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	RUNX1T1_uc003yfc.2_Missense_Mutation_p.P391L|RUNX1T1_uc010mam.3_Missense_Mutation_p.P391L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.P381L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.P418L|RUNX1T1_uc022axo.1_Missense_Mutation_p.P418L|RUNX1T1_uc010mao.3_Missense_Mutation_p.P391L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.P429L|RUNX1T1_uc022axp.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axq.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axr.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axt.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axu.1_Missense_Mutation_p.P398L|RUNX1T1_uc022axv.1_Missense_Mutation_p.P418L|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.P381L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	418					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGGTTGACGGGACTCTGCTG	0.458000														177			49		0	0	0.014410	0	0
DDC	1644	broad.mit.edu	37	7	50611656	50611656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:50611656G>A	uc003tpg.4	-	1	329	c.128C>T	c.(127-129)cCt>cTt	p.P43L	DDC_uc022ade.1_Missense_Mutation_p.P43L|DDC_uc003tpf.4_Missense_Mutation_p.P43L|DDC_uc022adb.1_Missense_Mutation_p.P43L|DDC_uc022adc.1_Missense_Mutation_p.P43L|DDC_uc022add.1_Missense_Mutation_p.P43L|DDC_uc022adf.1_Missense_Mutation_p.P43L	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	43					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGCAGCGGCAGGGATCAGCGG	0.562000														142			113		0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155200622	155200622	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:155200622T>C	uc021xge.1	-	22	3494	c.3217A>G	c.(3217-3219)Aat>Gat	p.N1073D	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.N1035D	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1073					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGGCAATTGCTTGTGGCA	0.522000														148			45		0	0	0.013114	0	0
DYSF	8291	broad.mit.edu	37	2	71742867	71742867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:71742867C>T	uc010fen.3	+	7	1015	c.874C>T	c.(874-876)Cca>Tca	p.P292S	DYSF_uc010fei.3_Missense_Mutation_p.P291S|DYSF_uc010feh.3_Missense_Mutation_p.P260S|DYSF_uc002sig.4_Missense_Mutation_p.P260S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P291S|DYSF_uc010fee.3_Missense_Mutation_p.P260S|DYSF_uc010fef.3_Missense_Mutation_p.P291S|DYSF_uc002sie.3_Missense_Mutation_p.P260S|DYSF_uc010feo.3_Missense_Mutation_p.P292S|DYSF_uc010fej.3_Missense_Mutation_p.P261S|DYSF_uc010fel.3_Missense_Mutation_p.P261S|DYSF_uc010fem.3_Missense_Mutation_p.P261S|DYSF_uc002sif.3_Missense_Mutation_p.P261S|DYSF_uc010fek.3_Missense_Mutation_p.P292S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	260	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGAAACAGCCCACTCTTCAA	0.597000														64			24		0	0	0.014323	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565494	69565494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:69565494C>T	uc001jnb.3	-	3	517	c.349G>A	c.(349-351)Gac>Aac	p.D117N	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	117					protein folding		heat shock protein binding|unfolded protein binding	p.S116C(1)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TGAGTCTTGTCAGATTCTTCC	0.368000														102			39		0	0	0.030466	0	0
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	T	T	rs150458536		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:24750779C>T	uc001mqs.3	+	1	401	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.R43C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	43						extracellular region		p.R43C(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACCATTCTTCGTCAGCTGAC	0.433000														22			15		0	0	0.024245	0	0
TRPM2	7226	broad.mit.edu	37	21	45784067	45784067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:45784067C>T	uc010gpt.1	+	2	425	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	TRPM2_uc002zet.1_Nonsense_Mutation_p.Q109*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.Q109*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.Q109*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	109						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCACACCTTCCAGGGCACACA	0.572000														44			27		0	0	0.024334	0	0
TSPAN18	90139	broad.mit.edu	37	11	44931324	44931324	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:44931324C>T	uc001myg.3	+	1	142	c.132C>T	c.(130-132)atC>atT	p.I44I	TSPAN18_uc001mye.4_Silent_p.I44I|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	44						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCCGGGAGATCGTGGCTGCCA	0.692000														43			24		0	0	0.024334	0	0
SLC12A6	9990	broad.mit.edu	37	15	34527391	34527391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:34527391C>T	uc001zhw.3	-	23	3516	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	SLC12A6_uc001zhv.3_Missense_Mutation_p.D1067N|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.D1103N|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.D1059N|SLC12A6_uc001zib.3_Missense_Mutation_p.D1109N|SLC12A6_uc001zic.3_Missense_Mutation_p.D1118N|SLC12A6_uc010bau.3_Missense_Mutation_p.D1118N|SLC12A6_uc001zid.3_Missense_Mutation_p.D1059N|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.D930N	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	1118					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CAGTTTTCATCACCCTCAGGG	0.428000														85			31		0	0	0.012213	0	0
ADAM22	53616	broad.mit.edu	37	7	87765295	87765295	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:87765295G>A	uc003ujn.3	+	14	1384	c.1169_splice	c.e14-1	p.G390_splice	ADAM22_uc003ujk.2_Splice_Site_p.G390_splice|ADAM22_uc003ujl.2_Splice_Site_p.G390_splice|ADAM22_uc003ujm.3_Splice_Site_p.G390_splice|ADAM22_uc003ujo.3_Splice_Site_p.G390_splice|ADAM22_uc003ujp.1_Splice_Site_p.G442_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	390	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCTCTTAGGTGAATGTAAA	0.368000														59			16		0	0	0.033300	0	0
TBX4	9496	broad.mit.edu	37	17	59557575	59557575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:59557575G>A	uc010ddo.3	+	7	1079	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TBX4_uc002izi.3_Missense_Mutation_p.E306K|TBX4_uc010woy.2_Missense_Mutation_p.E306K	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	306					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCAGCACGAGAACGGGGC	0.637000														86			31		0	0	0.012213	0	0
DGKI	9162	broad.mit.edu	37	7	137282634	137282635	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:137282634_137282635CT>TA	uc003vtt.3	-	11	1270_1271	c.1269_1270AG>TA	c.(1267-1272)aaagta>aaTAta	p.423_424KV>NI	DGKI_uc003vtu.3_Missense_Mutation_p.123_124KV>NI	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	423	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGATTTGGTACTTTCCTATACA	0.416000														37			8		0	0	0.004672	0	0
DCHS1	8642	broad.mit.edu	37	11	6654053	6654053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:6654053G>A	uc001mem.1	-	5	3091	c.2690C>T	c.(2689-2691)cCt>cTt	p.P897L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	897	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTGTCTTCAGGTGCAGGAAA	0.582000														18			7		0	0	0.029380	0	0
MLL2	8085	broad.mit.edu	37	19	36223175	36223175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36223175C>T	uc021usv.1	+	27	5725	c.5725C>T	c.(5725-5727)Ccc>Tcc	p.P1909S	MLL2_uc021usu.1_Missense_Mutation_p.P723S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	521					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTTCCCAGCTCCCCCCAGACG	0.652000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				8			5		0	0	0.021553	0	0
C15orf2	23742	broad.mit.edu	37	15	24922173	24922173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:24922173G>A	uc001ywo.3	+	0	1633	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	387	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.E387D(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGATAAAACAGAGACCATGAC	0.527000														35			8		0	0	0.003080	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:30973992G>A	uc021vfn.1	-	9	1245	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000														25			6		0	0	0.021553	0	0
KCND3	3752	broad.mit.edu	37	1	112524279	112524279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:112524279G>A	uc001ebu.1	-	1	1550	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	KCND3_uc001ebv.1_Missense_Mutation_p.S357L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	357						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTACCAAAACGAGGCAGGGAT	0.537000														24			24		0	0	0.016522	0	0
MUC16	94025	broad.mit.edu	37	19	9085375	9085375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9085375G>A	uc002mkp.3	-	0	6644	c.6440C>T	c.(6439-6441)cCa>cTa	p.P2147L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2146V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGCCATTGGAAGAGGGAC	0.488000														53			35		0	0	0.015359	0	0
RHOU	58480	broad.mit.edu	37	1	228879439	228879439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:228879439G>A	uc001htf.3	+	2	1395	c.729G>A	c.(727-729)atG>atA	p.M243I	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	243					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CAGATAAAATGAAAAACCTCT	0.443000														44			19		0	0	0.008871	0	0
ODZ2	57451	broad.mit.edu	37	5	167626002	167626002	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:167626002C>T	uc010jjd.3	+	15	3018	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	ODZ2_uc003lzr.4_Silent_p.S783S|ODZ2_uc003lzt.4_Silent_p.S379S|ODZ2_uc010jje.3_Silent_p.S277S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGGAGAACTCCATCCCCAGCT	0.582000														15			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9089206	9089206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9089206G>A	uc002mkp.3	-	0	2813	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	870	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGGATTCGAAGTTTCCTC	0.483000														37			14		0	0	0.020292	0	0
PTX4	390667	broad.mit.edu	37	16	1537732	1537732	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:1537732G>A	uc010uvf.2	-	1	366	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	127						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CGCCCAGGGTGAGGTCCAAGG	0.706000														60			21		0	0	0.010504	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087146	6087147	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:6087146_6087147CC>TT	uc010idb.1	-	4	1320	c.834_splice	c.e4+1	p.Q278_splice	JAKMIP1_uc010idc.1_Splice_Site_p.Q113_splice|JAKMIP1_uc010idd.1_Splice_Site_p.Q278_splice|JAKMIP1_uc003giu.4_Splice_Site_p.Q278_splice|JAKMIP1_uc011bwc.2_Splice_Site_p.Q113_splice|JAKMIP1_uc003giv.4_Splice_Site_p.Q278_splice|JAKMIP1_uc010ide.3_Splice_Site_p.Q278_splice	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	278	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCCCCTCACCTGGACGCCCA	0.609000														9			8		0	0	0.004672	0	0
PARS2	25973	broad.mit.edu	37	1	55223653	55223653	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:55223653G>A	uc021ont.1	-	0	1182	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	PARS2_uc001cxy.3_Silent_p.Y394Y	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	394					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGATGTGGTCGTACAGCTGCC	0.602000														111			4		0	0	0.009096	0	0
PADI2	11240	broad.mit.edu	37	1	17420166	17420166	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:17420166C>T	uc001baf.3	-	4	507	c.425G>A	c.(424-426)tGg>tAg	p.W142*	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Nonsense_Mutation_p.W142*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	142					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CTCGGGGCCCCAGGTCCAGGA	0.592000														55			23		0	0	0.012319	0	0
FREM2	341640	broad.mit.edu	37	13	39264487	39264487	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:39264487G>A	uc001uwv.3	+	0	3315	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1002					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCCAGCAGAGCAGTTTACTC	0.453000														57			46		0	0	0.014410	0	0
EPB41L1	2036	broad.mit.edu	37	20	34776268	34776268	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:34776268G>A	uc002xfb.3	+	9	1045	c.874_splice	c.e9-1	p.D292_splice	EPB41L1_uc002xeu.3_Splice_Site_p.D230_splice|EPB41L1_uc010zvo.1_Splice_Site_p.D292_splice|EPB41L1_uc002xev.3_Splice_Site_p.D292_splice|EPB41L1_uc002xew.3_Splice_Site_p.D195_splice|EPB41L1_uc002xex.3_Splice_Site_p.D261_splice|EPB41L1_uc002xey.3_Splice_Site_p.D219_splice|EPB41L1_uc002xez.3_Splice_Site_p.D230_splice	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	292	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TTCTCATGCAGGACTCTGAGG	0.592000														117			41		0	0	0.014410	0	0
TET3	200424	broad.mit.edu	37	2	74327599	74327599	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:74327599C>T	uc002skb.4	+	8	3279	c.3279C>T	c.(3277-3279)tcC>tcT	p.S1093S		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1093							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCAGCTCCTTCAAGTACA	0.597000														4			7		0	0	0.003080	0	0
VPS13D	55187	broad.mit.edu	37	1	12326959	12326959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:12326959C>T	uc001atv.3	+	13	1757	c.1616C>T	c.(1615-1617)tCt>tTt	p.S539F	VPS13D_uc001atw.3_Missense_Mutation_p.S539F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	539					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTAGCAGAGTCTCTTCCTCGA	0.358000														15			20		0	0	0.010504	0	0
NRG1	3084	broad.mit.edu	37	8	32617780	32617780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:32617780C>T	uc003xiv.2	+	10	1641	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	NRG1_uc022ats.1_Missense_Mutation_p.S325F|NRG1_uc011lbf.1_Missense_Mutation_p.S372F|NRG1_uc010lvo.2_Missense_Mutation_p.S372F|NRG1_uc003xiu.2_Missense_Mutation_p.S380F|NRG1_uc003xiw.2_Missense_Mutation_p.S372F|NRG1_uc003xit.2_Missense_Mutation_p.S375F|NRG1_uc010lvr.2_Missense_Mutation_p.S117F|NRG1_uc010lvs.2_Missense_Mutation_p.S117F|NRG1_uc010lvp.2_Missense_Mutation_p.S329F|NRG1_uc010lvq.2_Missense_Mutation_p.S305F|NRG1_uc011lbg.1_Missense_Mutation_p.S221F|NRG1_uc011lbh.1_Missense_Mutation_p.S218F|NRG1_uc003xja.2_Missense_Mutation_p.S186F	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	375					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGATGTCATCCGTAGAAAAC	0.527000														73			55		0	0	0.014410	0	0
ZNF786	136051	broad.mit.edu	37	7	148768588	148768588	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:148768588A>T	uc003wfh.2	-	3	1413	c.1276T>A	c.(1276-1278)Tcc>Acc	p.S426T	ZNF786_uc011kuk.1_Missense_Mutation_p.S389T|ZNF786_uc003wfi.2_Missense_Mutation_p.S340T	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCCTGCAGGAGAACGGTCTC	0.617000														43			8		0	0	0.004482	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147156	52147156	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:52147156G>A	uc002pxf.4	-	4	1008	c.888C>T	c.(886-888)tcC>tcT	p.S296S		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	296	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTGAGGTCTGGGAAGGATTGA	0.617000														55			22		0	0	0.014323	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325096	162325096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:162325096G>A	uc001gbv.2	+	6	1102	c.715G>A	c.(715-717)Gat>Aat	p.D239N	NOS1AP_uc010pkr.1_Missense_Mutation_p.D234N|NOS1AP_uc001gbw.2_Missense_Mutation_p.D234N|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	239					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGTGTGACTGATCTAGATGC	0.577000														91			27		0	0	0.009535	0	0
GALK2	2585	broad.mit.edu	37	15	49611928	49611928	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:49611928C>G	uc001zxj.1	+	8	1193	c.1095C>G	c.(1093-1095)aaC>aaG	p.N365K	GALK2_uc001zxi.1_Missense_Mutation_p.N354K|GALK2_uc010ufb.1_Missense_Mutation_p.N341K|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.N341K	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	365					galactose metabolic process	cytoplasm	ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AGTTGATGAACCAGAGCCACA	0.567000														40			7		0	0	0.003080	0	0
INPP5A	3632	broad.mit.edu	37	10	134595410	134595410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:134595410C>T	uc001llp.3	+	14	1452	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	INPP5A_uc001llq.3_Missense_Mutation_p.H297Y	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	402					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGTAAACCTCATGCCCATGT	0.577000														63			25		0	0	0.024334	0	0
ENTPD7	57089	broad.mit.edu	37	10	101439504	101439504	+	Silent	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:101439504T>C	uc009xwl.3	+	5	781	c.426T>C	c.(424-426)acT>acC	p.T142T	ENTPD7_uc001kqa.4_Silent_p.T140T	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	140						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TGGCAGACACTCCAGAACATG	0.443000														79			28		0	0	0.010818	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782228	34782228	+	Silent	SNP	G	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:34782228G>C	uc002xfb.3	+	11	1566	c.1395G>C	c.(1393-1395)cgG>cgC	p.R465R	EPB41L1_uc002xeu.3_Silent_p.R403R|EPB41L1_uc010zvo.1_Silent_p.R465R|EPB41L1_uc002xev.3_Silent_p.R465R|EPB41L1_uc002xew.3_Silent_p.R368R|EPB41L1_uc002xex.3_Silent_p.R434R|EPB41L1_uc002xey.3_Silent_p.R392R|EPB41L1_uc002xez.3_Silent_p.R403R	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	465					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGGGCAACGGTCAGAGGCTG	0.602000														31			7		0	0	0.004482	0	0
MLKL	197259	broad.mit.edu	37	16	74716619	74716619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:74716619C>T	uc002fdb.2	-	5	1327	c.886G>A	c.(886-888)Gat>Aat	p.D296N	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	296	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTTCCCTATCCAACAGCTCC	0.572000														56			21		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741427	140741427	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140741427C>T	uc003ljs.2	+	0	1725	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.F575F|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	576	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCTTCGATATGGTGC	0.657000														34			10		0	0	0.033300	0	0
KALRN	8997	broad.mit.edu	37	3	124196142	124196142	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:124196142C>T	uc003ehg.3	+	26	4273	c.4146C>T	c.(4144-4146)tcC>tcT	p.S1382S	KALRN_uc010hrv.1_Silent_p.S1373S|KALRN_uc003ehf.1_Silent_p.S1382S|KALRN_uc011bjy.1_Silent_p.S1373S|KALRN_uc003ehh.1_Silent_p.S728S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1382	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCTGATTCCAACCAGCTTA	0.403000														60			20		0	0	0.018920	0	0
ALDOB	229	broad.mit.edu	37	9	104189764	104189764	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:104189764C>T	uc004bbk.2	-	5	622	c.540_splice	c.e5+1	p.Q180_splice		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	180					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.Q180H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGCAGAGCACCTGCTGACAGA	0.512000														36			16		0	0	0.024245	0	0
ATXN1	6310	broad.mit.edu	37	6	16327062	16327062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:16327062C>T	uc003nbt.3	-	7	2451	c.1480G>A	c.(1480-1482)Gtc>Atc	p.V494I	ATXN1_uc010jpi.3_Missense_Mutation_p.V494I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	494	Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGCTGCCGACCGGGATGAGC	0.662000														143			59		0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10366440	10366440	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:10366440G>A	uc002gmn.3	-	9	982	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	291	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q291E(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACAGGATTTGATAAAATATG	0.373000														19			15		0	0	0.007413	0	0
ZNF79	7633	broad.mit.edu	37	9	130206806	130206806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:130206806C>T	uc004bqw.4	+	4	1241	c.827C>T	c.(826-828)cCc>cTc	p.P276L	ZNF79_uc011maf.2_Missense_Mutation_p.P252L|ZNF79_uc011mag.2_Missense_Mutation_p.P252L	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGAGAGAAGCCCTACAGATGC	0.532000														72			28		0	0	0.037714	0	0
OR52A5	390054	broad.mit.edu	37	11	5153503	5153503	+	Missense_Mutation	SNP	G	A	A	rs143161168		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5153503G>A	uc010qyx.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCACATAGCGATCCAGGGCC	0.468000														22			10		0	0	0.008291	0	0
BTN1A1	696	broad.mit.edu	37	6	26508969	26508969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:26508969G>A	uc003nif.4	+	6	1205	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	383	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGAAGAAAGGATTTGACCCC	0.552000														124			44		0	0	0.033182	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146619	156146619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:156146619C>T	uc001fnl.3	+	14	2296	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	SEMA4A_uc009wrq.3_Missense_Mutation_p.P706L|SEMA4A_uc001fnm.3_Missense_Mutation_p.P706L|SEMA4A_uc001fnn.3_Missense_Mutation_p.P574L|SEMA4A_uc001fno.3_Missense_Mutation_p.P706L	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	706					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GTGGCCTCCCCATTGAGAGCA	0.622000														51			24		0	0	0.018920	0	0
SEPT8	23176	broad.mit.edu	37	5	132101113	132101113	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:132101113T>G	uc003kxr.2	-	1	377	c.139A>C	c.(139-141)Atc>Ctc	p.I47L	SEPT8_uc003kxs.1_Missense_Mutation_p.I47L|SEPT8_uc003kxu.2_Missense_Mutation_p.I47L|SEPT8_uc011cxi.1_Missense_Mutation_p.I47L|SEPT8_uc003kxv.2_Missense_Mutation_p.I47L|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	47					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACACAGAGGATGTTGAAGCTG	0.647000														77			40		0	0	0.030466	0	0
IMPG1	3617	broad.mit.edu	37	6	76712660	76712660	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:76712660C>T	uc003pik.1	-	11	1396	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	422					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGCTCCGTCCACTGTCTCAA	0.433000														52			19		0	0	0.008871	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096183	41096183	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:41096183C>T	uc002oob.3	+	15	1672	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P	SHKBP1_uc002ooc.3_Silent_p.P516P|SHKBP1_uc010xvl.1_Silent_p.P464P|SHKBP1_uc002ooe.3_Silent_p.P378P|SHKBP1_uc010xvm.2_Silent_p.P321P|SHKBP1_uc010xvn.2_Silent_p.P419P|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	541						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCTCACCCACGACAGCCT	0.701000														15			4		0	0	0.014758	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869684	151869684	+	Missense_Mutation	SNP	G	A	A	rs140660790	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:151869684G>A	uc022chf.1	+	0	374	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	MAGEA6_uc004ffq.1_Missense_Mutation_p.R125Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R125Q	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	125	MAGE.						protein binding	p.R125*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGTATCGAGCCAGGGAG	0.532000														36			46		0	0	0.014410	0	0
