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
BRD1	23774	broad.mit.edu	37	22	50167966	50167966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr22:50167966G>A	uc011arg.2	-	12	3253	c.3239C>T	c.(3238-3240)gCc>gTc	p.A1080V	BRD1_uc011arf.2_Missense_Mutation_p.A757V|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.A1031V|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.A1162V	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	1031					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GATCCGCACGGCCTTCCGGAT	0.572000														26			64		0	0	0.014410	0	0
CDC14A	8556	broad.mit.edu	37	1	100949997	100949997	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:100949997G>A	uc001dtf.2	+	10	1615	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.R318Q|CDC14A_uc001dte.4_Missense_Mutation_p.R376Q|CDC14A_uc009wed.1_Missense_Mutation_p.R83Q|CDC14A_uc001dtg.4_Missense_Mutation_p.R376Q|CDC14A_uc009wee.3_Missense_Mutation_p.R376Q	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	376					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R376Q(2)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACATGGAACGATTTGGAGAG	0.343000														31			18		0	0	0.007413	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	A	A	rs121913384		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:21971096C>A	uc003zpk.3	-	1	568	c.262G>T	c.(262-264)Gag>Tag	p.E88*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.E88*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G102V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	88			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(30)|p.E88E(6)|p.E88K(6)|p.V82_G89>G(2)|p.E88D(2)|p.V82_E88del(2)|p.D84_F90del(2)|p.E87K(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.G143V(1)|p.R87fs*59(1)|p.E88A(1)|p.E88G(1)|p.A68fs*3(1)|p.E88V(1)|p.0(1)|p.R137fs*48(1)|p.R87L(1)|p.R87Q(1)|p.R87W(1)|p.R87fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				35			92		5.0909e-33	7.16497e-33	0.014410	1	0
CACNA1E	777	broad.mit.edu	37	1	181765865	181765865	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:181765865G>A	uc009wxt.3	+	46	6465	c.6270G>A	c.(6268-6270)aaG>aaA	p.K2090K	CACNA1E_uc001gow.3_Silent_p.K2047K|CACNA1E_uc009wxs.3_Silent_p.K2028K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2090					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						AAGAGCGAAAGCATCTTCTCT	0.572000														16			16		0	0	0.004990	0	0
D28359	0	broad.mit.edu	37	13	52035102	52035102	+	RNA	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr13:52035102C>T	uc001vfo.1	+	0		c.2007C>T								Homo sapiens cDNA FLJ34612 fis, clone KIDNE2014170, highly similar to 40S RIBOSOMAL PROTEIN S4, X ISOFORM.																		GTCGCACCATCCGCTACACTG	0.438000														19			5		0	0	0.014758	0	0
AK7	122481	broad.mit.edu	37	14	96949519	96949519	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:96949519T>A	uc001yfn.2	+	15	1981	c.1937T>A	c.(1936-1938)gTg>gAg	p.V646E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	646	Glu-rich.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGGAGGCCGTGGAGATGGCA	0.592000														14			6		0	0	0.021553	0	0
MEGF8	1954	broad.mit.edu	37	19	42880268	42880268	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:42880268G>A	uc002otl.4	+	40	8313	c.7678G>A	c.(7678-7680)Gcc>Acc	p.A2560T	MEGF8_uc002otm.4_Missense_Mutation_p.A2168T|MEGF8_uc002otn.4_Missense_Mutation_p.A221T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2627	Pro-rich.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGCCCGGCGCCAACGGCTC	0.627000														21			11		0	0	0.008291	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														27			27		0	0	0.027356	0	0
LPO	4025	broad.mit.edu	37	17	56342209	56342209	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:56342209C>T	uc002ivt.3	+	9	1709	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	LPO_uc010wns.2_Missense_Mutation_p.R406C|LPO_uc010dcp.3_Missense_Mutation_p.R382C|LPO_uc010dcq.3_Missense_Mutation_p.R136C|LPO_uc010dcr.3_Missense_Mutation_p.R28C	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	465					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R465H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTTCGCCTTCCGCTTTGGCCA	0.517000														56			22		0	0	0.010504	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138432306	138432306	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:138432306G>A	uc003vuf.3	-	11	1422	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	ATP6V0A4_uc003vug.3_Missense_Mutation_p.P395L|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.P395L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	395					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGGTGTAGGGGGCTGCGGA	0.577000														20			13		0	0	0.016723	0	0
POM121L12	285877	broad.mit.edu	37	7	53103886	53103886	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:53103886C>T	uc003tpz.3	+	0	538	c.522C>T	c.(520-522)acC>acT	p.T174T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	174										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCCCTGCACCCGGGAGACTC	0.716000														26			14		0	0	0.024245	0	0
UPF1	5976	broad.mit.edu	37	19	18968188	18968188	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:18968188C>T	uc002nkg.3	+	14	2336	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	UPF1_uc002nkf.3_Silent_p.A676A|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	687					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGAAGGCGGCCAAGGCCGGGC	0.647000														44			28		0	0	0.010818	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				90			72		9.35569e-46	1.32765e-45	0.014410	1	0
ZNF239	8187	broad.mit.edu	37	10	44052772	44052772	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr10:44052772G>A	uc001jaw.4	-	1	1409	c.756C>T	c.(754-756)atC>atT	p.I252I	ZNF239_uc001jax.4_Silent_p.I252I|ZNF239_uc009xmj.3_Silent_p.I252I|ZNF239_uc009xmk.3_Silent_p.I252I|ZNF239_uc021pph.1_Silent_p.I252I	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGCCTGATGGATAAGCAGAC	0.493000														89			48		0	0	0.014410	0	0
SLIT2	9353	broad.mit.edu	37	4	20599960	20599960	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:20599960C>T	uc003gpr.1	+	32	3838	c.3634C>T	c.(3634-3636)Cgg>Tgg	p.R1212W	SLIT2_uc003gps.1_Missense_Mutation_p.R1204W	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1212	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGAACTCTATCGGGGGCGTGT	0.473000														81			52		0	0	0.014410	0	0
RPL7	6129	broad.mit.edu	37	8	74203428	74203428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:74203428G>A	uc003xzg.3	-	5	620	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	200					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TCTTTGAAGCGTTTTCCAACA	0.373000														22			11		0	0	0.010729	0	0
ZNF28	7576	broad.mit.edu	37	19	53303978	53303978	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:53303978G>A	uc002qad.3	-	3	1277	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	ZNF28_uc002qac.3_Missense_Mutation_p.R320C|ZNF28_uc010eqe.3_Missense_Mutation_p.R320C|ZNF28_uc021uza.1_Missense_Mutation_p.R321C	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAAGCCTACGATGGCGTGCA	0.383000														40			38		0	0	0.017118	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175806	71175806	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:71175806C>T	uc003tvy.3	+	9	1561	c.1561C>T	c.(1561-1563)Ctc>Ttc	p.L521F	WBSCR17_uc003tvz.3_Missense_Mutation_p.L220F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	521	Ricin B-type lectin.					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)				CACCACACTCCTCCCTGACAC	0.617000														55			28		0	0	0.006320	0	0
HNF1B	6928	broad.mit.edu	37	17	36064997	36064997	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:36064997G>A	uc002hok.4	-	5	1487	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	HNF1B_uc021tvu.1_Silent_p.L192L|HNF1B_uc010wdi.2_Silent_p.L396L|HNF1B_uc021tvv.1_Silent_p.L422L|HNF1B_uc021tvw.1_Silent_p.L396L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	422					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TATGGTGGGAGAGGCTGTGGA	0.468000														254			169		0	0	0.014410	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579467	140579467	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140579467G>A	uc003liy.3	+	0	120	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	40	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.M39V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATGCAGAGCGGGAGTT	0.527000														64			35		0	0	0.015359	0	0
OR6B3	150681	broad.mit.edu	37	2	240984604	240984604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:240984604C>T	uc010zoe.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTCTTAAATTCCTTATTCCTC	0.478000														25			92		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158596698	158596698	+	Silent	SNP	A	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:158596698A>G	uc001fst.1	-	40	5963	c.5764T>C	c.(5764-5766)Ttg>Ctg	p.L1922L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1922					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCAATTGCAACTTCCAAGCA	0.468000														119			70		0	0	0.014410	0	0
OR9G4	283189	broad.mit.edu	37	11	56511057	56511057	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:56511057G>A	uc010rjo.2	-	0	231	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F76V(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GATTGCCAATGAAAAAGTACA	0.413000														41			34		0	0	0.021022	0	0
ADH1C	126	broad.mit.edu	37	4	100260777	100260777	+	RNA	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:100260777C>T	uc021xqi.1	-	7		c.1145G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTATTTTTTCAAAAGGTAAA	0.368000														38			22		0	0	0.012319	0	0
COQ6	51004	broad.mit.edu	37	14	74422197	74422197	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:74422197C>T	uc001xph.3	+	2	423	c.342C>T	c.(340-342)gcC>gcT	p.A114A	COQ6_uc001xpe.3_Intron|COQ6_uc010tuk.2_Silent_p.A89A|COQ6_uc010tum.2_Silent_p.A114A|COQ6_uc010tul.2_Intron|COQ6_uc010tun.2_Intron|COQ6_uc021rwk.1_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	114					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide 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			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GATACAGAGCCTTTCGGCGAA	0.458000														57			48		0	0	0.014410	0	0
EPHX1	2052	broad.mit.edu	37	1	226019497	226019497	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:226019497C>T	uc001hpk.3	+	2	281	c.201C>T	c.(199-201)atC>atT	p.I67I	EPHX1_uc001hpl.3_Silent_p.I67I	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	67					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					ACCAGAGGATCGATAAGTTCC	0.488000														42			27		0	0	0.006320	0	0
CASC5	57082	broad.mit.edu	37	15	40901081	40901081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:40901081C>T	uc010bbs.1	+	4	333	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Nonsense_Mutation_p.R58*|CASC5_uc010bbt.1_Nonsense_Mutation_p.R58*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	58	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAACTCTCGTCGAGTCAGCTT	0.313000														29			24		0	0	0.024334	0	0