GJB4	127534	broad.mit.edu	37	1	35227278	35227278	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:35227278G>A	uc001bxw.4	+	0	423	c.423G>A	c.(421-423)gtG>gtA	p.V141V	GJB4_uc001bxv.1_Silent_p.V141V	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	141					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGCCGCCGTGGATGCTGGCT	0.607000														63			19		0	0	0.008871	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664560	169664560	+	RNA	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:169664560G>A	uc011bpp.2	-	1		c.3243C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TATAGCTGGAGGGACCTCACT	0.512000														13			9		0	0	0.004482	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285683	248285683	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:248285683C>T	uc001idy.1	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TCTCCTGGATCCTGGGCTCTA	0.448000														110			55		0	0	0.014410	0	0
ATP10B	23120	broad.mit.edu	37	5	160113203	160113203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:160113203G>A	uc003lym.1	-	5	1200	c.353C>T	c.(352-354)aCc>aTc	p.T118I	ATP10B_uc003lyp.2_Missense_Mutation_p.T118I|ATP10B_uc011deg.1_Missense_Mutation_p.T162I|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	118					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTAACATGGTGATTTCTCT	0.473000														24			3		0	0	0.004672	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	T	T	rs149674795		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:11648297C>T	uc002gne.3	+	30	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_uc010coo.3_Missense_Mutation_p.P1393S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTCTTTCCCGCCCTGGA	0.557000														38			8		0	0	0.003080	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809496	48809496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:48809496C>T	uc002rwp.2	+	1	1838	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P575L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	575					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCCTGTCCCATCGCAGTGG	0.493000														99			36		0	0	0.017118	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856147	62856147	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:62856147G>A	uc002jey.2	-	10	4733	c.4117C>T	c.(4117-4119)Ctg>Ttg	p.L1373L	LRRC37A3_uc010wqg.1_Silent_p.L491L|LRRC37A3_uc002jex.1_Silent_p.L350L|LRRC37A3_uc010wqf.1_Silent_p.L411L|LRRC37A3_uc010dek.1_Silent_p.L379L|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1373						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GATACTTCCAGAAAAGGATTT	0.383000														56			29		0	0	0.027356	0	0
RNF139	11236	broad.mit.edu	37	8	125498977	125498977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:125498977G>A	uc003yrc.3	+	1	1430	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	363					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTAACTGCAGTCCTGCATTT	0.393000														228			67		0	0	0.014410	0	0
FBN3	84467	broad.mit.edu	37	19	8176006	8176006	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:8176006G>A	uc002mjf.3	-	31	4163	c.4146C>T	c.(4144-4146)ccC>ccT	p.P1382P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1382	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTACCCGCCGGGCGCATTGA	0.657000														38			18		0	0	0.033300	0	0
COQ9	57017	broad.mit.edu	37	16	57485015	57485015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:57485015C>T	uc002elq.3	+	1	218	c.137C>T	c.(136-138)tCt>tTt	p.S46F	COQ9_uc002elp.2_Missense_Mutation_p.S46F|COQ9_uc010vhn.2_Missense_Mutation_p.S46F|COQ9_uc010vho.2_Missense_Mutation_p.S46F|COQ9_uc010vhp.2_Missense_Mutation_p.S46F	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	46					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GGGCTAAGGTCTTCAGATGAG	0.542000														28			21		0	0	0.008871	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874432	36874432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:36874432G>A	uc002xhy.1	-	1	372	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	KIAA1755_uc002xhz.1_Missense_Mutation_p.R34C	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	34										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCAGGAGACGGAACACCTGA	0.622000														33			22		0	0	0.012319	0	0
CD300LF	146722	broad.mit.edu	37	17	72700740	72700740	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:72700740T>C	uc002jlg.3	-	1	362	c.259A>G	c.(259-261)Aaa>Gaa	p.K87E	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.K90E|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Missense_Mutation_p.K87E|CD300LF_uc002jli.3_Missense_Mutation_p.K90E|CD300LF_uc010wra.2_Missense_Mutation_p.K87E|CD300LF_uc002jlj.1_Missense_Mutation_p.K90E	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	87	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGCGGTTTTTCTGATTGTCC	0.493000														179			82		0	0	0.014410	0	0
CILP2	148113	broad.mit.edu	37	19	19656266	19656266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19656266G>A	uc002nmw.4	+	7	3015	c.2930G>A	c.(2929-2931)gGa>gAa	p.G977E	CILP2_uc002nmv.4_Missense_Mutation_p.G971E	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	971						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGCTCTACGGACTTCGGGAT	0.672000														21			16		0	0	0.028581	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933840	49933840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49933840G>A	uc002pnp.3	-	11	1791	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	SLC17A7_uc002pno.3_Missense_Mutation_p.S202F	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	540	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCCCCATAGGAGGGCGGGGG	0.652000														34			13		0	0	0.016723	0	0
UBR5	51366	broad.mit.edu	37	8	103338881	103338881	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:103338881G>C	uc003ykr.2	-	12	1947	c.1492C>G	c.(1492-1494)Cct>Gct	p.P498A	UBR5_uc003yks.2_Missense_Mutation_p.P498A	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	498					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACTAAAAGGAACTACACCC	0.328000														18			23		0	0	0.018920	0	0
NRXN3	9369	broad.mit.edu	37	14	80328179	80328179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:80328179G>A	uc001xun.3	+	16	3549	c.3058G>A	c.(3058-3060)Gtg>Atg	p.V1020M	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.V596M|NRXN3_uc010asw.3_Missense_Mutation_p.V418M|NRXN3_uc001xur.4_Missense_Mutation_p.V391M	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	596					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCCTATCAAGTGGACGAGAC	0.572000														24			11		0	0	0.013537	0	0
UBR5	51366	broad.mit.edu	37	8	103311078	103311078	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:103311078G>A	uc003ykr.2	-	24	3779	c.3324C>T	c.(3322-3324)gcC>gcT	p.A1108A	UBR5_uc003yks.2_Silent_p.A1108A	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1108					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTCTTACTTGGCAGAAAGAA	0.333000														30			10		0	0	0.010729	0	0
PRKDC	5591	broad.mit.edu	37	8	48869985	48869985	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:48869985T>A	uc003xqi.3	-	1	218	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	PRKDC_uc003xqj.3_Missense_Mutation_p.Q54L|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	54					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGATGTCTGTAATGCTGT	0.333000								Non-homologous end-joining						12			7		0	0	0.029380	0	0
DNAH5	1767	broad.mit.edu	37	5	13920681	13920681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:13920681C>T	uc003jfd.2	-	5	748	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	236	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCGTAGGTTCCTTTAGGGTT	0.353000									Kartagener syndrome					40			21		0	0	0.008871	0	0
DSP	1832	broad.mit.edu	37	6	7578716	7578716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:7578716G>A	uc003mxp.1	+	21	3284	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	DSP_uc003mxq.1_Missense_Mutation_p.R1002Q|DSP_uc021yle.1_Missense_Mutation_p.R1002Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1002	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTTCATGCTCGGTACATTGAA	0.343000														52			32		0	0	0.013726	0	0
SI	6476	broad.mit.edu	37	3	164709234	164709234	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:164709234T>A	uc003fei.3	-	43	5078	c.5015A>T	c.(5014-5016)cAa>cTa	p.Q1672L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1672	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTAAATGTTTGAAATTGTCC	0.418000										HNSCC(35;0.089)				35			11		0	0	0.010729	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659263	144659263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:144659263G>A	uc003yyo.4	-	4	678	c.653C>T	c.(652-654)tCc>tTc	p.S218F	NAPRT1_uc003yym.4_Missense_Mutation_p.S218F|NAPRT1_uc003yyn.4_Missense_Mutation_p.S218F|NAPRT1_uc011lkh.2_Missense_Mutation_p.S218F			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	218					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTGAAAAGGAAGTGACGAA	0.677000														37			26		0	0	0.027356	0	0
AMFR	267	broad.mit.edu	37	16	56397837	56397837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:56397837G>A	uc002eiy.3	-	12	1985	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	AMFR_uc002eix.3_Missense_Mutation_p.R228C	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	594					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACTCACTTGCGAGCTTGCTGG	0.542000														22			17		0	0	0.014323	0	0
FBN1	2200	broad.mit.edu	37	15	48782180	48782180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:48782180C>T	uc001zwx.2	-	24	3345	c.2950G>A	c.(2950-2952)Gtc>Atc	p.V984I		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	984	TB 5.		V -> I (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTGCCCCGACGGAGCAGCAG	0.602000														52			21		0	0	0.012319	0	0
RMND5B	64777	broad.mit.edu	37	5	177569981	177569981	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:177569981G>A	uc011dgf.2	+	1	549	c.537G>A	c.(535-537)gaG>gaA	p.E179E	RMND5B_uc003mim.3_Silent_p.E138E|RMND5B_uc003min.3_Silent_p.E138E|RMND5B_uc003mio.3_Silent_p.E125E|RMND5B_uc003miq.3_Silent_p.E78E	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	138	CTLH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCGAGGAGCTGTGCC	0.592000														41			10		0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73848683	73848683	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:73848683T>C	uc003xzb.3	+	2	1681	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	365					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCTACCAAGTTCACCAGTAT	0.423000														131			40		0	0	0.010771	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843733	160843733	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:160843733C>T	uc002ube.2	-	11	2183	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	PLA2R1_uc010zcp.2_Silent_p.E657E|PLA2R1_uc002ubf.3_Silent_p.E657E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	657					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGGCCATCTCTCTTCATACT	0.493000														35			24		0	0	0.018920	0	0
ANK1	286	broad.mit.edu	37	8	41655036	41655036	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:41655036G>A	uc003xok.3	-	0	105	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ANK1_uc003xoi.3_Silent_p.F7F|ANK1_uc003xoj.3_Silent_p.F7F|ANK1_uc003xol.3_Silent_p.F7F|ANK1_uc003xom.3_Intron	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	7	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACTTCGCGGAAGCCCACAG	0.687000														11			7		0	0	0.004482	0	0
CUL9	23113	broad.mit.edu	37	6	43167862	43167862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:43167862C>T	uc003ouk.3	+	13	3427	c.3352C>T	c.(3352-3354)Ctc>Ttc	p.L1118F	CUL9_uc003oul.3_Missense_Mutation_p.L1118F|CUL9_uc010jyk.3_Missense_Mutation_p.L270F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1118					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTATAGCAACCTCACCTCCAG	0.567000														45			16		0	0	0.007413	0	0
VPS29	51699	broad.mit.edu	37	12	110933831	110933831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:110933831C>T	uc001tqy.3	-	1	241	c.181G>A	c.(181-183)Gga>Aga	p.G61R	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.G65R|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	61					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAAGTCTCCTCTCACAATA	0.403000														39			15		0	0	0.028581	0	0
PHAX	51808	broad.mit.edu	37	5	125939782	125939782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:125939782G>A	uc003kua.2	+	1	665	c.617G>A	c.(616-618)aGg>aAg	p.R206K		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	206	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GTCAAAGACAGGCTAGGGAAC	0.418000														10			9		0	0	0.008291	0	0
NMNAT3	349565	broad.mit.edu	37	3	139279987	139279987	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:139279987G>A	uc003etj.3	-	3	664	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NMNAT3_uc010hul.3_Silent_p.A119A|NMNAT3_uc003etk.3_Silent_p.A171A|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	208					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CTTGGCCCAAGGCTCGCCTGA	0.542000														70			35		0	0	0.013726	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22615839	22615839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:22615839C>T	uc009xkg.3	+	6	597	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.R45C	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	45	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										GTGTATTGTTCGTTACCTGGA	0.363000														120			63		0	0	0.014410	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996243	143996243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:143996243G>A	uc003yxk.1	-	3	680	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	226					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	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)	GACCTCCAGGGCATGGAGGAA	0.597000									Familial Hyperaldosteronism type I					77			19		0	0	0.012319	0	0
PRTG	283659	broad.mit.edu	37	15	55930812	55930812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:55930812C>T	uc002adg.3	-	13	2435	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	796	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACATGTAATCGAACGGCAAA	0.393000														22			13		0	0	0.024245	0	0
CUX1	1523	broad.mit.edu	37	7	101877387	101877387	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:101877387C>T	uc003uys.4	+	21	3649	c.3522C>T	c.(3520-3522)gaC>gaT	p.D1174D	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.D1163D	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1163					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGTCTCTGACCTCCTTGCCC	0.557000														57			50		0	0	0.014410	0	0
DDR1	780	broad.mit.edu	37	6	30862335	30862335	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:30862335G>T	uc003nrv.3	+	9	1442	c.1400G>T	c.(1399-1401)gGg>gTg	p.G467V	DDR1_uc010jse.3_Missense_Mutation_p.G467V|DDR1_uc003nrq.3_Missense_Mutation_p.G467V|DDR1_uc003nrr.3_Missense_Mutation_p.G467V|DDR1_uc003nrs.3_Missense_Mutation_p.G467V|DDR1_uc003nrt.3_Missense_Mutation_p.G467V|DDR1_uc011dms.2_Missense_Mutation_p.G485V|DDR1_uc003nru.3_Missense_Mutation_p.G467V|DDR1_uc003nry.2_Missense_Mutation_p.G467V|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	467					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTGTCCCTGGGGACACTATC	0.627000														113			4		3.59834e-05	3.66717e-05	0.021553	1	0
LIMK2	3985	broad.mit.edu	37	22	31674412	31674412	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:31674412G>A	uc003akh.3	+	15	2047	c.1902G>A	c.(1900-1902)cgG>cgA	p.R634R	LIMK2_uc003aki.3_Silent_p.R388R|LIMK2_uc003akk.3_Silent_p.R613R|LIMK2_uc011aln.2_Silent_p.R551R	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	634						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.R634L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCCTGACCCGGGACTCACCTC	0.667000														69			44		0	0	0.036044	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696889	205696889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205696889G>A	uc001hdb.3	-	2	383	c.112C>T	c.(112-114)Cga>Tga	p.R38*		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	38						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGAGATGATCGAATTTTCTTA	0.363000														41			10		0	0	0.010729	0	0
SHANK2	22941	broad.mit.edu	37	11	70332254	70332254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:70332254C>T	uc001oqc.3	-	20	4058	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K	SHANK2_uc010rqn.2_Missense_Mutation_p.E792K|SHANK2_uc001opz.3_Missense_Mutation_p.E787K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1003					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCGCCTCTTCCATGGAGCCC	0.587000														22			20		0	0	0.010504	0	0
COL11A1	1301	broad.mit.edu	37	1	103356019	103356019	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:103356019G>A	uc001dum.3	-	57	4698	c.4380C>T	c.(4378-4380)tcC>tcT	p.S1460S	COL11A1_uc001duk.3_Silent_p.S644S|COL11A1_uc001dul.3_Silent_p.S1448S|COL11A1_uc001dun.3_Silent_p.S1409S|COL11A1_uc009weh.3_Silent_p.S1332S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1448	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCACCCTTGGAGCCAGGGT	0.338000														10			5		0	0	0.021553	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481351	142481351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142481351C>T	uc011ksq.2	+	2	508	c.425C>T	c.(424-426)tCc>tTc	p.S142F	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGCCTTATCTCCGGCTGGGGC	0.562000														8			15		0	0	0.020292	0	0
KPNA2	3838	broad.mit.edu	37	17	66039321	66039321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:66039321C>T	uc002jgk.3	+	6	904	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	KPNA2_uc002jgl.3_Missense_Mutation_p.R258W	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	258					DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCTTAGTTCGGCTCCTGCA	0.453000														171			103		0	0	0.014410	0	0
MED12L	116931	broad.mit.edu	37	3	151148112	151148112	+	Missense_Mutation	SNP	C	T	T	rs147600909	by1000genomes	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:151148112C>T	uc003eyp.3	+	41	6458	c.6329C>T	c.(6328-6330)aCc>aTc	p.T2110I	MED12L_uc011bnz.2_Missense_Mutation_p.T1774I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2110	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCAGCAGACCCAGCAGCAG	0.542000														76			21		0	0	0.018920	0	0
NEK10	152110	broad.mit.edu	37	3	27183064	27183064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:27183064C>T	uc010hfk.3	-	11	1215	c.986G>A	c.(985-987)gGa>gAa	p.G329E	NEK10_uc010hfj.3_Missense_Mutation_p.G272E			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1017							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CACAGCAATTCCTGCTGATGC	0.343000														51			35		0	0	0.017118	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272679	139272679	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:139272679G>A	uc004chh.3	-	20	3609	c.3600C>T	c.(3598-3600)ccC>ccT	p.P1200P		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1200	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGACCAAGGGGGTTCTGCTT	0.682000														22			6		0	0	0.029380	0	0
WNT5B	81029	broad.mit.edu	37	12	1748983	1748983	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:1748983G>A	uc009zdq.3	+	3	704	c.462G>A	c.(460-462)cgG>cgA	p.R154R	WNT5B_uc001qjj.3_Silent_p.R154R|WNT5B_uc001qjk.3_Silent_p.R154R|WNT5B_uc001qjl.3_Silent_p.R154R	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	154					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACCTGCCCCGGGACTGGCTGT	0.701000														40			19		0	0	0.008871	0	0
ZFHX3	463	broad.mit.edu	37	16	72991912	72991913	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:72991912_72991913GG>AA	uc002fck.3	-	1	2805_2806	c.2132_2133CC>TT	c.(2131-2133)ccc>cTT	p.P711L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	711					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGCCAGCCGGGGGTGGGGCTG	0.579000														95			37		0	0	0.004672	0	0
TEAD2	8463	broad.mit.edu	37	19	49846519	49846519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49846519G>A	uc002pnh.3	-	10	1164	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Missense_Mutation_p.S352F|TEAD2_uc002pni.3_Missense_Mutation_p.S352F|TEAD2_uc002pnj.3_Missense_Mutation_p.S349F|TEAD2_uc010yao.2_Missense_Mutation_p.S221F|TEAD2_uc010emw.3_Missense_Mutation_p.S352F	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	349	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q353H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTTGCCAAAAGAGCAGACCTT	0.597000														45			25		0	0	0.016522	0	0
TGM3	7053	broad.mit.edu	37	20	2315889	2315889	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:2315889C>T	uc002wfx.4	+	10	1867	c.1770C>T	c.(1768-1770)atC>atT	p.I590I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	590					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D589V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCGGGACATCATCCTGGACA	0.602000														59			22		0	0	0.016522	0	0
NUDT4	11163	broad.mit.edu	37	12	93793086	93793086	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:93793086C>T	uc010sup.2	+	4	875	c.477C>T	c.(475-477)tcC>tcT	p.S159S	NUDT4_uc001tcm.3_Silent_p.S158S|NUDT4_uc001tcn.3_Silent_p.S106S|NUDT4_uc010suq.2_Silent_p.S107S|NUDT4_uc001tco.3_Silent_p.S106S	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	158					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CAGTCCCTTCCCTTCCGGATA	0.473000														227			22		0	0	0.024334	0	0
BCR	613	broad.mit.edu	37	22	23653911	23653911	+	Silent	SNP	C	T	T	rs141798488	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:23653911C>T	uc002zww.3	+	18	3806	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	BCR_uc002zwx.3_Silent_p.I1026I|BCR_uc011aiy.2_Silent_p.I659I	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1070	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCCCTACATCGTGCGCCAGT	0.617000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									15			10		0	0	0.008291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879284	144879284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:144879284G>A	uc021ouh.1	-	26	4468	c.4166C>T	c.(4165-4167)tCg>tTg	p.S1389L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1389L|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1345L|PDE4DIP_uc001elv.4_Missense_Mutation_p.S396L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1389					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1389S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGACTAGACGAATAATCACT	0.517000			T	PDGFRB	MPD									272			36		0	0	0.019004	0	0