CSNK1D	1453	broad.mit.edu	37	17	80213335	80213335	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:80213335G>A	uc002kej.3	-	2	643	c.306C>T	c.(304-306)ctC>ctT	p.L102L	CSNK1D_uc002kei.3_Silent_p.L102L|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	102	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGACGGTTTTGAGGCTGAATT	0.542000														78			36		0	0	0.023175	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842008	8842008	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:8842008C>T	uc010xkg.2	+	0	618	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTGCTGATCCTAATGCTCC	0.572000														52			38		0	0	0.021022	0	0
RDH16	8608	broad.mit.edu	37	12	57348854	57348854	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:57348854C>T	uc001smi.4	-	1	580	c.408G>A	c.(406-408)gtG>gtA	p.V136V	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	136					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCAACAAGTTCACGTCCAGTA	0.587000														35			33		0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179431635	179431635	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:179431635G>A	uc021vsy.1	-	274	71745	c.71520C>T	c.(71518-71520)aaC>aaT	p.N23840N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.N17535N|TTN_uc021vta.1_Silent_p.N17468N|TTN_uc021vtb.1_Silent_p.N17343N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24767	Fibronectin type-III 73.						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)			TATCTGGACGGTTCCAACAGA	0.413000														17			45		0	0	0.011902	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481738	140481738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140481738C>T	uc003lio.3	+	0	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.657000														71			55		0	0	0.014410	0	0
LAMA3	3909	broad.mit.edu	37	18	21489122	21489122	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr18:21489122A>G	uc002kuq.3	+	54	7107	c.7021A>G	c.(7021-7023)Aag>Gag	p.K2341E	LAMA3_uc002kur.3_Missense_Mutation_p.K2285E|LAMA3_uc002kus.4_Missense_Mutation_p.K732E|LAMA3_uc002kut.4_Missense_Mutation_p.K676E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2341	Domain II and I.				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)	AACAGTGAATAAGTTAACCAA	0.373000														36			22		0	0	0.012319	0	0
CRMP1	1400	broad.mit.edu	37	4	5843034	5843034	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:5843034C>T	uc003gis.3	-	8	1242	c.1153_splice	c.e8+1	p.G385_splice	CRMP1_uc003giq.3_Splice_Site_p.G271_splice|CRMP1_uc003gir.3_Splice_Site_p.G266_splice	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	271					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGGCTGCATACCTTTCTTCCT	0.627000														123			90		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166149	140166149	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140166149C>A	uc003lhb.2	+	0	274	c.274C>A	c.(274-276)Cgc>Agc	p.R92S	PCDHAC2_uc003lha.2_Missense_Mutation_p.R92S|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567000														63			57		3.76628e-20	5.25742e-20	0.014410	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776565	31776565	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:31776565G>C	uc001zfq.3	-	10	1806	c.1713C>G	c.(1711-1713)agC>agG	p.S571R	OTUD7A_uc001zfr.3_Missense_Mutation_p.S578R	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	571						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding	p.G570C(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACTCCTCCTTGCTGCCCTTGC	0.692000														17			11		0	0	0.016723	0	0
COL5A1	1289	broad.mit.edu	37	9	137622145	137622145	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:137622145G>A	uc004cfe.3	+	6	1370	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	330	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCTGGGAAGGAAGAGGACGT	0.617000														18			39		0	0	0.023175	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726674	25726674	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:25726674C>T	uc003nfc.3	-	0	117	c.82G>A	c.(82-84)Gta>Ata	p.V28I	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	28					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATCCGGCCTACGGGAAACTGC	0.547000														42			37		0	0	0.021022	0	0
MXRA5	25878	broad.mit.edu	37	X	3228149	3228149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chrX:3228149G>A	uc004crg.4	-	6	8252	c.8095C>T	c.(8095-8097)Cgt>Tgt	p.R2699C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2699	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGCCTCACGAACCGTGAGG	0.597000														6			32		0	0	0.017118	0	0
THBS3	7059	broad.mit.edu	37	1	155175012	155175012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:155175012G>A	uc001fix.3	-	2	487	c.382C>T	c.(382-384)Cga>Tga	p.R128*	THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_Nonsense_Mutation_p.R128*|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_Nonsense_Mutation_p.R90*	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	128	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCGGAGTCGCAGGAGAACT	0.622000														85			19		0	0	0.010504	0	0
FPR1	2357	broad.mit.edu	37	19	52250217	52250217	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:52250217T>G	uc021uyn.1	-	2	177	c.31A>C	c.(31-33)Atc>Ctc	p.I11L	FPR1_uc002pxq.3_Missense_Mutation_p.I11L|FPR1_uc021uyo.1_Missense_Mutation_p.I11L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	11			I -> T (in dbSNP:rs5030878).		G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCTCCAGAGATGTTCGTGGGG	0.502000														10			13		0	0	0.013537	0	0
STL	7955	broad.mit.edu	37	6	125233728	125233728	+	RNA	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:125233728C>T	uc003pzq.3	-	6		c.1006G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		tcacgatattcccccaggtct	0.428000			T	ETV6	B-ALL									0			2		0	0	0.004672	0	0
OR4F6	390648	broad.mit.edu	37	15	102346044	102346044	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:102346044G>A	uc010utr.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGCCTGATGGGAAATCTCCTC	0.483000														150			109		0	0	0.014410	0	0
MCTP2	55784	broad.mit.edu	37	15	95019952	95019952	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:95019952G>A	uc002btj.3	+	20	2563	c.2498G>A	c.(2497-2499)cGa>cAa	p.R833Q	MCTP2_uc010boj.3_Missense_Mutation_p.R562Q|MCTP2_uc010bok.3_Missense_Mutation_p.R778Q|MCTP2_uc002btl.3_Missense_Mutation_p.R421Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	833					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R833Q(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAAGCTTCGAAATCCCTAT	0.363000														47			29		0	0	0.012213	0	0
FREM2	341640	broad.mit.edu	37	13	39343808	39343808	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr13:39343808C>T	uc001uwv.3	+	3	5813	c.5504C>T	c.(5503-5505)gCc>gTc	p.A1835V	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1835	Calx-beta 1.				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)		CAGACCAGGGCCACATGGCGA	0.532000														49			13		0	0	0.016723	0	0
MDN1	23195	broad.mit.edu	37	6	90368015	90368015	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:90368015G>A	uc003pnn.1	-	89	15212	c.15096C>T	c.(15094-15096)tcC>tcT	p.S5032S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5032					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGCCCACAGGAGGCATGCT	0.567000														129			54		0	0	0.014410	0	0
SPINK5	11005	broad.mit.edu	37	5	147486618	147486618	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:147486618C>T	uc003lox.2	+	16	1571	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SPINK5_uc010jgs.1_Missense_Mutation_p.R472W|SPINK5_uc010jgr.2_Missense_Mutation_p.R481W|SPINK5_uc003low.2_Missense_Mutation_p.R500W|SPINK5_uc003loy.2_Missense_Mutation_p.R500W	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	500	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGAATTTCGGGACCAAGT	0.423000														51			39		0	0	0.008740	0	0
PLCH1	23007	broad.mit.edu	37	3	155241775	155241775	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:155241775G>A	uc021xge.1	-	9	1622	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	PLCH1_uc021xgd.1_Missense_Mutation_p.H449Y|PLCH1_uc021xgf.1_Missense_Mutation_p.H431Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	449					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)			TCCCCAAGGTGATAAGGCAAC	0.403000														94			75		0	0	0.014410	0	0
FUT9	10690	broad.mit.edu	37	6	96651941	96651941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:96651941G>A	uc003pop.4	+	2	1251	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	FUT9_uc021zcw.1_Missense_Mutation_p.E304K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	304					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GTATCTGAAGGAAGTCGACAA	0.378000														62			19		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38691132	38691132	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:38691132G>A	uc021yzh.1	+	2	519	c.410G>A	c.(409-411)aGg>aAg	p.R137K	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGAGGCAAGGGAAAGCCGA	0.313000														58			86		0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531671	140531671	+	Silent	SNP	T	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140531671T>G	uc003lir.3	+	0	1833	c.1833T>G	c.(1831-1833)ggT>ggG	p.G611G		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGCTCGGTCTGTTCGGCG	0.677000														37			4		0	0	0.021553	0	0
C16orf78	123970	broad.mit.edu	37	16	49430546	49430546	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:49430546G>A	uc002efr.3	+	3	650	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	203										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ACCTAAGATGGAAACCATGAG	0.552000														24			16		0	0	0.004990	0	0
TCF19	6941	broad.mit.edu	37	6	31127306	31127306	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:31127306C>T	uc003nss.3	+	1	584	c.60C>T	c.(58-60)acC>acT	p.T20T	CCHCR1_uc011dne.2_5'Flank|CCHCR1_uc003nsq.4_5'Flank|CCHCR1_uc003nsp.4_5'Flank|CCHCR1_uc003nsr.4_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.3_Silent_p.T20T	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	20					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						ATCTCTACACCTTCCACCCCC	0.682000														8			9		0	0	0.008291	0	0
CCT6P3	643180	broad.mit.edu	37	7	64529093	64529093	+	RNA	SNP	G	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:64529093G>C	uc003ttt.1	+	5		c.789G>C			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		ATAGGGAATTGACCCCTTTTC	0.333000														3			3		0	0	0.014758	0	0