SCAND3	114821	broad.mit.edu	37	6	28542450	28542450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:28542450G>A	uc003nlo.3	-	2	2650	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	678					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGTGAAAATGGTGTCCCTGAT	0.403000														110			47		0	0	0.014410	0	0
ERN2	10595	broad.mit.edu	37	16	23716268	23716268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23716268G>A	uc002dma.4	-	7	1103	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ERN2_uc010bxp.3_Nonsense_Mutation_p.R312*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R120*	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	264					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGCAGTCGGATGTGGCCC	0.677000														70			36		0	0	0.015359	0	0
CLCN1	1180	broad.mit.edu	37	7	143036388	143036389	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:143036388_143036389GG>AA	uc003wcr.1	+	12	1531_1532	c.1444_1445GG>AA	c.(1444-1446)gga>AAa	p.G482K	CLCN1_uc011ktc.1_Missense_Mutation_p.G94K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	482			G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CATACCCTGCGGAGGCTTCATG	0.505000														201			53		0	0	0.004672	0	0
C1orf109	54955	broad.mit.edu	37	1	38155520	38155520	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:38155520C>T	uc010oig.2	-	1	327	c.222G>A	c.(220-222)caG>caA	p.Q74Q	C1orf109_uc001cbo.3_Silent_p.Q73Q|C1orf109_uc001cbp.3_Silent_p.Q11Q|C1orf109_uc001cbq.1_Silent_p.Q11Q|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA.	11										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				TCAGCGCCTCCTGCACGGCAA	0.597000														42			5		0	0	0.021553	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307590	46307590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:46307590C>T	uc002pdm.3	-	2	1744	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	RSPH6A_uc002pdl.3_Missense_Mutation_p.D261N	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	525	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCCTCGAAGTCCGGGTTCTCC	0.657000														41			24		0	0	0.018920	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224037	23224037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23224037G>A	uc002dlm.1	+	8	1472	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	445					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTTTGTCCAGGAAGAGCTGGG	0.587000														71			16		0	0	0.033300	0	0
NHSL2	340527	broad.mit.edu	37	X	71360111	71360111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:71360111C>T	uc011mqa.2	+	5	2713	c.2713C>T	c.(2713-2715)Ccc>Tcc	p.P905S	NHSL2_uc004eak.1_Missense_Mutation_p.P539S|NHSL2_uc010nli.2_Missense_Mutation_p.P674S	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	905										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTTGGCTATGCCCCCCAGGAG	0.577000														35			3		0	0	0.004672	0	0
COPE	11316	broad.mit.edu	37	19	19016389	19016389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19016389C>T	uc002nkk.3	-	4	535	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	COPE_uc002nkl.3_Missense_Mutation_p.A114T|COPE_uc002nkm.3_Missense_Mutation_p.A165T	NM_007263	NP_009194	O14579	COPE_HUMAN	Homo sapiens coatomer protein complex, subunit epsilon (COPE), transcript variant 1, mRNA.	165					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GCTCACCGGGCGAGGTCCAGG	0.662000														36			14		0	0	0.020292	0	0
POLR3K	51728	broad.mit.edu	37	16	101619	101619	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:101619C>T	uc002cfi.2	-	1	184	c.138G>A	c.(136-138)ctG>ctA	p.L46L	SNRNP25_uc002cfj.4_5'Flank	NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA.	46					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACTTCTTTCAGTTTTGGGT	0.438000														39			20		0	0	0.014323	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477172	123477172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:123477172G>A	uc001uej.1	-	14	2477	c.2278C>T	c.(2278-2280)Cac>Tac	p.H760Y	PITPNM2_uc001uek.1_Missense_Mutation_p.H760Y	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	760	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCGCGGGGTGGAAGAGGTTG	0.682000														122			35		0	0	0.021022	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976626	34976626	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:34976626G>C	uc003zvq.3	+	4	916	c.738G>C	c.(736-738)gaG>gaC	p.E246D	KIAA1045_uc003zvr.3_Missense_Mutation_p.E246D	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	246							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCAAGAAGAGCAGGCGGCCC	0.612000														57			6		0	0	0.021553	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431982	117431982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:117431982G>A	uc003vjf.3	-	3	1360	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	423	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGCATAGGTGGAGCTTGCGA	0.517000														195			60		0	0	0.014410	0	0
ZNF880	400713	broad.mit.edu	37	19	52877582	52877582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:52877582C>T	uc002pzc.3	+	2	219	c.170C>T	c.(169-171)tCc>tTc	p.S57F	ZNF880_uc002pzb.4_Non-coding_Transcript|ZNF880_uc021uyu.1_Missense_Mutation_p.S57F	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	57	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGTGTTATCTCCATGTTGGAG	0.433000														13			8		0	0	0.004482	0	0
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:41301006C>T	uc002yyp.3	+	2	240	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	53	IQ.				central nervous system development	cytosol|nucleus		p.F53L(2)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TCAGAAAATTCCAGAAGAAGA	0.448000														36			9		0	0	0.004482	0	0
RUSC2	9853	broad.mit.edu	37	9	35561090	35561090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:35561090C>T	uc003zww.3	+	10	4600	c.4345C>T	c.(4345-4347)Ccg>Tcg	p.P1449S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P1449S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1449	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAGTCCTCCGTGGTAAGC	0.647000														19			15		0	0	0.020292	0	0
DENND2C	163259	broad.mit.edu	37	1	115137132	115137132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:115137132C>T	uc001efd.1	-	17	3095	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R741Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	798										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		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)		GATTTCATTTCGTTCTTCCAA	0.353000														49			26		0	0	0.027356	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554984	178554984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:178554984G>A	uc003mjw.3	-	16	2695	c.2593C>T	c.(2593-2595)Ccg>Tcg	p.P865S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	865	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P865L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGGAGCACGGAGACCACTTC	0.582000														67			28		0	0	0.009535	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334923	2334923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:2334923G>A	uc001lvy.1	+	4	531	c.394G>A	c.(394-396)Gag>Aag	p.E132K	TSPAN32_uc001lvx.1_Missense_Mutation_p.E191K|TSPAN32_uc009ydk.1_Missense_Mutation_p.E142K|TSPAN32_uc010qxk.2_Missense_Mutation_p.E167K|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.E102K|TSPAN32_uc001lwb.1_Missense_Mutation_p.E102K|TSPAN32_uc001lwc.1_Missense_Mutation_p.E77K|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	132					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGGTATATGAGCAGGCGAT	0.677000														10			5		0	0	0.014758	0	0
MGAM	8972	broad.mit.edu	37	7	141730492	141730492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:141730492G>A	uc003vwy.3	+	11	1459	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	469	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGCCCATATGACAGGGGTTC	0.468000														94			26		0	0	0.027356	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710360	71710360	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:71710360G>A	uc002fax.3	-	7	1467	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Silent_p.A487A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	487						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGTTGGAACTGGCATAGAGGG	0.502000														34			17		0	0	0.007413	0	0
HNF4A	3172	broad.mit.edu	37	20	43058205	43058205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:43058205G>A	uc002xma.3	+	9	1414	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	HNF4A_uc002xlu.3_Missense_Mutation_p.G410E|HNF4A_uc002xlv.3_Missense_Mutation_p.G420E|HNF4A_uc010ggq.3_Missense_Mutation_p.G435E|HNF4A_uc002xlz.3_Missense_Mutation_p.G432E	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	442					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGGCTCAGGGTCTGAGCCC	0.597000														328			139		0	0	0.014410	0	0
NRG2	9542	broad.mit.edu	37	5	139251407	139251407	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:139251407G>A	uc003lev.2	-	3	1241	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	NRG2_uc003lew.2_Silent_p.S337S|NRG2_uc003lex.2_Silent_p.S337S|NRG2_uc003ley.2_Silent_p.S337S|NRG2_uc021yed.1_Intron	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	337	Ser/Thr-rich.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCGACCAGGATGACAGGG	0.577000														39			19		0	0	0.007413	0	0
FAM71B	153745	broad.mit.edu	37	5	156590534	156590534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:156590534C>T	uc003lwn.3	-	1	842	c.742G>A	c.(742-744)Gct>Act	p.A248T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	248	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGAGAAGCCGCACTAGCC	0.582000														161			22		0	0	0.014323	0	0
ZHX2	22882	broad.mit.edu	37	8	123963790	123963790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:123963790C>T	uc022bag.1	+	0	40	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	ZHX2_uc003ypk.1_Missense_Mutation_p.R14W	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	14						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ATGCATGGTTCGGACATCACA	0.512000														32			13		0	0	0.013537	0	0
NOS2	4843	broad.mit.edu	37	17	26108131	26108131	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26108131G>A	uc002gzu.3	-	7	1059	c.795C>T	c.(793-795)atC>atT	p.I265I	NOS2_uc010crh.1_Silent_p.I265I|NOS2_uc010wab.1_Silent_p.I265I	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	265					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CAGCATAGCGGATGAGCTGAG	0.597000														53			34		0	0	0.017118	0	0
TSC2	7249	broad.mit.edu	37	16	2134315	2134315	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:2134315C>T	uc002con.3	+	33	4198	c.4092C>T	c.(4090-4092)tcC>tcT	p.S1364S	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.S1341S|TSC2_uc002coo.3_Silent_p.S1297S|TSC2_uc010uvv.2_Silent_p.S1261S|TSC2_uc010uvw.2_Silent_p.S1249S|TSC2_uc002cop.3_Silent_p.S1120S|TSC2_uc002coq.3_Silent_p.S139S	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1364					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGTCGTCTCCTCGGAGGGTG	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					34			13		0	0	0.028581	0	0
ZNF683	257101	broad.mit.edu	37	1	26691525	26691525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:26691525G>A	uc001bmg.1	-	3	630	c.512C>T	c.(511-513)gCt>gTt	p.A171V	ZNF683_uc001bmh.1_Missense_Mutation_p.A171V|ZNF683_uc009vsj.1_Missense_Mutation_p.A171V	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGAAAGCCAAGGGGCT	0.617000														13			14		0	0	0.024245	0	0
ARIH2	10425	broad.mit.edu	37	3	49002404	49002404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:49002404C>T	uc003cvb.3	+	4	688	c.376C>T	c.(376-378)Cca>Tca	p.P126S	ARIH2_uc003cvc.3_Missense_Mutation_p.P126S|ARIH2_uc003cvf.3_Missense_Mutation_p.P44S|ARIH2_uc010hkl.3_Missense_Mutation_p.P126S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	126					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P126A(2)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCAGCCTAATCCATCAAAACA	0.398000														42			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179568880	179568880	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179568880T>A	uc021vsy.1	-	102	26710	c.26485A>T	c.(26485-26487)Atc>Ttc	p.I8829F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5490F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9756	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACCTTCGATTCTGAGTTCT	0.473000														143			13		0	0	0.028581	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016238	22016238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:22016238G>A	uc010tzk.1	-	0	641	c.479C>T	c.(478-480)tCa>tTa	p.S160L						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		TGCTAACCATGAAGTGGGCAT	0.378000														30			5		0	0	0.004482	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566652	20566652	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:20566652T>A	uc002dhj.4	-	4	745	c.535A>T	c.(535-537)Att>Ttt	p.I179F	ACSM2B_uc002dhk.4_Missense_Mutation_p.I179F|ACSM2B_uc010bwf.1_Missense_Mutation_p.I179F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	179					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTAGCTTAATTCTCAGAGAA	0.433000														127			65		0	0	0.014410	0	0
ARAP2	116984	broad.mit.edu	37	4	36122870	36122870	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:36122870C>T	uc003gsq.2	-	22	4163	c.3825G>A	c.(3823-3825)acG>acA	p.T1275T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1275	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGTCCCTTCGTTTGAAACA	0.338000														21			5		0	0	0.014758	0	0
ARL9	132946	broad.mit.edu	37	4	57389959	57389959	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:57389959C>T	uc003hby.1	+	3	737	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	161							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TGGAACCTACCTGACTAAGAA	0.468000														19			14		0	0	0.016723	0	0
KCNB2	9312	broad.mit.edu	37	8	73850264	73850264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:73850264C>T	uc003xzb.3	+	2	3262	c.2674C>T	c.(2674-2676)Cca>Tca	p.P892S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	892					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTGTTTGCCCCAGAAATTCA	0.413000														72			14		0	0	0.020292	0	0
DNAH10	196385	broad.mit.edu	37	12	124330546	124330546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:124330546G>A	uc001uft.4	+	30	5330	c.5305G>A	c.(5305-5307)Gaa>Aaa	p.E1769K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1769	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTTGACTGGGAAAGTCAGTT	0.557000														121			41		0	0	0.011902	0	0
MYO1G	64005	broad.mit.edu	37	7	45007302	45007302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45007302C>T	uc003tmh.2	-	13	1828	c.1684G>A	c.(1684-1686)Ggg>Agg	p.G562R	MYO1G_uc003tmg.2_Missense_Mutation_p.G324R|MYO1G_uc010kym.2_Missense_Mutation_p.G447R|MYO1G_uc003tmi.1_Missense_Mutation_p.G474R	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	562	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTGCTGCCCGTCCGGCCAC	0.642000														93			25		0	0	0.024334	0	0
NR0B2	8431	broad.mit.edu	37	1	27239984	27239984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:27239984G>A	uc001bnf.3	-	0	584	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	150	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGACAGCATTGAAGCCACTGC	0.597000														23			55		0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181702639	181702639	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:181702639C>T	uc009wxt.3	+	20	3210	c.3015C>T	c.(3013-3015)ccC>ccT	p.P1005P	CACNA1E_uc001gow.3_Silent_p.P1005P|CACNA1E_uc009wxs.3_Silent_p.P986P|CACNA1E_uc001gox.1_Silent_p.P231P	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1005					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGACACCCCCCTAGTCCTGC	0.622000														40			14		0	0	0.024245	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542123	40542123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:40542123G>A	uc002omu.3	-	4	708	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H67Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAAATTTCTGA	0.373000														39			11		0	0	0.013537	0	0
METAP1D	254042	broad.mit.edu	37	2	172928456	172928456	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:172928456C>T	uc002uhk.3	+	2	289	c.216C>T	c.(214-216)gaC>gaT	p.D72D	METAP1D_uc010zdw.2_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	72					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AGAAGCCAGACTATGTGACGA	0.478000														14			7		0	0	0.003080	0	0
CDH10	1008	broad.mit.edu	37	5	24593395	24593395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:24593395C>T	uc003jgr.2	-	1	711	c.205G>A	c.(205-207)Gga>Aga	p.G69R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAATCAGATCCTGTATATTCT	0.338000										HNSCC(23;0.051)				63			5		0	0	0.029380	0	0
PORCN	64840	broad.mit.edu	37	X	48371041	48371041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:48371041C>T	uc010nie.1	+	5	778	c.620C>T	c.(619-621)tCc>tTc	p.S207F	PORCN_uc004djr.1_Missense_Mutation_p.S207F|PORCN_uc004djs.1_Missense_Mutation_p.S207F|PORCN_uc011mlx.1_Missense_Mutation_p.S136F|PORCN_uc004dju.1_Missense_Mutation_p.S76F|PORCN_uc004djv.1_Missense_Mutation_p.S207F|PORCN_uc004djw.1_Missense_Mutation_p.S207F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	207					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGTGCTGTCCACTTGCGTG	0.642000														5			22		0	0	0.021523	0	0
ZNF462	58499	broad.mit.edu	37	9	109688243	109688243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:109688243C>T	uc004bcz.3	+	2	2339	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P532S|ZNF462_uc004bda.3_Missense_Mutation_p.P532S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	684					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAATGACTTTCCTCTAGATTT	0.438000														152			78		0	0	0.014410	0	0
EHHADH	1962	broad.mit.edu	37	3	184910290	184910290	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:184910290G>A	uc003fpf.3	-	6	1972	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	EHHADH_uc011brs.2_Silent_p.F536F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	632						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCAAGATACGGAATGCTTCAT	0.458000														67			35		0	0	0.017118	0	0
TPTE	7179	broad.mit.edu	37	21	10914408	10914408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:10914408C>T	uc002yip.1	-	20	1679	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.M419I|TPTE_uc002yir.1_Missense_Mutation_p.M399I|TPTE_uc010gkv.1_Missense_Mutation_p.M299I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	437	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L436H(2)|p.L436I(1)|p.M419I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTTTCTCCATTTCTATTT	0.318000														48			4		0	0	0.009096	0	0
CNTD1	124817	broad.mit.edu	37	17	40951250	40951250	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:40951250C>T	uc002ibm.4	+	0	397	c.165C>T	c.(163-165)atC>atT	p.I55I	CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.3_5'Flank|CNTD1_uc010wha.2_Intron	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	55	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCCCCAGATCGTGGGTGCGG	0.602000														16			5		0	0	0.014758	0	0
ERCC6	2074	broad.mit.edu	37	10	50740971	50740971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50740971C>T	uc001jhs.4	-	1	194	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ERCC6_uc009xoe.3_Missense_Mutation_p.E14K|ERCC6_uc001jhu.3_Missense_Mutation_p.E14K	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	14					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGTCTTGCTCCTGAGTTTGA	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)						36			12		0	0	0.010729	0	0
HCN1	348980	broad.mit.edu	37	5	45645406	45645406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:45645406C>T	uc003jok.3	-	1	755	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	244						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTTCAGAATCCATTCCTTTT	0.353000														17			3		0	0	0.004672	0	0
ABCA1	19	broad.mit.edu	37	9	107599324	107599324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:107599324C>T	uc004bcl.3	-	10	1652	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	416					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.W416*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGAGTTCCTCCCACATGCCTT	0.547000														28			16		0	0	0.033300	0	0
DYTN	391475	broad.mit.edu	37	2	207558009	207558010	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:207558009_207558010GG>AA	uc002vbr.1	-	8	986_987	c.869_870CC>TT	c.(868-870)acc>aTT	p.T290I		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	290						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCTGAGGGTCCTGAAGAG	0.490000														43			5		0	0	0.004672	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375956	42375956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:42375956C>T	uc001zox.3	-	6	588	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	165					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGATGCACATCCAGGCATGAC	0.607000														121			50		0	0	0.014410	0	0
C12orf63	374467	broad.mit.edu	37	12	97136274	97136274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:97136274G>A	uc021rcc.1	+	18	2482	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	802										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAATGCCCGAGAATATTTCAA	0.353000														28			12		0	0	0.010729	0	0
KLHL4	56062	broad.mit.edu	37	X	86868978	86868978	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:86868978A>G	uc004efa.2	+	1	703	c.521A>G	c.(520-522)aAc>aGc	p.N174S	KLHL4_uc004efb.2_Missense_Mutation_p.N174S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	174						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAATGGAGAACTACTTGAAA	0.403000														7			22		0	0	0.012319	0	0
HBD	3045	broad.mit.edu	37	11	5255394	5255394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5255394C>T	uc001maf.1	-	1	337	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	48			D -> V (in Parkville; dbSNP:rs34977235).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGACAGATCCCCAAAGGAC	0.522000														35			31		0	0	0.021022	0	0
HLA-G	3135	broad.mit.edu	37	6	29795861	29795861	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:29795861C>T	uc003nnw.2	+	2	289	c.111C>T	c.(109-111)tcC>tcT	p.S37S	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Silent_p.S9S|HLA-G_uc003raj.3_Silent_p.S42S|HLA-G_uc003nnz.3_Silent_p.S37S|HLA-G_uc010jrn.2_Silent_p.S37S|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Silent_p.S37S|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	37	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGCCGTGTCCCGGCCCGGCC	0.716000														19			6		0	0	0.029380	0	0
DST	667	broad.mit.edu	37	6	56513381	56513381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:56513381G>A	uc021zay.1	-	9	1154	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	DST_uc011dxl.1_Missense_Mutation_p.P332L|DST_uc021zaz.1_Missense_Mutation_p.P303L|DST_uc003pde.2_Missense_Mutation_p.P419L	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	303					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGTTCTACAGGATTATTAGG	0.338000														9			8		0	0	0.004482	0	0
FGFR2	2263	broad.mit.edu	37	10	123274775	123274775	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:123274775G>A	uc021pzz.1	-	8	1790	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	FGFR2_uc021pzv.1_Silent_p.Y269Y|FGFR2_uc021pzw.1_Silent_p.Y266Y|FGFR2_uc021pzx.1_Silent_p.Y292Y|FGFR2_uc021pzy.1_Silent_p.Y382Y|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Silent_p.Y266Y|FGFR2_uc021qaa.1_Silent_p.Y382Y|FGFR2_uc021qab.1_Silent_p.Y293Y|FGFR2_uc021qac.1_Silent_p.Y312Y|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc001lfg.4_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	381					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.I380V(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCCCTATGCAGTAAATGGCTA	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					73			33		0	0	0.023175	0	0
ADCY1	107	broad.mit.edu	37	7	45743040	45743040	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:45743040C>T	uc003tne.4	+	14	2538	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	840					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTTCAACCTCCTGCCGGCCC	0.607000														83			22		0	0	0.012319	0	0
CCDC153	283152	broad.mit.edu	37	11	119061485	119061485	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:119061485G>A	uc010rze.2	-	5	628	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	138										lung(3)|stomach(1)	4						CCAGGGCCTGGTCCCGCTCTC	0.617000														35			40		0	0	0.023175	0	0
DSG1	1828	broad.mit.edu	37	18	28934899	28934899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:28934899C>T	uc002kwp.3	+	14	2952	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	DSG1_uc010xbp.2_Missense_Mutation_p.P273S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	914					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATCCATCATCCTAGAGAGTC	0.468000														123			61		0	0	0.014410	0	0
C10orf71	118461	broad.mit.edu	37	10	50532253	50532253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:50532253G>A	uc021pqb.1	+	0	1663	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	C10orf71_uc021pqa.1_Missense_Mutation_p.E554K|C10orf71_uc021pqc.1_Missense_Mutation_p.E555K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	555										endometrium(1)	1						CCCTCCAAATGAGCTTTCTAA	0.522000														38			14		0	0	0.024245	0	0
GATA2	2624	broad.mit.edu	37	3	128199922	128199922	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:128199922G>A	uc003ekm.3	-	6	1818	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	GATA2_uc003ekn.3_Silent_p.P447P|GATA2_uc003eko.2_Silent_p.P461P	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	461					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.H460P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCTGGAGGAGGGGTGGATGG	0.682000			Mis		AML(CML blast transformation)									33			18		0	0	0.033300	0	0
ZNF777	27153	broad.mit.edu	37	7	149152452	149152452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:149152452G>A	uc003wfv.3	-	1	825	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCGCAGTCGGCTATCTTCTT	0.612000														75			88		0	0	0.014410	0	0
ZNF683	257101	broad.mit.edu	37	1	26691531	26691531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:26691531G>A	uc001bmg.1	-	3	624	c.506C>T	c.(505-507)cCc>cTc	p.P169L	ZNF683_uc001bmh.1_Missense_Mutation_p.P169L|ZNF683_uc009vsj.1_Missense_Mutation_p.P169L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAAAGCCAAGGGGCTGGGGCT	0.602000														21			7		0	0	0.003080	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850123	83850123	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:83850123G>A	uc011dyy.2	+	23	5648	c.5388_splice	c.e23+1	p.K1796_splice	DOPEY1_uc003pjs.1_Splice_Site_p.K1805_splice|DOPEY1_uc010kbl.1_Splice_Site_p.K1796_splice|DOPEY1_uc003pjt.3_Splice_Site	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1805					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCTACAAAGGTTAGACAATT	0.378000														61			22		0	0	0.014323	0	0
MYO10	4651	broad.mit.edu	37	5	16764485	16764485	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:16764485G>A	uc003jft.4	-	11	1668	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	MYO10_uc010itx.3_Silent_p.S23S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	400	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCATGGCCAGGGAGTCCCTGC	0.552000														50			13		0	0	0.013537	0	0
MMP13	4322	broad.mit.edu	37	11	102819836	102819836	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:102819836C>T	uc001phl.3	-	6	998	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	323	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAATGATTTCGTTAAAAACA	0.423000														31			15		0	0	0.020292	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502848	140502848	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:140502848C>A	uc003lip.1	+	0	1268	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	423	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.V422I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCGCCGTCACTGACTTGGGG	0.517000														62			7		5.18039e-06	5.28869e-06	0.003080	1	0
CERS3	204219	broad.mit.edu	37	15	100943031	100943031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:100943031C>T	uc002bwa.3	-	13	1643	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CERS3_uc002bvz.3_Missense_Mutation_p.E347K|CERS3_uc002bwb.3_Missense_Mutation_p.E347K	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	347						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										tcctcttcctcttcATAATCC	0.468000														13			5		0	0	0.014758	0	0
ZNF12	7559	broad.mit.edu	37	7	6731942	6731942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:6731942G>A	uc003sqt.1	-	4	1185	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	ZNF12_uc011jxa.1_Missense_Mutation_p.R49C|ZNF12_uc003sqs.1_Missense_Mutation_p.R173C	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	211					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCCAAAATACGAATTTTCTGA	0.328000														32			10		0	0	0.008291	0	0
OVCH2	341277	broad.mit.edu	37	11	7722018	7722018	+	Silent	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:7722018A>T	uc010rbf.2	-	6	726	c.726T>A	c.(724-726)ggT>ggA	p.G242G		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGAGTGAACCTCCTGAAT	0.517000														6			3		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100696355	100696355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:100696355G>A	uc003uxp.1	+	9	13245	c.13192G>A	c.(13192-13194)Ggg>Agg	p.G4398R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4398						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G4398G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGTGGGGGCAGGGGTCGTGCT	0.592000														34			35		0	0	0.019004	0	0
SSPO	23145	broad.mit.edu	37	7	149526051	149526051	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:149526051G>A	uc010lpk.3	+	105	15081	c.15081G>A	c.(15079-15081)ggG>ggA	p.G5027G	SSPO_uc003wgh.2_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	5035	VWFC 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGCCAGGGAGCTGCTGTC	0.657000														15			13		0	0	0.024245	0	0
FAM131C	348487	broad.mit.edu	37	1	16390059	16390059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:16390059G>A	uc001axz.4	-	1	285	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	32										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCGGCCCGAGGGCAGATC	0.617000														58			21		0	0	0.012319	0	0
OR6C65	403282	broad.mit.edu	37	12	55795184	55795184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:55795184G>A	uc010spl.2	+	0	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R291K(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATACCTTAAGAAACCAGCAG	0.358000														36			12		0	0	0.020292	0	0
PTTG2	10744	broad.mit.edu	37	4	37962316	37962316	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:37962316C>T	uc011bye.2	+	0	261	c.261C>T	c.(259-261)agC>agT	p.S87S	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	87					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AACAGCCAAGCTTTTCTGCCA	0.418000														36			19		0	0	0.007413	0	0
OR10K1	391109	broad.mit.edu	37	1	158436236	158436236	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:158436236G>A	uc010pij.2	+	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGAGAAATAAGGAATTCAAAT	0.378000														48			17		0	0	0.006122	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160082	160082	+	RNA	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrGL000192.1:160082C>T	uc010yih.1	-	11		c.2340G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				gctcccgctccgcctcctccc	0.706000														2			3		0	0	0.004672	0	0
VWF	7450	broad.mit.edu	37	12	6103063	6103064	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:6103063_6103064CC>TG	uc001qnn.1	-	36	6812_6813	c.6562_6563GG>CA	c.(6562-6564)ggg>CAg	p.G2188Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2188					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AACGCAGACCCCGTTGGTCCGA	0.559000														65			13		0	0	0.004672	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345634	135345634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:135345634C>T	uc001lnj.1	+	3	527	c.494C>T	c.(493-495)cCt>cTt	p.P165L	CYP2E1_uc001lnk.1_Missense_Mutation_p.P28L|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	165					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTAGGCCAGCCTTTCGACCCC	0.557000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					71			25		0	0	0.034045	0	0
LARP1	23367	broad.mit.edu	37	5	154173503	154173503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:154173503C>T	uc003lvo.3	+	5	805	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	LARP1_uc021ygh.1_Missense_Mutation_p.R133C|LARP1_uc021ygi.1_Missense_Mutation_p.R338C|LARP1_uc010jie.1_Missense_Mutation_p.R133C	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	338							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTCCTTCCGTGGCCGTGG	0.682000														57			5		0	0	0.014758	0	0
CFTR	1080	broad.mit.edu	37	7	117230474	117230474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:117230474G>A	uc003vjd.3	+	12	1879	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	583	ABC transporter 1.				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|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTTTTAACAGAAAAAGAAAT	0.284000									Cystic Fibrosis					101			22		0	0	0.018920	0	0
ROS1	6098	broad.mit.edu	37	6	117686903	117686903	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:117686903C>T	uc003pxp.1	-	19	3012	c.2813_splice	c.e19-1	p.G938_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	938					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAAAAGTTCCCTACAGGAT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									10			5		0	0	0.014758	0	0
RIOK1	83732	broad.mit.edu	37	6	7403078	7403078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:7403078C>T	uc003mxn.3	+	7	889	c.715C>T	c.(715-717)Cct>Tct	p.P239S	RIOK1_uc003mxm.1_Missense_Mutation_p.P135S|RIOK1_uc003mxo.3_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	239	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TAAAGGAAACCCTAGGAAAAT	0.323000														20			8		0	0	0.004482	0	0
CCPG1	9236	broad.mit.edu	37	15	55652855	55652855	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:55652855C>T	uc010bfk.2	-	7	1415	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	CCPG1_uc002acy.3_Silent_p.R372R|CCPG1_uc002acu.2_Silent_p.R228R|CCPG1_uc002acz.2_Silent_p.R372R|CCPG1_uc002acw.2_Silent_p.R97R|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Silent_p.R372R|CCPG1_uc021smu.1_5'Flank	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	372					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ACAGAGTCTCCCTTTGACTAA	0.398000														69			25		0	0	0.018920	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880955	70880955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:70880955G>A	uc003tvy.3	+	3	670	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	224	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCAGAAGAGGGAAGGCCTGAT	0.562000														78			20		0	0	0.014323	0	0
PLCL2	23228	broad.mit.edu	37	3	17053049	17053049	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:17053049C>T	uc011awc.2	+	2	2283	c.2187C>T	c.(2185-2187)gtC>gtT	p.V729V	PLCL2_uc011awd.2_Silent_p.V611V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	737	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGAGGAGGTCTCCTTCTTCA	0.502000														52			17		0	0	0.008871	0	0
FCRL1	115350	broad.mit.edu	37	1	157771850	157771850	+	Silent	SNP	G	A	A	rs143378896		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:157771850G>A	uc001frg.3	-	4	854	c.741C>T	c.(739-741)atC>atT	p.I247I	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.I247I|FCRL1_uc001fri.3_Silent_p.I247I|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	247	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.I247I(6)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCCCAGGGTGATATCCTCGT	0.577000														54			21		0	0	0.010504	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:40958182G>A	uc003jmh.3	+	10	1422	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000														17			15		0	0	0.024245	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384048	136384048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:136384048C>T	uc011mdk.2	-	2	449	c.347G>A	c.(346-348)gGg>gAg	p.G116E		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	116						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CGAGTACACCCCGTAGCCCCA	0.617000														61			25		0	0	0.021523	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603144	111603144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:111603144C>T	uc010hqa.3	+	1	631	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PHLDB2_uc003dyc.3_Missense_Mutation_p.P101S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P74S|PHLDB2_uc003dye.4_Missense_Mutation_p.P74S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P74S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	74						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGCCCTTCTCCTTTGGGAAC	0.443000														154			69		0	0	0.014410	0	0
KCNK1	3775	broad.mit.edu	37	1	233807105	233807105	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:233807105C>T	uc010pxo.1	+	2	1008	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	280						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAAAAATGTTCTATGTGAAGA	0.458000														41			15		0	0	0.020292	0	0
FAR2	55711	broad.mit.edu	37	12	29460611	29460611	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:29460611T>G	uc001rit.3	+	4	834	c.566T>G	c.(565-567)aTt>aGt	p.I189S	FAR2_uc001ris.4_Missense_Mutation_p.I189S|FAR2_uc009zjm.3_Missense_Mutation_p.I92S|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	189					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GATGCTATTATTGACGAGATT	0.403000														73			27		0	0	0.010818	0	0
MYO15A	51168	broad.mit.edu	37	17	18046115	18046115	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:18046115C>T	uc021trm.1	+	23	6090	c.5871C>T	c.(5869-5871)tcC>tcT	p.S1957S	MYO15A_uc021trl.1_Silent_p.S1955S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1957	IQ 3.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGTTCCGGTCCCTGGTACACG	0.597000														7			3		0	0	0.014758	0	0
TNK1	8711	broad.mit.edu	37	17	7292014	7292014	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:7292014G>A	uc002ggi.4	+	10	2014	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	TNK1_uc002ggj.4_Silent_p.K589K|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	594					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGCAGAGGAAGATTATGGAGG	0.577000														28			13		0	0	0.020292	0	0
CYC1	1537	broad.mit.edu	37	8	145151057	145151058	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:145151057_145151058GG>AA	uc003zaz.4	+	2	400_401	c.357_358GG>AA	c.(355-360)caggtg>caAAtg	p.V120M	CYC1_uc003zay.3_Missense_Mutation_p.V61M	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	120	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TATATAAGCAGGTGTGCGCCTC	0.599000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		173			151		0	0	0.004672	0	0
DCAF11	80344	broad.mit.edu	37	14	24586912	24586912	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:24586912C>T	uc001wlv.3	+	4	727	c.447C>T	c.(445-447)tcC>tcT	p.S149S	NRL_uc001wlq.3_5'Flank|DCAF11_uc001wlw.3_Silent_p.S149S|DCAF11_uc001wlz.3_Intron|DCAF11_uc001wly.3_Silent_p.S105S|DCAF11_uc010tny.2_Silent_p.S16S|DCAF11_uc001wmc.3_Intron|DCAF11_uc001wmb.4_Silent_p.S123S|DCAF11_uc001wma.4_Silent_p.S149S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	149						CUL4 RING ubiquitin ligase complex	protein binding	p.S149S(1)									GAAGCTTCTCCCTTGGAGAAC	0.498000														64			42		0	0	0.011902	0	0
ZNF749	388567	broad.mit.edu	37	19	57956710	57956710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:57956710G>A	uc002qoq.2	+	2	2448	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ATGTGGGAAAGACTTCAACAA	0.393000														74			31		0	0	0.013726	0	0
PGLS	25796	broad.mit.edu	37	19	17628557	17628557	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:17628557G>A	uc002ngw.3	+	3	587	c.537G>A	c.(535-537)ccG>ccA	p.P179P		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	179						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						GTGACTCCCCGAAGCCACCGC	0.562000														60			22		0	0	0.014323	0	0
ROBO2	6092	broad.mit.edu	37	3	77656973	77656973	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:77656973A>T	uc011bgk.2	+	21	3816	c.3173A>T	c.(3172-3174)aAa>aTa	p.K1058I	ROBO2_uc021xat.1_Missense_Mutation_p.K1070I|ROBO2_uc003dpy.4_Missense_Mutation_p.K1054I|ROBO2_uc003dpz.3_Missense_Mutation_p.K1058I|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.K181I	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1054					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAAAAGAAGAAAAATAAAAAC	0.433000														35			11		0	0	0.010729	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521861	49521861	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:49521861C>T	uc001rtm.3	-	3	1457	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	TUBA1B_uc021qxn.1_Silent_p.G210G|TUBA1B_uc001rtl.3_Silent_p.G377G|TUBA1A_uc010smg.1_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	412					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CTTCCTCCATCCCCTCACCCA	0.552000														98			44		0	0	0.014410	0	0
PAX3	5077	broad.mit.edu	37	2	223161825	223161826	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:223161825_223161826GG>AA	uc010fwo.3	-	1	573_574	c.192_193CC>TT	c.(190-195)caccac>caTTac	p.H65Y	PAX3_uc002vmt.2_Missense_Mutation_p.H65Y|PAX3_uc002vmy.2_Missense_Mutation_p.H65Y|PAX3_uc002vmv.2_Missense_Mutation_p.H65Y|PAX3_uc002vmw.2_Missense_Mutation_p.H65Y|PAX3_uc002vmx.2_Missense_Mutation_p.H65Y|PAX3_uc002vmz.2_Missense_Mutation_p.H65Y|PAX3_uc002vna.2_Missense_Mutation_p.H65Y|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	65	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H65H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGATGCCGTGGTGGGCCATCT	0.658000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							15			5		0	0	0.004672	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395968	47395968	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:47395968T>A	uc001cqp.4	-	11	1430	c.1379A>T	c.(1378-1380)aAa>aTa	p.K460I		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	460					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCAAATTGTTTCCCGATGCA	0.582000														88			31		0	0	0.010818	0	0
MMP26	56547	broad.mit.edu	37	11	5010899	5010899	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:5010899C>T	uc001lzv.3	+	1	139	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	41					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCAATTTTTCCTGACCAAGAA	0.463000														11			9		0	0	0.008291	0	0
TSIX	9383	broad.mit.edu	37	X	73046482	73046482	+	RNA	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:73046482C>T	uc004ebn.2	+	0		c.34443C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTAGGGTTCTCATCTTGGGAT	0.428000														40			55		0	0	0.014410	0	0
LRP1	4035	broad.mit.edu	37	12	57577163	57577163	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:57577163C>T	uc001snd.3	+	35	6129	c.5663_splice	c.e35-1	p.G1888_splice		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1888					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCTTTCAGGCGTAGGTTCCT	0.507000											OREG0021938	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			24		0	0	0.030593	0	0
LRP1B	53353	broad.mit.edu	37	2	141460005	141460005	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:141460005G>A	uc002tvj.1	-	37	7113	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2047					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCATAGTCGATGGAGATGC	0.398000										TSP Lung(27;0.18)				46			16		0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179404146	179404146	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179404146C>T	uc021vsy.1	-	300	91167	c.90942G>A	c.(90940-90942)ttG>ttA	p.L30314L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L24009L|TTN_uc021vta.1_Silent_p.L23942L|TTN_uc021vtb.1_Silent_p.L23817L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31241	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAGATTTCAAGGGTTTGC	0.388000														26			22		0	0	0.014323	0	0
COX18	285521	broad.mit.edu	37	4	73923972	73923972	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:73923972G>A	uc011cbc.1	-	5	970	c.864C>T	c.(862-864)ttC>ttT	p.F288F	COX18_uc003hgm.1_Silent_p.F287F|COX18_uc003hgn.1_Silent_p.F136F|COX18_uc010iih.1_Silent_p.F287F	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	Homo sapiens COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX18), nuclear gene encoding mitochondrial protein, mRNA.	287					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	p.F287F(2)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGCCCACGAAGCTGGAGC	0.408000														23			12		0	0	0.016723	0	0