KSR2	283455	broad.mit.edu	37	12	118199251	118199251	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:118199251G>A	uc001two.2	-	3	519	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	184					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCTCCGGGGGGCACACGGG	0.627000														49			34		0	0	0.015359	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949548	41949548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:41949548G>A	uc010skn.2	+	6	1359	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	PDZRN4_uc001rmq.4_Missense_Mutation_p.D193N|PDZRN4_uc009zjz.3_Missense_Mutation_p.D191N|PDZRN4_uc001rmr.3_Missense_Mutation_p.D78N	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	451	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.R450W(1)|p.R450R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGAGAAGGGGATCGGATTTT	0.408000														47			34		0	0	0.025465	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926629	130926629	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:130926629G>A	uc001uil.2	-	7	1433	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	RIMBP2_uc001uim.3_Missense_Mutation_p.S314F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	406	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGCTGGGCGGAGATCTGCGT	0.622000														24			21		0	0	0.010504	0	0
TXK	7294	broad.mit.edu	37	4	48078475	48078475	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:48078475C>T	uc003gxx.4	-	11	1268	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Silent_p.R81R	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	394	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CCAAACAATTCCTTGCCGCCT	0.333000														37			32		0	0	0.019004	0	0
MUC16	94025	broad.mit.edu	37	19	8993398	8993398	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:8993398C>T	uc002mkp.3	-	65	41895	c.41691G>A	c.(41689-41691)ctG>ctA	p.L13897L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L714L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13900	SEA 12.			Missing (in Ref. 3; AAK74120).	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						TGTCCCTGTCCAGTGTGTAGG	0.567000														70			33		0	0	0.023175	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268042	103268042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chrX:103268042C>T	uc004elr.3	-	0	215	c.191G>A	c.(190-192)cGa>cAa	p.R64Q		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	64					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ATGGCGCCCTCGCTTCCTCTG	0.637000														5			22		0	0	0.014323	0	0
MTMR1	8776	broad.mit.edu	37	X	149887149	149887149	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chrX:149887149C>T	uc004feh.1	+	3	464	c.329C>T	c.(328-330)cCa>cTa	p.P110L	MTMR1_uc011mya.1_Missense_Mutation_p.P8L|MTMR1_uc004feg.1_Missense_Mutation_p.P102L|MTMR1_uc004fei.3_Missense_Mutation_p.P102L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	102	GRAM.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTTTCCCAGGAGAATCA	0.358000														7			20		0	0	0.010504	0	0
PTPRC	5788	broad.mit.edu	37	1	198711436	198711436	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:198711436G>A	uc001gur.1	+	24	2811	c.2631G>A	c.(2629-2631)gtG>gtA	p.V877V	PTPRC_uc001gut.1_Silent_p.V716V	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	877	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAACAAAGTGGATGTTTATG	0.438000														74			55		0	0	0.014410	0	0
ACE	1636	broad.mit.edu	37	17	61562671	61562671	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:61562671G>A	uc002jau.2	+	12	2030	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	ACE_uc010ddu.2_Missense_Mutation_p.E483K|ACE_uc010wpj.2_Missense_Mutation_p.E92K|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.E92K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	666	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGTGGAACGAGTATGCCGA	0.562000														41			17		0	0	0.028581	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														47			3		0	0	0.004672	0	0
SAMD3	154075	broad.mit.edu	37	6	130530752	130530752	+	Splice_Site	SNP	A	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:130530752A>C	uc003qbw.3	-	5	598	c.270_splice	c.e5-1	p.D90_splice	SAMD3_uc003qbx.3_Splice_Site_p.D90_splice|SAMD3_uc010kfg.1_Splice_Site_p.D90_splice|SAMD3_uc003qby.3_Splice_Site_p.D90_splice|SAMD3_uc003qbz.1_Splice_Site_p.D49_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	90										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCATCCCTGTAACTAAGAAAG	0.468000														11			23		0	0	0.018920	0	0
WRN	7486	broad.mit.edu	37	8	31024688	31024688	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:31024688C>T	uc003xio.4	+	33	4921	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	WRN_uc010lvk.3_Missense_Mutation_p.S845F	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1378					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTCCCGGTTCTGAAGAGATC	0.378000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					32			15		0	0	0.024245	0	0
LPPR1	54886	broad.mit.edu	37	9	104071546	104071546	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:104071546G>C	uc004bbb.3	+	4	838	c.439G>C	c.(439-441)Gtg>Ctg	p.V147L	LPPR1_uc011lvi.2_Missense_Mutation_p.V123L|LPPR1_uc004bbc.3_Missense_Mutation_p.V147L|LPPR1_uc010mtc.3_Missense_Mutation_p.V131L	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	147						integral to membrane	catalytic activity										CGCCGGACAAGTGGTCACTGG	0.428000														14			34		0	0	0.015359	0	0
OR51E2	81285	broad.mit.edu	37	11	4703075	4703075	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:4703075G>A	uc001lzk.2	-	1	1111	c.867C>T	c.(865-867)atC>atT	p.I289I	OR51E2_uc021qcr.1_Silent_p.I289I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACCATAGATGATGGGATTGA	0.522000														36			30		0	0	0.007291	0	0
IPW	3653	broad.mit.edu	37	15	25331750	25331750	+	RNA	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:25331750C>T	uc001yyb.4	+	2		c.359C>T			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		CCGTCATCCTCGTCGAACTGA	0.468000														88			55		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	2	89327187	89327187	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:89327187C>T	uc021vkt.1	-	84		c.6446_splice	c.e84-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TCCATGGTTCCCTCTGGGTCC	0.557000														12			26		0	0	0.021523	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437391	138437391	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:138437391C>T	uc003vuf.3	-	9	1246	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	ATP6V0A4_uc003vug.3_Silent_p.K336K|ATP6V0A4_uc003vuh.3_Silent_p.K336K	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	336					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGTGCCCTCTTGATACGTG	0.602000														25			12		0	0	0.016723	0	0
DPYD	1806	broad.mit.edu	37	1	98144692	98144692	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:98144692G>A	uc001drv.3	-	7	946	c.809C>T	c.(808-810)aCt>aTt	p.T270I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	270					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTTTCAAAGTGCTAAGAGT	0.264000														7			3		0	0	0.014758	0	0
HUWE1	10075	broad.mit.edu	37	X	53620471	53620471	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chrX:53620471G>A	uc004dsp.3	-	31	3996	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	HUWE1_uc004dsn.3_Silent_p.F23F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1198					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						AGGCATCTAGGAATTCTCCTG	0.498000														1			24		0	0	0.021523	0	0
OR6C74	254783	broad.mit.edu	37	12	55641256	55641256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:55641256G>A	uc010spg.2	+	0	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R62Q(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTCTTCCTCCGAAATTTCTCA	0.383000														74			59		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38921496	38921496	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:38921496C>T	uc021wvy.1	-	18	3537	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SCN11A_uc010hhn.1_Missense_Mutation_p.G191E	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1113					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1113E(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)	CTTTCCAAATCCGAAGGCTAC	0.398000														18			17		0	0	0.004990	0	0
CR2	1380	broad.mit.edu	37	1	207640026	207640026	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:207640026G>A	uc001hfw.3	+	1	333	c.214G>A	c.(214-216)Gat>Aat	p.D72N	CR2_uc001hfv.3_Missense_Mutation_p.D72N|CR2_uc009xch.3_Missense_Mutation_p.D72N	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	72	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGACAAAGTGGATGGAACCTG	0.413000														49			23		0	0	0.018920	0	0
PCSK5	5125	broad.mit.edu	37	9	78638727	78638727	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:78638727G>A	uc004akc.2	+	3	1023	c.485G>A	c.(484-486)gGa>gAa	p.G162E	PCSK5_uc004ajy.2_Missense_Mutation_p.G162E|PCSK5_uc004ajz.3_Missense_Mutation_p.G162E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	162	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.T161T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGCTACACGGGAAAGAACATT	0.468000														15			42		0	0	0.007835	0	0
ZNF415	55786	broad.mit.edu	37	19	53611856	53611856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:53611856G>A	uc002qax.3	-	6	1935	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	ZNF415_uc010yds.2_Missense_Mutation_p.S481L|ZNF415_uc010ydt.2_Missense_Mutation_p.S481L|ZNF415_uc002qau.3_Missense_Mutation_p.S468L|ZNF415_uc002qav.3_Missense_Mutation_p.S493L|ZNF415_uc002qaw.3_Missense_Mutation_p.S481L|ZNF415_uc002qay.3_Missense_Mutation_p.S468L|ZNF415_uc002qaz.3_Missense_Mutation_p.S529L|ZNF415_uc002qba.3_Missense_Mutation_p.S251L			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGTTAGGCTTGAATGCACACT	0.433000														69			53		0	0	0.014410	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495408	20495408	+	RNA	SNP	G	A	A	rs2954587	by1000genomes	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:20495408G>A	uc001ytf.1	+	4		c.611G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTGTGTGAGGAAAATGAATC	0.388000														98			20		0	0	0.007413	0	0
PIGG	54872	broad.mit.edu	37	4	502700	502700	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:502700C>T	uc003gak.4	+	4	978	c.842C>T	c.(841-843)tCc>tTc	p.S281F	PIGG_uc003gaj.4_Missense_Mutation_p.S281F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S148F|PIGG_uc003gal.4_Missense_Mutation_p.S192F|PIGG_uc011buw.2_Missense_Mutation_p.S159F|PIGG_uc003gam.3_Missense_Mutation_p.S192F|PIGG_uc003gan.3_Missense_Mutation_p.S192F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	281					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGGGCCTCCTCCACCGAGGAG	0.443000														42			34		0	0	0.012213	0	0
INADL	10207	broad.mit.edu	37	1	62594552	62594552	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:62594552G>A	uc001dab.3	+	40	5320	c.5206G>A	c.(5206-5208)Gat>Aat	p.D1736N	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.D520N	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1736	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCAACCTTTGGATGGGCTGTC	0.453000														91			59		0	0	0.014410	0	0