TNXB	7148	broad.mit.edu	37	6	32049920	32049920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:32049920C>T	uc003nzl.2	-	8	3831	c.3629G>A	c.(3628-3630)cGt>cAt	p.R1210H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1297	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACAAATGAACGCTCGGGCCC	0.577000														503			8		0	0	0.003080	0	0
LRRC30	339291	broad.mit.edu	37	18	7231816	7231816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:7231816C>T	uc010wzk.2	+	0	680	c.680C>T	c.(679-681)tCg>tTg	p.S227L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	227										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCCCGAGGTCGCTTTGCCTG	0.577000														51			24		0	0	0.018920	0	0
TMEM89	440955	broad.mit.edu	37	3	48658389	48658389	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:48658389G>A	uc011bbo.2	-	1	366	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	122						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACCCCACGGAGCAGGGTGT	0.612000														64			35		0	0	0.013726	0	0
PRSS1	5644	broad.mit.edu	37	7	142460305	142460305	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:142460305T>C	uc003wak.2	+	3	495	c.478T>C	c.(478-480)Tgc>Cgc	p.C160R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.C100R	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	160	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CGAGCTGCAGTGCCTGGATGC	0.522000														472			12		0	0	0.020292	0	0
AKAP1	8165	broad.mit.edu	37	17	55183373	55183373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:55183373C>T	uc010wnl.2	+	2	830	c.548C>T	c.(547-549)cCc>cTc	p.P183L	AKAP1_uc002iux.3_Missense_Mutation_p.P183L|AKAP1_uc021uak.1_Missense_Mutation_p.P183L|AKAP1_uc010dcm.3_Missense_Mutation_p.P183L|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	183					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCAGGCTACCCCGTAGTCCCC	0.577000														50			27		0	0	0.021523	0	0
BRCA2	675	broad.mit.edu	37	13	32907279	32907279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:32907279C>T	uc001uub.1	+	9	1891	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L	BRCA2_uc001uua.1_Missense_Mutation_p.P432L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	555					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.C554F(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCCTTATGTCCAAATTTAATT	0.378000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				34			26		0	0	0.027356	0	0
ELMO3	79767	broad.mit.edu	37	16	67233464	67233464	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:67233464C>T	uc002esa.3	+	1	289	c.246C>T	c.(244-246)ccC>ccT	p.P82P	ELMO3_uc002esb.3_Silent_p.P82P|ELMO3_uc002esc.3_5'UTR	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	29					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGCGAAGCCCCTGGCCGCTG	0.761000														33			15		0	0	0.006122	0	0
ABCA13	154664	broad.mit.edu	37	7	48392067	48392067	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:48392067C>T	uc003toq.2	+	30	10695	c.10671C>T	c.(10669-10671)ccC>ccT	p.P3557P	ABCA13_uc010kys.1_Silent_p.P631P|ABCA13_uc003tos.1_Silent_p.P383P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3557					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCCTTACCCCTGCCATACCA	0.557000														16			4		0	0	0.009096	0	0
NLRP1	22861	broad.mit.edu	37	17	5456793	5456793	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:5456793T>C	uc002gci.3	-	4	2996	c.2441A>G	c.(2440-2442)gAc>gGc	p.D814G	NLRP1_uc002gcg.1_Missense_Mutation_p.D814G|NLRP1_uc002gch.4_Missense_Mutation_p.D814G|NLRP1_uc002gck.3_Missense_Mutation_p.D814G|NLRP1_uc002gcj.3_Missense_Mutation_p.D814G|NLRP1_uc002gcl.3_Missense_Mutation_p.D814G|NLRP1_uc010clh.3_Missense_Mutation_p.D814G	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	814					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCACTTAGGTCCAGCTCCTT	0.567000														33			21		0	0	0.008871	0	0
CA10	56934	broad.mit.edu	37	17	49825170	49825170	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:49825170C>T	uc002itv.4	-	4	1042	c.306G>A	c.(304-306)ggG>ggA	p.G102G	CA10_uc002itw.4_Silent_p.G96G|CA10_uc002itx.4_Silent_p.G96G|CA10_uc002ity.4_Silent_p.G96G|CA10_uc002itz.2_Silent_p.G96G	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	96					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTACATGGTCCCACTGACCT	0.537000														48			19		0	0	0.012319	0	0
AMBRA1	55626	broad.mit.edu	37	11	46465037	46465038	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:46465037_46465038CC>TT	uc001ncv.2	-	14	2955	c.2641_splice	c.e14+1	p.A881_splice	AMBRA1_uc010rgt.1_Splice_Site_p.A444_splice|AMBRA1_uc009ylc.1_Splice_Site_p.A849_splice|AMBRA1_uc001ncu.1_Splice_Site_p.A788_splice|AMBRA1_uc010rgu.1_Splice_Site_p.A878_splice|AMBRA1_uc001ncw.2_Splice_Site_p.A759_splice|AMBRA1_uc001ncx.2_Splice_Site_p.A818_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	878					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTGACTTACCATTACTGATT	0.460000														15			6		0	0	0.004672	0	0
CALCB	797	broad.mit.edu	37	11	15098931	15098931	+	Silent	SNP	C	T	T	rs145827382	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:15098931C>T	uc001mlx.1	+	3	397	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CALCB_uc009ygr.1_Silent_p.F108F	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	108					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	p.F108F(2)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AGAGCAACTTCGTGCCCACCA	0.577000														29			13		0	0	0.016723	0	0
OR5K3	403277	broad.mit.edu	37	3	98110431	98110431	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:98110431T>A	uc011bgw.2	+	0	922	c.922T>A	c.(922-924)Ttt>Att	p.F308I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGAGAAAATTTTGTCACAT	0.269000														34			18		0	0	0.012319	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117331	117331	+	RNA	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrGL000205.1:117331G>A	uc002kgk.4	+	0		c.709G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGCCCATCCTGAAGGACCTGG	0.572000														60			4		0	0	0.009096	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839468	100839468	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:100839468C>T	uc003uyc.3	-	6	1038	c.871_splice	c.e6+1	p.V291_splice	MOGAT3_uc010lhr.3_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	291					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GGGCACTCACCCACAGTGGTG	0.667000														9			4		0	0	0.009096	0	0
ANK3	288	broad.mit.edu	37	10	61830627	61830627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:61830627C>T	uc001jky.3	-	36	10350	c.10012G>A	c.(10012-10014)Gaa>Aaa	p.E3338K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3338					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCGTCCACTTCCTTTAATTTG	0.403000														81			38		0	0	0.021022	0	0
FNDC7	163479	broad.mit.edu	37	1	109270661	109270661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:109270661C>T	uc001dvx.3	+	6	1343	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L	FNDC7_uc010ova.2_Missense_Mutation_p.S215L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	449	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGCAATATGTCATGTACTCCC	0.483000														69			50		0	0	0.014410	0	0
TNRC6C	57690	broad.mit.edu	37	17	76083169	76083169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:76083169C>T	uc002jud.2	+	13	4397	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	TNRC6C_uc002juf.2_Missense_Mutation_p.P1263L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1266					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTCCTTACCCTCTCGGTGAG	0.577000														104			49		0	0	0.014410	0	0
NLRP13	126204	broad.mit.edu	37	19	56424075	56424075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:56424075C>T	uc010ygg.2	-	4	1133	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	370	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTAAGATCTCTCACAAAC	0.453000														75			22		0	0	0.018920	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:141607771G>A	uc002tvj.1	-	28	5811	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)				48			12		0	0	0.010729	0	0
NUP107	57122	broad.mit.edu	37	12	69109417	69109417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:69109417C>T	uc001suf.3	+	11	1095	c.980C>T	c.(979-981)gCt>gTt	p.A327V	NUP107_uc001sug.3_Missense_Mutation_p.A174V|NUP107_uc010stj.2_Missense_Mutation_p.A298V	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	327					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACCCTGATGCTCCCATAAGA	0.358000														72			36		0	0	0.021022	0	0
PRR23B	389151	broad.mit.edu	37	3	138739226	138739227	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:138739226_138739227CC>TT	uc003esy.1	-	0	542_543	c.277_278GG>AA	c.(277-279)ggt>AAt	p.G93N		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	93										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGTGTCCACCGAGAGACACT	0.658000														52			20		0	0	0.004672	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24643	24643	+	RNA	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrGL000241.1:24643G>A	uc011mgv.2	-	4		c.570C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AGCTCACCTGGAATCAGATAA	0.303000														32			4		0	0	0.009096	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164718	141164718	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:141164718A>T	uc010hup.3	+	1	3538	c.3491A>T	c.(3490-3492)cAc>cTc	p.H1164L	ZBTB38_uc003etw.3_Missense_Mutation_p.H1163L|ZBTB38_uc010hun.3_Missense_Mutation_p.H1160L|ZBTB38_uc010huo.3_Missense_Mutation_p.H1163L|ZBTB38_uc003ety.3_Missense_Mutation_p.H1163L|ZBTB38_uc021xes.1_Missense_Mutation_p.H1163L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	1163					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GACGTGTGCCACGAAAACTCA	0.418000														125			54		0	0	0.014410	0	0
LLGL2	3993	broad.mit.edu	37	17	73569281	73569281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73569281C>T	uc002joh.3	+	19	2801	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	LLGL2_uc002joi.3_Missense_Mutation_p.P883S|LLGL2_uc010dgg.2_Missense_Mutation_p.P883S|LLGL2_uc002joj.3_Missense_Mutation_p.P872S|LLGL2_uc010wsd.2_Missense_Mutation_p.P510S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	883					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGCTCAAGCCCCAGGTGCG	0.647000														78			19		0	0	0.008871	0	0
ATP13A1	57130	broad.mit.edu	37	19	19767573	19767573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:19767573G>A	uc002nnh.4	-	6	1007	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.R209C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	327					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGTGGGGAGCGGCCTGCAGGG	0.672000														27			8		0	0	0.006214	0	0
MYO10	4651	broad.mit.edu	37	5	16701681	16701681	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:16701681G>A	uc003jft.4	-	24	3291	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F	MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Silent_p.F298F|MYO10_uc011cne.2_Silent_p.F298F|MYO10_uc010itx.3_Silent_p.F564F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	941					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGGACTCGAGGAACTCCTGGG	0.637000														22			8		0	0	0.008291	0	0
OR6C70	390327	broad.mit.edu	37	12	55863781	55863781	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:55863781G>A	uc010spn.2	-	0	142	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAATCCAGCAGAATGAGGGCA	0.373000														37			15		0	0	0.020292	0	0
DCN	1634	broad.mit.edu	37	12	91558410	91558410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:91558410C>T	uc001tbt.3	-	2	550	c.296G>A	c.(295-297)gGa>gAa	p.G99E	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Missense_Mutation_p.G99E|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.G99E	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	99					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTTAAAGTCTCCATCTTTGAT	0.363000														27			14		0	0	0.020292	0	0
SLC44A2	57153	broad.mit.edu	37	19	10736962	10736962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:10736962G>A	uc002mpf.3	+	1	210	c.71G>A	c.(70-72)gGa>gAa	p.G24E	SLC44A2_uc002mpe.4_Missense_Mutation_p.G22E	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	24					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ACTTTCAAAGGACCCATTTAC	0.507000														109			31		0	0	0.021022	0	0
MGAT3	4248	broad.mit.edu	37	22	39884916	39884917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:39884916_39884917CC>TT	uc003axv.4	+	1	1803_1804	c.1564_1565CC>TT	c.(1564-1566)ccg>TTg	p.P522L	MGAT3_uc010gxy.3_Missense_Mutation_p.P522L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	522					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGGGAAGGCCGCCCGCCCGG	0.678000														6			6		0	0	0.004672	0	0
WNK1	65125	broad.mit.edu	37	12	968444	968444	+	Silent	SNP	C	T	T	rs61736906		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:968444C>T	uc021qss.1	+	5	2077	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	WNK1_uc001qio.4_Silent_p.F478F|WNK1_uc021qst.1_Silent_p.F478F|WNK1_uc001qip.4_Silent_p.F478F|WNK1_uc001qir.4_5'Flank	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	478	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCATGCCTTCTTCCAAGAGG	0.323000														54			12		0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:179568878G>A	uc021vsy.1	-	102	26712	c.26487C>T	c.(26485-26487)atC>atT	p.I8829I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I5490I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9756	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468000														136			14		0	0	0.028581	0	0
SIRT6	51548	broad.mit.edu	37	19	4174812	4174812	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:4174812G>A	uc002lzo.3	-	7	930	c.870C>T	c.(868-870)ccC>ccT	p.P290P	SIRT6_uc002lzq.3_Silent_p.P263P|SIRT6_uc002lzp.3_3'UTR|SIRT6_uc010xid.2_Silent_p.P218P|SIRT6_uc002lzr.3_Silent_p.P191P	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	290	Pro-rich.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCGGGCGGGGCAGGGGTG	0.706000														3			4		0	0	0.014758	0	0
TTC17	55761	broad.mit.edu	37	11	43513659	43513659	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:43513659C>T	uc001mxi.3	+	22	3310	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	TTC17_uc010rfj.2_Silent_p.I1080I|TTC17_uc001mxl.3_Silent_p.I136I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1080							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGTAGAGATCGCACCACACT	0.522000														63			46		0	0	0.011902	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:74464404G>A	uc003xzm.3	-	12	1714	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	STAU2_uc011lfh.2_Missense_Mutation_p.S354L|STAU2_uc003xzn.3_Missense_Mutation_p.S426L|STAU2_uc011lfg.2_Missense_Mutation_p.S286L|STAU2_uc003xzo.3_Missense_Mutation_p.S458L|STAU2_uc003xzq.3_Missense_Mutation_p.S238L|STAU2_uc003xzp.3_Missense_Mutation_p.S426L|STAU2_uc011lfi.2_Missense_Mutation_p.S420L|STAU2_uc010lzk.3_Missense_Mutation_p.S426L|STAU2_uc010lzl.1_Missense_Mutation_p.S286L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000														124			42		0	0	0.010771	0	0
ARAP1	116985	broad.mit.edu	37	11	72408489	72408489	+	Silent	SNP	A	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:72408489A>G	uc001osu.3	-	20	3021	c.2832T>C	c.(2830-2832)ggT>ggC	p.G944G	ARAP1_uc001osv.3_Silent_p.G944G|ARAP1_uc001osr.3_Silent_p.G704G|ARAP1_uc001oss.3_Silent_p.G699G|ARAP1_uc009yth.3_Silent_p.G638G|ARAP1_uc010rre.2_Silent_p.G699G	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	944					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCCAGCCAACCCATGAAGT	0.642000														154			122		0	0	0.014410	0	0
HTR3B	9177	broad.mit.edu	37	11	113803741	113803741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:113803741G>A	uc001pok.3	+	5	760	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	HTR3B_uc001pol.3_Missense_Mutation_p.E197K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	208					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGAGTGGGAACTTCTATC	0.473000														23			13		0	0	0.013537	0	0
CSMD2	114784	broad.mit.edu	37	1	34174706	34174706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:34174706C>T	uc001bxm.1	-	21	3736	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1147K|CSMD2_uc001bxo.1_Missense_Mutation_p.E60K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1147	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATCTCCTTCGGAGAGTTCG	0.428000														67			35		0	0	0.030466	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				29			13		0	0	0.024245	0	0
OR1L6	392390	broad.mit.edu	37	9	125512178	125512178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:125512178C>T	uc022bna.1	+	0	52	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CCTCCTGGGCCTCTCTTCCAA	0.532000														137			59		0	0	0.014410	0	0
COL1A1	1277	broad.mit.edu	37	17	48272431	48272431	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48272431C>G	uc002iqm.3	-	19	1456	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	444	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCACCAGTGTCTCCTTTGCTG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							73			46		0	0	0.014410	0	0
GSG1L	146395	broad.mit.edu	37	16	27856321	27856321	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:27856321G>A	uc002doz.2	-	3	697	c.612C>T	c.(610-612)ctC>ctT	p.L204L	GSG1L_uc010bya.1_Silent_p.L153L|GSG1L_uc010bxz.1_Silent_p.L49L|GSG1L_uc002doy.2_Silent_p.L49L	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	204						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602000														20			9		0	0	0.004482	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45255633	45255633	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:45255633C>T	uc003bfd.3	+	15	1807	c.1530C>T	c.(1528-1530)gtC>gtT	p.V510V	PRR5-ARHGAP8_uc011aqi.2_Silent_p.V422V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V353V|PRR5-ARHGAP8_uc010gzv.3_Intron|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V331V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V300V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCCTGCGTGTCACTGGCTGCC	0.667000														30			32		0	0	0.017118	0	0
ADAM23	8745	broad.mit.edu	37	2	207482325	207482325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:207482325G>A	uc002vbq.3	+	25	2696	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	825					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.F824F(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAGAAGGTTCGATCCTACTCA	0.473000														19			13		0	0	0.020292	0	0
PRPH2	5961	broad.mit.edu	37	6	42690018	42690018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:42690018C>T	uc003osk.3	-	0	341	c.55G>A	c.(55-57)Ggg>Agg	p.G19R		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	19					cell adhesion|visual perception	integral to membrane		p.Q18H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGCCAGAGCCCTTGGGCCAAC	0.532000														65			25		0	0	0.027356	0	0
CDK13	8621	broad.mit.edu	37	7	40085609	40085609	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:40085609T>A	uc003thh.4	+	5	2810	c.2528T>A	c.(2527-2529)aTc>aAc	p.I843N	CDK13_uc003thi.4_Missense_Mutation_p.I843N|CDK13_uc011kbf.2_Missense_Mutation_p.I229N	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	843	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.I843F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGTTCCAATATCCTTCTAAAT	0.328000														108			19		0	0	0.010504	0	0
DOCK2	1794	broad.mit.edu	37	5	169474612	169474612	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:169474612C>T	uc003maf.3	+	39	4145	c.4065C>T	c.(4063-4065)ttC>ttT	p.F1355F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.F847F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1355	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCCTCCTTCCTGCGGGTGA	0.537000														31			18		0	0	0.033300	0	0
RECQL5	9400	broad.mit.edu	37	17	73627090	73627090	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73627090C>T	uc010dgl.3	-	11	1758	c.1549_splice	c.e11-1	p.G517_splice	RECQL5_uc010dgk.3_Splice_Site_p.G490_splice|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	517					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGTCTTTGCCCTGGAGGACA	0.592000								Other identified genes with known or suspected DNA repair function						39			14		0	0	0.024245	0	0
KIAA1274	27143	broad.mit.edu	37	10	72298062	72298062	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:72298062C>T	uc001jrd.4	+	11	1631	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	450										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCTCAGTTTCAGCCGCTGGC	0.672000														47			13		0	0	0.020292	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186570840	186570840	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:186570840G>A	uc010hyy.3	+	3	128	c.-7_splice	c.e3-1		ADIPOQ_uc003fra.3_Splice_Site	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.						brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TGGATTCCAGGGCTCAGGATG	0.572000														51			29		0	0	0.009535	0	0
KCNK10	54207	broad.mit.edu	37	14	88729741	88729741	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:88729741C>T	uc001xwm.3	-	1	329	c.207G>A	c.(205-207)caG>caA	p.Q69Q	KCNK10_uc001xwn.3_Silent_p.Q69Q|KCNK10_uc001xwo.3_Silent_p.Q64Q	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	64					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.W69R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCATGACGGTCTGCAAGCCCC	0.607000														48			39		0	0	0.023175	0	0
ABCB10	23456	broad.mit.edu	37	1	229676463	229676463	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:229676463G>A	uc001htp.4	-	4	1136	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	365	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCAAAAGCTCGAACAGTTCTT	0.423000														44			27		0	0	0.027356	0	0
ICOSLG	23308	broad.mit.edu	37	21	45655373	45655373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:45655373G>A	uc010gpp.1	-	3	613	c.479C>T	c.(478-480)tCc>tTc	p.S160F	ICOSLG_uc002zef.3_Missense_Mutation_p.S43F|ICOSLG_uc002zee.3_Missense_Mutation_p.S160F|ICOSLG_uc011afc.2_Missense_Mutation_p.S70F	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	160	Ig-like C2-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCCGTTTATGGATGTACACGT	0.567000														85			41		0	0	0.033182	0	0
TMEM180	79847	broad.mit.edu	37	10	104231132	104231132	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104231132C>T	uc001kvt.3	+	5	1026	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TMEM180_uc001kvs.3_Silent_p.F118F|TMEM180_uc010qql.2_5'UTR|TMEM180_uc010qqm.1_Silent_p.F118F|TMEM180_uc001kvu.3_Silent_p.F269F	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	269						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCTGTGGTTCGTGAGCATGG	0.617000														64			27		0	0	0.034045	0	0
C1orf173	127254	broad.mit.edu	37	1	75038358	75038358	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:75038358G>A	uc001dgg.3	-	13	3255	c.3036C>T	c.(3034-3036)agC>agT	p.S1012S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1012	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCAGGGCTGCCCTCCG	0.517000														29			22		0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9049101	9049101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9049101G>A	uc002mkp.3	-	4	32734	c.32530C>T	c.(32530-32532)Cat>Tat	p.H10844Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10846	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATTTACTATGGAAAAAAATG	0.483000														90			44		0	0	0.014410	0	0
ZNF438	220929	broad.mit.edu	37	10	31139069	31139069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:31139069C>T	uc010qdz.2	-	6	700	c.265G>A	c.(265-267)Gag>Aag	p.E89K	ZNF438_uc001ivn.3_Missense_Mutation_p.E40K|ZNF438_uc010qdy.2_Missense_Mutation_p.E79K|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Missense_Mutation_p.E89K|ZNF438_uc001ivp.4_Missense_Mutation_p.E79K|ZNF438_uc010qea.2_Missense_Mutation_p.E89K|ZNF438_uc010qeb.2_Missense_Mutation_p.E89K|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AATGTCCCCTCCTGGCCAGCA	0.522000														51			43		0	0	0.033182	0	0
MTHFR	4524	broad.mit.edu	37	1	11856335	11856335	+	Silent	SNP	G	A	A	rs34279942	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:11856335G>A	uc001atb.1	-	3	975	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MTHFR_uc001atc.2_Silent_p.F236F	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	236					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CAAAGCGGAAGAATGTGTCAG	0.557000														192			69		0	0	0.014410	0	0
ULBP1	80329	broad.mit.edu	37	6	150291158	150291158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:150291158C>T	uc003qnp.3	+	3	675	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	211					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCAGAACCACCCTCTCTGGCC	0.562000														6			3		0	0	0.004672	0	0
NRXN1	9378	broad.mit.edu	37	2	50280446	50280446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:50280446C>T	uc021vhh.1	-	18	4922	c.4001G>A	c.(4000-4002)aGa>aAa	p.R1334K	NRXN1_uc010fbp.3_Missense_Mutation_p.R299K|NRXN1_uc002rxb.4_Missense_Mutation_p.R1036K|NRXN1_uc021vhg.1_Missense_Mutation_p.R1404K|NRXN1_uc021vhi.1_Missense_Mutation_p.R1400K|NRXN1_uc021vhj.1_Missense_Mutation_p.R1330K	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1334					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTCCTCTTCTGGCTGTGCT	0.453000														88			37		0	0	0.027894	0	0
SPECC1	92521	broad.mit.edu	37	17	20013850	20013850	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:20013850G>A	uc002gwq.3	+	2	368	c.258G>A	c.(256-258)acG>acA	p.T86T	SPECC1_uc010cqx.3_Silent_p.T86T|SPECC1_uc002gwr.3_Silent_p.T86T|SPECC1_uc002gws.3_Silent_p.T86T	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	86						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CGGAGCTCACGGAGAGCCGCC	0.652000														16			11		0	0	0.010729	0	0
RRBP1	6238	broad.mit.edu	37	20	17640672	17640672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:17640672G>A	uc002wpw.1	-	1	758	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Nonsense_Mutation_p.Q161*|RRBP1_uc021waw.1_Nonsense_Mutation_p.Q161*|RRBP1_uc010zrq.1_Nonsense_Mutation_p.Q161*|RRBP1_uc010zrr.1_Nonsense_Mutation_p.Q161*	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	591					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTGAGAACCTGGATGGAATTC	0.562000														16			12		0	0	0.016723	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008225	32008226	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:32008225_32008226CC>TT	uc003nze.2	+	7	1089_1090	c.982_983CC>TT	c.(982-984)cct>TTt	p.P328F	CYP21A2_uc003nzf.2_Missense_Mutation_p.P298F	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	327					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CGAACTGGGCCCTGGTGCCTCC	0.678000														249			66		0	0	0.004672	0	0
USP31	57478	broad.mit.edu	37	16	23079464	23079464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:23079464G>A	uc002dll.3	-	15	3962	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L	USP31_uc002dlk.3_Missense_Mutation_p.P593L|USP31_uc010vca.2_Missense_Mutation_p.P624L|USP31_uc010bxm.3_Missense_Mutation_p.P609L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1321					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGGAGACGAGGGAACTCCAGA	0.507000														88			34		0	0	0.021022	0	0
RTTN	25914	broad.mit.edu	37	18	67692000	67692000	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:67692000A>G	uc002lkp.2	-	43	5976	c.5908T>C	c.(5908-5910)Tct>Cct	p.S1970P	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.S1058P|RTTN_uc010dqp.2_Missense_Mutation_p.S222P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1970							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGCTGCAGAGAAATTTGCATC	0.388000														39			17		0	0	0.007413	0	0
INPP1	3628	broad.mit.edu	37	2	191235953	191235953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:191235953C>T	uc002ury.4	+	6	1725	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	INPP1_uc010fsb.3_Missense_Mutation_p.P342L|INPP1_uc002urx.4_Missense_Mutation_p.P342L	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	342					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GAAAGAAATCCAGAAACAGGG	0.498000														68			4		0	0	0.009096	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297868	139297868	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:139297868A>C	uc003etj.3	-	1	179	c.139T>G	c.(139-141)Tct>Gct	p.S47A	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Missense_Mutation_p.S10A|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	47					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTGACAGGAGAGATGATACCC	0.557000														18			11		0	0	0.013537	0	0
INO80D	54891	broad.mit.edu	37	2	206869273	206869273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:206869273G>A	uc002vaz.4	-	10	3308	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTGCTGCTTGGGAGAGGTGGA	0.602000														11			11		0	0	0.016723	0	0
C8B	732	broad.mit.edu	37	1	57417821	57417821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:57417821G>A	uc001cyp.3	-	4	633	c.566C>T	c.(565-567)cCa>cTa	p.P189L	C8B_uc010oon.2_Missense_Mutation_p.P127L|C8B_uc010ooo.2_Missense_Mutation_p.P137L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATCAAGAACTGGGCCCTCAAA	0.468000														106			42		0	0	0.014410	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195178	1195178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:1195178G>A	uc003skd.4	-	3	494	c.193C>T	c.(193-195)Cca>Tca	p.P65S	ZFAND2A_uc003skc.3_Missense_Mutation_p.P65S|ZFAND2A_uc021zyp.1_Non-coding_Transcript			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	65						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TTTTTTACTGGGATGGGGGTA	0.458000														103			26		0	0	0.021523	0	0
LAMA3	3909	broad.mit.edu	37	18	21404449	21404449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr18:21404449C>T	uc002kuq.3	+	20	2577	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	LAMA3_uc002kur.3_Missense_Mutation_p.P831S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	831	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCACTGTCCCTGGAAATGG	0.433000														95			32		0	0	0.012213	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854405	42854405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:42854405C>T	uc010skv.2	-	7	1989	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PRICKLE1_uc001rnl.3_Missense_Mutation_p.E568K|PRICKLE1_uc010skw.2_Missense_Mutation_p.E568K|PRICKLE1_uc001rnm.3_Missense_Mutation_p.E568K|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	568					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTTTCCATCTCCTCAAAATTT	0.433000														63			33		0	0	0.013726	0	0
ODZ1	10178	broad.mit.edu	37	X	123775804	123775804	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:123775804G>A	uc010nqy.3	-	10	1978	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	ODZ1_uc011muj.2_Silent_p.I637I|ODZ1_uc004euj.3_Silent_p.I638I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	638	EGF-like 4.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTTTTACACAGATGCCATGGT	0.488000														66			93		0	0	0.014410	0	0
EXPH5	23086	broad.mit.edu	37	11	108409813	108409813	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:108409813G>A	uc001pkk.3	-	2	492	c.381C>T	c.(379-381)tcC>tcT	p.S127S	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	127					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGAGAACAGGGAAGCAAATG	0.408000														50			45		0	0	0.014410	0	0
POLR2I	5438	broad.mit.edu	37	19	36604965	36604965	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36604965G>A	uc002ode.3	-	4	715	c.267C>T	c.(265-267)tgC>tgT	p.C89C	POLR2I_uc002odf.3_Non-coding_Transcript|TBCB_uc002odg.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa (POLR2I), mRNA.	89					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTTGTGGCCGCACCTGAGAG	0.607000											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		151			4		0	0	0.021553	0	0
ABCA7	10347	broad.mit.edu	37	19	1054604	1054604	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:1054604C>T	uc002lqw.4	+	27	3993	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ABCA7_uc010dsb.1_Silent_p.L1116L|ABCA7_uc002lqy.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1254					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGCCCTCGTGTTCAGCC	0.632000														27			28		0	0	0.034045	0	0
ABCC3	8714	broad.mit.edu	37	17	48755254	48755254	+	Silent	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48755254T>C	uc002isl.3	+	23	3608	c.3528T>C	c.(3526-3528)acT>acC	p.T1176T	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1176	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCAGTGATACTAAGGTGGATG	0.572000														121			76		0	0	0.014410	0	0
IFRD2	7866	broad.mit.edu	37	3	50326110	50326110	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:50326110G>A	uc003czb.3	-	12	1554	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	IFRD2_uc011bdp.2_Silent_p.F416F	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	416							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTCAAAGCCGAAGCGCACTA	0.607000														19			12		0	0	0.013537	0	0
NCAM2	4685	broad.mit.edu	37	21	22804491	22804491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:22804491C>T	uc002yld.2	+	11	1793	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	NCAM2_uc011acb.2_Missense_Mutation_p.S373F	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	515	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCAAGGTTTCCTTCAACAAA	0.453000														33			11		0	0	0.010729	0	0
PCDH15	65217	broad.mit.edu	37	10	55912989	55912989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:55912989G>A	uc010qhy.1	-	14	2065	c.1670C>T	c.(1669-1671)gCt>gTt	p.A557V	PCDH15_uc010qhq.2_Missense_Mutation_p.A557V|PCDH15_uc010qhr.2_Missense_Mutation_p.A552V|PCDH15_uc021pqv.1_Missense_Mutation_p.A552V|PCDH15_uc021pqw.1_Missense_Mutation_p.A564V|PCDH15_uc010qht.2_Missense_Mutation_p.A559V|PCDH15_uc021pqx.1_Missense_Mutation_p.A552V|PCDH15_uc001jjv.1_Missense_Mutation_p.A530V|PCDH15_uc021pqy.1_Missense_Mutation_p.A552V|PCDH15_uc021pqz.1_Missense_Mutation_p.A530V|PCDH15_uc010qhv.1_Missense_Mutation_p.A552V|PCDH15_uc010qhw.1_Missense_Mutation_p.A515V|PCDH15_uc010qhx.1_Missense_Mutation_p.A552V|PCDH15_uc010qhz.1_Missense_Mutation_p.A552V|PCDH15_uc010qia.1_Missense_Mutation_p.A530V|PCDH15_uc001jju.1_Missense_Mutation_p.A552V|PCDH15_uc010qib.1_Missense_Mutation_p.A530V|PCDH15_uc001jjw.3_Missense_Mutation_p.A552V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	552	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A557D(2)|p.A552D(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTCCCTGAGCCCCAACAAG	0.488000										HNSCC(58;0.16)				57			25		0	0	0.024334	0	0
PCDH15	65217	broad.mit.edu	37	10	55780154	55780154	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:55780154G>T	uc010qhy.1	-	20	2959	c.2564C>A	c.(2563-2565)gCa>gAa	p.A855E	PCDH15_uc010qhq.2_Missense_Mutation_p.A855E|PCDH15_uc010qhr.2_Missense_Mutation_p.A850E|PCDH15_uc021pqv.1_Missense_Mutation_p.A850E|PCDH15_uc021pqw.1_Missense_Mutation_p.A862E|PCDH15_uc010qht.2_Missense_Mutation_p.A857E|PCDH15_uc021pqx.1_Missense_Mutation_p.A850E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A850E|PCDH15_uc021pqz.1_Missense_Mutation_p.A828E|PCDH15_uc010qhv.1_Missense_Mutation_p.A850E|PCDH15_uc010qhw.1_Missense_Mutation_p.A813E|PCDH15_uc010qhx.1_Missense_Mutation_p.A779E|PCDH15_uc010qhz.1_Missense_Mutation_p.A850E|PCDH15_uc010qia.1_Missense_Mutation_p.A828E|PCDH15_uc001jju.1_Missense_Mutation_p.A850E|PCDH15_uc010qib.1_Missense_Mutation_p.A828E|PCDH15_uc001jjw.3_Missense_Mutation_p.A850E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	850	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R855Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGACACATTTGCTCCAAGGTC	0.388000										HNSCC(58;0.16)				122			17		0.00400662	0.00407618	0.028581	1	0
GRM3	2913	broad.mit.edu	37	7	86469000	86469000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:86469000G>A	uc003uid.3	+	3	3269	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E596K|GRM3_uc010leh.3_Missense_Mutation_p.E316K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	724					synaptic transmission	integral to plasma membrane		p.R723W(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGAAGCGGGAAACAGTCAT	0.498000														35			33		0	0	0.017118	0	0
CDH6	1004	broad.mit.edu	37	5	31316371	31316371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:31316371G>A	uc003jhe.2	+	8	1807	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	CDH6_uc003jhd.2_Missense_Mutation_p.D483N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	483	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGATGTCAATGACAACGCCCC	0.338000														21			11		0	0	0.008291	0	0
HRH2	3274	broad.mit.edu	37	5	175110686	175110686	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:175110686C>T	uc003mdc.4	+	1	1094	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HRH2_uc003mdd.2_Silent_p.S150S	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	150					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TTACCCTGTCCTTTCTGTCTA	0.547000														22			14		0	0	0.020292	0	0
COL13A1	1305	broad.mit.edu	37	10	71690275	71690275	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:71690275G>A	uc001jql.3	+	28	2153	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	COL13A1_uc021prz.1_Silent_p.G517G|COL13A1_uc021psa.1_Silent_p.G482G|COL13A1_uc021psb.1_Silent_p.G488G|COL13A1_uc001jqk.2_Silent_p.G517G|COL13A1_uc021psc.1_Silent_p.G520G|COL13A1_uc021psd.1_Silent_p.G517G|COL13A1_uc010qjf.2_Silent_p.G482G|COL13A1_uc021pse.1_Silent_p.G488G|COL13A1_uc021psf.1_Silent_p.G539G|COL13A1_uc021psg.1_Silent_p.G517G|COL13A1_uc021psh.1_Silent_p.G520G	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	539	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGAGAAGGGGGAAAAAGGGG	0.632000														32			14		0	0	0.020292	0	0
ZNF676	163223	broad.mit.edu	37	19	22363330	22363330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22363330C>T	uc002nqs.1	-	2	1507	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.418000														49			15		0	0	0.006122	0	0
CLCN5	1184	broad.mit.edu	37	X	49845367	49845367	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:49845367C>T	uc004dos.1	+	4	758	c.510C>T	c.(508-510)atC>atT	p.I170I	CLCN5_uc004dor.1_Silent_p.I240I|CLCN5_uc004doq.1_Silent_p.I240I|CLCN5_uc004dot.1_Silent_p.I170I	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	170					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCTCTGGAATCCCTGAGGTGA	0.388000														12			29		0	0	0.019004	0	0
OR1M1	125963	broad.mit.edu	37	19	9204508	9204508	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9204508G>A	uc010xkj.2	+	0	588	c.588G>A	c.(586-588)agG>agA	p.R196R		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGTGAATAGGATCTTCATCC	0.567000														84			44		0	0	0.010771	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162807	12162808	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:12162807_12162808CC>TT	uc001ild.4	+	16	2779_2780	c.2680_2681CC>TT	c.(2680-2682)cct>TTt	p.P894F		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	894					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.P894L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGGCCGGCCCCCTTTGCCAGTA	0.475000														378			105		0	0	0.004672	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184856	167184856	+	Silent	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:167184856T>C	uc003fes.1	-	2	566	c.495A>G	c.(493-495)gaA>gaG	p.E165E	SERPINI2_uc003fer.1_Silent_p.E155E|SERPINI2_uc003fet.1_Silent_p.E155E	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	155					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTGTTTTTCTTTCTACCCAGG	0.323000														47			9		0	0	0.004482	0	0
TBX5	6910	broad.mit.edu	37	12	114793507	114793507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:114793507G>A	uc001tvo.3	-	8	1882	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	TBX5_uc001tvp.3_Missense_Mutation_p.H463Y|TBX5_uc001tvq.3_Missense_Mutation_p.H413Y	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	463					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACAGGCTGGTGGGCCACGGAG	0.662000														26			29		0	0	0.009535	0	0
LOC729264	729264	broad.mit.edu	37	16	32265026	32265026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:32265026G>A	uc021tgy.1	+	0	377	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	118						cytoplasm|nucleus											CTCCGCGGCAGGGTTGTCAAG	0.602000														91			21		0	0	0.016522	0	0
RSAD2	91543	broad.mit.edu	37	2	7027287	7027287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:7027287C>T	uc002qyp.1	+	2	866	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	244					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R244H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AAACCCTGTCCGCTGGAAAGT	0.383000														24			5		0	0	0.029380	0	0
SARS2	54938	broad.mit.edu	37	19	39408363	39408363	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:39408363C>T	uc010xup.1	-	13	1326	c.1166_splice	c.e13+1	p.R389_splice	SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	387					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCTCTCCACACCGGAAGTGCA	0.642000														69			22		0	0	0.012319	0	0
MYOM3	127294	broad.mit.edu	37	1	24424459	24424459	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:24424459C>T	uc001bin.4	-	6	862	c.699G>A	c.(697-699)aaG>aaA	p.K233K	MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Silent_p.K233K|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	233	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGTGGGCGTTCTTCACTCGCA	0.587000														200			97		0	0	0.014410	0	0
SOX10	6663	broad.mit.edu	37	22	38370097	38370098	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:38370097_38370098GG>AA	uc003aun.1	-	3	1083_1084	c.805_806CC>TT	c.(805-807)cct>TTt	p.P269F	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P269F	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	269						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GTCGATGTGAGGCTTCCCGCCC	0.624000														89			84		0	0	0.004672	0	0
CRTAM	56253	broad.mit.edu	37	11	122738147	122738147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:122738147G>A	uc001pyj.3	+	7	848	c.848G>A	c.(847-849)aGa>aAa	p.R283K	CRTAM_uc001pyk.3_Missense_Mutation_p.R84K	NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	283					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGACTGGCAAGAAAGAAAAGT	0.388000														24			11		0	0	0.008291	0	0
TRMT5	57570	broad.mit.edu	37	14	61446561	61446561	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:61446561G>A	uc001xff.4	-	1	146	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	19						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGGCTTTCCAGTTTCAGAAAT	0.358000														32			28		0	0	0.030593	0	0
RHOH	399	broad.mit.edu	37	4	40245489	40245490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:40245489_40245490GG>AA	uc003guz.2	+	2	1207_1208	c.483_484GG>AA	c.(481-486)caggtg>caAAtg	p.V162M	RHOH_uc021xnp.1_Missense_Mutation_p.V162M	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	162					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GAGTACAGCAGGTGTTTGAGTG	0.559000														12			11		0	0	0.004672	0	0
POTEF	728378	broad.mit.edu	37	2	130832617	130832617	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:130832617G>A	uc010fmh.2	-	16	2828	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	810	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTAGGGTTCAGGGTGGCCTCG	0.587000														143			64		0	0	0.014410	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142162	133142162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:133142162C>T	uc003ytj.3	-	14	2191	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	KCNQ3_uc003yti.3_Missense_Mutation_p.E536K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E644K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	656					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E656K(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTAATACTCCGTGACCTGC	0.498000														74			81		0	0	0.014410	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784242	8784242	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:8784242C>T	uc002glt.3	-	17	2542	c.2475G>A	c.(2473-2475)aaG>aaA	p.K825K	PIK3R5_uc010vuz.2_Silent_p.K825K|PIK3R5_uc021tqc.1_Silent_p.K439K|PIK3R5_uc010cob.2_Silent_p.K439K|PIK3R5_uc010coa.2_Silent_p.K439K|PIK3R5_uc002glu.4_Silent_p.K439K	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	825					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TCTGCAGGATCTTTCTCTCAT	0.567000														49			22		0	0	0.012319	0	0
ACSF2	80221	broad.mit.edu	37	17	48538069	48538069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:48538069C>T	uc010wmm.1	+	2	339	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	ACSF2_uc002iqu.2_Missense_Mutation_p.P54S|ACSF2_uc010wml.1_Missense_Mutation_p.P54S|ACSF2_uc010wmn.1_Missense_Mutation_p.P54S|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	54					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTCTCCACGCCCATCGGAGG	0.577000														21			5		0	0	0.003080	0	0
NRG3	10718	broad.mit.edu	37	10	83635601	83635601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:83635601C>T	uc021pvc.1	+	0	532	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NRG3_uc010qlz.1_Missense_Mutation_p.P169S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P169S|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	169	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACTCGCTTCCCCGGGCACCG	0.746000														26			14		0	0	0.024245	0	0
TMEM119	338773	broad.mit.edu	37	12	108985508	108985508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:108985508C>T	uc001tng.3	-	1	815	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	TMEM119_uc021rdl.1_Missense_Mutation_p.E218K	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	218						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCCTGGACTTCCTGGTCCCCC	0.701000														89			28		0	0	0.030593	0	0