ZNF880	400713	broad.mit.edu	37	19	52887585	52887585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:52887585G>A	uc002pzc.3	+	3	801	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	ZNF880_uc021uyu.1_Missense_Mutation_p.R251Q|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	251					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						CTCTTCAATCGAATTTCACTC	0.403000														11			14		0	0	0.024245	0	0
AV4S1	0	broad.mit.edu	37	14	22671215	22671215	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:22671215C>T	uc021rpv.1	+	1	270	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		GATCCTGCACCGTGCTACCTT	0.502000														17			10		0	0	0.010729	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323607	44323607	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr21:44323607C>T	uc002zcm.3	+	2	551	c.485C>T	c.(484-486)tCt>tTt	p.S162F	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCCTCTGATTCTGAATCTGAT	0.522000														76			70		0	0	0.014410	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85165085	85165085	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:85165085G>A	uc002bkr.3	+	2	1885	c.1659G>A	c.(1657-1659)ttG>ttA	p.L553L	ZSCAN2_uc010bmz.1_Silent_p.L551L|ZSCAN2_uc010bna.3_Silent_p.L403L|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	553					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGCCCATTTGGGAGACAAGC	0.567000														77			56		0	0	0.014410	0	0
CLCN3	1182	broad.mit.edu	37	4	170601278	170601278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:170601278C>T	uc003ish.3	+	2	797	c.238C>T	c.(238-240)Cca>Tca	p.P80S	CLCN3_uc003isi.3_Missense_Mutation_p.P80S|CLCN3_uc011cka.2_Missense_Mutation_p.P80S|CLCN3_uc011cjz.2_Missense_Mutation_p.P63S|CLCN3_uc003isj.2_Missense_Mutation_p.P53S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	80					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGAACCAATTCCAGGTGTTGG	0.358000														22			23		0	0	0.021523	0	0
ZFP30	22835	broad.mit.edu	37	19	38126524	38126524	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:38126524G>A	uc002ogv.1	-	5	1434	c.918C>T	c.(916-918)gcC>gcT	p.A306A	ZFP30_uc002ogw.1_Silent_p.A306A|ZFP30_uc002ogx.1_Silent_p.A306A|ZFP30_uc010xtt.1_Silent_p.A305A	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACACAGAAAGGCCTGACCAC	0.463000														61			51		0	0	0.014410	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276755	15276755	+	Missense_Mutation	SNP	C	T	T	rs138265894	by1000genomes	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:15276755C>T	uc002nan.3	-	29	5586	c.5510G>A	c.(5509-5511)cGt>cAt	p.R1837H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1837					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)			CTCGCCAGTACGGTCAGTCCG	0.607000														28			11		0	0	0.010729	0	0
MKRN3	7681	broad.mit.edu	37	15	23811097	23811097	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:23811097C>T	uc001ywh.4	+	0	644	c.168C>T	c.(166-168)gcC>gcT	p.A56A	MKRN3_uc001ywi.3_Silent_p.A56A|MKRN3_uc010ayi.1_Silent_p.A56A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	56						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGCTGGGCCCCCTTCCCTG	0.687000														28			12		0	0	0.010729	0	0
MUC5B	727897	broad.mit.edu	37	11	1267510	1267510	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:1267510A>T	uc001lta.3	+	30	9459	c.9400A>T	c.(9400-9402)Atc>Ttc	p.I3134F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3134	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACGACCTGGATCCTCACAGA	0.657000														71			30		0	0	0.008361	0	0
WDR53	348793	broad.mit.edu	37	3	196281400	196281400	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:196281400G>A	uc003fwt.3	-	3	1230	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Homo sapiens WD repeat domain 53 (WDR53), mRNA.	253										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)		GCAGCAAATAGGATTCTGGGA	0.473000														61			38		0	0	0.025465	0	0
ARMC5	79798	broad.mit.edu	37	16	31476161	31476161	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:31476161C>T	uc010vfn.2	+	5	2226	c.2102C>T	c.(2101-2103)cCg>cTg	p.P701L	ARMC5_uc010vfo.2_Missense_Mutation_p.P638L|ARMC5_uc002ecc.3_Missense_Mutation_p.P606L|ARMC5_uc002eca.4_Missense_Mutation_p.P606L|ARMC5_uc002ecb.2_Missense_Mutation_p.P606L|ARMC5_uc010vfp.2_Missense_Mutation_p.P414L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	606							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACGATTGGCCGGCACCACGT	0.701000														11			11		0	0	0.016723	0	0
OR10T2	128360	broad.mit.edu	37	1	158368849	158368849	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:158368849G>A	uc010pih.2	-	0	408	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L135R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TTTTGTTTATGATGAGTGTGT	0.453000														62			41		0	0	0.014410	0	0
SSH2	85464	broad.mit.edu	37	17	27959023	27959023	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:27959023G>C	uc002heo.1	-	14	3108	c.3108C>G	c.(3106-3108)agC>agG	p.S1036R	SSH2_uc010wbh.1_Missense_Mutation_p.S1063R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1036					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGCTCTCCGCTCTTCTCAC	0.478000														65			48		0	0	0.014410	0	0
GPR137C	283554	broad.mit.edu	37	14	53066835	53066835	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:53066835C>T	uc001wzt.4	+	2	493	c.493C>T	c.(493-495)Cta>Tta	p.L165L	GPR137C_uc001wzu.4_Silent_p.L165L	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	165						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTCAGAATTCTACTGCATTT	0.333000														45			44		0	0	0.011902	0	0
SDK2	54549	broad.mit.edu	37	17	71348646	71348646	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:71348646G>A	uc010dfm.3	-	40	5724	c.5724C>T	c.(5722-5724)ttC>ttT	p.F1908F	SDK2_uc002jjt.4_Silent_p.F1048F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1908	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGGGTGCCGAAACCATAGT	0.647000														14			24		0	0	0.027356	0	0
LRP3	4037	broad.mit.edu	37	19	33695571	33695571	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:33695571C>T	uc010edh.3	+	3	381	c.288C>T	c.(286-288)tcC>tcT	p.S96S	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	96	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGGAGGAGTCCCACCAGTGCT	0.672000														68			48		0	0	0.014410	0	0
OR5B21	219968	broad.mit.edu	37	11	58275040	58275040	+	Missense_Mutation	SNP	G	A	A	rs140880239	by1000genomes	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:58275040G>A	uc010rki.2	-	0	539	c.539C>T	c.(538-540)cCc>cTc	p.P180L		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGGAGTGGGGGAATGTCACA	0.483000														25			16		0	0	0.024245	0	0
ZNF227	7770	broad.mit.edu	37	19	44739804	44739804	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:44739804C>T	uc002oyu.3	+	5	1426	c.1221C>T	c.(1219-1221)ccC>ccT	p.P407P	ZNF227_uc010xwu.2_Silent_p.P356P|ZNF227_uc002oyv.3_Silent_p.P407P|ZNF227_uc010xwv.2_Silent_p.P356P|ZNF227_uc010xww.2_Silent_p.P328P|ZNF227_uc002oyw.3_Silent_p.P379P|ZNF227_uc010ejh.3_Silent_p.P400P|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GTGAGAAGCCCTATAAATGTG	0.478000														29			28		0	0	0.027356	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922801	17922801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:17922801C>T	uc002nhl.1	+	2	1136	c.989C>T	c.(988-990)tCc>tTc	p.S330F	B3GNT3_uc010ebd.1_Missense_Mutation_p.S330F|B3GNT3_uc010ebe.1_Missense_Mutation_p.S330F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	330					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAACGCCTGTCCTCCTTTGAC	0.607000														113			57		0	0	0.014410	0	0
CLVS1	157807	broad.mit.edu	37	8	62212398	62212398	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:62212398C>T	uc003xuh.3	+	1	336	c.12C>T	c.(10-12)gtC>gtT	p.V4V	CLVS1_uc003xug.2_Silent_p.V4V|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	4					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGACCAGTCTCTCTTCTTC	0.463000														47			10		0	0	0.010729	0	0
ITIH1	3697	broad.mit.edu	37	3	52825798	52825798	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:52825798G>A	uc003dfs.3	+	22	2637	c.2607_splice	c.e22-1	p.R869_splice	ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.R727_splice|ITIH1_uc021wzg.1_Splice_Site_p.R581_splice|ITIH1_uc021wzh.1_Splice_Site_p.R581_splice|ITIH1_uc003dft.3_Splice_Site_p.G461_splice|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	869	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTCTGCACAGGGGTTTGCAAA	0.587000														21			9		0	0	0.004482	0	0
ABLIM3	22885	broad.mit.edu	37	5	148619383	148619383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:148619383C>T	uc003lpy.2	+	12	1387	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	ABLIM3_uc003lpz.1_Missense_Mutation_p.S379F|ABLIM3_uc003lqa.1_Missense_Mutation_p.S325F|ABLIM3_uc003lqb.3_Missense_Mutation_p.S317F|ABLIM3_uc003lqc.1_Missense_Mutation_p.S379F|ABLIM3_uc003lqd.1_Missense_Mutation_p.S317F|ABLIM3_uc003lqe.1_Missense_Mutation_p.S317F|ABLIM3_uc003lqf.3_Missense_Mutation_p.S317F	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	379					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACATAGACTCCCCCACCTAC	0.627000														56			36		0	0	0.021022	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886527	228886527	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:228886527C>T	uc002vpq.2	-	5	644	c.597G>A	c.(595-597)ctG>ctA	p.L199L	SPHKAP_uc002vpp.2_Silent_p.L199L|SPHKAP_uc010zlx.1_Silent_p.L199L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	199						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTCATCCTCCAGTTTCAAGA	0.463000														17			21		0	0	0.012319	0	0
PTPRC	5788	broad.mit.edu	37	1	198682180	198682180	+	Missense_Mutation	SNP	C	T	T	rs142046206		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:198682180C>T	uc001gur.1	+	11	1444	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	PTPRC_uc001gut.1_Missense_Mutation_p.L261F|PTPRC_uc009wzf.1_Missense_Mutation_p.L310F|PTPRC_uc021pgy.1_Missense_Mutation_p.L376F|PTPRC_uc010ppg.1_Missense_Mutation_p.L358F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	422	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAATTTTACCCTCTGTTATAT	0.333000														63			19		0	0	0.012319	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561731	45561731	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:45561731T>A	uc001zva.2	+	13	1629	c.1564T>A	c.(1564-1566)Tct>Act	p.S522T		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	522					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		ACAGTGGATTTCTGTAAGTGA	0.438000														17			17		0	0	0.028581	0	0
FGL1	2267	broad.mit.edu	37	8	17739657	17739657	+	Missense_Mutation	SNP	C	T	T	rs140117264		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:17739657C>T	uc003wye.3	-	4	911	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	FGL1_uc003wxx.3_Missense_Mutation_p.R32Q|FGL1_uc003wxy.3_Missense_Mutation_p.R32Q|FGL1_uc003wya.3_Missense_Mutation_p.R32Q|FGL1_uc003wyb.3_Missense_Mutation_p.R32Q	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	32	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GGCTCTGAGCCGCATCTGCTC	0.493000														47			23		0	0	0.021523	0	0
SH3TC1	54436	broad.mit.edu	37	4	8217959	8217959	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:8217959C>T	uc003gkv.4	+	5	704	c.603C>T	c.(601-603)acC>acT	p.T201T	SH3TC1_uc003gkw.4_Silent_p.T125T|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	201							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TAAGGCTGACCCACGAGAGCC	0.612000														20			18		0	0	0.004990	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914442	39914442	+	Missense_Mutation	SNP	C	T	T	rs34762911	byFrequency	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:39914442C>T	uc010xuz.2	+	18	2994	c.2669C>T	c.(2668-2670)tCt>tTt	p.S890F	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S831F|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S668F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	890					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCCAGGAGTCTGTCCCCCTG	0.577000														41			34		0	0	0.012213	0	0
CTR9	9646	broad.mit.edu	37	11	10794192	10794192	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:10794192T>C	uc001mja.3	+	19	2719	c.2570T>C	c.(2569-2571)cTt>cCt	p.L857P		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	857	Lys-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGAAACTTCTTAAAGAACAG	0.443000														20			15		0	0	0.028581	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599122	6599122	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:6599122C>T	uc002gdj.3	-	6	1066	c.978G>A	c.(976-978)ctG>ctA	p.L326L	SLC13A5_uc010clq.3_Silent_p.L283L|SLC13A5_uc002gdk.3_Silent_p.L309L|SLC13A5_uc010vtf.2_Silent_p.L326L|SLC13A5_uc002gdl.1_Silent_p.L308L	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	326						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACAGGATGACCAGCAGGAAGA	0.567000														19			83		0	0	0.014410	0	0
CIB3	117286	broad.mit.edu	37	19	16275623	16275623	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:16275623C>T	uc002nds.3	-	4	448	c.448G>A	c.(448-450)Gag>Aag	p.E150K	CIB3_uc010eae.3_Missense_Mutation_p.E89K|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.E101K	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	150	EF-hand 3.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGCACCTTCTCACATACCAGG	0.572000														36			32		0	0	0.009535	0	0
ECSIT	51295	broad.mit.edu	37	19	11623974	11623974	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:11623974G>A	uc002msb.3	-	3	769	c.635C>T	c.(634-636)cCc>cTc	p.P212L	ECSIT_uc010dyc.2_Missense_Mutation_p.P212L|ECSIT_uc010dyd.3_Missense_Mutation_p.P212L|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	212					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CACTGGGAAGGGGTTGACGTT	0.587000														42			25		0	0	0.016522	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163580	163580	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:163580C>T	uc003jak.2	+	10	2375	c.2325C>T	c.(2323-2325)agC>agT	p.S775S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	775					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATGCCAGGAGCCCCCCGGTCA	0.652000														26			17		0	0	0.028581	0	0
CDH8	1006	broad.mit.edu	37	16	61935342	61935342	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:61935342G>A	uc002eog.2	-	2	1243	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGATATACTTGATTTTTTTGC	0.378000														39			17		0	0	0.004990	0	0
KALRN	8997	broad.mit.edu	37	3	124438176	124438176	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:124438176C>T	uc003ehg.3	+	59	8947	c.8820C>T	c.(8818-8820)ccC>ccT	p.P2940P	KALRN_uc003ehk.3_Silent_p.P1243P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2939					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						GGCTGCAGCCCCATAATGGCA	0.532000														48			21		0	0	0.010504	0	0
HDAC9	9734	broad.mit.edu	37	7	18629971	18629971	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:18629971C>A	uc003sui.3	+	2	318	c.277C>A	c.(277-279)Ctt>Att	p.L93I	HDAC9_uc003sue.3_Missense_Mutation_p.L90I|HDAC9_uc011jyd.2_Missense_Mutation_p.L90I|HDAC9_uc003suh.3_Missense_Mutation_p.L90I|HDAC9_uc003suj.3_Missense_Mutation_p.L93I|HDAC9_uc011jya.2_Missense_Mutation_p.L132I|HDAC9_uc003sua.1_Missense_Mutation_p.L112I|HDAC9_uc003sud.2_Missense_Mutation_p.L90I|HDAC9_uc011jyc.2_Missense_Mutation_p.L93I|HDAC9_uc011jyb.2_Missense_Mutation_p.L90I|HDAC9_uc003suf.2_Missense_Mutation_p.L121I|HDAC9_uc010kud.2_Missense_Mutation_p.L93I|HDAC9_uc011jye.2_Missense_Mutation_p.L62I|HDAC9_uc011jyf.2_Missense_Mutation_p.L59I|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	90					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.L93I(3)|p.L90I(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAACAGGAACTTCTAGCCAT	0.433000														19			18		9.7654e-05	0.000134668	0.007413	1	0
BC128131	0	broad.mit.edu	37	19	23159477	23159477	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:23159477A>T	uc002nqz.1	-	1	496	c.470T>A	c.(469-471)aTt>aAt	p.I157N	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TCCAGTATGAATTCTCTTATA	0.363000														13			14		0	0	0.020292	0	0
GLRB	2743	broad.mit.edu	37	4	158057765	158057765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:158057765G>A	uc003ipj.2	+	4	644	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GLRB_uc021xtp.1_Missense_Mutation_p.E148K|GLRB_uc021xtq.1_Missense_Mutation_p.E148K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	148					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGCAAATGAAAAAAGTGC	0.393000														75			48		0	0	0.014410	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475273	140475273	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140475273C>T	uc003lil.3	+	0	1037	c.899C>T	c.(898-900)tCg>tTg	p.S300L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S300*(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCAAAATCGGGAGAACTG	0.413000														55			28		0	0	0.006320	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887014	9887014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr18:9887014C>T	uc002koi.4	+	1	987	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S	TXNDC2_uc002koh.4_Missense_Mutation_p.P113S|TXNDC2_uc021ugx.1_Missense_Mutation_p.P113S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	180	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGTGACATCCCCAAGGCCCC	0.567000														82			46		0	0	0.010771	0	0
DNAH5	1767	broad.mit.edu	37	5	13885323	13885323	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:13885323C>T	uc003jfd.2	-	18	2800	c.2758G>A	c.(2758-2760)Gga>Aga	p.G920R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	920	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)					TCAAAATTTCCTTCTTCTCTT	0.383000									Kartagener syndrome					30			11		0	0	0.010729	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567380	140567380	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140567380G>T	uc003liw.1	+	0	488	c.488G>T	c.(487-489)gGt>gTt	p.G163V		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	163	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGATGAAGGTCATAACAGT	0.398000														110			73		6.30617e-38	8.91202e-38	0.014410	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68028700	68028700	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:68028700C>T	uc001xjl.1	+	5	595	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	151						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCTGAAAAGCCATAATCAGC	0.468000														26			26		0	0	0.027356	0	0
KCNK9	51305	broad.mit.edu	37	8	140630869	140630869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:140630869C>T	uc003yvf.1	-	1	821	c.757G>A	c.(757-759)Gat>Aat	p.D253N	KCNK9_uc003yvg.1_Missense_Mutation_p.D253N|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	253						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCCGCTCATCCTCACTGTTC	0.597000														30			82		0	0	0.014410	0	0
HNF4G	3174	broad.mit.edu	37	8	76468232	76468232	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:76468232G>A	uc003yaq.3	+	6	790	c.520G>A	c.(520-522)Gct>Act	p.A174T	HNF4G_uc003yar.3_Missense_Mutation_p.A211T	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	174					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTGTTGAGAGCTCACGCAGG	0.313000														11			30		0	0	0.013726	0	0
KCNN3	3782	broad.mit.edu	37	1	154685944	154685944	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:154685944G>A	uc021pah.1	-	7	2254	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	KCNN3_uc001ffo.3_Missense_Mutation_p.S327F|KCNN3_uc001ffp.3_Missense_Mutation_p.S632F	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	637						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ACTCACCTTGGAAAGGTCCAC	0.552000														59			28		0	0	0.010818	0	0
OR6C1	390321	broad.mit.edu	37	12	55714500	55714500	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:55714500G>A	uc010spi.2	+	0	117	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATCACTGGGAACCTGACCC	0.408000														32			30		0	0	0.008361	0	0
PTPRR	5801	broad.mit.edu	37	12	71139839	71139839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:71139839G>A	uc001swi.2	-	5	1180	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	PTPRR_uc001swh.2_Nonsense_Mutation_p.Q11*|PTPRR_uc009zrs.3_Nonsense_Mutation_p.Q50*|PTPRR_uc010stq.2_Nonsense_Mutation_p.Q144*|PTPRR_uc010str.1_Nonsense_Mutation_p.Q105*	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	256					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGGAAAGCTGAAATCTTTCT	0.408000														15			10		0	0	0.006214	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484195	45484195	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:45484195G>A	uc001cnd.2	-	13	3717	c.3489C>T	c.(3487-3489)atC>atT	p.I1163I		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	1163							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGGTTGTCGATGAACTGGG	0.537000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			82		0	0	0.014410	0	0
WDR63	126820	broad.mit.edu	37	1	85595757	85595757	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:85595757A>C	uc001dkt.3	+	21	2685	c.2494A>C	c.(2494-2496)Aag>Cag	p.K832Q	WDR63_uc009wcl.3_Missense_Mutation_p.K793Q	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	832										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGAGCAAGAAAAGAAAGAAAT	0.338000														90			69		0	0	0.014410	0	0
TUBB8	347688	broad.mit.edu	37	10	93359	93359	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr10:93359C>T	uc001ifi.2	-	3	973	c.973G>A	c.(973-975)Gag>Aag	p.E325K		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	325					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCATCCACCTCCCTCATGGGC	0.522000														86			48		0	0	0.013114	0	0