OR52I2	143502	broad.mit.edu	37	11	4608745	4608746	+	Missense_Mutation	DNP	CT	TA	TA	rs137965376	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:4608745_4608746CT>TA	uc010qyh.2	+	0	725_726	c.703_704CT>TA	c.(703-705)ctt>TAt	p.L235Y		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTTCCTCTCTTATGGTGGGC	0.485000														92			73		0	0	0.004672	0	0
PNMA5	114824	broad.mit.edu	37	X	152158843	152158843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:152158843C>T	uc022chn.1	-	0	1300	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PNMA5_uc010ntx.3_Missense_Mutation_p.E434K|PNMA5_uc010ntw.3_Missense_Mutation_p.E434K|PNMA5_uc004fgy.4_Missense_Mutation_p.E434K|PNMA5_uc022chm.1_Missense_Mutation_p.E434K	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	434					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTGCCTCGTTTCCCAAC	0.612000														24			50		0	0	0.014410	0	0
GKAP1	80318	broad.mit.edu	37	9	86357495	86357495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:86357495G>A	uc004amy.3	-	10	1421	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	GKAP1_uc004amz.3_Missense_Mutation_p.L258F	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	309					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACTTGCAGAAGTATTTCTGCC	0.363000														82			18		0	0	0.006122	0	0
DBC1	1620	broad.mit.edu	37	9	121971120	121971120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:121971120C>T	uc004bkc.2	-	6	1478	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	341					cell cycle arrest|cell death	cytoplasm	protein binding	p.R341R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GAGCTTGTAGCGGTTCTGCAG	0.552000														53			24		0	0	0.018920	0	0
ABCA8	10351	broad.mit.edu	37	17	66928525	66928525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:66928525G>A	uc002jhq.3	-	6	1041	c.701C>T	c.(700-702)tCc>tTc	p.S234F	ABCA8_uc002jhp.3_Missense_Mutation_p.S234F|ABCA8_uc010wqq.2_Missense_Mutation_p.S234F|ABCA8_uc010wqr.2_Missense_Mutation_p.S173F|ABCA8_uc002jhr.3_Missense_Mutation_p.S234F|ABCA8_uc002jhs.3_Missense_Mutation_p.S234F|ABCA8_uc002jht.3_Missense_Mutation_p.S234F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	234						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATGAATGAGGAAAATGAAAT	0.378000														42			14		0	0	0.016723	0	0
SCN11A	11280	broad.mit.edu	37	3	38888816	38888816	+	Missense_Mutation	SNP	G	A	A	rs150988853		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:38888816G>A	uc021wvy.1	-	25	4944	c.4745C>T	c.(4744-4746)tCc>tTc	p.S1582F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1582					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1582F(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACAAAGTAGGATGTGGCTAT	0.438000														46			10		0	0	0.008291	0	0
FMNL2	114793	broad.mit.edu	37	2	153481964	153481964	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:153481964A>G	uc002tye.3	+	15	2217	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	FMNL2_uc010fob.3_Missense_Mutation_p.K73R|FMNL2_uc002tyf.3_Missense_Mutation_p.K66R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	617	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTGAAAATTAAGAAGCCAATC	0.418000														24			12		0	0	0.010729	0	0
CES4A	283848	broad.mit.edu	37	16	67039259	67039259	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:67039259C>T	uc002eqv.3	+	9	1381	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	CES4A_uc010vix.2_Silent_p.F426F|CES4A_uc002eqw.3_Silent_p.F399F|CES4A_uc010viy.2_Silent_p.F332F|CES4A_uc002eqx.3_Silent_p.F232F|CES4A_uc002eqy.3_Silent_p.F328F	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	426						extracellular region	carboxylesterase activity	p.F399L(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ATGCCACTTTCGTGTATGCCA	0.532000														65			41		0	0	0.036044	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102537323	102537323	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:102537323G>A	uc003kod.4	+	30	4239	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.G1219G|PPIP5K2_uc003kof.3_Silent_p.G422G	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1240					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAACACTGGGAAAAAGAAAT	0.318000														12			9		0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44086843	44086843	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:44086843C>T	uc001cjr.3	+	32	5935	c.5595C>T	c.(5593-5595)gtC>gtT	p.V1865V	PTPRF_uc001cjs.3_Silent_p.V1856V|PTPRF_uc001cju.3_Silent_p.V1254V|PTPRF_uc009vwt.3_Silent_p.V1425V|PTPRF_uc001cjv.3_Silent_p.V1336V|PTPRF_uc001cjw.3_Silent_p.V1091V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1865	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGCGTGGTCGACATGTTTC	0.622000														31			17		0	0	0.033300	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822813	26822813	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26822813C>T	uc010wan.2	+	9	1663	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SLC13A2_uc010wam.2_Silent_p.F439F|SLC13A2_uc002hbh.3_Silent_p.F483F|SLC13A2_uc010wao.2_Silent_p.F440F|SLC13A2_uc002hbi.3_Silent_p.F412F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	483						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTACGATCTTCCTGCCCATCC	0.632000														64			36		0	0	0.027894	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170030	118170030	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:118170030C>T	uc003yoh.3	+	3	749	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC30A8_uc010mcz.3_Silent_p.I124I|SLC30A8_uc003yog.3_Silent_p.I124I|SLC30A8_uc011lia.2_Silent_p.I124I|SLC30A8_uc022bab.1_Silent_p.I124I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	173					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATTACCAGATCCAGGCGACTG	0.567000														567			163		0	0	0.014410	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281344	15281344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15281344C>T	uc002nan.3	-	26	4988	c.4912G>A	c.(4912-4914)Gaa>Aaa	p.E1638K		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1638					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCTGGGTTCTGGAGGCTCC	0.701000														16			5		0	0	0.021553	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004874	20004874	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:20004874C>T	uc011kyq.2	-	15	1830	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	SLC18A1_uc003wzm.3_Silent_p.K453K|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Silent_p.K421K|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	453					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AACCGATGGCCTTTACAATGG	0.537000														18			13		0	0	0.028581	0	0
EPHA6	285220	broad.mit.edu	37	3	97251218	97251218	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:97251218C>T	uc010how.1	+	10	2260	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.V105V|EPHA6_uc003drs.4_Silent_p.V131V|EPHA6_uc003drr.4_Silent_p.V131V|EPHA6_uc003drt.3_Silent_p.V131V|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	644	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGAGAAGTCTGTAGTGGGC	0.383000														72			27		0	0	0.030593	0	0
GRIK4	2900	broad.mit.edu	37	11	120838011	120838011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:120838011G>A	uc001pxn.2	+	18	2661	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	GRIK4_uc009zaw.1_Missense_Mutation_p.E792K|GRIK4_uc009zax.1_Missense_Mutation_p.E792K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	792					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGCCCCAAGGAGGAAGATCA	0.532000														20			12		0	0	0.024245	0	0
PLCL1	5334	broad.mit.edu	37	2	198948543	198948543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:198948543C>T	uc010fsp.3	+	1	700	c.302C>T	c.(301-303)tCg>tTg	p.S101L	PLCL1_uc002uuv.4_Missense_Mutation_p.S22L	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	101	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCATGCCATCGGAAAAGAAA	0.383000														18			13		0	0	0.024245	0	0
FZD2	2535	broad.mit.edu	37	17	42636670	42636670	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:42636670G>C	uc002igx.2	+	0	1859	c.1614G>C	c.(1612-1614)tgG>tgC	p.W538C		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	538					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGCTTCTGGATCTGGTCGG	0.627000														25			9		0	0	0.006214	0	0
ASNS	440	broad.mit.edu	37	7	97482507	97482507	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:97482507G>A	uc003uot.4	-	11	1847	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	ASNS_uc011kin.2_Silent_p.L364L|ASNS_uc011kio.2_Silent_p.L426L|ASNS_uc003uou.4_Silent_p.L447L|ASNS_uc003uov.4_Silent_p.L447L|ASNS_uc003uox.4_Silent_p.L364L	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	447	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTCTCTCAGGAGATGTTTTT	0.383000														14			23		0	0	0.018920	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639219	56639219	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:56639219G>A	uc001skm.4	-	20	2436	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	782							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGCATCCAGGGGATCTGTGG	0.627000														25			21		0	0	0.010504	0	0
PM20D1	148811	broad.mit.edu	37	1	205801883	205801883	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:205801883G>A	uc001hdj.3	-	10	1204	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	376						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGTTCTTCGTGAGTTCTAGGA	0.463000														58			23		0	0	0.018920	0	0
PAPD4	167153	broad.mit.edu	37	5	78964810	78964811	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:78964810_78964811CC>TT	uc010jae.1	+	12	1585_1586	c.1167_1168CC>TT	c.(1165-1170)gacctc>gaTTtc	p.L390F	PAPD4_uc003kgb.2_Missense_Mutation_p.L390F|PAPD4_uc010jaf.1_Missense_Mutation_p.L390F|PAPD4_uc003kga.2_Missense_Mutation_p.L386F|PAPD4_uc003kfz.2_Missense_Mutation_p.L347F	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	390	PAP-associated.				RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.L390L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACCTTGGGGACCTCTTACTGGG	0.371000														76			45		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13824396	13824396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:13824396G>A	uc003jfd.2	-	38	6533	c.6491C>T	c.(6490-6492)aCc>aTc	p.T2164I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2164	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCCCAAGGTCCGAAGAAC	0.418000									Kartagener syndrome					31			4		0	0	0.009096	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911305	230911305	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:230911305C>T	uc002vqd.2	-	3	996	c.537G>A	c.(535-537)ctG>ctA	p.L179L	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.L179L|SLC16A14_uc002vqf.3_Silent_p.L179L	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	179						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAGGTACTTCAGCAGCACAG	0.587000														43			40		0	0	0.011902	0	0
DNAH3	55567	broad.mit.edu	37	16	21048133	21048133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:21048133G>A	uc010vbe.2	-	34	4988	c.4988C>T	c.(4987-4989)cCa>cTa	p.P1663L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1663					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCTGGCTTTGGAAGAACAAC	0.328000														30			20		0	0	0.012319	0	0
TMEM30A	55754	broad.mit.edu	37	6	75969155	75969155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:75969155G>A	uc003phw.2	-	4	871	c.593C>T	c.(592-594)gCt>gTt	p.A198V	TMEM30A_uc003phx.2_Missense_Mutation_p.A162V	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	198						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTTCAAAGCGATAGGTAT	0.343000														52			21		0	0	0.008871	0	0
BRCA2	675	broad.mit.edu	37	13	32918773	32918773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:32918773C>T	uc001uub.1	+	11	7147	c.6920C>T	c.(6919-6921)tCa>tTa	p.S2307L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2307					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAGGCTTCAAAAAGCACT	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				16			9		0	0	0.006214	0	0
NOS2	4843	broad.mit.edu	37	17	26089889	26089889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:26089889G>A	uc002gzu.3	-	21	2999	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	912	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCCCGGGAGGAGCTGATGGA	0.632000														10			6		0	0	0.021553	0	0
WDR53	348793	broad.mit.edu	37	3	196281221	196281221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:196281221C>T	uc003fwt.3	-	3	1409	c.938G>A	c.(937-939)gGc>gAc	p.G313D		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Homo sapiens WD repeat domain 53 (WDR53), mRNA.	313										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TAAAATGTTGCCATGTTCTTC	0.393000														80			33		0	0	0.019004	0	0
C2CD3	26005	broad.mit.edu	37	11	73759367	73759367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:73759367G>A	uc001ouu.2	-	27	5605	c.5378C>T	c.(5377-5379)cCc>cTc	p.P1793L	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1793						centrosome		p.P1793L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAAGGAAAAGGGACTGTATAT	0.418000														5			5		0	0	0.021553	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:140996386C>T	uc004fbt.3	+	3	3520	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	MAGEC1_uc010nsl.2_Missense_Mutation_p.R133C|MAGEC1_uc022cfi.1_Missense_Mutation_p.R725C	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1066	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCCTCGTTACGAATT	0.493000										HNSCC(15;0.026)				51			64		0	0	0.014410	0	0
CHSY1	22856	broad.mit.edu	37	15	101719038	101719038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:101719038G>A	uc021sxt.1	-	2	1440	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CHSY1_uc010usd.2_Missense_Mutation_p.R50C	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	322					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATATCTTGCGGCTCAGCATG	0.468000														37			23		0	0	0.021523	0	0
NUP85	79902	broad.mit.edu	37	17	73214302	73214302	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:73214302C>T	uc002jng.1	+	6	758	c.498C>T	c.(496-498)ctC>ctT	p.L166L	NUP85_uc010wrv.1_Silent_p.L120L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	166					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TCCTCCATCTCCTTGACTGGG	0.527000														44			33		0	0	0.012213	0	0
ALS2CL	259173	broad.mit.edu	37	3	46716164	46716164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:46716164G>A	uc003cqa.2	-	20	2514	c.2321C>T	c.(2320-2322)aCg>aTg	p.T774M	ALS2CL_uc003cpx.2_Missense_Mutation_p.T121M|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.T289M|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.T774M	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	774					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGGTAGAGCGTGAAGAGCTC	0.567000														58			21		0	0	0.008871	0	0
C9orf86	55684	broad.mit.edu	37	9	139733721	139733722	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:139733721_139733722GG>AA	uc004cjj.1	+	11	2001_2002	c.1544_1545GG>AA	c.(1543-1545)agg>aAA	p.R515K	C9orf86_uc004cji.1_Missense_Mutation_p.R514K|C9orf86_uc004cjk.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.R399K|C9orf86_uc004cjn.1_Missense_Mutation_p.R308K	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	514					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GCTCCCACGAGGACCGCAGCAC	0.658000														13			5		0	0	0.004672	0	0
KATNB1	10300	broad.mit.edu	37	16	57785893	57785893	+	Silent	SNP	T	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:57785893T>G	uc002eml.1	+	7	932	c.558T>G	c.(556-558)ccT>ccG	p.P186P		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	186	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CTGAGTTCCCTGGTCACACGG	0.637000														28			10		0	0	0.008291	0	0
NPNT	255743	broad.mit.edu	37	4	106859538	106859538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:106859538C>T	uc011cfd.2	+	5	769	c.556C>T	c.(556-558)Cct>Tct	p.P186S	NPNT_uc011cfc.2_Missense_Mutation_p.P173S|NPNT_uc011cfe.2_Missense_Mutation_p.P186S|NPNT_uc003hya.3_Missense_Mutation_p.P156S|NPNT_uc011cff.2_Missense_Mutation_p.P156S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	156	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTGCCCATCCCCTGGCCTGCA	0.522000														30			29		0	0	0.037714	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755166	6755166	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:6755166G>A	uc002mft.3	-	4	851	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SH2D3A_uc010xjg.2_Silent_p.F97F	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	219					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAGGCAGTTCGAAGGAGGGTG	0.657000														225			88		0	0	0.014410	0	0
WSCD2	9671	broad.mit.edu	37	12	108626526	108626526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:108626526G>A	uc001tms.3	+	6	1742	c.998G>A	c.(997-999)aGa>aAa	p.R333K	WSCD2_uc001tmt.3_Missense_Mutation_p.R333K|WSCD2_uc001tmu.3_Missense_Mutation_p.R81K	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	333						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCATGGACAGAAGGTTCCTG	0.582000														37			13		0	0	0.020292	0	0
PSD	5662	broad.mit.edu	37	10	104174684	104174684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104174684C>T	uc001kvg.1	-	3	1587	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D354N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	354					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCTCATCGTCGTCCTCATCC	0.667000														55			33		0	0	0.015359	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715716	170715716	+	Silent	SNP	G	A	A	rs148414372		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:170715716G>A	uc003fhe.1	-	10	1860	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	U1_uc021xhg.1_5'Flank|SLC2A2_uc003fhf.1_Silent_p.F344F|SLC2A2_uc011bpu.1_Silent_p.F390F	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	517					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TAGCTCCTAGGAATTTCATTT	0.398000														85			22		0	0	0.016522	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041860	51041860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr22:51041860C>T	uc003bmx.3	+	2	497	c.380C>T	c.(379-381)tCc>tTc	p.S127F	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.S100F|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	127	JNK-binding domain (JBD).				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTATCCCCTCCCCTTCCGTG	0.697000														4			9		0	0	0.006214	0	0
HGF	3082	broad.mit.edu	37	7	81381466	81381466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:81381466C>T	uc003uhl.3	-	4	760	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	HGF_uc003uhm.3_Missense_Mutation_p.E194K|HGF_uc003uhn.1_Missense_Mutation_p.E199K|HGF_uc003uho.1_Missense_Mutation_p.E194K|HGF_uc003uhp.3_Missense_Mutation_p.E199K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.E199K(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACAGACTTCGTAGCGTACC	0.468000														61			26		0	0	0.034045	0	0
OR5M9	390162	broad.mit.edu	37	11	56230826	56230826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:56230826G>A	uc010rjj.2	-	0	52	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R18H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCTCCTGACGACAGGTCAGC	0.428000														14			12		0	0	0.020292	0	0
CCNA1	8900	broad.mit.edu	37	13	37006837	37006838	+	Missense_Mutation	DNP	GG	AA	AA	rs113565588	byFrequency	TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:37006837_37006838GG>AA	uc001uvr.4	+	0	429_430	c.79_80GG>AA	c.(79-81)gga>AAa	p.G27K	CCNA1_uc010teo.2_Intron|CCNA1_uc010abq.3_Intron|CCNA1_uc010abp.3_Intron|CCNA1_uc001uvs.4_Missense_Mutation_p.G27K|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	27					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.E26K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGGAAGGACCGGGGCTC	0.545000														14			5		0	0	0.004672	0	0
WIZ	58525	broad.mit.edu	37	19	15538239	15538239	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15538239A>T	uc002nbc.3	-	3	1180	c.1157T>A	c.(1156-1158)aTg>aAg	p.M386K	WIZ_uc002nba.4_Missense_Mutation_p.M253K|WIZ_uc002nbb.4_Missense_Mutation_p.M212K	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1069						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGTCACGCCCATTTGCCGCAG	0.642000														35			17		0	0	0.007413	0	0
THEMIS	387357	broad.mit.edu	37	6	128222074	128222074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:128222074C>T	uc011ebt.2	-	0	153	c.4G>A	c.(4-6)Gca>Aca	p.A2T	THEMIS_uc021zfa.1_Missense_Mutation_p.A2T|THEMIS_uc010kfb.3_Intron	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	2	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGTGATAATGCCATTGCTATG	0.502000														49			36		0	0	0.023175	0	0
SSR2	6746	broad.mit.edu	37	1	155984846	155984846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:155984846G>A	uc001fmx.3	-	3	349	c.269C>T	c.(268-270)tCc>tTc	p.S90F	SSR2_uc001fmv.3_5'Flank|SSR2_uc010pgw.2_Missense_Mutation_p.S109F	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	90					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	p.S90S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACAGTGTGGGAGACATTGCT	0.498000														24			16		0	0	0.033300	0	0
SGSH	6448	broad.mit.edu	37	17	78188523	78188523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:78188523G>A	uc002jxz.4	-	3	484	c.397C>T	c.(397-399)Ccg>Tcg	p.P133S	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.P133S|SGSH_uc010wue.1_Silent_p.T144T	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	133					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGTCAAACGGGTACACGGTC	0.597000														30			26		0	0	0.034045	0	0
MIR563	693148	broad.mit.edu	37	3	15915345	15915345	+	RNA	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:15915345C>T	uc021wtp.1	+	0		c.68C>T								Homo sapiens microRNA 563 (MIR563), microRNA.																		ACATACGTTTCCCTGGTAGCC	0.388000														44			9		0	0	0.006214	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319448	71319448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:71319448G>A	uc021tkr.1	-	0	376	c.376C>T	c.(376-378)Cca>Tca	p.P126S	FTSJD1_uc010cga.3_Missense_Mutation_p.P126S|FTSJD1_uc002ezy.4_Missense_Mutation_p.P126S|FTSJD1_uc002ezz.4_Missense_Mutation_p.P126S	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	126						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAATAAGTGGAAAGCTGCAC	0.378000														47			19		0	0	0.010504	0	0
TOX2	84969	broad.mit.edu	37	20	42694499	42694499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:42694499C>T	uc010ggo.3	+	6	1148	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	TOX2_uc002xle.4_Missense_Mutation_p.P328S|TOX2_uc010ggp.3_Missense_Mutation_p.P328S|TOX2_uc002xlf.4_Missense_Mutation_p.P352S|TOX2_uc010zwk.2_Missense_Mutation_p.P248S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGGGCCTCCCCTGCCAGCCT	0.697000														69			21		0	0	0.012319	0	0