PSMB5	5693	broad.mit.edu	37	14	23502818	23502818	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:23502818C>A	uc001wii.3	-	1	528	c.264G>T	c.(262-264)caG>caT	p.Q88H	PSMB5_uc001wij.3_Missense_Mutation_p.Q88H|PSMB5_uc010tni.2_5'UTR	NM_002797	NP_001124197	P28074	PSB5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 5 (PSMB5), transcript variant 1, mRNA.	88					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	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	TCTTCACCGTCTGGGAGGCAA	0.552000														21			23		3.01185e-09	4.17025e-09	0.021523	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140209955	140209955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140209955C>T	uc003lho.2	+	0	2306	c.2279C>T	c.(2278-2280)tCc>tTc	p.S760F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.S760F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	751					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTGTGCTCCGGGGAGGGC	0.612000														33			23		0	0	0.016522	0	0
NUMB	8650	broad.mit.edu	37	14	73783131	73783131	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:73783131C>T	uc001xny.1	-	6	522	c.202_splice	c.e6-1	p.E68_splice	NUMB_uc010aro.1_Splice_Site_p.E68_splice|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Splice_Site_p.E68_splice|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Splice_Site_p.E68_splice|NUMB_uc001xnz.1_Intron|NUMB_uc001xob.1_Intron|NUMB_uc001xod.1_Splice_Site_p.E68_splice|NUMB_uc001xoc.1_Splice_Site_p.E68_splice|NUMB_uc010ars.1_Intron|NUMB_uc001xof.1_Intron|NUMB_uc001xog.3_Intron|NUMB_uc001xoh.1_Intron	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	68	PID.			E -> Q (in Ref. 3; AAD27959).	axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACTTCCTTTCCTGGAGGAACA	0.413000														39			25		0	0	0.027356	0	0
WIF1	11197	broad.mit.edu	37	12	65461507	65461507	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:65461507G>A	uc001ssk.3	-	4	977	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	201	EGF-like 1.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GAACCCATCAGGACACTCGCA	0.522000			T	HMGA2	pleomorphic salivary gland adenoma									28			11		0	0	0.016723	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606542	47606542	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:47606542C>T	uc001cqv.1	+	1	337	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CYP4A22_uc009vyo.3_Missense_Mutation_p.R96C|CYP4A22_uc009vyp.3_Missense_Mutation_p.R96C	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	96						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAAAGTTCGTGTCCAGCT	0.502000														80			46		0	0	0.014410	0	0
C4orf40	401137	broad.mit.edu	37	4	71024045	71024045	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:71024045G>A	uc003hfa.4	+	4	149	c.76_splice	c.e4-1	p.D26_splice	C4orf40_uc003hfb.4_Splice_Site_p.D26_splice	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	26						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCTCCTTTAGGATGACAATGA	0.358000														83			37		0	0	0.019004	0	0
BMP2K	55589	broad.mit.edu	37	4	79768397	79768397	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:79768397C>T	uc003hlk.3	+	5	890	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.P242S	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	242	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGGAGGGAAACCCATCACCAC	0.378000														12			21		0	0	0.018920	0	0
C10orf71	118461	broad.mit.edu	37	10	50532573	50532573	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr10:50532573G>A	uc021pqb.1	+	0	1983	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	C10orf71_uc021pqa.1_Silent_p.E660E|C10orf71_uc021pqc.1_Silent_p.E661E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	661										endometrium(1)	1						GGGCTACAGAGAAAATGAAGA	0.552000														16			7		0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186670597	186670597	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:186670597G>A	uc002upl.3	+	16	16831	c.16831G>A	c.(16831-16833)Gaa>Aaa	p.E5611K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAAGTGGATGAAAATAAAGT	0.343000														12			29		0	0	0.007291	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052067	9052067	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:9052067G>A	uc003jek.2	-	19	3475	c.2763C>T	c.(2761-2763)atC>atT	p.I921I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	921	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGAACAGGAGGATGCACTGGC	0.592000														31			13		0	0	0.016723	0	0
TRERF1	55809	broad.mit.edu	37	6	42235936	42235936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:42235936C>T	uc003ose.2	-	4	1956	c.1393G>A	c.(1393-1395)Ggg>Agg	p.G465R	TRERF1_uc011duq.1_Missense_Mutation_p.G465R|TRERF1_uc003osb.2_Missense_Mutation_p.G304R|TRERF1_uc003osc.2_Missense_Mutation_p.G304R|TRERF1_uc003osd.2_Missense_Mutation_p.G465R	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	465	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGAGGCCCCATGTTGTTG	0.602000														82			28		0	0	0.009535	0	0
NIN	51199	broad.mit.edu	37	14	51223836	51223836	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr14:51223836G>A	uc001wyi.3	-	17	4103	c.3912C>T	c.(3910-3912)ttC>ttT	p.F1304F	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.F1304F|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.F1304F	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1304					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGCTGAGGAATGTTTCAG	0.428000			T	PDGFRB	MPD									62			50		0	0	0.014410	0	0
KALRN	8997	broad.mit.edu	37	3	124416470	124416470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:124416470C>T	uc003ehg.3	+	54	7857	c.7730C>T	c.(7729-7731)gCc>gTc	p.A2577V	KALRN_uc003ehk.3_Missense_Mutation_p.A880V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2576	Fibronectin type-III.				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						CGCCCCATTGCCCAGGAGAGA	0.522000														11			8		0	0	0.004482	0	0
OGT	8473	broad.mit.edu	37	X	70784520	70784520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chrX:70784520G>A	uc004eaa.2	+	18	2744	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.G826R|OGT_uc004eac.3_Missense_Mutation_p.G697R|OGT_uc004ead.3_Missense_Mutation_p.G455R	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	836					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTCAGTACGGGTTACCAGA	0.398000														3			26		0	0	0.021523	0	0
PIGK	10026	broad.mit.edu	37	1	77672386	77672386	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:77672386G>A	uc001dhk.3	-	2	223	c.178C>T	c.(178-180)Cga>Tga	p.R60*	PIGK_uc010orj.2_Intron|PIGK_uc009wbx.3_Intron|PIGK_uc001dhl.1_Nonsense_Mutation_p.R60*	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	60					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GCAACATGTCGATAATTAAAC	0.368000														78			44		0	0	0.014410	0	0
DEF8	54849	broad.mit.edu	37	16	90025426	90025426	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:90025426C>T	uc002fpn.2	+	5	693	c.560C>T	c.(559-561)cCc>cTc	p.P187L	DEF8_uc021tmu.1_Missense_Mutation_p.P126L|DEF8_uc002fpl.3_Missense_Mutation_p.P126L|DEF8_uc002fpm.3_Missense_Mutation_p.P126L|DEF8_uc002fpo.2_Missense_Mutation_p.P126L|DEF8_uc002fpp.2_Missense_Mutation_p.P116L|DEF8_uc021tmv.1_Missense_Mutation_p.P126L|DEF8_uc010vpq.2_Missense_Mutation_p.P66L|DEF8_uc010vpr.2_Missense_Mutation_p.P126L	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	187					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CTGCAGGACCCCAATGAGGAT	0.542000														89			28		0	0	0.008361	0	0
LIM2	3982	broad.mit.edu	37	19	51883515	51883515	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:51883515C>T	uc002pwl.2	-	5	631	c.587_splice	c.e5-1	p.G196_splice	LIM2_uc002pwm.2_Splice_Site_p.G154_splice	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	154					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TGTAGAAAATCCCTGCATGAG	0.537000														13			10		0	0	0.008291	0	0
C2orf89	129293	broad.mit.edu	37	2	85051283	85051283	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:85051283G>A	uc010ysl.2	-	5	1217	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	C2orf89_uc002sou.4_Silent_p.I327I	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	376						integral to membrane		p.I376M(2)|p.I327M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TTGGAGCAAAGATGGTGGACA	0.582000														4			19		0	0	0.008871	0	0
MLIP	90523	broad.mit.edu	37	6	54025545	54025545	+	Missense_Mutation	SNP	C	T	T	rs141526731	byFrequency	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:54025545C>T	uc011dxa.2	+	7	2480	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	MLIP_uc003pcf.2_Missense_Mutation_p.S805F|MLIP_uc003pcg.4_Missense_Mutation_p.S281F|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	281						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						cAGCATTCTTCTGATTCTCCT	0.338000														22			12		0	0	0.016723	0	0
MPO	4353	broad.mit.edu	37	17	56350985	56350985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:56350985C>T	uc002ivu.1	-	8	1588	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	471					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TTCCTCATGGCCGTTGGCCCC	0.572000														79			76		0	0	0.014410	0	0
CUX2	23316	broad.mit.edu	37	12	111785344	111785344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:111785344G>A	uc001tsa.2	+	21	3830	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGCGCCGGGAGATGTTGGT	0.652000														75			57		0	0	0.014410	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247149	142247149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:142247149G>A	uc003vyd.4	-	1	332	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGTCCCCCCGCTCTGTGCGC	0.572000														44			21		0	0	0.012319	0	0
SYT9	143425	broad.mit.edu	37	11	7334696	7334696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:7334696G>A	uc001mfe.3	+	2	805	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	190						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCAAAAACAGGAACAGTTGAC	0.413000														26			13		0	0	0.013537	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409271	59409271	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:59409271A>T	uc003xtm.4	-	2	863	c.800T>A	c.(799-801)tTg>tAg	p.L267*		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	267					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAAGGTGGACAAAGTGTCATT	0.507000									Neonatal Giant Cell Hepatitis					116			166		0	0	0.014410	0	0
TRIM67	440730	broad.mit.edu	37	1	231339639	231339639	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:231339639G>A	uc009xfn.1	+	5	1603	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	521	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACTGCAGCTGGAGAAATGCTG	0.672000														16			10		0	0	0.013537	0	0
BORA	79866	broad.mit.edu	37	13	73305505	73305505	+	Silent	SNP	T	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr13:73305505T>A	uc010aen.1	+	2	612	c.465T>A	c.(463-465)gcT>gcA	p.A155A	BORA_uc010thq.1_5'UTR|BORA_uc001viv.1_Silent_p.A80A|BORA_uc010thr.1_Intron	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	Homo sapiens bora, aurora kinase A activator (BORA), mRNA.	80					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ATCGTCAAGCTTTATACTTAA	0.338000														25			40		0	0	0.027894	0	0
FAM188B	84182	broad.mit.edu	37	7	30821777	30821777	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:30821777C>T	uc003tbt.3	+	2	445	c.368C>T	c.(367-369)tCa>tTa	p.S123L	FAM188B_uc010kwe.3_Missense_Mutation_p.S94L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	123										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATGACCTTTCAGATGAAGAT	0.383000														20			6		0	0	0.021553	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552686	173552686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:173552686C>T	uc001giz.2	-	5	1022	c.599G>A	c.(598-600)gGa>gAa	p.G200E	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	200					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCGAAAATTTCCAAAAAAAAT	0.279000														33			27		0	0	0.021523	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351543	42351543	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:42351543C>A	uc010xwe.2	+	1	130	c.47C>A	c.(46-48)tCt>tAt	p.S16Y	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.S16Y	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	16					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCCTTAGACTCTGCCCCCTGG	0.627000														58			44		1.61004e-24	2.25669e-24	0.014410	1	0
VARS	7407	broad.mit.edu	37	6	31749631	31749631	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:31749631G>A	uc003nxe.3	-	18	2763	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	780					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGCCTTGCTGGAGACTGATCT	0.617000														200			146		0	0	0.014410	0	0
XKR4	114786	broad.mit.edu	37	8	56270377	56270377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:56270377C>T	uc003xsf.3	+	1	978	c.946C>T	c.(946-948)Cca>Tca	p.P316S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	316						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAAGTGCTCCACAGCTGGT	0.468000														28			15		0	0	0.024245	0	0
RNF17	56163	broad.mit.edu	37	13	25435510	25435510	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr13:25435510C>T	uc001upr.3	+	26	3920	c.3879C>T	c.(3877-3879)ctC>ctT	p.L1293L	RNF17_uc010tdd.1_Silent_p.L1152L|RNF17_uc010tde.2_Silent_p.L1289L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.L1232L|RNF17_uc010aac.3_Silent_p.L491L|RNF17_uc010aad.3_Silent_p.L345L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1293					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTGTCAGCTCCATAATACCA	0.284000														136			79		0	0	0.014410	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708479	37708479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:37708479C>T	uc004aag.1	+	3	387	c.343C>T	c.(343-345)Cga>Tga	p.R115*	FRMPD1_uc004aah.1_Nonsense_Mutation_p.R115*	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	115	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCCTGGGAACGAGCAGTCGA	0.448000														110			12		0	0	0.010729	0	0
WRN	7486	broad.mit.edu	37	8	31000192	31000192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:31000192C>T	uc003xio.4	+	26	4072	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L	WRN_uc010lvk.3_Missense_Mutation_p.P562L	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1095					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATCAAGTACCAGTTGAATTA	0.239000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					40			26		0	0	0.012213	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909492	156909492	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:156909492G>C	uc001fqo.3	-	35	4864	c.3824C>G	c.(3823-3825)cCa>cGa	p.P1275R	ARHGEF11_uc010phu.2_Missense_Mutation_p.P691R|ARHGEF11_uc001fqn.3_Missense_Mutation_p.P1315R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1275					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCTGCTCTGGCCGTTCCCC	0.612000														15			25		0	0	0.021523	0	0
PDE5A	8654	broad.mit.edu	37	4	120427082	120427082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:120427082C>T	uc003idh.3	-	16	2350	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PDE5A_uc003idf.3_Missense_Mutation_p.R690Q|PDE5A_uc003idg.3_Missense_Mutation_p.R680Q	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	732	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.G733delG(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318000														23			11		0	0	0.010729	0	0
GPR4	2828	broad.mit.edu	37	19	46094942	46094942	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:46094942G>A	uc002pcm.3	-	1	1128	c.183C>T	c.(181-183)atC>atT	p.I61I	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.I61I	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	61						integral to plasma membrane	G-protein coupled receptor activity	p.S60S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGTCGGCGATGCTGAGGT	0.647000														47			30		0	0	0.009535	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754042	140754042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140754042C>T	uc003ljy.2	+	0	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P131L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	131	Cadherin 1.				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)			GACAATACACCCCGATTCTTA	0.443000														49			38		0	0	0.025465	0	0
IGSF10	285313	broad.mit.edu	37	3	151165385	151165385	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:151165385T>G	uc011bod.2	-	3	2384	c.2384A>C	c.(2383-2385)gAt>gCt	p.D795A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	795			D -> N (in dbSNP:rs58583961).		cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTGAGGAATCGTCTTCTTC	0.488000														58			30		0	0	0.008361	0	0
CPEB4	80315	broad.mit.edu	37	5	173317642	173317643	+	Missense_Mutation	DNP	CG	GT	GT			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:173317642_173317643CG>GT	uc003mcs.4	+	0	2312_2313	c.906_907CG>GT	c.(904-909)ggcggt>ggGTgt	p.G303C	CPEB4_uc010jju.2_Missense_Mutation_p.G303C|CPEB4_uc010jjv.3_Missense_Mutation_p.G303C|CPEB4_uc011dfg.2_Missense_Mutation_p.G303C|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	303	Poly-Gly.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGAGCCCGGGCGGTGGTGGATA	0.579000														109			54		0	0	0.004672	0	0
DDR2	4921	broad.mit.edu	37	1	162731078	162731078	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:162731078T>G	uc001gcf.3	+	9	1398	c.933T>G	c.(931-933)agT>agG	p.S311R	DDR2_uc001gcg.3_Missense_Mutation_p.S311R	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	311					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTGAAGCCAGTGAGTGGGAAC	0.522000														30			14		0	0	0.020292	0	0
NECAB1	64168	broad.mit.edu	37	8	91937824	91937824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:91937824C>T	uc011lgg.2	+	6	750	c.556C>T	c.(556-558)Cga>Tga	p.R186*		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.	186					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATCAAGCCGCCGAGTCCAGAG	0.453000														15			24		0	0	0.021523	0	0
IRGQ	126298	broad.mit.edu	37	19	44096256	44096256	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:44096256G>A	uc002oww.2	-	1	1912	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	IRGQ_uc010eiv.2_Silent_p.H598H	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	598	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGACGCCGTGAGCCGCTC	0.706000														59			7		0	0	0.003080	0	0
SBF1	6305	broad.mit.edu	37	22	50903030	50903030	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr22:50903030C>T	uc003blh.3	-	13	1764	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	SBF1_uc011arx.2_Silent_p.K187K|SBF1_uc003bli.2_Silent_p.K524K	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	523					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACCCTGCATCTTGGCTGCAG	0.692000														10			45		0	0	0.013114	0	0
ANKRD12	23253	broad.mit.edu	37	18	9281083	9281083	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr18:9281083C>T	uc002knv.3	+	12	6412	c.6148C>T	c.(6148-6150)Ctt>Ttt	p.L2050F	ANKRD12_uc002knw.3_Missense_Mutation_p.L2027F|ANKRD12_uc002knx.3_Missense_Mutation_p.L2027F	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	2050						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTATGTTCCCCTTGTTGATGT	0.418000														93			35		0	0	0.023175	0	0
MARCH11	441061	broad.mit.edu	37	5	16067654	16067654	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:16067654G>A	uc003jfo.2	-	3	1348	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	MARCH11_uc010itw.1_Missense_Mutation_p.R135W	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	379						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GGCCTCATCCGATTGAACAGG	0.478000														97			74		0	0	0.014410	0	0
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr7:143826661C>T	uc011kua.2	+	0	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F152F(4)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532000														132			115		0	0	0.014410	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929996	32929996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr15:32929996C>T	uc001zgy.1	+	11	3744	c.3022C>T	c.(3022-3024)Cct>Tct	p.P1008S	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P819S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P819S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	1008					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCCAAAACATCCTATCGGAAA	0.353000														15			11		0	0	0.008291	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531680	140531680	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:140531680C>T	uc003lir.3	+	0	1842	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	614	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G614S(1)|p.F613F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTGTTCGGCGTGTGGGCGC	0.667000														40			4		0	0	0.003080	0	0
MLL	4297	broad.mit.edu	37	11	118376065	118376065	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:118376065G>A	uc001pta.3	+	26	9472	c.9449G>A	c.(9448-9450)aGc>aAc	p.S3150N	MLL_uc001ptb.3_Missense_Mutation_p.S3153N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3150					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCTTCTGCTAGCAAAGGATTG	0.473000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									17			168		0	0	0.014410	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002723	193002723	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr3:193002723C>T	uc011bsq.2	-	26	3206	c.3206G>A	c.(3205-3207)cGa>cAa	p.R1069Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1069					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GATGGGTTTTCGAAATGGCTT	0.378000														18			15		0	0	0.020292	0	0
LRP1B	53353	broad.mit.edu	37	2	140995774	140995774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:140995774C>T	uc002tvj.1	-	88	14479	c.13507G>A	c.(13507-13509)Gat>Aat	p.D4503N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4503					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)		TCGTTGTGATCATGATCTACC	0.353000										TSP Lung(27;0.18)				11			26		0	0	0.007291	0	0