SLA2	84174	broad.mit.edu	37	20	35269716	35269716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:35269716C>T	uc002xfv.3	-	1	446	c.23G>A	c.(22-24)aGa>aAa	p.R8K	SLA2_uc002xfu.3_Missense_Mutation_p.R8K	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	8					B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding	p.R7K(1)		endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CAGAGATTTTCTTCTGCTGGG	0.557000														60			25		0	0	0.027356	0	0
CD101	9398	broad.mit.edu	37	1	117564359	117564359	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:117564359C>T	uc010oxb.1	+	6	2240	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	CD101_uc009whd.3_Silent_p.L728L|CD101_uc010oxc.1_Silent_p.L728L|CD101_uc010oxd.1_Silent_p.L666L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	728	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTAAAGATCCTGGAGATGGA	0.393000														15			12		0	0	0.020292	0	0
TAOK2	9344	broad.mit.edu	37	16	29998830	29998831	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:29998830_29998831GG>AA	uc010bzm.2	+	14	3293_3294	c.3258_3259GG>AA	c.(3256-3261)cggggc>cgAAgc	p.G1087S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.G967S|TAOK2_uc002dva.2_Missense_Mutation_p.G1080S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.G907S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1080					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGTGCGCCGGGGCATATCTCG	0.693000														71			37		0	0	0.004672	0	0
FMO2	2327	broad.mit.edu	37	1	171173094	171173094	+	Missense_Mutation	SNP	C	T	T	rs145420492		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:171173094C>T	uc001ghk.1	+	5	835	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	FMO2_uc010pmd.1_Missense_Mutation_p.R20C	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	240					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.R240C(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCCGGTTTCGTTCTATGCT	0.488000														34			16		0	0	0.007413	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:34102840G>A	uc001zhi.3	+	70	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_uc010bar.3_Missense_Mutation_p.R3391Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000														29			17		0	0	0.033300	0	0
ITGA11	22801	broad.mit.edu	37	15	68631854	68631854	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr15:68631854G>A	uc010bib.3	-	10	1347	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	ITGA11_uc002ari.3_Silent_p.N420N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	420					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATGCACCATGGTTCTTGAGCT	0.622000														18			9		0	0	0.004482	0	0
SLC24A3	57419	broad.mit.edu	37	20	19698203	19698203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr20:19698203C>T	uc002wrl.3	+	15	1948	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGATCTACTCCGTAGGCTTG	0.502000														204			91		0	0	0.014410	0	0
PIK3CB	5291	broad.mit.edu	37	3	138417774	138417774	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:138417774C>T	uc011bmq.2	-	10	1745	c.1745G>A	c.(1744-1746)tGg>tAg	p.W582*	PIK3CB_uc011bmn.2_Nonsense_Mutation_p.W94*|PIK3CB_uc011bmo.2_Nonsense_Mutation_p.W28*|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.W169*	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	582	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAGTTTATTCCACTTGATTGA	0.373000														302			110		0	0	0.014410	0	0
CD300LB	124599	broad.mit.edu	37	17	72522183	72522183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:72522183C>T	uc002jkx.2	-	1	198	c.185G>A	c.(184-186)aGa>aAa	p.R62K	CD300LB_uc010wqz.1_Missense_Mutation_p.R62K	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	25	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CTCTGGGGCTCTCACAGACTC	0.572000														117			44		0	0	0.014410	0	0
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	T	T	rs146552050		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:7960190C>T	uc010rbi.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418000														20			16		0	0	0.006122	0	0
WNK2	65268	broad.mit.edu	37	9	96055255	96055255	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:96055255C>T	uc004ati.1	+	22	5619	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	WNK2_uc011lud.1_Silent_p.F1836F|WNK2_uc004atj.3_Silent_p.F1836F|WNK2_uc004atk.3_Silent_p.F1473F|WNK2_uc004atl.1_Silent_p.F430F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1873					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGGCGACTTCGTGAAGAAGG	0.706000														29			6		0	0	0.021553	0	0
HUWE1	10075	broad.mit.edu	37	X	53631699	53631699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:53631699G>A	uc004dsp.3	-	25	2995	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	865					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCCCCCAGGGGATTCAATG	0.572000														6			6		0	0	0.029380	0	0
TAOK1	57551	broad.mit.edu	37	17	27802791	27802791	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:27802791T>C	uc002hdz.2	+	4	500	c.306_splice	c.e4+2	p.W102_splice	TAOK1_uc010wbe.2_Splice_Site_p.W102_splice	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	102	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAGCATGGGTTGGTATTTGT	0.338000														26			6		0	0	0.021553	0	0
OR13C3	138803	broad.mit.edu	37	9	107298400	107298400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:107298400G>A	uc004bcb.1	-	0	695	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GGCCATATTTGATATCACCAT	0.398000														60			22		0	0	0.014323	0	0
MUC4	4585	broad.mit.edu	37	3	195516830	195516830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:195516830C>T	uc021xjp.1	-	1	1777	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E423K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	546					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCCTGGTTCCCCTATTGCT	0.547000														146			66		0	0	0.014410	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763658	15763658	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:15763658C>T	uc010xok.2	+	8	1061	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F3_uc010xol.2_Silent_p.L337L|CYP4F3_uc002nbj.3_Silent_p.L337L|CYP4F3_uc010xom.2_Silent_p.L188L|CYP4F3_uc002nbk.3_Silent_p.L337L|CYP4F3_uc010xon.2_Silent_p.L47L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	337					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGTGGTCTCTCCTGGGTCC	0.597000											OREG0007254	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		48			18		0	0	0.033300	0	0
OR5H15	403274	broad.mit.edu	37	3	97887904	97887904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:97887904G>A	uc011bgu.2	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AATGGCATATGATCGCTATGT	0.373000														72			24		0	0	0.009535	0	0
LCE1E	353135	broad.mit.edu	37	1	152759990	152759990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:152759990G>A	uc021ozg.1	+	0	215	c.215G>A	c.(214-216)gGa>gAa	p.G72E	LCE1E_uc001fan.3_Missense_Mutation_p.G72E	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	72	Cys-rich.				keratinization			p.G72G(1)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCTGGGGGAGGTGGCTGC	0.682000														71			32		0	0	0.012213	0	0
SUFU	51684	broad.mit.edu	37	10	104357021	104357021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr10:104357021G>A	uc001kvy.2	+	6	1072	c.881G>A	c.(880-882)gGc>gAc	p.G294D	SUFU_uc001kvw.2_Missense_Mutation_p.G294D|SUFU_uc001kvx.3_Missense_Mutation_p.G294D|SUFU_uc009xxe.2_Non-coding_Transcript|SUFU_uc009xxf.2_Non-coding_Transcript	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	294					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATCTGCATCGGCACACAGCCC	0.617000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			4		0	0	0.009096	0	0
ATG9B	285973	broad.mit.edu	37	7	150718391	150718391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:150718391G>A	uc011kvc.2	-	4	923	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	283					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGGAGGACCAGCAGC	0.622000														68			20		0	0	0.012319	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885592	89885592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:89885592G>A	uc001pdf.4	+	5	845	c.736G>A	c.(736-738)Gga>Aga	p.G246R	NAALAD2_uc009yvx.3_Missense_Mutation_p.G246R|NAALAD2_uc009yvy.3_Missense_Mutation_p.G246R|NAALAD2_uc001pdd.2_Missense_Mutation_p.G246R|NAALAD2_uc001pde.3_Missense_Mutation_p.G246R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	246					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGCCCAGAGAGGAAATGTGTT	0.458000														28			22		0	0	0.016522	0	0
KTN1	3895	broad.mit.edu	37	14	56104545	56104545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr14:56104545C>T	uc001xcb.3	+	12	2067	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	KTN1_uc001xcc.3_Missense_Mutation_p.H589Y|KTN1_uc001xcd.3_Missense_Mutation_p.H589Y|KTN1_uc001xce.3_Missense_Mutation_p.H589Y|KTN1_uc010trb.2_Missense_Mutation_p.H589Y|KTN1_uc001xcf.1_Missense_Mutation_p.H589Y	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	589					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGCAGTTCCATTCCCAGAT	0.373000			T	RET	papillary thryoid									42			38		0	0	0.027894	0	0
MUC16	94025	broad.mit.edu	37	19	9061597	9061597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:9061597G>A	uc002mkp.3	-	2	26053	c.25849C>T	c.(25849-25851)Cca>Tca	p.P8617S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8619	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAAATTTGGAGGTGAACTG	0.483000														67			23		0	0	0.018920	0	0
STBD1	8987	broad.mit.edu	37	4	77227925	77227925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr4:77227925G>A	uc003hka.3	+	0	747	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM47E_uc003hjy.3_Intron|FAM47E_uc011cbv.2_Intron|STBD1_uc011cbw.2_Intron	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	1					carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			TCTCAGCCATGGGCGCCGTCT	0.701000														19			21		0	0	0.016522	0	0
WNK2	65268	broad.mit.edu	37	9	96079878	96079878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:96079878C>T	uc004ati.1	+	28	6704	c.6704C>T	c.(6703-6705)cCc>cTc	p.P2235L	WNK2_uc011lud.1_Missense_Mutation_p.P2198L|WNK2_uc004atj.3_Missense_Mutation_p.P2198L|WNK2_uc004atk.3_Missense_Mutation_p.P1723L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2235					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGGTCATTCCCGGAGCCGCC	0.657000														38			18		0	0	0.008871	0	0
GFRAL	389400	broad.mit.edu	37	6	55263984	55263984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:55263984C>T	uc003pcm.1	+	6	1045	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	320						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGATTATCCAACCCTGTCT	0.294000														23			3		0	0	0.009096	0	0
ZNF492	57615	broad.mit.edu	37	19	22847002	22847002	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:22847002C>T	uc002nqw.3	+	3	775	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGGAAAGCCTATAATGAGA	0.373000														14			3		0	0	0.004672	0	0
COQ5	84274	broad.mit.edu	37	12	120942760	120942760	+	Silent	SNP	C	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr12:120942760C>A	uc001tyn.3	-	4	728	c.708G>T	c.(706-708)ctG>ctT	p.L236L	COQ5_uc010szj.2_Silent_p.L162L	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	236					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTGGTTTCAGCACCCGAT	0.473000														60			21		1.42536e-11	1.45769e-11	0.024334	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52800411	52800411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:52800411G>A	uc001cto.3	+	14	3813	c.3641G>A	c.(3640-3642)gGa>gAa	p.G1214E	ZFYVE9_uc001ctp.3_Missense_Mutation_p.G1155E	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	1214					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCCTCTTCTGGATACCTTGCC	0.403000														66			20		0	0	0.016522	0	0
ASPM	259266	broad.mit.edu	37	1	197112160	197112160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:197112160G>A	uc001gtu.3	-	2	1479	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	ASPM_uc001gtv.3_Nonsense_Mutation_p.Q408*|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	408					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATGTTTGCTGAGATGTACAC	0.338000														49			22		0	0	0.012319	0	0
ZNF670	93474	broad.mit.edu	37	1	247201207	247201207	+	Silent	SNP	A	G	G			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:247201207A>G	uc001icd.2	-	3	931	c.714T>C	c.(712-714)agT>agC	p.S238S	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.S237S	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCGAAGAGAACTGGAAAAAG	0.388000														41			13		0	0	0.020292	0	0
OR11A1	26531	broad.mit.edu	37	6	29394788	29394788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:29394788G>A	uc003nmg.3	-	0	722	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTCCAAAAGGAATAGTGAGG	0.507000														30			13		0	0	0.016723	0	0
NALCN	259232	broad.mit.edu	37	13	101717760	101717761	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr13:101717760_101717761GG>AA	uc001vox.1	-	39	4788_4789	c.4599_4600CC>TT	c.(4597-4602)gtcctg>gtTTtg	p.1533_1534VL>VL		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1533						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTACCTCAGGACATCATGGA	0.540000														98			32		0	0	0.004672	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810890	106810890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr11:106810890C>T	uc009yxn.1	-	3	892	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	GUCY1A2_uc001pjg.1_Missense_Mutation_p.E168K|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E168K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	168					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.E167*(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTTGAATTTCCTCAAACTTC	0.318000														23			11		0	0	0.010729	0	0
HAUS5	23354	broad.mit.edu	37	19	36106232	36106232	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36106232C>T	uc002oam.1	+	5	480	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	143					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCATACGCTCCGAGATCCCA	0.652000														13			8		0	0	0.003080	0	0
LMTK3	114783	broad.mit.edu	37	19	49000828	49000828	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:49000828C>T	uc002pjk.3	-	11	3585	c.3585G>A	c.(3583-3585)ccG>ccA	p.P1195P		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCTGGCTCTCGGGGGCGCTG	0.756000														16			4		0	0	0.009096	0	0
GP1BA	2811	broad.mit.edu	37	17	4836270	4836270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:4836270C>T	uc021tnz.1	+	1	446	c.371C>T	c.(370-372)tCc>tTc	p.S124F	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.S124F	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	124										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTGGACGTCTCCTTCAACCGG	0.607000														87			8		0	0	0.006214	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764220	83764220	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:83764220T>A	uc003uhz.3	-	1	475	c.160A>T	c.(160-162)Agc>Tgc	p.S54C		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	54	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TAACTGGAGCTGTTGGCCAAG	0.398000														57			12		0	0	0.024245	0	0
INVS	27130	broad.mit.edu	37	9	103035345	103035345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr9:103035345G>A	uc004bap.1	+	11	1983	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	INVS_uc010mta.2_Missense_Mutation_p.D495N|INVS_uc011lve.1_Missense_Mutation_p.D495N|INVS_uc004bao.1_Missense_Mutation_p.D591N|INVS_uc004baq.1_Missense_Mutation_p.D495N|INVS_uc004bar.1_Missense_Mutation_p.D495N|INVS_uc010mtb.1_Missense_Mutation_p.D265N	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.D591F(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGAGAAAAGATGCTGCTGC	0.522000														75			28		0	0	0.024334	0	0
SAMSN1	64092	broad.mit.edu	37	21	15873018	15873018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr21:15873018C>T	uc002yju.1	-	5	682	c.600G>A	c.(598-600)atG>atA	p.M200I	SAMSN1_uc010gky.1_Missense_Mutation_p.M32I|SAMSN1_uc002yjv.1_Missense_Mutation_p.M268I	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	200	SH3.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCCACATCCCCATTGGTGTTT	0.378000														76			25		0	0	0.021523	0	0
VAC14	55697	broad.mit.edu	37	16	70778390	70778390	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:70778390G>A	uc002ezm.3	-	12	1722	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	VAC14_uc010cfw.3_Silent_p.L254L|VAC14_uc002ezn.3_Silent_p.L53L|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	488					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCTGGCCTGGAGGTCAGGGC	0.647000														56			26		0	0	0.030593	0	0
HCN1	348980	broad.mit.edu	37	5	45262146	45262146	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr5:45262146G>A	uc003jok.3	-	7	2575	c.2550C>T	c.(2548-2550)atC>atT	p.I850I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	850						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTTCGGGGGGATGGCTCCCG	0.637000														84			16		0	0	0.028581	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249119065	249119065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:249119065C>T	uc001iew.1	-	1	622	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SH3BP5L_uc001iev.1_5'UTR|MIR3124_uc021pmd.1_5'Flank	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	24										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTCATCCTCTACAACTTCA	0.612000														121			44		0	0	0.013114	0	0
ADRA1A	148	broad.mit.edu	37	8	26627945	26627945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:26627945C>T	uc003xfc.1	-	1	1558	c.1122G>A	c.(1120-1122)atG>atA	p.M374I	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.M374I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.M374I|ADRA1A_uc003xfh.1_Missense_Mutation_p.M374I	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	374					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GGATGCGCACCATGTCCTTGT	0.552000														65			42		0	0	0.036044	0	0
DCX	1641	broad.mit.edu	37	X	110544956	110544956	+	Silent	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chrX:110544956G>A	uc004epd.3	-	6	1457	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	DCX_uc011msv.2_Silent_p.L434L|DCX_uc004epe.3_Silent_p.L348L|DCX_uc004epf.3_Silent_p.L353L|DCX_uc004epg.3_Silent_p.L348L	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	429					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCAAGGACAGAGGCAGGTAC	0.413000														21			29		0	0	0.037714	0	0
PXDNL	137902	broad.mit.edu	37	8	52320801	52320801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr8:52320801G>A	uc003xqu.4	-	16	3484	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATAAGCCGCGGAGAAGAGCCT	0.572000														90			72		0	0	0.014410	0	0
RBM42	79171	broad.mit.edu	37	19	36124003	36124004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:36124003_36124004CC>TT	uc002oan.3	+	5	609_610	c.533_534CC>TT	c.(532-534)gcc>gTT	p.A178V	RBM42_uc002oap.3_Splice_Site_p.A148_splice|RBM42_uc002oaq.3_Missense_Mutation_p.A149V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	178						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTGCAGCAGCCGGCCCCCGCC	0.683000														131			39		0	0	0.004672	0	0
ARGFX	503582	broad.mit.edu	37	3	121305189	121305189	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr3:121305189C>T	uc003eef.3	+	4	785	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TATTCCAAATCATAGAACTGT	0.453000														113			42		0	0	0.027894	0	0
KCNH6	81033	broad.mit.edu	37	17	61611504	61611504	+	Silent	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:61611504C>T	uc002jay.3	+	4	1013	c.933C>T	c.(931-933)ttC>ttT	p.F311F	KCNH6_uc002jax.1_Silent_p.F311F|KCNH6_uc010wpl.2_Silent_p.F188F|KCNH6_uc010wpm.2_Silent_p.F311F|KCNH6_uc002jaz.1_Silent_p.F311F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|signal transduction			p.F311F(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACATCATGTTCGTCGTGGACA	0.587000														163			102		0	0	0.014410	0	0
C1orf168	199920	broad.mit.edu	37	1	57185864	57185864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr1:57185864G>A	uc001cym.4	-	17	2519	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	705										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTAGAATTACGACATATCACT	0.269000														24			7		0	0	0.029380	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					48			36		0	0	0.030466	0	0
KCNG3	170850	broad.mit.edu	37	2	42720488	42720488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr2:42720488C>T	uc002rsn.3	-	0	750	c.154G>A	c.(154-156)Gac>Aac	p.D52N	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Missense_Mutation_p.D52N	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	52						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TCGTAGTCGTCGCACACCTCG	0.682000														11			6		0	0	0.029380	0	0
WDR46	9277	broad.mit.edu	37	6	33248675	33248675	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr6:33248675delT	uc003ods.3	-	10	1562	c.1205delA	c.(1204-1206)catfs	p.H402fs	WDR46_uc011dra.2_Frame_Shift_Del_p.H348fs	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	402										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCTGCTCCATGGGGCAGGGT	0.632													---	77	---	---	31	---					
GDPD3	79153	broad.mit.edu	37	16	30119700	30119700	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr16:30119700delG	uc002dwp.3	-	7	840	c.761delC	c.(760-762)tcgfs	p.S254fs	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Frame_Shift_Del_p.S192fs	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	254	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCACCATTTCGAAACCACAGC	0.567													---	170	---	---	90	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	-	-	rs66598941		TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr17:1631341_1631343delGAG	uc002ftj.2	+	0	3217_3219	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_uc002fth.2_5'UTR|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													---	4	---	---	4	---					
DLL3	10683	broad.mit.edu	37	19	39989869	39989870	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A29C-06A-21D-A197-08	TCGA-EE-A29C-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96889106-1c89-4a7f-9bfb-604522b19eae	e3c858e9-aa74-4b17-8957-cda08c26e10e	g.chr19:39989869_39989870insT	uc002olx.2	+	1	165_166	c.107_108insT	c.(106-108)tctfs	p.S36fs	DLL3_uc010egq.3_Frame_Shift_Ins_p.S36fs|DLL3_uc002olw.2_Frame_Shift_Ins_p.S36fs	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	36					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGATCCACTCTTTCGGGCCGG	0.733													---	3	---	---	4	---					