LAYN	143903	broad.mit.edu	37	11	111426015	111426015	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:111426015G>A	uc001plr.1	+	6	1018	c.682_splice	c.e6+1	p.E228_splice	LAYN_uc001plp.1_Splice_Site_p.E220_splice|LAYN_uc010rwg.1_Splice_Site_p.E75_splice|LAYN_uc010rwh.2_Splice_Site_p.E76_splice	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	228						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGAAAGTAGAGGTATCTACAA	0.413000														19			8		0	0	0.004482	0	0
CASP14	23581	broad.mit.edu	37	19	15164549	15164549	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:15164549C>T	uc010dzv.2	+	3	395	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	61					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCCAGCAATTCCAGGAAGAGC	0.562000														38			27		0	0	0.024334	0	0
BC070322	0	broad.mit.edu	37	9	69634764	69634764	+	RNA	SNP	T	C	C			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:69634764T>C	uc004afu.3	-	2		c.307A>G								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		AGTGCGTGTGTTCCTGGCAGT	0.592000														28			7		0	0	0.010729	0	0
TAAR5	9038	broad.mit.edu	37	6	132910108	132910109	+	Silent	DNP	GG	AA	AA			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr6:132910108_132910109GG>AA	uc003qdk.2	-	0	769_770	c.717_718CC>TT	c.(715-720)agcctg>agTTtg	p.239_240SL>SL		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	239					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCCCCAGCCAGGCTTTTGCTCA	0.505000														12			26		0	0	0.004672	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246477	43246478	+	RNA	DNP	GG	AA	AA			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:43246477_43246478GG>AA	uc002iik.1	-	1		c.1742_1743CC>TT			HEXIM2_uc002iih.1_Missense_Mutation_p.D55N|HEXIM2_uc010daf.1_Missense_Mutation_p.D77N|HEXIM2_uc002iii.1_Missense_Mutation_p.D55N|HEXIM2_uc002iij.1_Missense_Mutation_p.D55N			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCCACTCAGAGGATGAAGATCT	0.663000														104			65		0	0	0.004672	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20501653	20501653	+	Missense_Mutation	SNP	T	G	G	rs75943391		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr20:20501653T>G	uc002wrz.3	-	30	4135	c.3992A>C	c.(3991-3993)gAc>gCc	p.D1331A	RALGAPA2_uc002wry.3_Missense_Mutation_p.D946A|RALGAPA2_uc010zsg.2_Missense_Mutation_p.D779A|RALGAPA2_uc002wsa.1_Missense_Mutation_p.D103A	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1331					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						CAGGAAGGGGTCATAATCCGT	0.493000														62			9		0	0	0.006122	0	0
PER1	5187	broad.mit.edu	37	17	8053945	8053945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr17:8053945G>A	uc002gkd.3	-	1	318	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Missense_Mutation_p.S27F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	27					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGCCCAGGGGATGGGACGCC	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						44			46		0	0	0.011902	0	0
EVX2	344191	broad.mit.edu	37	2	176947070	176947070	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:176947070C>T	uc010zeu.2	-	1	721	c.535G>A	c.(535-537)Ggt>Agt	p.G179S		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGGAGCCACCCAGCGCCGCG	0.711000														3			4		0	0	0.014758	0	0
BASP1	10409	broad.mit.edu	37	5	17275459	17275459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:17275459C>T	uc003jfx.3	+	1	313	c.134C>T	c.(133-135)gCc>gTc	p.A45V	BASP1_uc021xws.1_Missense_Mutation_p.A45V	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	45				A -> P (in Ref. 1; AAC67374).	glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCCCAGGCGGCCGCAGAGCCC	0.677000														6			4		0	0	0.009096	0	0
RFWD3	55159	broad.mit.edu	37	16	74685906	74685906	+	Silent	SNP	A	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:74685906A>G	uc002fda.3	-	2	731	c.633T>C	c.(631-633)tcT>tcC	p.S211S	RFWD3_uc010cgq.3_Silent_p.S211S	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	211					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAGAACTACTAGACACCTGCA	0.468000														67			44		0	0	0.008740	0	0
NBEA	26960	broad.mit.edu	37	13	35747690	35747690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr13:35747690C>T	uc021rid.1	+	26	5047	c.4513C>T	c.(4513-4515)Cag>Tag	p.Q1505*	NBEA_uc021ric.1_Nonsense_Mutation_p.Q1502*|NBEA_uc010abi.3_Nonsense_Mutation_p.Q193*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1505						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGTAAACCTCAGGAAGTTCC	0.358000														42			8		0	0	0.010729	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														5			4		0	0	0.009096	0	0
KCNK9	51305	broad.mit.edu	37	8	140631316	140631316	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr8:140631316C>T	uc003yvf.1	-	1	374	c.310G>A	c.(310-312)Gat>Aat	p.D104N	KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	104						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTGCCCGCATCGGTGCCAGGT	0.612000														26			7		0	0	0.003080	0	0
HYDIN	54768	broad.mit.edu	37	16	70891771	70891771	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr16:70891771G>A	uc002ezr.3	-	71	12280	c.12129C>T	c.(12127-12129)atC>atT	p.I4043I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4044										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)				ACTGGAACACGATCTAACAAG	0.478000														23			12		0	0	0.010729	0	0
PDE2A	5138	broad.mit.edu	37	11	72297156	72297156	+	Silent	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:72297156G>A	uc010rrc.2	-	13	1386	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	PDE2A_uc001oso.3_Silent_p.T359T|PDE2A_uc010rra.2_Silent_p.T373T|PDE2A_uc001osn.3_Silent_p.T124T|PDE2A_uc010rrb.2_Silent_p.T371T|PDE2A_uc010rrd.2_Silent_p.T265T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	380					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGAAGGCCAGGGTGCTGGTGA	0.607000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			46		0	0	0.014410	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707648	96707648	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr10:96707648G>A	uc001kka.4	+	3	619	c.594G>A	c.(592-594)atG>atA	p.M198I	CYP2C9_uc009xut.3_Missense_Mutation_p.M198I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	198					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTAACTTAATGGAAAAGTTGA	0.378000														38			36		0	0	0.015359	0	0
ATP2A2	488	broad.mit.edu	37	12	110781221	110781221	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr12:110781221C>T	uc001tqk.4	+	15	3066	c.2503C>T	c.(2503-2505)Cgt>Tgt	p.R835C	ATP2A2_uc001tql.4_Missense_Mutation_p.R835C|ATP2A2_uc021rdt.1_Missense_Mutation_p.R683C|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	835					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTCTTTTTCCGTTACTTGGC	0.418000														59			39		0	0	0.009718	0	0
SGOL2	151246	broad.mit.edu	37	2	201438005	201438005	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr2:201438005C>T	uc002uvw.2	+	6	3049	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	SGOL2_uc010zhd.1_Missense_Mutation_p.S979F|SGOL2_uc010zhe.1_Missense_Mutation_p.S979F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	979					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTTAGATTCCTACAAAGTA	0.294000														8			26		0	0	0.018920	0	0
OR52B2	255725	broad.mit.edu	37	11	6190887	6190887	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:6190887G>A	uc010qzy.2	-	0	670	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCTCGGAGGATCAGTGAG	0.498000														38			23		0	0	0.014323	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:40137497C>T	uc021qgf.1	-	0	346	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E116K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E112K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428000														33			23		0	0	0.012319	0	0
TRIM3	10612	broad.mit.edu	37	11	6477849	6477849	+	Silent	SNP	C	T	T			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr11:6477849C>T	uc001mdh.3	-	6	1503	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	TRIM3_uc001mdi.3_Silent_p.P369P|TRIM3_uc010raj.2_Silent_p.P250P|TRIM3_uc009yfd.3_Silent_p.P369P|TRIM3_uc010rak.1_Silent_p.P369P|TRIM3_uc001mdj.2_Silent_p.P250P	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	369					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGTGCCGTCCGGGCCGGTGA	0.642000														27			33		0	0	0.017118	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611598	47611601	+	Frame_Shift_Del	DEL	TAGA	-	-	rs2405599	byFrequency	TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:47611598_47611601delTAGA	uc001cqv.1	+	9	1334_1337	c.1283_1286delTAGA	c.(1282-1287)ctagagfs	p.L428fs	CYP4A22_uc009vyo.3_Frame_Shift_Del_p.L428fs|CYP4A22_uc009vyp.3_Frame_Shift_Del_p.L330fs	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	428			L -> P (in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCCCAACCTAGAGGTATGTGGT	0.510													---	209	---	---	105	---					
KRTCAP2	200185	broad.mit.edu	37	1	155145290	155145291	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr1:155145290_155145291insG	uc001fho.3	-	1	186_187	c.160_161insC	c.(160-162)cgtfs	p.R54fs	KRTCAP2_uc001fhp.1_Frame_Shift_Ins_p.R54fs|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.3_5'Flank|TRIM46_uc001fhr.3_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhw.1_5'Flank	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	Homo sapiens keratinocyte associated protein 2 (KRTCAP2), mRNA.	54						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCAGCTGACGGCTGTACATC	0.639													---	28	---	---	32	---					
SFRP2	6423	broad.mit.edu	37	4	154709955	154709956	+	In_Frame_Ins	INS	-	AGC	AGC			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr4:154709955_154709956insAGC	uc003inv.1	-	0	273_274	c.32_33insGCT	c.(31-33)ctc>ctGCTc	p.11_11L>LL		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	11					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGCGAGGAAGAGCAGCAGCAG	0.708													---	20	---	---	8	---					
HRCT1	646962	broad.mit.edu	37	9	35906595	35906596	+	In_Frame_Ins	INS	-	CCC	CCC	rs58509439		TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr9:35906595_35906596insCCC	uc003zyr.1	+	0	407_408	c.311_312insCCC	c.(310-312)cac>caCCCc	p.104_105insP	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	104	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccaccacccccacc	0.673													---	23	---	---	9	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FS-A1YW-06A-11D-A197-08	TCGA-FS-A1YW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ede8a2a-405e-4689-967b-627bff0f1496	781d7787-9f92-4774-ac27-6c679bbd3387	g.chr19:46299147_46299149delCCT	uc002pdm.3	-	5	2303_2305	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E447del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	711	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						GTctcctcgccctcctcctcctc	0.557													---	151	---	---	9	---					
